Lindsay EA: Chromosomal microdeletions: dissecting del22q11 syndrome. Nat Rev Genet. 2001, 2: 858-868. 10.1038/35098574.
Article
CAS
PubMed
Google Scholar
Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer , Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Stewart F, Van Essen T, Patton M, Paterson J, Scambler PJ: Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997, 34: 798-804. 10.1136/jmg.34.10.798.
Article
CAS
PubMed
PubMed Central
Google Scholar
Robin NH, Shprintzen RJ: Defining the clinical spectrum of deletion 22q11.2. J Pediatr. 2005, 147: 90-96. 10.1016/j.jpeds.2005.03.007.
Article
PubMed
Google Scholar
Carey AH, Kelly D, Halford S, Wadey R, Wilson D, Goodship J, Burn J, Paul T, Sharkey A, Dumanski J, Nordenskjold M, Williamson R, Scambler PJ: Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J Hum Genet. 1992, 51: 964-970.
CAS
PubMed
PubMed Central
Google Scholar
Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R, Patanjali SR, Weissman SM, Anyane-Yeboa K, Warburton D, Scambler P, Shprintzen R, Kucherlapati R, Morrow BE: Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet. 1997, 61: 620-629. 10.1086/515508.
Article
CAS
PubMed
PubMed Central
Google Scholar
Thomas JA, Graham JM: Chromosome 22q11 deletion syndrome: an update and review for the primary pediatrician. Clin Pediatr. 1997, 36: 253-266. 10.1177/000992289703600502.
Article
CAS
Google Scholar
Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, Roe BA, Driscoll DA, McDonald-McGinn DM, Zackai EH, Budarf ML, Emanuel BS: Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet. 2000, 9: 489-501. 10.1093/hmg/9.4.489.
Article
CAS
PubMed
Google Scholar
Saitta SC, Harris SE, Gaeth AP, Driscoll DA, McDonald-McGinn DM, Maisenbacher MK, Yersak JM, Chakraborty PK, Hacker AM, Zackai EH, Ashley T, Emanuel BS: Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet. 2004, 13: 417-428. 10.1093/hmg/ddh041.
Article
CAS
PubMed
Google Scholar
Baumer A, Riegel M, Schinzel A: Non-random asynchronous replication in 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion. J Med Genet. 2004, 41: 413-420. 10.1136/jmg.2003.016352.
Article
CAS
PubMed
PubMed Central
Google Scholar
Shaikh TH, O'Connor RJ, Pierpont ME, McGrath J, Hacker AM, Nimmakayalu M, Geiger E, Emanuel BS, Saitta SC: Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms. Genome Res. 2007, 17: 482-491. 10.1101/gr.5986507.
Article
CAS
PubMed
PubMed Central
Google Scholar
Kurahashi H, Tsuda E, Kohama R, Nakayama T, Masuno M, Imaizumi K, Kamiya T, Sano T, Okada S, Nishisho I: Another critical region for deletion of 22q11: a study of 100 patients. Am J Med Genet. 1997, 72: 180-185. 10.1002/(SICI)1096-8628(19971017)72:2<180::AID-AJMG10>3.0.CO;2-J.
Article
CAS
PubMed
Google Scholar
O'Donnell H, McKeown C, Gould C, Morrow B, Scambler P: Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region. Am J Hum Genet. 1997, 60: 1544-1548. 10.1086/523992.
Article
PubMed
PubMed Central
Google Scholar
Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D: A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science. 1999, 283: 1158-1161. 10.1126/science.283.5405.1158.
Article
CAS
PubMed
Google Scholar
McQuade L, Christodoulou J, Budarf M, Sachdev R, Wilson M, Emanuel B, Colley A: Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). Am J Med Genet. 1999, 86: 27-33. 10.1002/(SICI)1096-8628(19990903)86:1<27::AID-AJMG6>3.0.CO;2-7.
Article
CAS
PubMed
Google Scholar
Amati F, Conti E, Novelli A, Bengala M, Digilio MC, Marino B, Giannotti A, Gabrielli O, Novelli G, Dallapiccola B: Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome. Eur J Hum Genet. 1999, 7: 903-909. 10.1038/sj.ejhg.5200399.
Article
CAS
PubMed
Google Scholar
Lu JH, Chung MY, Betau H, Chien HP, Lu JK: Molecular characterization of tetralogy of fallot within DiGeorge critical region of the chromosome 22. Pediatr Cardiol. 2001, 22: 279-284. 10.1007/s002460010219.
Article
CAS
PubMed
Google Scholar
Saitta SC, McGrath JM, Mensch H, Shaikh H, Zackai EH, Emanuel BS: A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. Am J Hum Genet. 1999, 65: 562-566. 10.1086/302514.
Article
CAS
PubMed
PubMed Central
Google Scholar
Garcia-Miñaur S, Fantes J, Murray RS, Porteous MEM, Strain L, Burns JE, Stephen J, Warner JP: A novel atypical 22q11.2 distal deletion in father and son. J Med Genet. 2002, 39: E62-10.1136/jmg.39.10.e62.
Article
PubMed
PubMed Central
Google Scholar
Rauch A, Zink S, Zweier C, Thiel T, Koch A, Rauch R, Lascorz J, Hüffmeier U, Weyand M, Singer H, Hofbeck M: Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2. J Med Genet. 2005, 42: 871-876. 10.1136/jmg.2004.030619.
Article
CAS
PubMed
PubMed Central
Google Scholar
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. 2007, 120: 837-845. 10.1007/s00439-006-0242-x.
Article
CAS
PubMed
Google Scholar
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, 143A: 1928-1932. 10.1002/ajmg.a.31787.
Article
PubMed
Google Scholar
Nogueira SI, Hacker AM, Bellucco FT, Christofolini DM, Kulikowski LD, Cernach MC, Emanuel BS, Melarango MI: Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum. Eur J Med Genet. 2008, 51: 226-230. 10.1016/j.ejmg.2008.02.001.
Article
PubMed
PubMed Central
Google Scholar
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, 82: 214-221. 10.1016/j.ajhg.2007.09.014.
Article
CAS
PubMed
PubMed Central
Google Scholar
Uddin RK, Zhang Y, Siu VM, Fan YS, O'Reilly RL, Rao J, Singh SM: Breakpoint associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions. BMC Med Genet. 2006, 7: 18-10.1186/1471-2350-7-18.
Article
PubMed
PubMed Central
Google Scholar
Gong W, Gottlieb S, Collins J, Blescia A, Dietz H, Goldmuntz E, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Budarf ML: Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J Med Genet. 2001, 38: E45-10.1136/jmg.38.12.e45.
Article
CAS
PubMed
PubMed Central
Google Scholar
Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R: Role of TBX1 in human del22q11.2 syndrome. Lancet. 2003, 362: 1366-1373. 10.1016/S0140-6736(03)14632-6.
Article
CAS
PubMed
Google Scholar
Augusseau S, Jouk S, Jalbert P, Prieur M: DiGeorge syndrome and 22q11 rearrangements. Hum Genet. 1986, 74: 206-10.1007/BF00282098.
Article
CAS
PubMed
Google Scholar
Lindsay EA, Halford S, Wadey R, Scambler PJ, Baldini A: Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. Genomics. 1993, 17: 403-407. 10.1006/geno.1993.1339.
Article
CAS
PubMed
Google Scholar
Holmes SE, Riazi MA, Gong W, McDermid HE, Sellinger BT, Hua A, Chen F, Wang Z, Zhang G, Roe B, Gonzalez I, McDonald-McGinn DM, Zackai E, Emanuel BS, Budarf ML: Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation. Hum Mol Genet. 1997, 6: 357-367. 10.1093/hmg/6.3.357.
Article
CAS
PubMed
Google Scholar
Halford S, Wadey R, Roberts C, Daw SC, Whiting JA, O'Donnell H, Dunham I, Bentley D, Lindsay E, Baldini A, Francis F, Lehrach H, Williamson R, Wilson DI, Goodship J, Cross I, Burn J, Scambler PJ: Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heard disease. Hum Mol Genet. 1993, 2: 2099-2107. 10.1093/hmg/2.12.2099.
Article
CAS
PubMed
Google Scholar
Novelli G, Amati F, Dallapiccola B: UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes?. Trends Genet. 1999, 15: 251-254. 10.1016/S0168-9525(99)01772-2.
Article
CAS
PubMed
Google Scholar
Lindsay EA, Goldberg R, Jurecic V, Morrow B, Carlson C, Kucherlapati RS, Shprintzen RJ, Baldini A: Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions. Am J Med Genet. 1995, 57: 514-522. 10.1002/ajmg.1320570339.
Article
CAS
PubMed
Google Scholar
Yamagishi H, Ishii C, Maeda J, Kojima Y, Matsuoka R, Kimura M, Takao A, Momma K, Matsuo N: Phenotypic discordance in monozygotic twins with 22q11.2 deletion. Am J Med Genet. 1998, 78: 319-321. 10.1002/(SICI)1096-8628(19980724)78:4<319::AID-AJMG3>3.0.CO;2-G.
Article
CAS
PubMed
Google Scholar
McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, Zackai EH: Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!. Genet Med. 2001, 3: 23-29.
Article
CAS
PubMed
Google Scholar
Fernández L, Lapunzina P, Pajares IL, Criado GR, García-Guereta L, Pérez J, Quero J, Delicado A: Higher frequency of uncommon 1.5–2 Mb deletions found in familial cases of 22q11.2 deletion syndrome. Am J Med Genet. 2005, 136: 71-75. 10.1002/ajmg.a.30756.
Article
PubMed
Google Scholar
Mikhail FM, Descartes M, Piotrowski A, Andersson R, de Ståhl TD, 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, 143A: 2178-2184. 10.1002/ajmg.a.31882.
Article
CAS
PubMed
Google Scholar
Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, Thorland EC, Lorentz CP, Goldstein JL, McDonald MT, Smith WE, Simon-Fayard E, Alexander AA, Kulharya AS, Ketterling RP, Clark RD, Jalal SM: Microduplication 22q11.2, an emerging síndrome: clinical, cytogenetic and molecular analysis of thirteen patients. Am J Hum Genet. 2003, 73: 1027-1040. 10.1086/378818.
Article
CAS
PubMed
PubMed Central
Google Scholar
Portnoï MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S: 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. Am J Med Genet A. 2005, 137: 47-51.
Article
PubMed
Google Scholar
Brunet A, Gabau E, Perich RM, Valdesoiro L, Brun C, Caballín 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, 140A: 2426-2432. 10.1002/ajmg.a.31499.
Article
Google Scholar
Sivertsen Ǻ, Lie RT, Wilcox AJ, Ǻbyholm 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. 2007, 143A: 129-134. 10.1002/ajmg.a.31445.
Article
PubMed
Google Scholar
Courtens W, Schramme I, Laridon A: Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance? – Report of two families. Am J Med Genet A. 2008, 146: 758-763.
Article
Google Scholar
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, 143A: 1082-1086. 10.1002/ajmg.a.31697.
Article
CAS
PubMed
Google Scholar
Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A: Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008, 10: 267-277.
Article
PubMed
Google Scholar
Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RS, Magenis E, Shprintzen RJ, Morrow BE: A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet. 1999, 8: 1157-1167. 10.1093/hmg/8.7.1157.
Article
CAS
PubMed
Google Scholar
Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, McDermid HE: Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet. 2005, 76: 865-876. 10.1086/429841.
Article
CAS
PubMed
PubMed Central
Google Scholar
Yu S, Cox K, Friend K, Smith S, Buchheim R, Bain S, Liebelt J, Thompson E, Bratkovic D: Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication. Clin Genet. 2008, 73: 160-164. 10.1111/j.1399-0004.2007.00938.x.
Article
CAS
PubMed
Google Scholar
De la Rochebrochard C, Joly-Hélas G, Goldenberg A, Durand I, Laquerrière A, Ickowicz V, Saugier-Veber P, Eurin D, Moirot H, Diguet A, de Kergal F, Tiercin C, Mace B, Marpeau L, Frebourg T: The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. Am J Med Genet A. 2006, 140A: 1608-1613. 10.1002/ajmg.a.31227.
Article
CAS
Google Scholar
Wentzel C, Fernström M, Öhrner Y, Annerén G, Thuresson AC: Clinical variability of the 22q11.2 duplication syndrome. Eur J Med Genet. 2008, 51 (6): 501-10. 10.1016/j.ejmg.2008.07.005.
Article
PubMed
Google Scholar
Alberti A, Romano C, Falco M, Calì 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, 71: 177-182. 10.1111/j.1399-0004.2007.00750.x.
Article
CAS
PubMed
Google Scholar
MRC-Holland: Multiplex Ligation-dependent Probe Amplification. [http://www.mlpa.com/WebForms/WebFormMain.aspx?Tag=fNPBLedDVp38p\CxU2h0mQ||]
Torres-Juan L, Rosell J, Sánchez-de-la-Torre M, Fibla J, Heine-Suñer D: Analysis of meiotic recombination of 22q11.2, a region that frequently undergoes deletions and duplications. BMC Med Genet. 2007, 8: 14-10.1186/1471-2350-8-14.
Article
PubMed
PubMed Central
Google Scholar
Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, Gibbs JR, Britton A, de Vrieze FW, Peckham E, Gwinn-Hardy K, Crawley A, Keen JC, Nash J, Borgaonkar D, Hardy J, Singleton A: Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet. 2007, 16: 1-14. 10.1093/hmg/ddl436.
Article
CAS
PubMed
Google Scholar
Pinto D, Marshall C, Feuk L, Scherer SW: Copy-number variation in control population cohorts. Hum Mol Genet. 2008, 17: 166-167. 10.1093/hmg/ddn250.
Article
Google Scholar
Perry GH, Ben-Dor A, Tsalenko A, Sampas N, Rodriguez-Revenga L, Tran CW, Scheffer A, Steinfeld I, Tsang P, Yamada NA, Park HS, Kim JI, Seo JS, Yakhini Z, Laderman S, Bruhn L, Lee C: The fine-scale and complex architecture of human copy-number variation. Am J Hum Genet. 2008, 82: 685-695. 10.1016/j.ajhg.2007.12.010.
Article
CAS
PubMed
PubMed Central
Google Scholar
Database of Genomic Variants. A curated catalogue of structural variation in the human genome. [http://projects.tcag.ca/variation/?source=hg18]
Guris DL, Fantes J, Tara D, Druker BJ, Imamoto A: Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. Nat Genet. 2001, 27: 293-298. 10.1038/85855.
Article
CAS
PubMed
Google Scholar
Sutherland HF, Wadey R, McKie JM, Taylor C, Atif U, Johnstone KA, Halford S, Kim UJ, Goodship J, Baldini A, Scambler PJ: Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome. Am J Hum Genet. 1996, 59: 23-31.
CAS
PubMed
PubMed Central
Google Scholar
Rauch A, Pfeiffer RA, Leipold G, Singer H, Tigges M, Hofbeck M: A novel 22q11.2 microdeletion in DiGeorge syndrome. Am J Hum Genet. 1999, 64: 659-666. 10.1086/302235.
Article
CAS
PubMed
PubMed Central
Google Scholar
Dallapiccola B, Pizzuti A, Novelli G: How many breaks do we need to CATCH on 22q11?. Am J Hum Genet. 1996, 59: 7-11.
CAS
PubMed
PubMed Central
Google Scholar
Hall GJ: CATCH 22. J Med Genet. 1993, 30: 801-802. 10.1136/jmg.30.10.801.
Article
CAS
PubMed
PubMed Central
Google Scholar
Kurnit DM, Layton WM, Matthysse S: Genetics, chance, and morphogenesis. Am J Hum Genet. 1987, 41: 979-995.
CAS
PubMed
PubMed Central
Google Scholar
Digilio MC, Marino B, Capolino R, Angioni A, Sarkozy A, Roberti MC, Conti E, de Zorzi A, Dallapiccola B: Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2. Am J Med Genet. 2005, 134A: 158-164. 10.1002/ajmg.a.30587.
Article
PubMed
Google Scholar
Heine-Suñer D, Armengol L, Torres-Juan L, de la Fuente M, García-Algas F, Fernández L, Reyero M, Juan M, Tubau A, Pérez-Granero A, Bernués M, Govea N, Lapunzina P, Estivill X, Rosell J: Clinical and molecular characterization of deletions, duplications and mutations in the 22q11.2 region [abstract]. Eur J Hum Genet. 2008, 16 (Suppl 2):
Goodship J, Cross I, Scambler P, Burn J: Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J Med Genet. 1995, 32: 746-748. 10.1136/jmg.32.9.746.
Article
CAS
PubMed
PubMed Central
Google Scholar
Guris DL, Fantes J, Tara D, Druker BJ, Imamoto A: Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. Nat Genet. 2001, 27: 293-298. 10.1038/85855.
Article
CAS
PubMed
Google Scholar
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. 2008, 13: 1060-1068. 10.1038/sj.mp.4002080.
Article
CAS
PubMed
Google Scholar
Vorstman JAS, 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. 2009, 150B: 430-433. 10.1002/ajmg.b.30827.
Article
CAS
PubMed
PubMed Central
Google Scholar
Saito T, Guan F, Papolos DF, Rajouria N, Fann CS, Lachman HM: Polymorphism in SNAP29 gene promoter region associated with schizophrenia. Mol Psychiatry. 2001, 6: 605-10.1038/sj.mp.4000932.
Article
CAS
Google Scholar
Wonodi I, Hong LE, Avila MT, Buchanan RW, Carpenter WT, Stine OC, Mitchell BD, Thaker GK: Association between polymorphism of the SNAP29 gene promoter region and schizophrenia. Schizophr Res. 2005, 78: 339-341. 10.1016/j.schres.2005.03.023.
Article
PubMed
Google Scholar
Kurahashi H, Nakayama T, Osugi Y, Tsuda E, Masuno M, Imaizumi K, Kamiya T, Sano T, Okada S, Nishisho I: Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region. Am J Hum Genet. 1996, 58: 1377-1381.
CAS
PubMed
PubMed Central
Google Scholar
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, 29: 433-440. 10.1002/humu.20640.
Article
CAS
PubMed
PubMed Central
Google Scholar
Urban AE, Korbel JO, Selzer R, Richmond T, Hacker A, Popescu GV, Cubells JF, Green R, Emanuel BS, Gernstein MB, Weissman SM, Snyder M: High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays. Proc Natl Acad Sci USA. 2006, 103: 4534-4539. 10.1073/pnas.0511340103.
Article
CAS
PubMed
PubMed Central
Google Scholar
Blennow E, Lagerstedt K, Malmgren H, Sahlén S, Schoumans J, Anderlid B: Concurrent microdeletion and duplication of 22q11.2. Clin Genet. 2008, 74: 61-67. 10.1111/j.1399-0004.2008.01008.x.
Article
CAS
PubMed
Google Scholar
Zweier C, Sticht H, Aydin-Yaylagül I, Campbell CE, Rauch A: Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet. 2007, 80: 510-517. 10.1086/511993.
Article
CAS
PubMed
PubMed Central
Google Scholar
Torres-Juan L, Rosell J, Morla M, Vidal-Pou C, García-Algas F, de la Fuente MA, Juan M, Tubau A, Bachiller D, Bernues M, Perez-Granero A, Govea N, Busquets X, Heine-Suñer D: Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. Eur J Hum Genet. 2007, 15: 658-663. 10.1038/sj.ejhg.5201819.
Article
CAS
PubMed
Google Scholar
Fan YS, Jayakar P, Zhu H, Barbouth D, Sacharow S, Morales A, Carver V, Benke P, Mundy P, Elsas LJ: Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. Hum Mutat. 2007, 28: 1124-1132. 10.1002/humu.20581.
Article
CAS
PubMed
Google Scholar
De Luca A, Conti E, Grifone N, Amati F, Spalletta G, Caltagirone C, Bonaviri G, Pasini A, Gennarelli M, Stefano B, Berti L, Mittler G: Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2003, 116B: 32-35. 10.1002/ajmg.b.10008.
Article
PubMed
Google Scholar
Sandhu HK, Hollenbeck N, Wassink TH, Philibert RA: An association study of PCQAP polymorphisms and schizophrenia. Psychiatr Genet. 2004, 14: 169-172. 10.1097/00041444-200409000-00010.
Article
PubMed
Google Scholar
Mefford H, Sharp A, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney V, Crolla J, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers E, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam R, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park S, Mehta S, Nik-Zainal S, Woods C, Firth H, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li K, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie J, Tobias E, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goosens L, Mortier G, Speleman F, van Binsbergen E, Nelen M, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson R, Antonarakis S, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe J, Walsh T, Knight S, Sebat J, Romano C, Schwartz C, Veltman J, de Vries B, Vermeesch J, Barber J, Willatt L, Tassabehji M, Eichler E: Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med. 2008, 359: 1685-1699. 10.1056/NEJMoa0805384.
Article
CAS
PubMed
PubMed Central
Google Scholar
Wieser R, Fritz B, Ullmann R, Müller I, Galhuber M, Storlazzi CT, Ramaswamy A, Christiansen H, Shimizu N, Rehder H: Novel rearrangement of chromosome band 22q11.2 causing 22q11.2 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney. Hum Mutat. 2005, 26: 78-83. 10.1002/humu.20195.
Article
CAS
PubMed
Google Scholar
Fernández L, Lapunzina P, Arjona D, López Pajares I, García-Guereta L, Elorza D, Burgueros M, De Torres ML, Mori MA, Palomares M, García-Alix A, Delicado A: Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome. Clin Genet. 2005, 68: 373-378. 10.1111/j.1399-0004.2005.00493.x.
Article
PubMed
Google Scholar
Vorstman JA, Jalali GR, Rappaport EF, Hacker AM, Scott C, Emanuel BS: MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q. Hum Mutat. 2006, 27: 814-821. 10.1002/humu.20330.
Article
CAS
PubMed
PubMed Central
Google Scholar