Chromosome 22 Central

CHROMOSOME 22 CENTRAL
SUPPORT FOR ALL CHROMOSOME 22 RELATED DISORDERS

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22q11.2 DELETION REFERENCE ARTICLES

2008

Halder A, Jain M, Kabra M, Gupta N. Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases. Mol Cytogenet. 2008 Aug .

Gibbon F, Lee A, Yuen I, Crampin L. Clicks produced as compensatory articulations in two adolescents with velocardiofacial syndrome. Cleft Palate Craniofac J. 2008 Jul;45(4):381-92.

da Silva Dalben G, Richieri-Costa A, de Assis Taveira LA. Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008 Aug;106(2):e46-51.

Burtey S. 22q11.2 microdeletion syndrome is a common cause of renal tract malformations. Nat Clin Pract Nephrol. 2008 Aug;4(8):E1.

Müller UJ, Fellgiebel A. Successful Treatment of Long-lasting Psychosis in a Case of 22q11.2 Deletion Syndrome. Pharmacopsychiatry. 2008 Jul;41(4):158-9.

Vorstman JA, Chow EW, Ophoff RA, van Engeland H, Beemer FA, Kahn RS, Sinke RJ, Bassett AS. Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet. 2008 Jul 21.

McDonald-McGinn DM, Zackai EH. Genetic counseling for the 22q11.2 deletion. Dev Disabil Res Rev. 2008 00;14(1):69-74.

Gothelf D, Schaer M, Eliez S. Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome. Dev Disabil Res Rev. 2008 00;14(1):59-68.

Carotti A, Digilio MC, Piacentini G, Saffirio C, Di Donato RM, Marino B. Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome. Dev Disabil Res Rev. 2008 00;14(1):35-42.

Prasad SE, Howley S, Murphy KC. Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome. Dev Disabil Res Rev. 2008 00;14(1):26-34.

Aggarwal VS, Morrow BE. Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome. Dev Disabil Res Rev. 2008 00;14(1):19-25.

Emanuel BS. Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev Disabil Res Rev. 2008 00;14(1):11-18.

Shprintzen RJ. Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev. 2008 00;14(1):3-10.

Kates WR, Emanuel BS. Introduction: Advances in research on velo-cardio-facial syndrome/22q11.2 deletion syndrome. Dev Disabil Res Rev. 2008 00;14(1):1-2.

Dufour F, Schaer M, Debbané M, Farhoumand R, Glaser B, Eliez S. Cingulate gyral reductions are related to low executive functioning and psychotic symptoms in 22q11.2 deletion syndrome. Neuropsychologia. 2008 Jun 21.

Simon TJ. A New Account of the Neurocognitive Foundations of Impairments in Space, Time and Number Processing in Children with Chromosome 22q11.2 Deletion Syndrome. Dev Disabil Res Rev. 2008;14(1):52-58.

Philip N, Reynaud R. [Hypocalcemia and microdeletion 22q11.2.] Arch Pediatr. 2008 Jun;15(5):648-649. French.

Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, McPherson E, Morris CA, Noonan J, Nowak C, Pierpont ME, Pyeritz RE, Rope AF, Zackai E, Pober BR. Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet Med. 2008 Jun 18.

Simon TJ, Wu Z, Avants B, Zhang H, Gee JC, Stebbins GT. Atypical cortical connectivity and visuospatial cognitive impairments are related in children with chromosome 22q11.2 deletion syndrome. Behav Brain Funct. 2008 Jun 17;4(1):25

Widdershoven JC, Beemer FA, Kon M, Dejonckere PH, Mink van der Molen AB. Possible mechanisms and gene involvement in speech problems in the 22q11.2 deletion syndrome. J Plast Reconstr Aesthet Surg. 2008 Jun 11.

Xu J, Fan YS, Siu VM. A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: Is this a candidate region for the syndrome? Am J Med Genet A. 2008 Jun 13.

O’Driscoll MC, Clayton-Smith J. Bilateral camptodactyly and recurrent patellar dislocation: a new sign of 22q11 deletions or an independent dominant disorder? Clin Dysmorphol. 2008 Jul;17(3):157-159.

Konen O, Armstrong D, Clarke H, Padfield N, Weksberg R, Blaser S. C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome. Pediatr Radiol. 2008 May 31;

Rosa RF, Pilla CB, Pereira VL, Flores JA, Golendziner E, Koshiyama DB, Hertz MT, Ricachinevsky CP, Roman T, Varella-Garcia M, Paskulin GA. 22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil . Am J Med Genet A. 2008 May 29.

Barisić I, Morozin Pohovski L, Petković I, Cvetko Z, Stipancić G, Bagatin M. Screening of patients at risk for 22q11 deletion. Coll Antropol. 2008 Mar;32(1):165-9.

Filippi L, Serafini L, Fiorini P, Agostini E, Giovannucci Uzielli ML. Congenital Microgastria and Primary Ciliary Dyskinesia in a Newborn with DiGeorge Syndrome and 22q11.2 Deletion. Eur J Pediatr Surg. 2008 Jun;18(3):195-7.

McLean-Tooke A, Barge D, Spickett GP, Gennery AR. Immunologic defects in 22q11.2 deletion syndrome. J Allergy Clin Immunol. 2008 May 15.

Bearden CE, van Erp TG, Dutton RA, Lee AD, Simon TJ, Cannon TD, Emanuel BS, McDonald-McGinn D, Zackai EH, Thompson PM. Alterations in Midline Cortical Thickness and Gyrification Patterns Mapped in Children with 22q11.2 Deletions. Cereb Cortex. 2008 May 14.

Kiehl TR, Chow EW, Mikulis DJ, George SR, Bassett AS. Neuropathologic Features in Adults with 22q11.2 Deletion Syndrome. Cereb Cortex. 2008 May 14.

Oskarsdóttir S, Holmberg E, Fasth A, Strömland K. Facial features in children with the 22q11 deletion syndrome. Acta Paediatr. 2008 May 13;

Bassett AS, Chow EW. Schizophrenia and 22q11.2 deletion syndrome. Curr Psychiatry Rep. 2008 Apr;10(2):148-57.

Stark KL, Xu B, Bagchi A, Lai WS, Liu H, Hsu R, Wan X, Pavlidis P, Mills AA, Karayiorgou M, Gogos JA. Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model. Nat Genet. 2008 May 11.

Blennow E, Lagerstedt K, Malmgren H, Sahlén S, Schoumans J, Anderlid BM. Concurrent microdeletion and duplication of 22q11.2. Clin Genet. 2008 Apr 28.

Sullivan KE. Chromosome 22q11.2 Deletion Syndrome: DiGeorge Syndrome/Velocardiofacial Syndrome. Immunol Allergy Clin North Am. 2008 May;28(2):353-66.

Tan KB, Chew SK , Yeo GS. 22q11.2 deletion syndrome in Singapore (2000-2003): a case for active ascertainment. Singapore Med J. 2008 Apr;49(4):286-9.

Cichocki M, Singer G, Beyerlein S, Zeder SL, Schober P, Höllwarth M. A case of necrotizing enterocolitis associated with adenovirus infection in a term infant with 22q11 deletion syndrome. J Pediatr Surg. 2008 Apr;43(4):e5-8.

Kapadia CR, Kim YE, McDonald-McGinn DM, Zackai EH, Katz LE. Parathyroid hormone reserve in 22q11.2 deletion syndrome. Genet Med. 2008 Mar;10(3):224-8.

Nogueira SI, Hacker AM, Bellucco FT, Christofolini DM, Kulikowski LD, Cernach MC, Emanuel BS, Melaragno MI. Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum. Eur J Med Genet. 2008 Feb 8.

Binenbaum G, McDonald-McGinn DM, Zackai EH, Walker BM, Coleman K, Mach AM, Adam M, Manning M, Alcorn DM, Zabel C, Anderson DR, Forbes BJ. Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. Am J Med Genet A. 2008 Mar 6.

Kapadia RK, Bassett AS. Recognizing a common genetic syndrome: 22q11.2 deletion syndrome. CMAJ. 2008 Feb 12;178(4):391-3.

Scheuerle A. Teenager with uterine didelphys, absent kidney and 22q11.2 deletion. Am J Med Genet A. 2008 Feb 4.

Fung WL, Chow EW, Webb GD, Gatzoulis MA, Bassett AS. Extracardiac features predicting 22q11.2 Deletion Syndrome in adult congenital heart disease. Int J Cardiol. 2008 Jan 10.

Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A. 22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome. Am J Hum Genet. 2008 Jan;82(1):214-21.

Ziolkowska L, Kawalec W, Turska-Kmiec A, Krajewska-Walasek M, Brzezinska-Rajszys G, Daszkowska J, Maruszewski B, Burczynski P. Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery. Eur J Pediatr. 2008 Jan 3.

Baylis AL, Munson B, Moller KT. Factors affecting articulation skills in children with velocardiofacial syndrome and children with cleft palate or velopharyngeal dysfunction: a preliminary report. Cleft Palate Craniofac J. 2008 Mar;45(2):193-207.

Prabhakaran VC, Davis G, Wormald PJ, Selva D. Congenital absence of the nasolacrimal duct in velocardiofacial syndrome. J AAPOS. 2008 Feb;12(1):85-6.

Rommel N, Davidson G, Cain T, Hebbard G, Omari T. Videomanometric evaluation of pharyngo-oesophageal dysmotility in children with velocardiofacial syndrome. J Pediatr Gastroenterol Nutr. 2008 Jan;46(1):87-91.

Liang HP, Morel-Kopp MC, Curtin J, Wilson M, Hewson J, Chen W, Ward CM. Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients. Thromb Haemost. 2007 Dec;98(6):1298-308.

Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS. Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum Mutat. 2008 Mar;29(3):433-40.

Markert ML. Treatment of infants with complete DiGeorge anomaly. J Allergy Clin Immunol. 2008 Feb 18.

Kato T, Inagaki H, Kogo H, Ohye T, Yamada K, Emanuel BS, Kurahashi H. Two different forms of palindrome resolution in the human genome: deletion or translocation. Hum Mol Genet. 2008 Jan 9

2007

Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS. Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum Mutat. 2007 Nov 21.

Debbané M, Van der Linden M, Glaser B, Eliez S. Source monitoring for actions in adolescents with 22q11.2 deletion syndrome (22q11DS). Psychol Med. 2007 Nov 16;1-10.

Williams NM, Glaser B, Norton N, Williams H, Pierce T, Moskvina V, Monks S, Del Favero J, Goossens D, Rujescu D, Kirov G, Craddock N, Murphy K, O'Donovan MC, Owen MJ. Strong evidence that GNB1L is associated with schizophrenia. Hum Mol Genet. 2007 Nov 13.

Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN, Weksberg R. Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification. Am J Med Genet A. 2007 Nov 14.

Erickson RP, de Ståhl TD, Bruder CE, Dumanski JP. A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients. Am J Med Genet A. 2007 Nov 13.

Hay BN. Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol. 2007 Sep;14(3):136-9.

Hoogendoorn ML, Vorstman JA, Jalali GR, Selten JP, Sinke RJ, Emanuel BS, Kahn RS.

Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia. Schizophr Res. 2007 Oct 25.

Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet. 2007 Oct 20;370(9596):1443-52.

Michaelovsky E, Gothelf D, Korostishevsky M, Frisch A, Burg M, Carmel M, Steinberg T, Inbar D, Apter A, Weizman A. Association between a common haplotype in the COMT gene region and psychiatric disorders in individuals with 22q11.2DS. Int J Neuropsychopharmacol. 2007 Oct 22;:1-13.

Kates WR, Antshel KM, Fremont WP, Shprintzen RJ, Strunge LA, Burnette CP, Higgins AM. Comparing phenotypes in patients with idiopathic autism to patients with velocardiofacial syndrome (22q11 DS) with and without autism. Am J Med Genet A. 2007 Oct 15.

Simon TJ, Takarae Y, Deboer T, McDonald-McGinn DM, Zackai EH, Ross JL. Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes. Neuropsychologia. 2007 Aug 26.

Kyburz A, Bauersfeld U, Schinzel A, Riegel M, Hug M, Tomaske M, Valsangiacomo Buchel ER. The Fate of Children with Microdeletion 22q11.2 Syndrome and Congenital Heart Defect: Clinical Course and Cardiac Outcome. Pediatr Cardiol. 2007 Sep 29.

Jungerius BJ, Hoogendoorn ML, Bakker SC, Van't Slot R, Bardoel AF, Ophoff RA, Wijmenga C, Kahn RS, Sinke RJ. An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia. Mol Psychiatry. 2007 Sep 25.

Parker RI. Blood transfusions in patients with 22q11.2 deletion syndrome: Assessment of risk requires identification of the at-risk patient*. Pediatr Crit Care Med. 2007 Sep;8(5):502-3.

Jatana V, Gillis J, Webster BH, Ades LC. Deletion 22q11.2 syndrome-Implications for the intensive care physician* Pediatr Crit Care Med. 2007 Sep;8(5):459-463.

Osoegawa K, Vessere GM, Utami KH, Mansilla MA, Johnson MK, Riley BM, L'heureux J, Pfundt R, Staaf J, van der Vliet WA, Lidral AC, Schoenmakers EF, Borg A, Schutte BC, Lammer EJ, Murray JC, De Jong PJ. Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridization. J Med Genet. 2007 Sep 14.

Kaulitz R, Ziemer G, Hofbeck M. Proximal origin and hypoplasia of the left pulmonary artery in association with chromosome 22q11 deletion, right aortic arch, and persistently patent right-sided arterial duct. Cardiol Young. 2007 Sep 17;:1-2

Glaser B, Schaer M, Berney S, Debbane M, Vuilleumier P, Eliez S. Structural changes to the fusiform gyrus: A cerebral marker for social impairments in 22q11.2 deletion syndrome? Schizophr Res. 2007 Sep 7.

Gothelf D, Penniman L, Gu E, Eliez S, Reiss AL. Developmental trajectories of brain structure in adolescents with 22q11.2 deletion syndrome: A longitudinal study. Schizophr Res. 2007 Sep 3.

McCarthy J. Children with autism spectrum disorders and intellectual disability. Curr Opin Psychiatry. 2007 Sep;20(5):472-6.

De Smedt B, Devriendt K, Fryns JP, Vogels A, Gewillig M, Swillen A. Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update. J Intellect Disabil Res. 2007 Sep;51(Pt 9):666-70.

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Andersson F, Glaser B, Spiridon M, Debbane M, Vuilleumier P, Eliez S. Impaired Activation of Face Processing Networks Revealed by Functional Magnetic Resonance Imaging in 22q11.2 Deletion Syndrome. Biol Psychiatry. 2007 Jul 23.

Akar NA, Adekile AD. Chromosome 22q11.2 deletion presenting with immune-mediated cytopenias, macrothrombocytopenia and platelet dysfunction. Med Princ Pract. 2007;16(4):318-20.

Atallah J, Joffe AR, Robertson CM, Leonard N, Blakley PM, Nettel-Aguirre A, Sauve RS, Ross DB, Rebeyka IM; Western Canadian Complex Pediatric Therapies Project Follow-up Group. Two-year general and neurodevelopmental outcome after neonatal complex cardiac surgery in patients with deletion 22q11.2: a comparative study. J Thorac Cardiovasc Surg. 2007 Sep;134(3):772-9.

Antshel KM, Faraone SV, Fremont W, Monuteaux MC, Kates WR, Doyle A, Mick E, Biederman J. Comparing ADHD in velocardiofacial syndrome to idiopathic ADHD: a preliminary study. J Atten Disord. 2007 Jul;11(1):64-73.

Babcock M, Yatsenko S, Hopkins J, Brenton M, Cao Q, de Jong P, Stankiewicz P, Lupski JR, Sikela JM, Morrow BE. Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/DiGeorge syndrome. Hum Mol Genet. 2007 Aug 3.

Barnes KC, Garcia JG. Macrophage migration inhibitory factor in acute lung injury: expression, biomarker, and associations. Transl Res. 2007 Jul;150(1):18-29.

Bashir MA, Hodgkinson PD, Montgomery T, Splitt M. 22q11 Deletion in children with cleft lip and palate - is routine screening justified? J Plast Reconstr Aesthet Surg. 2007 Aug 16.

Bish JP, Chiodo R, Mattei V, Simon TJ. Domain specific attentional impairments in children with chromosome 22q11.2 deletion syndrome. Brain Cogn. 2007 May 10.

Boot E, Booij J, Zinkstok J, Abeling N, de Haan L, Baas F, Linszen D, van Amelsvoort T. Disrupted Dopaminergic Neurotransmission in 22q11 Deletion Syndrome. Neuropsychopharmacology. 2007 Jul 25.

Burdick KE, Funke B, Goldberg JF, Bates JA, Jaeger J, Kucherlapati R, Malhotra AK. COMT genotype increases risk for bipolar I disorder and influences neurocognitive performance. Bipolar Disord. 2007 Jun;9(4):370-6.

Burmistrova OA, Goltsov AY, Abramova LI, Kaleda VG, Orlova VA, Rogaev EI. MicroRNA in Schizophrenia: Genetic and Expression Analysis of miR-130b (22q11). Biochemistry (Mosc). 2007 May;72(5):578-82.

Casteels I, Casaer P, Gewillig M, Swillen A, Devriendt K. Ocular findings in children with a microdeletion in chromosome 22q11.2. Eur J Pediatr. 2007 Aug 18.

Choi YW, Bae SM, Kim YW, Lee HN, Kim YW, Park TC, Ro DY, Shin JC, Shin SJ, Seo JS, Ahn WS. Gene expression profiles in squamous cell cervical carcinoma using array-based comparative genomic hybridization analysis. Int J Gynecol Cancer. 2007 May-Jun;17(3):687-96.

D'Angelo CS, Jehee FS, Koiffmann CP. An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior. Am J Med Genet A. 2007 Aug 15;143(16):1928-32.

Feinstein C, Singh S. Social phenotypes in neurogenetic syndromes. Child Adolesc Psychiatr Clin N Am. 2007 Jul;16(3):631-47.

Funke BH, Lencz T, Finn CT, Derosse P, Poznik GD, Plocik AM, Kane J, Gregersen P, Rogus J, Malhotra AK, Kucherlapati R. Analysis Of TBX1 Variation In Patients With Psychotic And Affective Disorders. Mol Med. 2007 Jun 11.

Gao L, Flores C, Fan-Ma S, Miller EJ, Moitra J, Moreno L, Wadgaonkar R, Simon B, Brower R, Sevransky J, Tuder RM, Maloney JP, Moss M, Shanholtz C, Yates CR, Meduri GU, Ye SQ,

Gioli-Pereira L, Pereira AC, Bergara D, Mesquita S, Lopes AA, Krieger JE. Frequency of 22q11.2 microdeletion in sporadic non-syndromic tetralogy of Fallot cases. Int J Cardiol. 2007 Jun 28.

Gothelf D. Velocardiofacial syndrome. Child Adolesc Psychiatr Clin N Am. 2007 Jul;16(3):677-93.

Gothelf D, Aviram-Goldring A, Burg M, Steinberg T, Mahajnah M, Frisch A, Fennig S, Zalsman G, Weizman A. Cognition, psychosocial adjustment and coping in familial cases of velocardiofacial syndrome. J Neural Transm. 2007 Jun 8.

Heike CL, Avellino AM, Mirza SK, Kifle Y, Perkins J, Sze R, Egbert M, Hing AV. Sleep disturbances in 22q11.2 deletion syndrome: a case with obstructive and central sleep apnea. Cleft Palate Craniofac J. 2007 May;44(3):340-6.

Huber J, Rainho CA, Gomes MV, Santos SA, Ramos ES. Velocardiofacial syndrome with a rare t(2;22). Clin Dysmorphol. 2007 Jul;16(3):181-3.

Jackson EM, Shaikh TH, Gururangan S, Jones MC, Malkin D, Nikkel SM, Zuppan CW, Wainwright LM, Zhang F, Biegel JA. High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor. Hum Genet. 2007 Sep;122(2):117-27.

Kates WR, Krauss BR, Abdulsabur N, Colgan D, Antshel KM, Higgins AM, Shprintzen RJ. The neural correlates of non-spatial working memory in velocardiofacial syndrome (22q11.2 deletion syndrome). Neuropsychologia. 2007;45(12):2863-2873.

Korbel JO, Urban AE, Grubert F, Du J, Royce TE, Starr P, Zhong G, Emanuel BS, Weissman SM, Snyder M, Gerstein MB. Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome. Proc Natl Acad Sci U S A. 2007 Jun 12;104(24):10110-5.

Kung SJ, Gripp KW, Stephan MJ, Fairchok MP, McGeady SJ. Selective IgM deficiency and 22q11.2 deletion syndrome. Ann Allergy Asthma Immunol. 2007 Jul;99(1):87-92.

Libicher M, Appelt A, Berger I, Baier M, Meeder PJ, Grafe I, Dafonseca K, Noldge G, Kasperk C. The intravertebral vacuum phenomenon as specific sign of osteonecrosis in vertebral compression fractures: results from a radiological and histological study. Eur Radiol. 2007 Sep;17(9):2248-52.

McLean-Tooke A, Spickett GP, Gennery AR. Immunodeficiency and Autoimmunity in 22q11.2 Deletion Syndrome. Scand J Immunol. 2007 Jul;66(1):1-7.

Meechan DW, Maynard TM, Gopalakrishna D, Wu Y, LaMantia AS. When half is not enough: gene expression and dosage in the 22q11 deletion syndrome. Gene Expr. 2007;13(6):299-310.

Milczuk HA, Smith DS, Brockman JH. Surgical outcomes for velopharyngeal insufficiency in velocardiofacial syndrome and nonsyndromic patients. Cleft Palate Craniofac J. 2007 Jul;44(4):412-7.

Mikhail FM, Descartes M, Piotrowski A, Andersson R, Diaz de Stahl T, Komorowski J, Bruder CE, Dumanski JP, Carroll AJ. A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene. Am J Med Genet A. 2007 Aug 3.

Naeem KB, Ahmed M. Stridor in a neonate--is it just a floppy larynx? J Pak Med Assoc. 2007 Jun;57(6):322-3.

Nogueira SI, Hacker AM, Bellucco FT, Kulikowski LD, Christofolini DM, Cernach MC, Melaragno MI, Emanuel BS. Deletion 22q11.2: Report of a complex meiotic mechanism of origin. Am J Med Genet A. 2007 Jun 29.

Poon LC, Huggon IC, Zidere V, Allan LD. Tetralogy of Fallot in the fetus in the current era. Ultrasound Obstet Gynecol. 2007 Apr 2.

Reiersen AM. Psychopathology in 22q11 deletion syndrome. J Am Acad Child Adolesc Psychiatry. 2007 Aug;46(8):942.

Schaer M, Eliez S. From genes to brain: understanding brain development in neurogenetic disorders using neuroimaging techniques. Child Adolesc Psychiatr Clin N Am. 2007 Jul;16(3):557-79.

Shen M, Kim Y. Osteoporotic vertebral compression fractures: a review of current surgical management techniques. Am J Orthop. 2007 May;36(5):241-8.

Sullivan KE. DiGeorge syndrome/velocardiofacial syndrome: the chromosome 22q11.2 deletion syndrome. Adv Exp Med Biol. 2007;601:37-49.

Sundaram UT, McDonald-McGinn DM, Huff D, Emanuel BS, Zackai EH, Driscoll DA, Bodurtha J. Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome. Am J Med Genet A. 2007 Aug 3.

VAN Amelsvoort T, Zinkstok J, Figee M, Daly E, Morris R, Owen MJ, Murphy KC, DE Haan L, Linszen DH, Glaser B, Murphy DG. Effects of a functional COMT polymorphism on brain anatomy and cognitive function in adults with velo-cardio-facial syndrome. Psychol Med. 2007 May 10:1-12.

Vorstman JA, Morcus ME, van Engeland H. Psychopathology in 22q11 deletion syndrome. J Am Acad Child Adolesc Psychiatry. 2007 Aug;46(8):942-4.

Roizen NJ, Antshel KM, Fremont W, Abdulsabur N, Higgins AM, Shprintzen RJ, Kates WR. 22q11.2DS Deletion Syndrome: Developmental Milestones in Infants and Toddlers. J Dev Behav Pediatr. 2007 Apr;28(2):119-124.

Dempsey MA, Schwartz S, Waggoner DJ. Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome. Am J Med Genet A. 2007 Apr 12.

Gothelf D, Hoeft F, Hinard C, Hallmayer JF, Van Dover Stoecker J, Antonarakis SE, Morris MA, Reiss AL. Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome. Hum Brain Mapp. 2007 Apr 10.

Golthef D, et al. Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. Am J Psychiatry, 164:4; April 2007

Yu R, Zhang XN, Huang XX, Ding SP, Li JC. Association analysis of COMT polymorphisms and schizophrenia in a Chinese Han population: A case-control study. Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 10.

Vorstman JA, Morcus ME, van Engeland H. Autism in children with 22q11.2 deletion syndrome. J Am Acad Child Adolesc Psychiatry. 2007 Apr;46(4):434-5.

Eliez S. Autism in children with 22q11.2 deletion syndrome. J Am Acad Child Adolesc Psychiatry. 2007 Apr;46(4):433-4.

Torres-Juan L, Rosell J, Sanchez de la Torre M, Fibla J, Heine-Suner D. Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications. BMC Med Genet. 2007 Apr 2;8(1):14.

Funke BH, Brown AC, Ramoni MF, Regan ME, Baglieri C, Finn CT, Babcock M, Shprintzen RJ, Morrow BE, Kucherlapati R. A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions. Genet Test. 2007 Spring;11(1):91-100.

Tokuyasu TA, Cotter PD, Segraves R, Harris J, Elder ME, Gonzales M, Pinkel D, Albertson DG, Rauen KA. Detection of single clone deletions using array CGH: Identification of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system. Am J Med Genet A. 2007 Mar 29.

Ousley O, Rockers K, Dell ML, Coleman K, Cubells JF. A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: implications for clinical evaluation and treatment. Curr Psychiatry Rep. 2007 Apr;9(2):148-58.

Torres-Juan L, Rosell J, Morla M, Vidal-Pou C, Garcia-Algas F, de la Fuente MA, Juan M, Tubau A, Bachiller D, Bernues M, Perez-Granero A, Govea N, Busquets X, Heine-Suner D. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. Eur J Hum Genet. 2007 Mar 21.

Digilio MC, Marino B, Dallapiccola B. Deletion 22q11 and isolated congenital heart disease. Int J Cardiol. 2007 Feb 26.

Jansen PW, Duijff SN, Beemer FA, Vorstman JA, Klaassen PW, Morcus ME, Heineman-de Boer JA. Behavioral problems in relation to intelligence in children with 22q11.2 deletion syndrome: A matched control study. Am J Med Genet A. 2007 Feb 22;143A(6):574-580.

Majerus S, Van der Linden M, Braissand V, Eliez S. Verbal short-term memory in individuals with chromosome 22q11.2 deletion: specific deficit in serial order retention capacities? Am J Ment Retard. 2007 Mar;112(2):79-93.

Babcock M, Yatsenko S, Stankiewicz P, Lupski JR, Morrow BE. AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12. Genome Res. 2007 Feb 6.

Markert ML, Devlin BH, Alexieff MJ, Li J, McCarthy EA, Gupton SE, Chinn IK, Hale LP, Kepler TB, He M, Sarzotti M, Skinner MA, Rice HE, Hoehner JC. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood. 2007 Feb 6.

Briegel W, Schneider M, Schwab KO. 22q11.2 deletion syndrome: behaviour problems of infants and parental stress. Child Care Health Dev. 2007 May;33(3):319-24.

Sandrin-Garcia P, Abramides DV, Martelli LR, Ramos ES, Richieri-Costa A, Passos GA. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2.Mol Cell Biochem. 2007 Apr 11.

Kummer AW, Lee L, Stutz LS, Maroney A, Brandt JW. The prevalence of apraxia characteristics in patients with velocardiofacial syndrome as compared with other cleft populations. Cleft Palate Craniofac J. 2007 Mar;44(2):175-81.

Carandang CG, Scholten MC. Metyrosine in psychosis associated with 22q11.2 deletion syndrome: case report. J Child Adolesc Psychopharmacol. 2007 Feb;17(1):115-20.

Aneja A, Fremont WP, Antshel KM, Faraone SV, AbdulSabur N, Higgins AM, Shprintzen R, Kates WR. Manic symptoms and behavioral dysregulation in youth with velocardiofacial syndrome (22q11.2 deletion syndrome). J Child Adolesc Psychopharmacol. 2007 Feb;17(1):105-14.

Antshel KM, Stallone K, Abdulsabur N, Shprintzen R, Roizen N, Higgins AM, Kates WR. Temperament in velocardiofacial syndrome. Intellect Disabil Res. 2007 Mar;51(Pt 3):218-27.

Oh AK, Workman LA, Wong GB. Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome. Cleft Palate Craniofac J. 2007 Jan;44(1):62-6.

Alberti A, Romano C, Falco M, Cali F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. Clin Genet. 2007 Feb;71(2):177-82.

Kaneko Y, Yoda H, Tsuchiya K. Airway compression by major aortopulmonary collaterals with 22q11 deletion. Asian Cardiovasc Thorac Ann. 2007 Jan;15(1):e9-e11.

Klingberg G, Lingstrom P, Oskarsdottir S, Friman V, Bohman E, Carlen A. Caries-related saliva properties in individuals with 22q11 deletion syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Jan 16.

Loukopoulos P, Shibata T, Katoh H, Kokubu A, Sakamoto M, Yamazaki K, Kosuge T, Kanai Y, Hosoda F, Imoto I, Ohki M, Inazawa J, Hirohashi S. Genome-wide array-based comparative genomic hybridization analysis of pancreatic adenocarcinoma: identification of genetic indicators that predict patient outcome. Cancer Sci. 2007 Jan 19.

Begleiter ML, Lund MM, Atherton AM, Buchholz JD, Ardinger HH. Maternal serum screening and 22q11.2 deletion syndrome. Am J Med Genet A. 2007 Jan 17.

Bassett AS, Caluseriu O, Weksberg R, Young DA, Chow EW. Catechol-O-methyl Transferase and Expression of Schizophrenia in 73 Adults with 22q11 Deletion Syndrome. Biol Psychiatry. 2007 Jan 8.

Oh AK, Workman LA, Wong GB. Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome. Cleft Palate Craniofac J. 2007 Jan;44(1):62-6.

2006

Alkan T, Akcevin A, Turkoglu H, Paker T, Aytac A. Shprintzen (Velo-Cardio-Facial) Syndrome: A Rare Case. ASAIO J. 2006 November/December;52(6):e33-e34.

Madan N, Schneider DJ, Jacobs ML. Right Aortic Arch, Isolated Left Subclavian Artery and Ductus Arteriosus with Normal Intracardiac Anatomy: Rare Manifestation of Chromosome 22q11 Deletion. Pediatr Cardiol. 2006 Nov 16.

Strenge S, Kujat A, Zelante L, Froster UG. A microdeletion 22q11.2 can resemble Shprintzen-Goldberg omphalocele syndrome. Am J Med Genet A. 2006 Nov 13.

Heliovaara A, Hurmerinta K. Craniofacial cephalometric morphology in children with CATCH 22 syndrome. Orthod Craniofac Res. 2006 Nov;9(4):186-92.

McClarren J, Donnenfeld AE, Ravnan JB. Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion. Prenat Diagn. 2006 Nov 13.

Meechan DW, Maynard TM, Wu Y, Gopalakrishna D, Lieberman JA, Lamantia AS. Gene dosage in the developing and adult brain in a mouse model of 22q11 deletion syndrome. Mol Cell Neurosci. 2006 Nov 9.

Gawde H, Patel ZM, Khatkhatey MI, D'Souza A, Babu S, Adhia R, Kerkar P. Chromosome 22 microdeletion by F.I.S.H. in isolated congenital heart disease. Indian J Pediatr. 2006 Oct;73(10):885-888.

Baldini A. The 22q11.2 deletion syndrome: a gene dosage perspective. ScientificWorldJournal. 2006 May 1; 6:1881-7.

Antshel KM, Aneja A, Strunge L, Peebles J, Fremont WP, Stallone K, Abdulsabur N, Higgins AM, Shprintzen RJ, Kates WR. Autistic Spectrum Disorders in Velo-cardio Facial Syndrome (22q11.2 Deletion). J Autism Dev Disord. 2006 Dec 19.

Machado AM, Simon TJ, Nguyen V, McDonald-McGinn DM, Zackai EH, Gee JC. Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome. Brain Res. 2006 Dec 12.

Fagman H, Liao J, Westerlund J, Andersson L, Morrow BE, Nilsson M. The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning. Hum Mol Genet. 2006 Dec 12.

Sivertsen A, Lie RT, Wilcox AJ, Abyholm F, Vindenes H, Haukanes BI, Houge G. Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate. Am J Med Genet A. 2006 Dec 12.

Forbes BJ, Binenbaum G, Edmond JC, Delarato N, McDonald-McGinn DM, Zackai EH. Ocular findings in the chromosome 22q11.2 deletion syndrome. J AAPOS. 2006 Nov 29.

Raux G, Bumsel E, Hecketsweiler B, van Amelsvoort T, Zinkstok J, Manouvrier-Hanu S, Fantini C, Breviere GM, Di Rosa G, Pustorino G, Vogels A, Swillen A, Legallic S, Bou J, Opolczynski G, Drouin-Garraud V, Lemarchand M, Philip N, Gerard-Desplanches A, Carlier M, Philippe A, Nolen MC, Heron D, Sarda P, Lacombe D, Coizet C, Alembik Y, Layet V, Afenjar A, Hannequin D, Demily C, Petit M, Thibaut F, Frebourg T, Campion D. INVOLVEMENT OF HYPERPROLINEMIA IN COGNITIVE AND PSYCHIATRIC FEATURES OF THE 22q11 DELETION SYNDROME. Hum Mol Genet. 2006 Nov 29.

Clarke JR, Schmidt MH, Macken MB, Morley C, Cummings EA. A child with chromosome 22q11.2 deletion syndrome and a bilobed gallbladder. Pediatr Radiol. 2006 Nov 28.

Chen M, Hwu WL, Kuo SJ, Chen CP, Yin PL, Chang SP, Lee DJ, Chen TH, Wang BT, Lin CC. Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth-restricted fetuses with normal or balanced G-banded karyotype. Ultrasound Obstet Gynecol. 2006 Nov 23;28(7):939-943 .

De Smedt B, Swillen A, Devriendt K, Fryns JP, Verschaffel L, Ghesquiere P. Mathematical disabilities in children with velo-cardio-facial syndrome. Neuropsychologia. 2006 Oct 16.

Driscoll DA. Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome. Methods Mol Med. 2006;126:43-55.

Long JM, Laporte P, Merscher S, Funke B, Saint-Jore B, Puech A, Kucherlapati R, Morrow BE, Skoultchi AI, Wynshaw-Boris A. Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome. Neurogenetics. 2006 Nov;7(4):247-57.

Cron RQ, Sullivan KE. Chronic arthritis without uveitis in velocardiofacial syndrome. J Pediatr. 2006 Aug;149(2):281.

Al-Jenaidi F, Makitie O, Grunebaum E, Sochett E. Parathyroid Gland Dysfunction in 22q11.2 Deletion Syndrome. Horm Res. 2006 Oct 19;67(3):117-122

Bearden CE, van Erp TG, Dutton RA, Tran H, Zimmermann L, Sun D, Geaga JA, Simon TJ, Glahn DC, Cannon TD, Emanuel BS, Toga AW, Thompson PM. Mapping Cortical Thickness in Children with 22q11.2 Deletions. Cereb Cortex. 2006 Oct 20.

Brunet A, Gabau E, Perich RM, Valdesoiro L, Brun C, Caballin MR, Guitart M. Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome. Am J Med Genet A. 2006 Oct 13.

Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, Massey RF, McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N, Leventer RJ, Pilz DT, Dobyns WB. Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation. Am J Med Genet A. 2006 Oct 11.

Lewandowski KE, Shashi V, Berry PM, Kwapil TR. Schizophrenic-like neurocognitive deficits in children and adolescents with 22q11 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet. 2006 Oct 10.

Weksberg R, Stachon AC, Squire JA, Moldovan L, Bayani J, Meyn S, Chow E, Bassett AS. Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome. Hum Genet. 2006 Oct 7.

Vorstman, J.A. S. et al. The 22q11.2 deletion in Children" High rate of autistic disorders and early onset of psychotic symptoms. J Am Acad Child Adolesc Psychatry, 45:9; September 2006.

Aggarwal VS, Liao J, Bondarev A, Schimmang T, Lewandoski M, Locker J, Shanske A, Campione M, Morrow BE. Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy. Hum Mol Genet. 2006 Sep 25;

Schaan BD, Huber J, Leite JC, Kiss A. Cardiac surgery unmasks latent hypoparathyroidism in a child with the 22q11.2 deletion syndrome. J Pediatr Endocrinol Metab. 2006 Jul;19(7):943-6.

Sobin C, Monk SH, Kiley-Brabeck K, Khuri J, Karayiorgou M. Neuromotor deficits in children with the 22q11 deletion syndrome. Mov Disord. 2006 Sep 21.

Arinami T. Analyses of the associations between the genes of 22q11 deletion syndrome and schizophrenia. J Hum Genet. 2006 Sep 13.

Katzman PJ, Smoot LB, Cox GF. Cardiac Registry Screening for DiGeorge Critical Region Deletion Using Loss of Heterozygosity Analysis. Pediatr Dev Pathol. 2006 Jul-Aug;9(4):266-79.

Robertson MM, Shelley BP, Dalwai S, Brewer C, Critchley HD. A patient with both Gilles de la Tourette's syndrome and chromosome 22q11 deletion syndrome: clue to the genetics of Gilles de la Tourette's syndrome? J Psychosom Res. 2006 Sep;61(3):365-8.

Vorstman JA, Morcus ME, Duijff SN, Klaassen PW, Heineman-de Boer JA, Beemer FA, Swaab H, Kahn RS, van Engeland H. The 22q11.2 Deletion in Children: High Rate of Autistic Disorders and Early Onset of Psychotic Symptoms. J Am Acad Child Adolesc Psychiatry. 2006 Sep;45(9):1104-1113.

Dose-Dependent Interaction of Tbx1 and Crkl and Locally Aberrant RA Signaling in a Model of del22q11 Syndrome.,Guris DL, Duester G, Papaioannou VE, Imamoto A. Dev Cell. 2006 Jan;10(1):81-92.

Crkl deficiency disrupts fgf8 signaling in a mouse model of 22q11 deletion syndromes. Moon AM, Guris DL, Seo JH, Li L, Hammond J, Talbot A, Imamoto A. Dev Cell. 2006 Jan;10(1):71-80.

Transmission disequilibrium test provides evidence of association between promoter polymorphisms in 22q11 gene DGCR14 and schizophrenia. Wang H, Duan S, Du J, Li X, Xu Y, Zhang Z, Wang Y, Huang G, Feng G, He L. J Neural Transm. 2006 Jan 25.

Velo-Cardio-Facial syndrome at the psychiatry consulting-liaison service in a general hospital. Fernandez-Egea E, Ferrer A, Torrebadell M, Carrio A. Actas Esp Psiquiatr. 2006 Jan-Feb;34(1):67-8

Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations. Arnold JS, Werling U, Braunstein EM, Liao J, Nowotschin S, Edelmann W, Hebert JM, Morrow BE. Development. 2006 Feb 1.

FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities. Yakut T, Kilic SS, Cil E, Yapici E, Egeli U. Pediatr Surg Int. 2006 Feb 4;:1-4.

Prospective study of 22q11 deletion analysis in fetuses with excess nuchal translucency.Donnenfeld AE, Cutillo D, Horwitz J, Knops J. Am J Obstet Gynecol. 2006 Feb;194(2):508-11.

Variable phenotype and associations in chromosome 22q11.2 microdeletion.Derbent M, Bikmaz YE, Yilmaz Z, Tokel K. Am J Med Genet A. 2006 Feb 6.

Symptomatic anal anomalies in chromosome 22q11 deletion syndrome: a report of three patients. Al-Mudaffer M, Puri P, Reardon W. Pediatr Surg Int. 2006 Feb 17.

The neuropsychological phenotype of velocardiofacial syndrome (VCFS): relationship to psychopathology. Lajiness-O'Neill R, Beaulieu I, Asamoah A, Titus JB, Bawle E, Ahmad S, Kirk JW, Pollack R. . Arch Clin Neuropsychol. 2006 Feb;21(2):175-84.

SAPHO osteomyelitis and sarcoid dermatitis in a patient with DiGeorge syndrome. Jyonouchi H, Lien KW, Aguila H, Spinnato GG, Sabharwal S, Pletcher BA. Eur J Pediatr. 2006 Feb 21.

Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome. Bish JP, Pendyal A, Ding L, Ferrante H, Nguyen V, McDonald-McGinn D, Zackai E, Simon TJ. Neurosci Lett. 2006 Mar 2.

Genetic Syndromes and Outcome After Surgical Correction of Tetralogy of Fallot. Michielon G, Marino B, Formigari R, Gargiulo G, Picchio F, Digilio MC, Anaclerio S, Oricchio G, Sanders SP, Di Donato RM. Ann Thorac Surg. 2006 Mar;81(3):968-975.

No Evidence for an Effect of COMT Val158Met Genotype on Executive Function in Patients With 22q11 Deletion Syndrome. Glaser B, Debbane M, Hinard C, Morris MA, Dahoun SP, Antonarakis SE, Eliez S. Am J Psychiatry. 2006 Mar;163(3):537-9.

Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions. Uddin RK, Zhang Y, Siu VM, Fan YS, O'reilly RL, Rao J, Singh SM. BMC Med Genet. 2006 Mar 2;7(1):18.

Tracheobronchial anomalies in chromosome 22q11.2 microdeletion. Bertolani MF, Bergamini BM, Predieri B, Mirmassoumi S, Bertolani P, Sacco O, Ferrari P. Am J Med Genet A. 2006 Mar 8.

Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). McDonald-McGinn DM, Reilly A, Wallgren-Pettersson C, Hoyme HE, Yang SP, Adam MP, Zackai EH, Sullivan KE. Am J Med Genet A. 2006 Mar 10.

Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications. Debbane M, Glaser B, David MK, Feinstein C, Eliez S. Schizophr Res. 2006 Mar 15.

Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome. Shashi V, Keshavan MS, Howard TD, Berry MN, Basehore MJ, Lewandowski E, Kwapil T. Clin Genet. 2006 Mar;69(3):234-8.

Prenatally diagnosed pulmonary atresia with ventricular septal defect: echocardiography, genetics, associated anomalies and outcome. Vesel S, Rollings S, Jones A, Callaghan N, Simpson J, Sharland G. Heart. 2006 Mar 17.

Upper airway asymmetry in velo-cardio-facial syndrome. Chegar BE, Tatum SA 3rd, Marrinan E, Shprintzen RJ. Int J Pediatr Otorhinolaryngol. 2006 Mar 18.

PCR screening for 22q11.2 microdeletion: Development of a new cost-effective diagnostic tool. Gioli-Pereira L, Pereira AC, Mesquita SM, Lopes AA, Krieger JE. Clin Chim Acta. 2006 Mar 28.

Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study. Campbell LE, Daly E, Toal F, Stevens A, Azuma R, Catani M, Ng V, van Amelsvoort T, Chitnis X, Cutter W, Murphy DG, Murphy KC. Brain. 2006 Mar 28.

22q11.2 deletion mosaicism in patients with conotruncal heart defects. Jianrong L, Yinglong L, Xiaodong L, Cuntao Y, Bin C, Bo W. Birth Defects Res A Clin Mol Teratol. 2006 Mar 30.

Maturational alterations of peripheral T cell subsets and cytokine gene expression in 22q11.2 deletion syndrome. Kanaya Y, Ohga S, Ikeda K, Furuno K, Ohno T, Takada H, Kinukawa N, Hara T. Clin Exp Immunol. 2006 Apr;144(1):85-93.

Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field. Nowotschin S, Liao J, Gage PJ, Epstein JA, Campione M, Morrow BE. Development. 2006 Apr;133(8):1565-73.

Prevalence of ADHD in Children with Velocardiofacial Syndrome: A Preliminary Report. Zagursky K, Weller RA, Jessani N, Abbas J, Weller EB. Curr Psychiatry Rep. 2006 Apr;8(2):102-107.

Velocardiofacial Syndrome: Is There a Neuropsychiatric Phenotype? Jolin EM, Weller EB, Weller RA. Curr Psychiatry Rep. 2006 Apr;8(2):96-101.

A Biologic Model to Study the Genetics of Psychotic, Mood, and Anxiety Disorders: The Velocardiofacial Syndrome. Jolin EM, Weller EB, Weller RA. Curr Psychiatry Rep. 2006 Apr;8(2):90-95.

FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities. Yakut T, Kilic SS, Cil E, Yapici E, Egeli U. Pediatr Surg Int. 2006 Apr;22.

2005

*Defining the Clinical Spectrum of Deletion 22q11.2. Ross, N. H., Shprintzen, R. J. The Journal of Pediatrics, July 2005. pp. 90-96.

*A Multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children. Simon, et al. Development and Psychopathology, 17(2005) pp 753-784.

*The neuropsychological phenotype of velocardiofacial syndrome (VCFS): Relationship to psychopathology. Lajiness-O'Neill, R. et al. Archives of Clinical Neuropsychology 2005.

*Clinical features of 78 adults with 22q11 deletion syndrome. Bassett, A., Chow, E. Husted, J. Weksberg, R. Caluseriu, O. Webb, G. Gatzoulis M. Americal Journal of Medical Genetics October 5, 2005.

*Visuospatial and Numerical Cognitive Deficits in Children with Chromosome 22q11.2 Deletion Syndrome. Simon, T. Bearden, C. McDonald-McGinn, D., Zackai, E.

*Maladaptive Conflict Monitoring as Evidence for Executive Dysfunction in Children with Chromosome 22q11.2 Deletion Syndrome. Bish, J., Ferrante, S., McDonald-McGinn, D., Zackai, E., Simon, T. Developmental Science.

*Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study. Simon, T., Ding, L., Bish, J. McDonald-McGinn, D., Zackai, E., Gee, J. NeuroImage 25 (2005) 169-180.

Juvenile dermatomyositis in association with 22q11.2 deletion syndrome. Okiyama N, Yamamoto T, Watanabe K, Yokozeki H, Nishioka K. Br J Dermatol. 2005 Jun;152(6):1370-2.

Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney. Wieser R, Fritz B, Ullmann R, Muller I, Galhuber M, Storlazzi CT, Ramaswamy A, Christiansen H, Shimizu N, Rehder H. Hum Mutat. 2005 Jun 14.

COMT Val(108/158)Met Modifies Mismatch Negativity and Cognitive Function in 22q11 Deletion Syndrome.Baker K, Baldeweg T, Sivagnanasundaram S, Scambler P, Skuse D. Biol Psychiatry. 2005 Jun 1.

Lower prepulse inhibition in children with the 22q11 deletion syndrome. Sobin C, Kiley-Brabeck K, Karayiorgou M. Am J Psychiatry. 2005 Jun;162(6):1090-9.

Congenital heart defects and chromosomal anomalies including 22q11 microdeletion (CATCH 22). Soares G, Alvares S, Rocha C, Teixeira MF, Mota MC, Reis MI, Feijo MJ, Lima MR, Pinto MR. Rev Port Cardiol. 2005 Mar;24(3):349-71.

Obstetrics: 22q11 deletion syndrome with truncus arteriosus, hypoplastic left ventricle, VSD, clubfoot, sandal toes, cleft palate, butterfly vertebrae. Harris RD. Ultrasound Q. 2005 Jun;21(2):125-6.

Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome. Fernandez L, Lapunzina P, Pajares IL, Criado GR, Garcia-Guereta L, Perez J, Quero J, Delicado A. Am J Med Genet A. 2005 May 11.

Polymicrogyria versus pachygyria in 22q11 microdeletion. de Vries BB. Am J Med Genet A. 2005 May 10.

Annotation: velo-cardio-facial syndrome. Murphy KC. J Child Psychol Psychiatry. 2005 Jun;46(6):563-71.

The breakpoint cluster region gene on chromosome 22q11 is associated with bipolar disorder. Hashimoto R, Okada T, Kato T, Kosuga A, Tatsumi M, Kamijima K, Kunugi H. Biol Psychiatry. 2005 May 15;57(10):1097-102.

Behavior and corpus callosum morphology relationships in velocardiofacial syndrome (22q11.2 deletion syndrome). Antshel KM, Conchelos J, Lanzetta G, Fremont W, Kates WR. Psychiatry Res. 2005 Apr 30;138(3):235-45.

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2. Rauch A, Zink S, Zweier C, Thiel CT, Koch A, Rauch R, Lascorz J, Huffmeier U, Weyand M, Singer H, Hofbeck M. J Med Genet. 2005 Apr 14.

Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous disease. Staple L, Andrews T, McDonald-McGinn D, Zackai E, Sullivan KE. Pediatr Allergy Immunol. 2005 May;16(3):226-30.

Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome. Bearden CE, Jawad AF, Lynch DR, Monterossso JR, Sokol S, McDonald-McGinn DM, Saitta SC, Harris SE, Moss E, Wang PP, Zackai E, Emanuel BS, Simon TJ. Neuropsychol Dev Cogn C Child Neuropsychol. 2005 Feb;11(1):109-17.

*Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study. Simon, T. J., Ding, L., Bish, J. P., McDonald-McGinn, D., Zackai, E., Gee, J., NeuroImage 25 (2005) 169-180.

*Familial Recurrence of Nonsyndromic Congenital Heart Defects in First Degree Relatives of Patients with Deletion 22q11.2 Digilio, M.C., Marino, B., Capolino, R., Angioni, A., Sarkozy, S., Roberti, M.C., Conti, E., de Zorzi, A., Dallapiccola, B., Am J Med Genet 134A:158-164 (2005).

*Association of Deletion 22 and Trisomy 21: A Likely Random Association in Patients with Conotruncal Heart Defects. Marino, M., Am J. Med. Genet. 134A:1-2 (2005).

*Adolescents and young adults with 22q11 deletion syndrome: psychopathology in an at-risk group. Baker, K. D., nd Skuse, D. H. British Journal of Psychiatry. 186: 115-120. 2005.

2004

*Middle and Inner Ear Malformation in Velocardiofacial Syndrome. Devriendt, K., et al. American Journal of Medical Genetics. 131A:255-226, 2004.

*Radiographic Study of the Upper Cervical Spine int he 22q11.2 Deletion Syndrome. Ricchetti, E. T., et al. The Journal of Bone and Joint Surgery, Vol. 86-A, No. 8. August 2004.

*Brain Anatomy in Adults with Velocardiofacial Syndrome With and Without Schizophrenia. van Amelsvoort, T. et al. Arch Gen Psychiatry, Vol 61, November 2004. p. 1085-1096.

*Regional brain abnormalities in 22q11.2 deletion syndrome: association with cognitive abilities and behavioral symptoms. Bearden CE, van Erp TG, Monterosso JR, Simon TJ, Glahn DC, Saleh PA, Hill NM, McDonald-McGinn DM, Zackai E, Emanuel BS, Cannon TD. Neurocase. 2004 Jun;10(3):198-206.

*Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the Autism spectrum. Manning, M. A., Cassidy, S. B., Clericuzio C., Cherry, A. M., Schwartz, S., Hudgins, L., Enns. G. Hoyme, H. Pediatrics. Vol. 114 No. 2. August 2004.

*Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Saitta, S.C., Harris, S.E. Gaeth, A.P., Driscoll, D. A., McDonald-McGinn, D. M., Maisenbacher, M. K., Yersak, J. M., Chakraborty, P. K., Hacker, A. M., Zackai, E. H., Asahley, T., Emanuel, B. Human Molecular Genetics. Vol 13. No. 4 417-428. 2004.

* Independent De Novo 22q11.2 Deletions in First Cousins with DiGeorge/Velocardiofacial Syndrome. Saitta, S.C., Harris, S.E. McDonald-McGinn, D. M. Emanuel, B. S. Tonnesen, M. K. Zackai, E. H. Seitz, S. C., Driscoll, D. A. Am J Med Genet 124A:313-317 (2004).

*Two cases of generalized seizures and the Velocardiofacial syndrome - a clinically significant association? El Tahir, M.O., Kerr, M., Jones, R. G. Journal of Intellectual Disability Research, Volume 48, Part 7, pp 695-698, October 2004.

*Effects of a Functional COMT Polymorphism on Prefrontal Cognitive Function in Patients with 22q11.2 Deletion Syndrome. Bearden, C., Jawad, A., Lynch, D., Sokol, S., Kanes, S., McDonald-McGinn, D., Saitta, S., Harris, S., Moss, E., Wang, P., Zackai, E., Emanuel, B., Simon, T. Am J Psychiatry, 161:9, September 2004.

*The behavioural phenotype in velo-cardio-facial syndrome. Murphy, K.C., Journal of Intellectual Disability Research, Vol. 48, Part 6., pp 524-530 September 2004.

*Cognitive deficits associated with schizophrenia in velo-cardio-facial syndrome. van Amelsvoort, T., Henry, J., Morris, R., Owen, M., Liszen, D., Murphy, K., Murphy, D. Schizophrenia Research, 70 (2004) pp 223-232.

*Radiographic Study of the Upper Cervical Spine in the 22q11.2 Deletion Syndrome. Ricchetti, E., States, L., Hosalkar, H., Tamai, J., Maisenbacher, M., McDonald-McGinn, D., Zackai, E., Drummond, D. The Journal of Bone and Joint Surgery, Vol. 86-A, No. 8, August 2004.

*Prenatal diagnosis of mosaic 22q11.2 microdeletion. Chen, C., Chern, S., Lee, C, Lin, S., Chang, T., Wang, W. Prenatal Diagnosis, 2004. 24: pp 658-664.

*Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion. Kao, A., Mariani, J., McDonald-McGinn, D. Maisenbacher, M., Brooks-Kayal, A., Zackai, E., Lynch, D. Am J Med Genet, 129A:29-34, 2004.

*Thalamic reductions in children with chromosome 22q11.2 deletion syndrome. Bish, J., Nguyen, V., Ding, L., Ferrante, S., Simon, T. NeuroReport, Vol. 15, No. 9 28 June 2004, pp 1413-1415.

*Genetic, Developmental, and Physical Factors Associated with Attention Deficit Hyperactivity Disorder in Patients with Velocardiofacial Syndrome. Gothelf, D., et al. Am J Med Genet Part B (Neuropsychiatric Genetics) 126B: 116-121, 2004.

2003

*Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis. Ivanov D., et al. British Journal of Psychiatry, 183, 409-413, 2003.

*Thrombocytopenia in patients with Chromosome 22q11.2 Deletion syndrome. Lawrence, S., McDonald-McGinn, D. M., Zackai, E. H., Sullivan, K. E. The Journal of Pediatrics. p 277-8.August 2003.

*Assessment of the thymus at echocardiograophy in fetuses at risk for 22q11.2 deletion. Barrea, C. et al. Prenatal Diagnosis. 2003, 23: 9-15

*A Palindrome-Mediated Mechanism Distinguished Translocations Involving LCR-B of Chromosome 22q11.2 Gotter, AL et al. Hum Mol Genet. 2003.

*Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients. Ensenauer, R. E. et al. Am J Hum Genet. 73:1027-1040, 2003.

*Vasomotor Instability in Neonates with Chromosome 22q11 Deletion Syndrome. Shashi V., et al. Am J Med Genet 121A:231-234, 2003.

Research Letter: Screening for Celiac Disease in Patients with Deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial Syndrome). Digilio, m. C. Am J Med Genet. 121A286-288, 2003.

*Videonasopharyngoscopy in patients with 22q11.2 deletion syndrome (Shprintzen syndrome) Ysunza, A., et al, International Journal of Pediatric Otorhinolaryngology 2003 67: 911-915.

*A Population-Based Study of the 22q11.2 deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population. Botto, LD, et al. Pediatrics Vol 112 No. 1 July 2003.

*Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical cases. Digilia, MC., et al, Clinical Genetics, 63: 308-313, 2003.

*Hypoparathyroidism and facial dysmorphism as main symptoms of 22q11 deletion syndrome. Yoshikawa, H and Abe, T., Brain and Development, 25, 211-214, 2003.

*Congenital cardiac defects with 22q11 deletion. Giray, O., Ulgenalp, A., Bora, E., Saylam, G. S., Unal, N., Mese T., Suphi, H., Ercal, D. Turkish Journal of Pediatrics. 45:217-220. 2003.

*Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/Velo-cardio-facial Syndrome) Am J Med Genet 121A:286-288. 2003.

2002

* Cognitive Development in VCFS. Simon, T. J., Bearden, C. E., Moss, E. M., McDonald-McGinn, D., Zackai, E., Wang, P. P. Progress in Pediatric Cardiology 15, pp. 109-117, 2002.

*Apparently Unrelated Cytogenetic Abnormalities Among 462 Probands Referred for the Detection of del(22q) by FISH. Smith, A et al. Am J Med Genet 113:346-350, 2002.

*Search for Common Haplotypes on Chromosome 22q in Patients with Schizophrenia or Bipolar Disprder From the Faroe Islands. Jorgensen T.H. et al, Am J Med Genet (Neuropsychiatric Genetics) 114:245-252, 2002.

*Prenatal diagnosis of interruption of the aortic arch and its association with deletion of chromosome 22q11. Vole, P., et al, Ultrasound Obstet Gynecol 2002; 20: 327-331.

*Personality Profiles of Youngsters with Velo-cardio-facial syndrome. Prinzie, P, et al, Genetic Counseling, Vol. 13, No. 3, 2002 pp. 265-280.

*Genetic variation in the 22q11 locus and susceptibility to schizophrenia. Liu, H. et al, PNAS, December 23, 2002, Vol. 99, No. 26, 16859-16864.

*Genitourinary Malformations in Chromosome 22q11.2 Deletion, Wu, Hsi-Yang, et al, The Journal of Uroloogy, Vol. 168, 2564-2565, December 2002.

*The psychopathological phenotype of velo-cardio-facial-syndrome. Vogels, A., et al, Annales de Genetique, 45 (2002) 89-95

*Velo-cardio-facial Syndrome: Clinical Report of a 70-year-old woman. Verhoeven, W.M.A., et al, Am J. Med Genet 111:409-411, 2002.

*Kousseff Syndrome Caused by Deletion of Chromosome 22q11-13. Forrester, Shawnia, et al, Am J Med Genet 112:338-342, 2002.

*The psychopathological phenotype of velo-cardio-facial syndrome. Vogels, A., et al. Annales De Genetique, 45 (2002) 89-95.

*Language Skills in children with velocardiofacial syndrome (deletion 22q11.2), Glaser, Bronwyn, et al. Journal of Pediatrics, June 2002 pgs 753-758

*Genomic Disorders on 22q11, McDermid, HE, and Morrow, BE, Am J Med Genet 70:1077-1088, 2002.

*Prenatal Diagnosis of Tetralogy of Fallot Associated with Chromosome 22q11 Deletion. Oh, DC, et al, J Korean Med Sci 2002, 17: 125-8

Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome. Chow EW, et al, Biol Psychiatry, 2002 Feb 1;51(3):208-15.

*Oral Manifestations in 22q11 deletion syndrome. Klingberg, G, et al, International Journal of Pediatric Dentistry, 2002; 12: 14-23.

Association of Tetralogy of Fallot with a distinct region of del22q11.2. Kessler-Icekson G, et al, Am J Med Genet 2002 Feb 1;107(4): 294-8.

Schizophrenia and velo-cardio-facial syndrome, Murphy, KC, Lancet 2002 Feb 2;359(9304):426-30.

*Chromosome 22q11 deletion syndrome (CATCH 22): neuropsychiatric and neurophsychological aspects. Niklasson, L, et al, Developmental Medicine and Child Neurology 2002; 22:44-50.

* An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS) Henry, JC et al, Neuropsychologia 40 2002 471-478.

*The genetics of the 22q11 deletion syndrome. Jones, C and Gawronski, M.J. Progress in Pediatric Cardiology. (15) 99-101, 2002.

2001

*22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. Cuneo, BF. Current Opinion in Pediatrics 2001, 13:465-472.

*Cardiovascular Anomalies in Patients Diagnosed with a Chromosome 22q11 Deletion Beyond 6 Months of Age. McElhinney DB, et al, Pediatrics Vol. 108 No. 6., pg. E104, December 2001.

*Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wise FISHing net! McDonald-McGinn et al, Genetics in Medicine, January/February 2001 - Vol. 3. No. 1, pg 23-29.

*Prevalence of the 22q11 deletion in fetuses with conotruncal cardiac defects: A 6-year prospective study. Boudjemline, Y, et al, Journal of Pediatrics, Volume 138, No. 4., pgs 520-4 April 2001.

*Analysis of Speech Characteristics in Children with Velocardiofacial Syndrome (VCFS) and Children with Phenotypic Overlap without VCFS. D'Antonio, LL, et al, Cleft Palate-Craniofacial Journal, September 2001, Vol. 39, No. 5.

*Structural brain abnormalities associated with deletion at chromosome 22q11: Quantitative neuroimaging study of adults with velo-cardio-facial syndrome. Van Amelsvoort, T, et al, British Journal of Psychiatry, 2001, 178, 412-419.

Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Lindsay EA, et al . Nature 2001 Mar 1;410(6824):97-101

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Jerome LA, et al . Nat Genet 2001 Mar;27(3):286-91

*Children with a 22q11 deletion versus children with a speech-language impairment and learning disability: behaviour during primary school age. Swillen, A, et al. Genet Couns 2001: 12(4):309-17.

Mice Lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. Nat Genet 2001 Mar;27(3):293-8. Guris DL, et al .

*Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) Jawad, AF et al, Journal of Pediatrics, December 2001

Misclassification risk of patients with bilateral cleft lip and palate and manifestations of medial facial dysplasia: A new variant of del(22q11.2) syndrome? Am J Med Genet 2001 Apr 1;99(4):280-5. Schulze BR, et al

*Velopharengeal incompetence and chromosome 22q11 deletion. Boorman JG, et al . Lancet 2001 Mar 10;357(9258):774

*Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2. Fokstuen, S, et al. Eur J Pediatr 2001 160: 54-57

*Association of Chromosome 22q11 Deletion With Isolated Anomalies of Aortic Arch Laterily and Branching. McElhinney, DB., et al. Journal of the American College of Cardiology, Vol. 37, No. 8, pgs 2114-2119, 2001.

* A genome survey indicates a possible susceptibility locus for bipolar disorder on chromosome 22. Kelsoe, JR, et al, Proc. Natl. Acad. Sci, January 16, 2001, vol. 98, no. 2, 585-590.

*The 22q11.2 Deletion Syndrome - Chapter 2 of Advances in Pediatrics, Vol. 48, 2001. Pgs 39-73, Emanuel, BS, et al.

The DiGeorge Anomaly. Clin Rev Allergy Immunol 2001 Feb;20(1):43-60, Hong R.

Bernard-Soulier syndrome associated with 22q11.2 microdeletion. Masao Nakagawa et al . Am J Med Genet V99, Issue 4, 2001 Feb. pgs 286-288.

Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen ) syndrome and part of the phenotypical spectrum of del 22q11.2. Eur J Pediatr 2001 Jan;160(1):54-7 Fokstuen S, et al

*Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge Syndrome/velocardiofacial syndrome) Jawad, Abbas F. et al. The Journal of Pediatrics Nov 2001 Volume 139 No. 5 pgs 715-723

Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndrome Taddei I et al Pro Natl Acad Sci. USA Sept. 2001 (2): 11428-31

Mice Overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects Funke B, et al, Hum Mol Genet 2001 Oct. 15;10(22):2549-2556. Chromosomal microdeletions: dissecting del22q11 syndrome. Lindsay EA. Nat. Rev Genet 2001 Nov;2(11):858-68

Complex conotruncal heart defect, severe bleeding disorder and 22q11 deletion: a new case of Bernard-Soulier syndrome and of 22q11 deletion syndrome? Lascone MR Ital Heart J 2001 Jun;2(6):475-7

Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments. Paylor R et al. Hum Mol Genet 2001, Vol. 10, No. 23 2645-2650

*Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review. Shaikh, TH, Kurahashi H., Emanuel, BS. Genetics in Medicine, Jan/Feb 2001, Vol. 3 No. 3., pgs 6-13.

Isolated Innominate Artery in 22q11 Microdeletion. Duke C, Chan KC. Pediatr Cardiol 2001 Jan; 22(1):80-82

*The 22q11.2 deletion: From diversity to a single gene theory. De Deker, HP, et al, Genetics in Medicine, January/February 2001. Vol. 3, No.1.

*Velo-Cardio-Facial Syndrome: A Distinctive Behavioral Phenotype. Shprintzen, R. J. Mental Retardation and Developmental Disabilities Research reviews. 6: 142-147, 2000.

Clinical and immunological spectrum of partial DiGeorge syndrome. Martin Mateos MA, et al . J Investig Allergol Clin Immunol 2000 Nov-Dec;10(6):352-60

Velocardiofacial syndrome: are structural changes in the temporal and mesial temporal regions related to schizophrenia? Eliez S, et al . Am J Psychiatry 2001 Mar;158(3):447-53.

Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia. Murphy KC, Owen MJ, British Jounral of Psychiatry, 2001, 179, 397-402.

*Chromosome 22q11 deletions and severe learning disability. Jones, RG, Morley-Canellas J., British Journal of Psychiatry, 179(5): 466-a 2001.

*Velo-cardio-Facial Syndrome: Implications of Microdeletion 22q11 for Schizophrenia and Mood Disorders. Arnold, PD, et al, Am J Med Genet (Neuropsych Genet) 105:354-362, 2001.

* Graves Disease in patients with 22q11.2 deletion. Kawame, H., et al. The Journal of Pediatrics, Vol. 139., No. 6, pgs 892-895. 2001.

Association of Chromosome 22q11 Deletion with Isolated Anomalies of Aortic Arch Laterality and Branching. McElhinney, D. B., Clark, B. J., Weinberg, P. M., Kenton, M. L., McDonald-McGinn, D., Driscoll, D. A. Zackai, E. H., Goldmuntz, G. Pediatric Cardiology. Vol. 37. No. 8, 2001, p.2114-9.

2000

Fragile X Syndrome and 22q11.2 Microdeletion in the same sibship. Missirian C, et al. Am J Med Genet 2000 Dec. 11;95(4):358-60

*Chromosome 22q11 Deletion Syndrome: Update and Review of the Clinical Features, Cognitive-Behavioral Spectrum, and Psychiatric Complications. Swillen, A, Vogels, A., Devriendt K., and Fryns, J.P. Am J Med Genet Feb 2000 97(2):128-135

Velo-cardio-facial phenotype and deletion of 22q11.2 in Hungarian children. E Morava; M Czako; B Melegh; G Kosztolanyi
Clinical Genetics 2000; Volume 58, Issue 5, Page 403

Inv dup(22), del(22)(q11) and r(22) in the father of a child with DiGeorge syndrome. Bergman A, Blennow E. Eur J Hum Genet 2000 Oct 8(10)801-4.

*An Essential Role for Thymic Mesenchyme in Early T Cell Development. Suniara, RK et al. J Exp Med, March 20, 2000. Vol 191 No. 6 pgs 1051-1056.

*The 22q11 deletion Syndromes. Peter J. Scambler. Human Molecular Genetics, 2000 Vol 9 No 16 2421-2426.

*Polymicrogyria is an uncommon manifestation in 22q11.2 deletion syndrome. Kawame H, et al. Am J Med Genet 2000 Sep 4;94(1):77-8

Velocardiofacial syndrome: incidence of immune cytopenias. Duke SG, et al Arch Otolaryngol Head Neck Surg 2000 Sep;126(9):1141-5

Structural airway anomalies in patients with DiGeorge syndrome: a current review. Huang RY, Shapiro NL. Am J Otolaryngol 2000 Sept-Oct;21(5):326-30

*22q11 deletion and polymicrogyria--cause or coincidence? Worthington S, et al Clin Dysmorphol 2000 Jul;9(3):193-7

Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations. Alikasifoglu M, et al Turk J Pediatr 2000 JulSep;42(3):215-8

Patent ductus arteriosis and microdeletion 22q11 in a patient with Klinefelter Syndrome. Velagaleti GV et al. Ann Genet 2000 June 1;43(2) 105-107

Velopharyngeal insufficiency and articulation impairment in velo-cardio-facial syndrome: the influence of adenoids on phonemic development. Havkin N, Tatum SA, Shprintzen RJ Int J Pediatr Otorhinolaryngol 2000 Aug 31;54(2-3):103-10

Deficiency of the infundibular septum in patients with interrupted aortic arch and del 22q11. Marino B, et al. Cardiol Young 2000 Oct;10(4):428-9

Polydactyly in 22q11 syndrome: should it be taken into account? Sanchez-Ramon S et al. Clin Genet 2000 Jul;58(1):84-5.

*Cortical dysgenesis in 2 patients with chromosome 22q11 deletion. Bird LM, Scambler P. Clin Genet 2000 Jul;58(1):64-8.

Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2. Trost D, et al. J Med Genet 2000 Jun;37(6):452-4

Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes. Eliez S, et al Eur Child Adolesc Psychiatry 2000 Jun;9(2):109-14

*Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Shaikh, TH, et al. Hum Mol Genet 2000 Vol 9 No. 4, 489-501.

*Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome. Hopkin RJ, Schorry EK, Bofinger M, Saal HM. J Pediatr. 2000 Aug;137(2):247-249.

*Dysphagia in children with a 22q11.2 deletion: Unusual pattern found on modified barium swallow. Eicher PS, McDonald-McGinn DM, Fox CA, Driscoll DA, Emanuel BS, Zackai EH. J Pediatr. 2000 Aug;137(2):158-164.

*Communication disorders in the 22Q11.2 microdeletion syndrome. Solot CB, Knightly C, Handler SD, Gerdes M, McDonald-McGinn DM, Moss E, Wang P, Cohen M, Randall P, Larossa D, Driscoll DA. J Commun Disord. 2000 May-Jun;33(3):187-203

Tetracuspid aortic valve in a patient with 22q11.2 microdeletion. Nakagawa M, Okamoto N, Fujino H, Watanabe N, Okuno M. Am J Med Genet. 2000 Jul 3;93(1):74-5.

Transient congenital hypoparathyroidism and 22q11 deletion. Garcia-Garcia E, Camacho-Alonso J, Gomez-Rodriguez MJ, del Castillo E, Martinez-Aedo, Lopez-Siguero JP. J Pediatr Endocrinol Metab. 2000 Jun;13(6):659-61.

T cell receptor repertoire and function in patients with DiGeorge syndrome
and velocardiofacial syndrome. Pierdominici M, Marziali M, Giovannetti A, Oliva A, Rosso R, Marino B, Digilio MC, Giannotti A, Novelli G, Dallapiccola B, Aiuti F, Pandolfi F. Clin Exp Immunol. 2000 Jul;121(1):127-32.

The 22q11.2 deletion syndrome: More answers but more questions. Fernhoff PM. J Pediatr. 2000 Aug;137(2):145-147.

Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2. Trost D, Wiebe W, Uhlhaas S, Schwindt P, Schwanitz G. J Med Genet. 2000 Jun;37(6):452-4.

Presence of 22q11 deletion in postadenoidectomy velopharyngeal insufficiency. Perkins JA, Sie K, Gray S. Arch Otolaryngol Head Neck Surg. 2000 May;126(5):645-8.

*Frequent association of 22q11.2 deletion with tetralogy of fallot. Maeda J, Yamagishi H, Matsuoka R, Ishihara J, Tokumura M, Fukushima H, Ueda H, Takahashi E, Yoshiba S, Kojima Y. Am J Med Genet. 2000 Jun 5;92(4):269-72.

Chromosome 22q11 deletion complicated by dissecting pulmonary arterial aneurysm and jejunal atresia in an infant.Yamanaka S, Tanaka Y, Kawataki M, Ijiri R, Imaizumi K, Kurahashi H. Arch Pathol Lab Med. 2000 Jun;124(6):880-2.

DiGeorge syndrome with Graves' disease: A case report. Kawamura T, Nimura I, Hanafusa M, Fujikawa R, Okubo M, Egusa G, Amakido M. Endocr J. 2000 Feb;47(1):91-5.

Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes.Eliez S, Palacio-Espasa F, Spira A, Lacroix M, Pont C, Luthi F, Robert-Tissot C, Feinstein C, Schorderet DF, Antonarakis SE, Cramer B.
Eur Child Adolesc Psychiatry. 2000 Jun;9(2):109-14.

Duane retraction syndrome, a new feature in 22q11 deletion syndrome? Versteegh FG, von Lindern JS, Kemper J, Eichhorn E, Simonsz HJ, Wouters CH. Clin Dysmorphol. 2000 Apr;9(2):135-7.

Three patients with different phenotypes in a family with chromosome 22q11.2 deletions. Akiba T, Odake A, Shirahata E, Matsunaga A, Sakamoto M, Yazaki N. Pediatr Int. 2000 Apr;42(2):183-5.

Velo-cardio-facial syndrome: A distinctive behavioral phenotype. Shprintzen RJ. Ment Retard Dev Disabil Res Rev. 2000;6(2):142-147.

DiGeorge anomaly: a comparative study of the clinical and immunologic characteristics of patients positive and negative by fluorescence in situ hybridization.Kornfeld SJ, Zeffren B, Christodoulou CS, Day NK, Cawkwell G, Good RA.
J Allergy Clin Immunol. 2000 May;105(5):983-7.

Patients' age at time of testing for chromosome 22q11 microdeletions: missed opportunities for genetic counseling. Liu Y, Fallet S, Koppel R. Pediatr Cardiol. 2000 Mar-Apr;21(2):183

Research on behavioral phenotypes: velocardiofacial syndrome (deletion 22q11.2). Wang PP, Woodin MF, Kreps-Falk R, Moss EM. Dev Med Child Neurol. 2000 Jun;42(6):422-7. Review.

*Chromosome 22q11 Deletions are Not Found in Autistic Patients Identified Using Strict Diagnostic Criteria
Am J Med Genet (Neuropsychiatric Genetics) 96:15-17 2000 Ogilvie, CM, Moore, J, Daker, M, Palferman S, Doeherty Z, and IMGSAC

*Dual-Probe fluorescence in situ hybrizidation assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci. Berend SA, et al. Am J Med Genet, Vol 91(4) 313-317, 2000.

1999

* 22q11 deletion Syndrome: A genetic subtype of schizophrenia. Bassett, A. S., Chow, E. W. C. Biol. Psychiatry. 46:882-891. 1999.

*Recent Developments in the genetics of schizophrenia. Shastry, B. S. Neurogenetics. 2:149-154. 1999.

Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability? Swillen A, et al Neuropsychol Dev Cogn Sect C Child Neuropsychol 1999 Dec;5(4):230-41

*Schizophrenia and hypocalcaemia: variable phenotype of deletion at chromosome 22q11. Chow, L.Y., Garce-Barcelo, M., Wing, Y.K., Waye, M.Y., Australian and New Zealand Journal of Psychiatry, 1999; 33:760-762.

*Deletion 22q11 in Patients with Interrupted Aortic Arch. Marino, Bruno MD; et al. Am J Cardio 84(3) August 1999 360-361

*Closing Time for Catch 22. Burn, John. J Med Genet 36(10) October 1999

*Chromosome 22q11 Microdeletion and Congenital Heart Disease - a Survey in a Pediatric Population. Yong, DEJ, et al. Eur J Ped 1999 158: 566-570

*Psychiatric Inpatients and Chromosome Deletions within 22q11.2. Sugama, S, et al. J Neurol Neurosurg Psychiatry December1999 67:803-806.

*High Rates of Schizophrenia in Adults with Velo-cardio-facial Syndrome. Murphy, Kieran C, et al. Arch Gen Psychiatry 56(10) October 1999.

*Audiological findings in patients with microdeletion 22q11. Digilio MC, Pacifico C, Tieri L, Marino B, Giannotti A, Dallapiccola B.
Br J Audiol. 1999 Oct;33(5):329-33.

*Hearing Loss and Otitis Media in Velo-Cardio-Facial Syndrome. Reyes, MRT, et al, International Journal of Pediatric Otorhinolaryngology. 47, 1999, 227-233.

*A Search for Chromosome 22q11.2 Deletions in a Series of 176 Consecutively Catheterized Patients with Congenital Heart Disease: No Evidence for Deletions in Non-syndromic Patients. Borgmann S, et al. Eur J Ped 1999 158: 958-963

*Transplantation pf Thymus Tissue in Complete DiGeorge Syndrome. Markert, M. Louise, et al. N Engl J Med Vol 341(16) October 1999 1180-1189.

Prenatal Detection of a Tetralogy of Fallot with origin of the Left Pulmonary Artery from the Ascending Aorta in a Familial 22q11 Microdeletion. Prenatal Diagnosis 19: 260-262 1999 Saliba Z, Le Bidois J, Sidi D., Kachaner J, and Bonnet D.

Low Frequency of Inherited Deletions of 22q11. Smith A, Robson L.Am J Med Genet 85:513-514 1999

*Gastrointestinal Tract Anomalies in Velocardiofacial Syndrome. Enns Gregory M et al. Am J Med Genet 84:382-383 1999.

*Early Speech and Language Development in Children with Velocardiofacial Syndrome. Scherer NJ, D'Antonio LL, Kalbfleish, JH. Am J Med Genet (Neuropsychiatric Genetics) 88: 714-723 1999.

*Microdeletion 22q11.2: Clinical Data and Deletion Size. Kerstjens-Frederikse WS et al. J Med Genet 36(9) Sept 1999: 721-723.

*Clinical Relevance of Monosomy 22q11.2 in Children with Pulmonary Atresia and Ventricular Septal Defect. Hofbeck M, et al. Eur J Pediatr 1999 158: 302-307.

Clinical Characteristics of Children with Hypoparathyroidism due to 22q11.2 Microdeletion. Eur J Pediatr 1998 157: 34-38. Adachi M, et al

The Behavioural Phenotype in Velocardiofacial Syndrome. Murphy, KC; Owen MJ. J Med Genet 35 Sept 1998 17S

*Psychoeducational Profile of the 22q11.2 Microdeletion: A Complex Pattern. Moss, EM et al. Journal of Pediatrics Feb 1999.

*Microdeletion 22q11 and Oesophageal Atresia, Digilio, MC, et al. J Med Genet 1999;36:137-139.

*Prenatal Detection of a Tetralogy of Fallot with Origin of the Left Pulmonary Artery from the Ascending Aorta in a Familial 22q11 Microdeletion. Saliba Z, et al. Prenat Diagn 19: 260-262 1999.

Increased Incidence of Renal Anomalies in Patients with Chromosome 22q11 Microdeletion. Teratology 59:20-22 1999. Stewart TL, Irons MB, Cowan JM, Bianchi DW

Der(22) syndrome and Velocardiofacial Syndrome/DiGeorge Syndrome share a 1.5-Mb Region of Overlap on Chromosome 22q11. Funke, B et al. Am J Med Genet 1999 Mar;64(3):747-58

Aortic Arch Anomalies Associated with Chromosome 22q11 Deletion (CATCH 22). Momma K, et al. Pediatr Cardiol 1999 Mar-Apr;20(2):97-102

A Molecular Pathway Revealing a Genetic Basis for Human Cardiac and Craniofacial Defects. Yamagishi H, et al. Science 1999 Feb 19;283(5405):1158-61

*Increased Incidence of Renal Anomalies in Patients with Chromosome 22q11 Microdeletion. Stewart TL, et al. Teratology 1999 Jan;59(1):20-2

Clinical Characteristics of Schizophrenia Associated with Velocardiofacial Syndrome. Gothelf D., et al. Schizophr Res 1999 Jan 11;35(2):105-12

Using Birth Defects Epidemiology to take CHARGE. Lin, Angela E. Teratology 60:332-333, 1999

Hemophagocytic Lymphohistiocytosis in a patient with deletion of 22q11.2. Arico M, Bettinelli A, Maccario R, Clementi R, Bossi G, Danesin C. Am J Med Genet 87:329-330 1999

Microdeletion 22q11 and Oesophageal Atresia. Digilio, M., Marino, B., Bagolan, P., Giannotti, A., Dallapiccola, B. J Med Genet 1999 36: 137-139.

*Patient With a 22q11.2 Deletion With No Overlap of the Minimal DiGeorge Syndrome Critical Region (MDGCR). McQuade, L et al. Am J Med Genet 86:27-33 1999.

*Cognitive and Behavior Profile of Preschool Children with Chromosome 22q11.2 Deletion. Gerdes, M, et al. Am J Med Genet 85:127-133 1999.

*Low Frequency of Inherited Deletions of 22q11. Smith, A. Am J Med Genet 85:513-514 1999.

*Frequency and predictive value of 22q11 deletion {Letters to the Editor} Liling, J. et al, J Med Genet Vol. 36.(10) October 1999. 794-795.

*Phenotype of Adults With the 22q11 Deletion Syndrome: A Review. Cohen E, et al. Am J Med Genet 86:359-365 1999.

*Qualitative MRI Findings in Adults with 22q11 Deletion Syndrome and Schizophrenia. Chow, E., Mikulis, D., Zipursky, R., Scutt, L., Weksburg, R., Bassett. A. Biol. Psychiatry. 46:1436-1442. 1999.

1998

* Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes (DiGeorge Syndrome/Velocardiofacial Syndrome). Sullivan, K. E., Jawad, A. F., Randall, P., Driscoll, D. A., Emanuel, B. S., McDonald-McGinn, D. M., Zackai, E. H. Clinical Immunology and Immunopathology. Vol. 86. No. 2. February. pp. 141-146. 1998.

*Polyhydramnios as a Prenatal Symptom of the DiGeorge/Velo-Cardio Facial Syndrome. Devriendt K, et al. Prenatal Diagnosis, Vol. 18:1: 68-72 1998.

*Prenatal Diagnosis by FISH of a 22q11 deletion in two families. Portnoi, Marie-France et al. J Med Genet 35(2) February 1998 165-168

*Monozygotic Twins Concordant for Cayler Syndrome. Rauch A, et al. Am J Med Genet 75:113-117 1998

*Incidence and Significance of 22q11.2 Hemizygosity in Patients with Interrupted Aortic Arch. Rauch A, et al. Am J Med Genet 78:322-331 1998.

*Velo-cardio-facial syndrome, schizophrenia and deletion at chromosome 22q11. Chow, L.Y., Waye, M.M.Y, Garcia-Barcelo, M., Chui, H.F.K., Fung, K.P., Lee, C.Y., Journal of Intellectual Disability Research, Vol. 42, Part 2, pp 184-188, April 1998

*22q11.2 Deletions in a Series of Patients with Non-Selective Congenital Heart Defects: Incidence, Type of Defects and Parental Origin. Fokstuen S, et al. Clin Genet 1998 53:63-69.

*Juvenile Rheumatoid Arthritis and del(22q11) Syndrome: A Non-random Association. Verloes, Alain, et al. J Med Genet 35(11) November 1998 943-947.

*On Cognitive Variability in Velocardiofacial Syndrome: Profound Mental Retardation and Autism. Kozma, C. Am J Med Genet (Neuropsychiatric Genetics) 81(269-270 1998.

*Deletion of 22q11 in Two Brothers with Different Phenotype. Kasprzak L, et al. Am J Med Genet 75:288-291 1998.

*Subglottic Web in a Mother and Son with 22q11.2 Deletion. Marble, M, et al. Am J Med Genet 75:537 1998

*Molecular and Clinical Study of 183 Patients with Conotruncal Anomaly Face Syndrome Matsuoka R, et al. Hum Genet 1998 103: 70-80.

*The Behavioral Phenotype in Velo-Cardio-Facial Syndrome. Murphy KC, Owen MJ. J Med Genet 35(1S) September 1998

*Clinical Characteristics of Children with Hypoparathyroidism due to 22q11.2 Microdeletion. Adachi M, et al. Eur J Ped 1998 157:34-38.

*Anterior Laryngeal Webs and 22q11 Deletions. Stoler JM, Ladoulis M, Holmes LB. Am J Med Genet 79:152 1998

*Report of a New Patient with Transposition of the Great Arteries With Deletion of 22q11.2 Marble, M et al. Am J Med Genet 78:317-318 1998.

*Phenotypic Discordance in Monozygotic Twins with 22q11.2 Deletion. Yamagishi, H, et al. Am J Med Genet 78:319-321 1998.

*A Population Study of Chromosome 22q11 Deletions in Infancy. Goodship J, et al. Arch Dis Child 1998 Oct;79(4):348-51

The Velo-cardio-facial Syndrome; The Otohinolaryngeal Manifestations and Implications. Int J Pediatr Otorhinolaryngol 1998 Oct 2:45(2):133-41. Vantrappen G, et al

Midline Brain Anomalies and Schizophrenia in People with CATCH 22 Syndrome. Vataja R, Elomaa E. Br J Psychiatry 1998 Jun;172:518-20

*Frontonasal Malformation and Deletion of 22q11. Kirkpatrick, SJ, Pauli, RM. Am J Med Genet 75:443-444 1998

*Frequency of Inherited deletions of 22q11. Thompson, PW, Davies, SJ. J Med Genet 1998 35: 789

*The Annual Incidence of DiGeorge/velocardiofacial syndrome Devriendt, K, Fryns, JP, Mortier, G. J Med Genet 1998 35: 789.

*Growth Hormone Deficiency in Patients with a 22q11.2 Deletion: Expanding the phenotype. Weinzimer, S., McDonald-McGinn D., Driscoll, D., Emanuel, B., Zackai, E., Moshang, T. 1998 American Acadamy of Pediatrics

*22q11 Deletion Syndrome in Adults with Schizophrenia. Bassett, A., Hodgkinson, K., Chow., E., Correia, S., Scutt, L., Weksberg, R. Am J Med Genet 81:328-337 1998.

*Deletion 22q11 : A Newly Recognized Cause of Behavioral and Psychiatric Disorders. McCandless, S., Scott, J., Robin, N. Arch Pediatr Adolesc Med vol 152 May 1998.

*Counseling Families with Chromosome 22q11 Deletions: The catch in CATCH -22. Bristow, J., Bernstein H. JACC Vol 32 499-501 August 1998.

*Craniostenosis and chromosome 22q11 deletion. Dean, John CS, et al. J Med Genet April 1998, Vol 35(4) pg 346.

*Prevalence of 22q11 region Deletions in Patients with Velopharengeal Insufficiency. Zori RT , et al. Am J Med Genet 77: 8-11 1998

*Seven New cases of Cayler Cardiofacial Syndrome with Chromosome 22q11.2 Deletion, Including a Familial Case. Bawle, EV et al. Am J Med Genet 79:406-410 1998.

*Familial Deletions of Chromosome 22q11: The Leuven Experience. Fryns, JP Et al. Am J Med Genet 80:531-532 1998

*Chromosome 22q11.2 Interstitial Deletions Among Childhood-Onset Schizophrenics and "Multidimentionally Impaired". Yan W et al. Am J Med Genet (Neuropsychiatic Genetics) 81:41-43 1998.

*Further delineation of the Opitz G/BBB Syndrome. Report on an Infant with Complex Congenital Heart Disease and Bladder Exstrophy, and Review of the Literature. Jacobseon, Z. et al, Am J Med Genet 78:294-299 1998.

*CHARGE Syndrome: Report of 47 Cases and Review. Tellier, AL. et al, Am J Med Genet 76:402-409 1998.

* 22q11deletions in patients with conotruncal heart defects. Worthington, S., Bower, C., Harrop, K., Loh, J., Walpole, I. J. Paediatr. Child Health, 1998. 34, 438-443.

*Velo-cardio-facial syndrome, schizophrenia and deletion at chromosome 22q11. Chow, L. Y., Waye M. Y., Garcia-Barcelo, M., Chui H. F. K., Fung, K. P., Lee, C. Y. Journal of Intellectual Disability Research. Vol. 42, Part 2. pp 184-188 April 1998.

*A Genome-Wide Search for Schizophrenia Susceptibility Geners. Shaw, S. H. et al. American Journal of Medical Genetics. (Neuropsychiatric Genetics) 81:364-376, 1998.

1997

*Skeletal anomalies and Deformities in Patients with Deletions of 22q11. Ming JE et al. Am J Med Genet 72:210-215 1997.

*Another Critical Region for Deletion of 22q11: A Study of 100 Patients. Kurhashi H., et al. Am J Med Genet 72:180-185 1997.

Tricuspid Atresia and 22q11 Deletion. Marino B, et al. Am J Med Genet 72:40-42 1997.

*Linkage Studies Suggest a Possible Locus for Bipolar Disorder Near the Velo-Cardio-Facial Syndrome Regiona on Chromosome 22. Lachman, HM, et al., Am J Med Genet. 74(121-128, 1997.

*Prenatal Diagnosis of 22q11 deletions: a Series of Five Cases with Congenital Heart Defects. Raymond FL, Simpson JM, Mackie M, Sharland GK. J Med Genet 34(8) August 1997 679-682.

*Renal Abnormalities on Obstetric Ultrasound as a presentation of DiGeorge Syndrome. Goodship J, Robson SC, Sturgiss S, Cross LE, Wright, C. Prenatal Diagnosis, Vol 17:9: 867-870 1997.

*Nasal Dimple as Part of the 22q11.2 Deletion Syndrome. Gripp KW, McDonald-McGinn DM, Driscoll D, Reed LA, Emanuel BS, Zackai EH. Am J Med Genet 69:290-292 1997.

*Limb Anomalies in DiGeorge and CHARGE Syndromes. Prasad C, Quackenbush EJ, Whiteman D, Korf B. Am J Med Genet 68:179-181 1997.

*Evolution of Latent Hypoparathyroidism in Familial 22q11 Deletion Syndrome. Cuneo BF, Driscoll DA, Gidding SS, Langman CB. Am J Med Genet 69:50-55 1997.

*Development of the Thymus. Bockman DE. Microscopy Research and Technique 38:209-215 1997.

*Enlarged Sylvian Fissures in Infants with Interstitial Deletion of Chromosome 22q11.Bingham PM, et al. Am J Med Genet (NG) 74:538-543 1997.

*Deletion of Chromosome 22q11 and Pseudohypoparathyroidism.Craigen WJ ,et al. Am J Med Genet 72:63-65 1997.

*Idiopathic Thrombocytopenic Purpura in Two Mothers of Children with DiGeorge Sequence: A New Component Manifestation of Deletion 22q11? Levy A, et al. Am J Med Genet 69:356-359 1997.

*Laryngeal Atresia Type III (Glottic Web) With 22q11.2 Microdeletion: Report of Three Patients. Fokstuen S, et al. Am J Med Genet 70:130-133 1997.

*Anal Anomalies: An Uncommon feature of velocardiofacial (Shprintzen) Syndrome? Worthington S, Colley A, Fagan K. Dai K, Lipson AH. J Med Genet 34(1) January 1997 79-82.

*Radial Aplasia and chromosome 22q11 deletion. Digilio MC, et al. J Med Genet 34(1) November 1997 942-944.

*Prenatal Diagnosis of 22q11 Microdeletion. Levy-Mozziconacci A, Piquet C, Heurtevin PC, Philip N. Prenat Diagnosis vol 17:11 1033-1037 1997.

*Spectrum of Clinical Features Associated with Interstitial Chromosome 22q11 Deletions: A European Collaborative Study. Ryan AK, et al. J Med Genet 34(10) October 1997 798-804.

*Velocardiofacial Manifestations and Microdeletions in Schizophrenic Patients. Gothelf, D et al. Am J Med Genet 72:455-461 1997.

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. Swillen A, et al. J Med Genet 34(6) June 1997 453-458.

*Features of DiGeorge Syndrome and CHARGE association in five patients.de Lonlay-Debeney P, et al. J Med Genet 34(12) December 1997 986-989.

*Arthritis Associated with Deletion of 22q11.2, More common that previously suspected. Keenan, G., Sullivan, K. McDonald-McGinn, D., Zackai, E. American Journal of Medical Genetics 71:488, 1997.

pre-1996

*Prevalence of 22q11 Microdeletion. Du Montcel, ST, et al J Med Genet 33(8) August 1996 719.

*Cerebellar Atrophy in a Patient with Velocardiofacial Syndrome.Lynch DR, et al. J Med Genet 32(7) July 1995 561-563.

*Velocardiofacial Syndrome: Learning Difficulties and Intervention.Kok LL, Solman RT. J Med Genet 32(8) August 1995 612-618.

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