| 1 | DEL22q11, TBX1, VCF
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| A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens.
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| Funato N, Heliövaara A, Boeckx C.
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| Am J Hum Genet. May 2;111(5):939-953. doi: 10.1016/j.ajhg.2024.03.012. Epub 2024 Apr 11. 2024
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| 2 | CRKL, DEL22Q11, LCR22
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| Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
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| Zhao Y, Diacou A, Johnston HR, Musfee FI, McDonald-McGinn DM, McGinn D, Crowley TB, Repetto GM, Swillen A, Breckpot J, Vermeesch JR, Kates WR, Digilio MC, Unolt M, Marino B, Pontillo M, Armando M, Di Fabio F, Vicari S, van den Bree M, Moss H, Owen MJ, Murphy KC, Murphy CM, Murphy D, Schoch K, Shashi V, Tassone F, Simon TJ, Shprintzen RJ, Campbell L, Philip N, Heine-Suñer D, García-Miñaúr S, Fernández L; International 22q11.
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| Am J Hum Genet 106(1):26-40. doi: 10.1016/j.ajhg.2019.11.010. Epub 2019 Dec 20. 2020
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| 3 | DEL22q11, TBX1, VCF
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| TBX1 Regulates Chondrocyte Maturation in the Spheno-occipital Synchondrosis
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| Funato N, Srivastava D, Shibata S, Yanagisawa H.
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| J Dent Res. Sep;99(10):1182-1191. doi: 10.1177/0022034520925080. Epub 2020 May 22. 2020
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| 4 | DEL22Q11, TBX1
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| A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity.
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| Xu Y, Fang S, Zhang E, Pu T, Cao R, Fu Q, Li F, Chen S, Sun K, Xu R.
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| Sci Rep 7:44165. doi: 10.1038/srep44165.
2017
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| 5 | DEL22Q11, TBX1
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| Mapping cellular processes in the mesenchyme during palatal development in the absence of Tbx1 reveals complex proliferation changes and perturbed cell packing and polarity.
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| Brock LJ, Economou AD, Cobourne MT, Green JB.
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| J Anat 228(3):464-73. doi: 10.1111/joa.12425. Epub 2015 Dec 22.
2016
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| 6 | DEL22Q11, SLC2A14, SLC2A3
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| Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
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| Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Shaikh TH, Bassett AS, Goldmuntz E, Morrow BE, Emanuel BS; International Chromosome 22q11.
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| Am J Hum Genet 96(5):753-64. doi: 10.1016/j.ajhg.2015.03.007. Epub 2015 Apr 16.
2015
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| 7 | DEL22Q11
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| Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes.
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| Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jarlbrzkowski M, Bearden CE, Bailey A, Vangkilde A, Olsen L, Olesen C, Skovby F, Werge TM, Templin L, Busa T, Philip N, Swillen A, Vermeesch JR, Devriendt K, Schneider M, Dahoun S, Eliez S, Schoch K, Hooper SR, Shashi V, Samanich J, Marion R, van Amelsvoort T, Boot E, Klaassen P, Duijff SN, Vorstman J, Yuen T, Silversides C, Chow E, Bassett A, Frisch A, Weizman A, Gothelf D, Niarchou M, van den Bree M, Owen MJ, Suñer DH, Andreo JR, Armando M, Vicari S, Digilio MC, Auton A, Kates WR, Wang T, Shprintzen RJ, Emanuel BS, Morrow BE.
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| Am J Hum Genet 92(3):439-47. doi: 10.1016/j.ajhg.2013.01.018. Epub 2013 Feb 28.
2013
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| 8 | DEL22Q11, SNAP29
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| Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
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| McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, Mlynarski E, Lynch DR, Yan AC, Bilaniuk LT, Sullivan KE, Warren ST, Emanuel BS, Vermeesch JR, Zackai EH, Jerome-Majewska LA.
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| J Med Genet 50(2):80-90. doi: 10.1136/jmedgenet-2012-101320. Epub 2012 Dec 11.
2013
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| 9 | DEL22Q11, DEL22Q11D, TBX1
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| Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
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| Verhagen JM, Diderich KE, Oudesluijs G, Mancini GM, Eggink AJ, Verkleij-Hagoort AC, Groenenberg IA, Willems PJ, du Plessis FA, de Man SA, Srebniak MI, van Opstal D, Hulsman LO, van Zutven LJ, Wessels MW.
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| Am J Med Genet A 158A(10):2412-20. doi: 10.1002/ajmg.a.35517. Epub 2012 Aug 14.
2012
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| 10 | DEL22Q11, KAT6A, TBX1
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| MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome.
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| Voss AK, Vanyai HK, Collin C, Dixon MP, McLennan TJ, Sheikh BN, Scambler P, Thomas T.
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| Dev Cell 23(3):652-63. doi: 10.1016/j.devcel.2012.07.010. Epub 2012 Aug 23. 2012
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| 11 | DEL22Q11, TBX1
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| Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
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| Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE; and the International Chromosome 22q11.
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| Am J Med Genet A 158A(11):2781-7. doi: 10.1002/ajmg.a.35512. Epub 2012 Oct 3.
2012
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| 12 | DEL22Q11, SNAP29
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| Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
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| McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, Mlynarski E, Lynch DR, Yan AC, Bilaniuk LT, Sullivan KE, Warren ST, Emanuel BS, Vermeesch JR, Zackai EH, Jerome-Majewska LA.
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| J Med Genet Med Genet. 2012 Dec 11. [Epub ahead of print]
2012
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| 13 | DEL22Q11
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| Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms.
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| Shashi V, Francis A, Hooper SR, Kranz PG, Zapadka M, Schoch K, Ip E, Tandon N, Howard TD, Keshavan MS.
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| Eur J Hum Genet 20(10):1051-7. doi: 10.1038/ejhg.2012.138. Epub 2012 Jun 27.
2012
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| 14 | DEL22q11
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| High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome.
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| Busse T, Graham JM Jr, Feldman G, Perin J, Catherwood A, Knowlton R, Rappaport EF, Emanuel B, Driscoll DA, Saitta SC.
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| Hum Mutat 32(1):91-7.PMID: 21120947 2011
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| 15 | DEL22Q11, DGCR8
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| Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex.
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| Fénelon K, Mukai J, Xu B, Hsu PK, Drew LJ, Karayiorgou M, Fischbach GD, Macdermott AB, Gogos JA.
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| Proc Natl Acad Sci U S A 108(11):4447-52. Epub 2011 Feb 28.
2011
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| 16 | DEL22Q11
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| Practical guidelines for managing patients with 22q11.2 deletion syndrome.
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| Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J; International 22q11.
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| J Pediatr 159(2):332-9.e1. Epub 2011 May 12. No abstract available.
2011
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| 17 | DEL22Q11, DEL22Q11.2
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| 22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review.
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| Garavelli L, Rosato S, Wischmeijer A, Gelmini C, Esposito A, Mazzanti L, Franchi F, De Crescenzo A, Palumbo O, Carella M, Riccio A.
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| Mol Syndromol 2(1):35-44. Epub 2011 Dec 5.
2011
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| 18 | DEL22Q11, TBX1
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| Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
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| Guo T, McDonald-McGinn D, Blonska A, Shanske A, Bassett AS, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon TJ, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Goldmuntz E, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B; International Chromosome 22q11.
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| Hum Mutat 32(11):1278-89. doi: 10.1002/humu.21568. Epub 2011 Sep 16.
2011
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| 19 | CSX, CTHM1, DEL22Q11, ICHD, JAG1, NKX2-5, TBX1, TRI21
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| Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
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| Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, Hoyer J, Kaulitz R, Singer H, Rauch A.
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| J Med Genet 47(5):321-31. Epub 2009 Nov 30.PMID: 19948535 2010
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| 20 | DEL22Q11
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| Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome.
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| Momma K.
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| Am J Cardiol 105(11):1617-24.PMID: 20494672 2010
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| 21 | DEL22Q11
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| Developmental perspectives on copy number abnormalities of the 22q11.2 region.
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| Tan TY, Gordon CT, Amor DJ, Farlie PG.
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| Clin Genet lin Genet. 2010 Apr 23. [Epub ahead of print]PMID: 20497193 2010
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| 22 | DEL22Q11, VCF
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| 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia.
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| Karayiorgou M, Simon TJ, Gogos JA.
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| Nat Rev Neurosci 11(6):402-16. Review.PMID: 20485365 2010
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| 23 | DEL22Q11, DEL3PD
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| Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome.
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| Dundar M, Kiraz A, Tasdemir S, Akalin H, Kurtoglu S, Hafo F, Cine N, Savli H.
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| Am J Med Genet A 152A(11):2791-5.PMID: 20949503 2010
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| 24 | DEL22Q11, HIRA
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| Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.
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| Wozniak A, Wolnik-Brzozowska D, Wisniewska M, Glazar R, Materna-Kiryluk A, Moszura T, Badura-Stronka M, Skolozdrzy J, Krawczynski MR, Zeyland J, Bobkowski W, Slomski R, Latos-Bielenska A, Siwinska A.
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| BMC Pediatr 10:88.
2010
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| 25 | AS, DEL22Q11
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| Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family.
|
| Kosaki R, Migita O, Takahashi T, Kosaki K.
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| Am J Med Genet A 149A(4):702-5.
2009
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| 26 | DEL22Q11, TBX1
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| Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
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| Beaujard MP, Chantot S, Dubois M, Keren B, Carpentier W, Mabboux P, Whalen S, Vodovar M, Siffroi JP, Portnoï MF.
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| Eur J Med Genet 52(5):321-7. Epub 2009 May 23.
2009
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| 27 | DEL22Q11, HFM
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| Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2.
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| Digilio MC, McDonald-McGinn DM, Heike C, Catania C, Dallapiccola B, Marino B, Zackai EH.
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| Am J Med Genet A m J Med Genet A. 2009 Nov 3. [Epub ahead of print] 2009
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| 28 | DEL22q11
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| Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
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| 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.
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| Am J Med Genet A [Epub ahead of print] 2008
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| 29 | DEL22Q11
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| Parathyroid hormone reserve in 22q11.2 deletion syndrome.
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| Kapadia CR, Kim YE, McDonald-McGinn DM, Zackai EH, Katz LE.
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| Genet Med 10(3):224-8. 2008
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| 30 | DEL22q11, COMT, SCZD4
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| Schizophrenia and 22q11.2 deletion syndrome.
|
| Bassett AS, Chow EW.
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| Curr Psychiatry Rep 10(2):148-57. 2008
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| 31 | DEL15Q13, DEL1Q21D, DEL22Q11, DUP15Q13, SCZD10
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| Rare chromosomal deletions and duplications increase risk of schizophrenia.
|
| International Schizophrenia Consortium.
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| Nature 455(7210):237-41. Epub 2008 Jul 30. 2008
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| 32 | DEL22Q11, PI4KA, SCZD4
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| Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome.
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| Vorstman JA, Chow EW, Ophoff RA, van Engeland H, Beemer FA, Kahn RS, Sinke RJ, Bassett AS.
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| Am J Med Genet B Neuropsychiatr Genet m J Med Genet B Neuropsychiatr Genet. 2008 Jul 21. [Epub ahead of print] 2008
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| 33 | DEL22Q11, PI4KA, SCZD4
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| An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia.
|
| Jungerius BJ, Hoogendoorn ML, Bakker SC, Van't Slot R, Bardoel AF, Ophoff RA, Wijmenga C, Kahn RS, Sinke RJ.
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| Mol Psychiatry 13(11):1060-8. Epub 2007 Sep 25. 2008
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| 34 | DEL22Q11, DGCR8, DUP22Q11
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| Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model.
|
| Stark KL, Xu B, Bagchi A, Lai WS, Liu H, Hsu R, Wan X, Pavlidis P, Mills AA, Karayiorgou M, Gogos JA.
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| Nat Genet 40(6):751-60. Epub 2008 May 11. 2008
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| 35 | AS, DEL22Q11, DUP15Q12, DUP17P12, DUP22Q11, DUP7Q11, FRAXA, PWS, RTT, SMS, WBS
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| Failure of neuronal homeostasis results in common neuropsychiatric phenotypes.
|
| Ramocki MB, Zoghbi HY.
|
| Nature 455(7215):912-8.
2008
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| 36 | DEL22Q11, SCZD4
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| Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.
|
| Bassett AS, Marshall CR, Lionel AC, Chow EW, Scherer SW.
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| Hum Mol Genet um Mol Genet. 2008 Sep 20. [Epub ahead of print]
2008
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| 37 | DEL22Q11, DEL22Q11D, MAPK1
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| Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development.
|
| Newbern J, Zhong J, Wickramasinghe RS, Li X, Wu Y, Samuels I, Cherosky N, Karlo JC, O'Loughlin B, Wikenheiser J, Gargesha M, Doughman YQ, Charron J, Ginty DD, Watanabe M, Saitta SC, Snider WD, Landreth GE.
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| Proc Natl Acad Sci U S A 105(44):17115-20. Epub 2008 Oct 24.
2008
|
| 38 | DEL22Q11
|
| Frequency of 22q11.2 microdeletion in sporadic non-syndromic tetralogy of Fallot cases.
|
| Gioli-Pereira L, Pereira AC, Bergara D, Mesquita S, Lopes AA, Krieger JE.
|
| Int J Cardiol 126(3):374-8. Epub 2007 Jun 29.PMID: 17604138 2008
|
| 39 | DEL22Q11, PRODH, HPI, VCF, COMT
|
| Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
|
| 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.
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| Hum Mol Genet 16(1):83-91. Epub 2006 Nov 29. 2007
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| 40 | TBX1, VCF, DEL22Q11
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| Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions.
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| Zweier C, Sticht H, Aydin-Yaylagul I, Campbell CE, Rauch A.
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| Am J Hum Genet 80(3):510-7. Epub 2007 Jan 18. 2007
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| 41 | TBX1, DEL22Q11
|
| The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning.
|
| Fagman H, Liao J, Westerlund J, Andersson L, Morrow BE, Nilsson M.
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| Hum Mol Genet 16(3):276-85. Epub 2006 Dec 12. 2007
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| 42 | DEL22Q11
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| Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome.
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| Weksberg R, Stachon AC, Squire JA, Moldovan L, Bayani J, Meyn S, Chow E, Bassett AS.
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| Hum Genet 120(6):837-45. Epub 2006 Oct 7. 2007
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| 43 | DEL22Q11, DEL22BCR, DEL22Q11D
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| Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.
|
| Shaikh TH, O'Connor RJ, Pierpont ME, McGrath J, Hacker AM, Nimmakayalu M, Geiger E, Emanuel BS, Saitta SC.
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| Genome Res 17(4):482-91. Epub 2007 Mar 9. 2007
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| 44 | DEL22Q11, DUP22Q11
|
| Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome.
|
| Dempsey MA, Schwartz S, Waggoner DJ.
|
| Am J Med Genet A 143(10):1082-6. 2007
|
| 45 | DEL22Q11
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| Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants.
|
| 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.
|
| Blood 109(10):4539-47. Epub 2007 Feb 6. 2007
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| 46 | DEL22Q11,DUP22Q11,TBX1
|
| Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.
|
| 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.
|
| Eur J Hum Genet 15(6):658-63. Epub 2007 Mar 21. 2007
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| 47 | DEL22Q11
|
| Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome.
|
| Sundaram UT, McDonald-McGinn DM, Huff D, Emanuel BS, Zackai EH, Driscoll DA, Bodurtha J.
|
| Am J Med Genet A 143(17):2016-8. 2007
|
| 48 | DEL22Q11
|
| Comparing phenotypes in patients with idiopathic autism to patients with velocardiofacial syndrome (22q11 DS) with and without autism.
|
| Kates WR, Antshel KM, Fremont WP, Shprintzen RJ, Strunge LA, Burnette CP, Higgins AM.
|
| Am J Med Genet A 143(22):2642-50. 2007
|
| 49 | DEL22Q11, DEL22Q11D, DUP22Q11
|
| Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.
|
| Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN, Weksberg R.
|
| Am J Med Genet A 143(24):2924-30. 2007
|
| 50 | COMT, DEL22Q11, SCZD4
|
| Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome.
|
| Gothelf D, Feinstein C, Thompson T, Gu E, Penniman L, Van Stone E, Kwon H, Eliez S, Reiss AL.
|
| Am J Psychiatry 164(4):663-9. 2007
|
| 51 | DEL22Q11
|
| Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome.
|
| Gothelf D, Hoeft F, Hinard C, Hallmayer JF, Stoecker JV, Antonarakis SE, Morris MA, Reiss AL.
|
| Hum Brain Mapp 28(6):533-42.
2007
|
| 52 | TBX1, DEL22Q11
|
| Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome.
|
| Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, Sobotka A, Sparks C, Choi CH, Oghalai J, Curran S, Murphy KC, Monks S, Williams N, O'donovan MC, Owen MJ, Scambler PJ, Lindsay E.
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| Proc Natl Acad Sci U S A 103(20):7729-34. Epub 2006 May 9. 2006
|
| 53 | DEL22Q11
|
| The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies.
|
| de La Rochebrochard C, Joly-Helas G, Goldenberg A, Durand I, Laquerriere A, Ickowicz V, Saugier-Veber P, Eurin D, Moirot H, Diguet A, de Kergal F, Tiercin C, Mace B, Marpeau L, Frebourg T.
|
| Am J Med Genet A 140(14):1608-13. No abstract available. 2006
|
| 54 | WBS, AS, PWS, DEL22Q11, DUP15Q12, DUP7Q11,DUP22Q11
|
| Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.
|
| Thomas NS, Durkie M, Potts G, Sandford R, Van Zyl B, Youings S, Dennis NR, Jacobs PA.
|
| Eur J Hum Genet 14(7):831-7. Epub 2006 Apr 12. 2006
|
| 55 | CHARGE, CHD7, DEL22Q11, FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCJ, MYCN, ODED1, SALL1, TBS, TBX1, VACTERLH
|
| Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.
|
| Shaw-Smith C.
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| J Med Genet 43(7):545-54. Epub 2005 Nov 18. Review. 2006
|
| 56 | DEL22Q11
|
| Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation.
|
| 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.
|
| Am J Med Genet A 140(22):2416-25. 2006
|
| 57 | DEL22Q11, DUP22Q11
|
| Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.
|
| Brunet A, Gabau E, Perich RM, Valdesoiro L, Brun C, Caballin MR, Guitart M.
|
| Am J Med Genet A 140(22):2426-32. 2006
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| 58 | DEL22Q11, DGCR8
|
| Characterization of DGCR8/Pasha, the essential cofactor for Drosha in primary miRNA processing.
|
| Yeom KH, Lee Y, Han J, Suh MR, Kim VN.
|
| Nucleic Acids Res 34(16):4622-9. Epub 2006 Sep 8.
2006
|
| 59 | DEL22Q11
|
| Visuospatial and numerical cognitive deficits in children with chromosome 22q11.2 deletion syndrome.
|
| Simon TJ, Bearden CE, Mc-Ginn DM, Zackai E.
|
| Cortex 41(2):145-55. 2005
|
| 60 | DEL22Q11, TBX1
|
| Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.
|
| Stoller JZ, Epstein JA.
|
| Hum Mol Genet 14(7):885-92. Epub 2005 Feb 9. 2005
|
| 61 | DEL22Q11
|
| 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 136(1):71-5. 2005
|
| 62 | TBX1, DEL22Q11
|
| Dissecting contiguous gene defects: TBX1.
|
| Baldini A.
|
| Curr Opin Genet Dev 15(3):279-84. 2005
|
| 63 | DEL22Q11
|
| Craniosynostosis: another feature of the 22q11.2 deletion syndrome.
|
| McDonald-McGinn DM, Gripp KW, Kirschner RE, Maisenbacher MK, Hustead V, Schauer GM, Keppler-Noreuil KM, Ciprero KL, Pasquariello P Jr, LaRossa D, Bartlett SP, Whitaker LA, Zackai EH.
|
| Am J Med Genet A 136(4):358-62. 2005
|
| 64 | DEL22Q11
|
| Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.
|
| Fernandez L, Lapunzina P, Arjona D, Lopez Pajares I, Garcia-Guereta L, Elorza D, Burgueros M, De Torres ML, Mori MA, Palomares M, Garcia-Alix A, Delicado A.
|
| Clin Genet 68(4):373-8. 2005
|
| 65 | DEL22Q11
|
| 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 42(11):871-6. Epub 2005 Apr 14. 2005
|
| 66 | DEL22Q11
|
| Clinical features of 78 adults with 22q11 Deletion Syndrome.
|
| Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA.
|
| Am J Med Genet A 138(4):307-13. 2005
|
| 67 | DEL22Q11
|
| Neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence associated with chromosome 22q11.2 deletion.
|
| Castro-Gago M, Iglesias-Meleiro JM, Blanco-Barca MO, Grande-Seijo M, Barros-Angueira F, Eiris-Punal J.
|
| J Child Neurol 20(1):76-8. 2005
|
| 68 | JPS, JPS2, JPS3, JPS4, ENG, DEL22Q11, DUP22Q11
|
| Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.
|
| Sweet K, Willis J, Zhou XP, Gallione C, Sawada T, Alhopuro P, Khoo SK, Patocs A, Martin C, Bridgeman S, Heinz J, Pilarski R, Lehtonen R, Prior TW, Frebourg T, Teh BT, Marchuk DA, Aaltonen LA, Eng C.
|
| JAMA 294(19):2465-73. 2005
|
| 69 | ADGRG1, BFPP, BPP, COFS1, COFS2, DEL22Q11, DEL4Q, EMX2, KMS, MELAS, RTT
|
| Genetics of the polymicrogyria syndromes.
|
| Jansen A, Andermann E.
|
| J Med Genet 42(5):369-78. Review. 2005
|
| 70 | DEL22Q11
|
| Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.
|
| 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.
|
| Hum Mol Genet 13(4):417-28. Epub 2003 Dec 17. 2004
|
| 71 | VCF, DEL22Q11
|
| Genetic, developmental, and physical factors associated with attention deficit hyperactivity disorder in patients with velocardiofacial syndrome.
|
| Gothelf D, Presburger G, Levy D, Nahmani A, Burg M, Berant M, Blieden LC, Finkelstein Y, Frisch A, Apter A, Weizman A.
|
| Am J Med Genet 126B(1):116-21. 2004
|
| 72 | COMT, DEL22Q11
|
| COMT: a common susceptibility gene in bipolar disorder and schizophrenia.
|
| Shifman S, Bronstein M, Sternfeld M, Pisante A, Weizman A, Reznik I, Spivak B, Grisaru N, Karp L, Schiffer R, Kotler M, Strous RD, Swartz-Vanetik M, Knobler HY, Shinar E, Yakir B, Zak NB, Darvasi A.
|
| Am J Med Genet 128B(1):61-4. 2004
|
| 73 | COMT, DEL22Q11
|
| Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome.
|
| Bearden CE, Jawad AF, Lynch DR, Sokol S, Kanes SJ, McDonald-McGinn DM, Saitta SC, Harris SE, Moss E, Wang PP, Zackai E, Emanuel BS, Simon TJ.
|
| Am J Psychiatry 161(9):1700-2. 2004
|
| 74 | DEL22Q11, TBX1
|
| Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients.
|
| Rauch A, Devriendt K, Koch A, Rauch R, Gewillig M, Kraus C, Weyand M, Singer H, Reis A, Hofbeck M.
|
| J Med Genet 41(4):e40. No abstract available. 2004
|
| 75 | DEL22Q11
|
| Familial 22q11.2 deletions in DiGeorge/velocardiofacial syndrome are predominantly smaller than the commonly observed 3Mb.
|
| Adeyinka A, Stockero KJ, Flynn HC, Lorentz CP, Ketterling RP, Jalal SM.
|
| Genet Med 6(6):517-20. 2004
|
| 76 | DEL22Q11
|
| The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome.
|
| Sullivan KE.
|
| Curr Opin Allergy Clin Immunol 4(6):505-12. 2004
|
| 77 | TBX1, VEGFA, DEL22Q11
|
| VEGF: A modifier of the del22q11 (DiGeorge) syndrome
|
| Stalmans I, Lambrechts D, De Smet F, Jansen S, Wang J, Maity S, Kneer P, Von Der Ohe M, Swillen A, Maes C, Gewillig M, Molin DG, Hellings P, Boetel T, Haardt M, Compernolle V, Dewerchin M, Plaisance S, Vlietinck R, Emanuel B, Gittenberger-De Groot AC, Scambler P, Morrow B, Driscol DA, Moons L, Esguerra CV, Carmeliet G, Behn-Krappa A, Devriendt K, Collen D, Conway SJ, Carmeliet P.
|
| Nat Med 9(2):173-82. 2003
|
| 78 | DEL22Q11, DGS2
|
| DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion
|
| Bartsch O, Nemeckova M, Kocarek E, Wagner A, Puchmajerova A, Poppe M, Ounap K, Goetz P.
|
| Am J Med Genet 117A(1):1-5. 2003
|
| 79 | DEL22Q11, TBX1
|
| DiGeorge's syndrome: a gene at last.
|
| Baldini A.
|
| Lancet 362(9393):1342-3. No abstract available. 2003
|
| 80 | DEL22Q11, TBX1
|
| Role of TBX1 in human del22q11.2 syndrome.
|
| 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.
|
| Lancet 362(9393):1366-73. 2003
|
| 81 | DEL22Q11
|
| 22q11 deletion: a multisystem disorder requiring multidisciplinary input.
|
| Greenhalgh KL, Aligianis IA, Bromilow G, Cox H, Hill C, Stait Y, Leech BJ, Lunt PW, Ellis M.
|
| Arch Dis Child 88(6):523-4. 2003
|
| 82 | DEL22Q11
|
| A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.
|
| Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, Merritt RK, O'Leary LA, Wong LY, Elixson EM, Mahle WT, Campbell RM.
|
| Pediatrics 112(1 Pt 1):101-7. 2003
|
| 83 | DEL22Q11
|
| Kousseff syndrome caused by deletion of chromosome 22q11-13.
|
| Forrester S, Kovach MJ, Smith RE, Rimer L, Wesson M, Kimonis VE.
|
| Am J Med Genet 112(4):338-42. 2002
|
| 84 | DGS2, DEL22Q11
|
| Chromosome 10p13-14 and 22q11 deletion screening in 100 patients with isolated and syndromic conotruncal heart defects.
|
| Voigt R, Maier-Weidmann M, Lange PE, Haaf T.
|
| J Med Genet 39(4):e16. No abstract available. 2002
|
| 85 | DEL22Q11, DUP22Q11, DER22S, CES
|
| Genomic disorders on 22q11.
|
| McDermid HE, Morrow BE.
|
| Am J Hum Genet 70(5):1077-88. Epub 2002 Mar 29. Review. 2002
|
| 86 | DEL22Q11
|
| Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).
|
| Perez E, Sullivan KE.
|
| Curr Opin Pediatr 14(6):678-83. Review. 2002
|
| 87 | DEL22Q11, GP1BB
|
| Bernard-Soulier syndrome associated with 22q11.2 microdeletion.
|
| Nakagawa M, Okuno M, Okamoto N, Fujino H, Kato H.
|
| Am J Med Genet 99(4):286-8. 2001
|
| 88 | DEL22Q11
|
| A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?
|
| Henwood J, Pickard C, Leek JP, Bennett CP, Crow YJ, Thompson JD, Ahmed M, Watterson KG, Parsons JM, Roberts E, Lench NJ.
|
| J Med Genet 38(8):533-6. No abstract available. 2001
|
| 89 | VCF, DEL22Q11
|
| Velopharyngeal incompetence and chromosome 22q11 deletion.
|
| Boorman JG, Varma S, Ogilvie CM.
|
| Lancet 357(9258):774. 2001
|
| 90 | DEL22Q11
|
| Three new patients with congenital unilateral facial nerve palsy due to chromosome 22q11 deletion.
|
| Punal JE, Siebert MF, Angueira FB, Lorenzo AV, Castro-Gago M.
|
| J Child Neurol 16(6):450-2. 2001
|
| 91 | DEL22Q11
|
| Graves' disease in patients with 22q11.2 deletion.
|
| Kawame H, Adachi M, Tachibana K, Kurosawa K, Ito F, Gleason MM, Weinzimer S, Levitt-Katz L, Sullivan K, McDonald-McGinn DM.
|
| J Pediatr 139(6):892-5. 2001
|
| 92 | DEL22Q11, TBX1
|
| Chromosomal microdeletions: dissecting del22q11 syndrome.
|
| Lindsay EA.
|
| Nat Rev Genet 2(11):858-68. Review. 2001
|
| 93 | CRKL, DEL22Q11
|
| Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome.
|
| Guris DL, Fantes J, Tara D, Druker BJ, Imamoto A.
|
| Nat Genet 27(3):293-8. 2001
|
| 94 | GGTLA1, ZNF74, DEL22Q11
|
| Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.
|
| Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, Roe BA, Driscoll DA, McDonald-McGinn DM, Zackai EH, Budarf ML, Emanuel BS.
|
| Hum Mol Genet 9(4):489-501. 2000
|
| 95 | DEL22Q11
|
| 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 92(4):269-72. 2000
|
| 96 | DGS2, DEL22Q11
|
| Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.
|
| Berend SA, Spikes AS, Kashork CD, Wu JM, Daw SC, Scambler PJ, Shaffer LG.
|
| Am J Med Genet 91(4):313-7. 2000
|
| 97 | DEL22Q11
|
| Microdeletion 22q11 and oesophageal atresia.
|
| Digilio MC, Marino B, Bagolan P, Giannotti A, Dallapiccola B.
|
| J Med Genet 36 : 137-139. 1999
|
| 98 | DEL22Q11
|
| A novel 22q11.2 microdeletion in DiGeorge syndrome.
|
| Rauch A, et al.
|
| Am J Hum Genet 64(2):658-66. No abstract available 1999
|
| 99 | VCF, DEL22Q11
|
| Der(22) syndrome and velo-cardio-facial Syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.
|
| Funke B, et al.
|
| Am J Hum Genet 64(3):747-58. 1999
|
| 100 | LCR22, DEL22Q11
|
| A common molecular basis for rearrangement disorders on chromosome 22q11.
|
| Edelmann L, et al.
|
| Hum Mol Genet 8(7):1157-1167. 1999
|
| 101 | DEL22Q11
|
| Clinical relevance of monosomy 22q11.2 in children with pulmonary atresia and ventricular septal defect.
|
| Hofbeck M, et al.
|
| Eur J Pediatr 158(4):302-7. 1999
|
| 102 | DEL22Q11, UFD1
|
| Mutations of UFD1L Are Not Responsible for the Majority of Cases of DiGeorge Syndrome/Velocardiofacial Syndrome without Deletions within Chromosome 22q11.
|
| Wadey R, et al.
|
| Am J Hum Genet 65(1):247-249. No abstract available 1999
|
| 103 | DEL22Q11
|
| A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects.
|
| Yamagishi H, et al.
|
| Science 283(5405):1158-61. 1999
|
| 104 | DEL22Q11, VCF
|
| A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.
|
| Saitta SC, et al.
|
| Am J Hum Genet 65(2):562-6. No abstract available 1999
|
| 105 | DEL22Q11, VCF
|
| 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(1):27-33 1999
|
| 106 | DEL22Q11
|
| Congenital heart disease in mice deficient for the DiGeorge syndrome region.
|
| Lindsay EA, et al.
|
| Nature 401(6751):379-83. 1999
|
| 107 | DEL22Q11
|
| Microdeletion 22q11.2: clinical data and deletion size.
|
| Kerstjens-Frederikse WS, et al.
|
| J Med Genet 36(9):721-3. No abstract available 1999
|
| 108 | DEL22Q11
|
| Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.
|
| [No authors listed]
|
| Eur J Hum Genet 7(8):903-9 1999
|
| 109 | VCF, DEL22Q11
|
| Psychiatric inpatients and chromosome deletions within 22q11.2.
|
| Sugama S, Namihira T, Matsuoka R, Taira N, Eto Y, Maekawa K.
|
| J Neurol Neurosurg Psychiatry 67(6):803-6. 1999
|
| 110 | DEL22Q11, VCF
|
| Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.
|
| Edelmann L, Pandita RK, Morrow BE.
|
| Am J Hum Genet 64(4):1076-86. 1999
|
| 111 | DEL22Q11
|
| Molecular confirmation of germ line mosaicism for a submicroscopic deletion of chromosome 22q11.
|
| Hatchwell E, et al.
|
| Am J Med Genet 78 : 103-106. 1998
|
| 112 | DEL22Q11
|
| 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
|
| 113 | DEL22Q11, GSC2
|
| Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a bicoid-like specificity and is expressed in the developing mouse brain.
|
| Gottlieb S, et al.
|
| Hum Mol Genet 7 : 1497-1505. 1998
|
| 114 | ACF, DEL22Q11
|
| Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome.
|
| Matsuoka R, Kimura M, Scambler PJ, Morrow BE, Imamura S, Minoshima S, Shimizu N, Yamagishi H, Joh-o K, Watanabe S, Oyama K, Saji T, Ando M, Takao A, Momma K.
|
| Hum Genet 103(1):70-80. 1998
|
| 115 | DEL22Q11
|
| Microsatellite DNA markers detects 95% of chromosome 22q11 deletions.
|
| Bonnet D, et al.
|
| Am J Med Genet 68 : 182-184. 1997
|
| 116 | DEL22Q11, CLDN5
|
| Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome.
|
| Sirotkin H, Morrow B, Saint-Jore B, Puech A, Das Gupta R, Patanjali SR, Skoultchi A, Weissman SM, Kucherlapati R.
|
| Genomics 42(2):245-51. 1997
|
| 117 | DEL22Q11
|
| Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region.
|
| O'Donnell H, McKeown C, Gould C, Morrow B, Scambler P.
|
| Am J Hum Genet 60(6):1544-8. 1997
|
| 118 | DEL22Q11
|
| 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
|
| 119 | DEL22Q11, TBX1
|
| Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene.
|
| Chieffo C, Garvey N, Gong W, Roe B, Zhang G, Silver L, Emanuel BS, Budarf ML.
|
| Genomics 43(3):267-77. 1997
|
| 120 | DEL22Q11
|
| Idiopathic thromobocytopenic purpura in two mothers of children with DiGeorge sequence : a new component manifestation of deletion 22q11?
|
| LŽvy A, et al.
|
| Am J Med Genet 69 : 356-359. 1997
|
| 121 | DEL22Q11
|
| Spectrum of clinical features associated with interstitial chromosome 22q11 deletions : a European collaborative study.
|
| Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, 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, Scambler PJ, et al.
|
| J Med Genet 34(10):798-804. 1997
|
| 122 | DEL22Q11, VCF
|
| Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.
|
| 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.
|
| Am J Hum Genet 61(3):620-9. 1997
|
| 123 | DEL22Q11, SERPIND1
|
| Another critical region for deletion of 22q11 : a study of 100 patients.
|
| Kurahashi H, et al.
|
| Am J med Genet 72 : 180-185. 1997
|
| 124 | DEL22Q11
|
| Skeletal anomalies and deformities in patients with deletions of 22q11.
|
| Ming JE, McDonald-McGinn DM, Megerian TE, Driscoll DA, Elias ER, Russell BM, Irons M, Emanuel BS, Markowitz RI, Zackai EH.
|
| Am J Med Genet 72(2):210-5. 1997
|
| 125 | DEL22Q11, SEPTIN5
|
| A member of the septin gene family is deleted in DiGeorge syndrome and its mouse homolog is highly expressed during embryogenesis in the nervous system and skeletal primordia. (abstr)
|
| Botta A, et al.
|
| Am J Hum Genet 61 : A34. 1997
|
| 126 | CHARGE, DEL22Q11
|
| Features of DiGeorge syndrome and CHARGE association in five patients.
|
| de Lonlay-Debeney P, Cormier-Daire V, Amiel J, Abadie V, Odent S, Paupe A, Couderc S, Tellier AL, Bonnet D, Prieur M, Vekemans M, Munnich A, Lyonnet S.
|
| J Med Genet 34(12):986-9. 1997
|
| 127 | DEL22Q11
|
| Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization.
|
| Puech A, Saint-Jore B, Funke B, Gilbert DJ, Sirotkin H, Copeland NG, Jenkins NA, Kucherlapati R, Morrow B, Skoultchi AI.
|
| Proc Natl Acad Sci U S A 94(26):14608-13. 1997
|
| 128 | DEL22Q11, DGCR14
|
| Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region.
|
| Gong W, Emanuel BS, Galili N, Kim DH, Roe B, Driscoll DA, Budarf ML.
|
| Hum Mol Genet 6(2):267-76. 1997
|
| 129 | DEL22Q11
|
| Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
|
| Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, 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, Scambler PJ, et al.
|
| J Med Genet 34(10):798-804. 1997
|
| 130 | DEL22Q11, DGCR2, HIRA
|
| A transcription map in the CATCH22 critical region : identification, mapping, and ordering of four novel transcripts expressed in heart.
|
| Lindsay EA, et al.
|
| Genomics 32 : 104-112. 1996
|
| 131 | CLTCL1, DEL22Q11, VCF
|
| Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome.
|
| Sirotkin H, et al.
|
| Hum Mol Genet 5 : 617-624. 1996
|
| 132 | DEL22Q11, DGCR6
|
| Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes.
|
| Demczuk S, et al.
|
| Hum Mol Genet 5 : 633-638. 1996
|
| 133 | DEL22Q11, DGCR2, HIRA
|
| Deletion mapping of 22q11 in CATCH22 syndrome : identification of a second critical region.
|
| Kurahashi H, et al.
|
| Am J Hum Genet 58 : 1377-1381. 1996
|
| 134 | DEL22Q11
|
| Transient congenital hypoparathyroidism : resolution and recurrence in chromosome 22q11 deletion.
|
| Greig F, et al.
|
| J Pediatr 128 : 563-567. 1996
|
| 135 | DEL22Q11
|
| How many breaks do we need to CATCH on 22q11?
|
| Dallapiccola B, et al.
|
| Am J Hum Genet 59 : 7-11. 1996
|
| 136 | CLTCL1, DEL22Q11
|
| Cloning and characterization of a novel human clathrin heavy chain gene (CLTCL).
|
| Long KR, et al.
|
| Genomics 35 : 466-472. 1996
|
| 137 | DEL22Q11, KMS
|
| Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q11.2.
|
| Li M, et al.
|
| Am J Med Genet 65 : 101-103. 1996
|
| 138 | DEL22Q11, WHS, WHSCR
|
| Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22)(p16.3;q11.2)mat,-22.
|
| Reddy KS, et al.
|
| J Med Genet 33 : 852-855. 1996
|
| 139 | DEL22Q11
|
| Heterotaxia syndromes and 22q11 deletion.
|
| Marino B, et al.
|
| J Med Genet 33 : 1052. 1996
|
| 140 | DEL22Q11, VCF
|
| Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.
|
| Ravnan JB, et al.
|
| Am J Med Genet 66 : 250-256. 1996
|
| 141 | CLTC, DGCR11, D22S1566, D22S1567, D22S1568, D22S1569, D22S1570, D22S1571, D22S1572, D22S1573, D22S1574, D22S1575, D22S1576, D22S1577, D22S1578, DEL22Q11, DGCR2, TBX1, DGCR9, SLC25A1, TSSK2,
|
| A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.
|
| Gong W, Emanuel BS, Collins J, Kim DH, Wang Z, Chen F, Zhang G, Roe B,Budarf ML.
|
| Hum Mol Genet 5(6):789-800. 1996
|
| 142 | DEL22Q11
|
| Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome.
|
| Levy A, et al.
|
| Hum Mol Genet 4 : 2417-2419. 1995
|
| 143 | DEL22Q11
|
| Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations : a prospective study.
|
| Takahashi K, et al.
|
| Eur J Pediatr 154 : 878-881. 1995
|
| 144 | DEL22Q11, VCF
|
| Submicroscopic deletions at 22q11.2 : variability of the clinical picture and delineation of a commonly deleted region.
|
| Lindsay EA, et al.
|
| Am J Med Genet 56 : 191-197. 1995
|
| 145 | DEL22Q11, GP1BB
|
| Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velo-cardio-facial chromosomal region in 22q11.2.
|
| Budarf ML, et al.
|
| Hum Mol Genet 4 : 763-766. 1995
|
| 146 | HIRA, DEL22Q11
|
| A human homolog of the S.cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region.
|
| Lamour V, et al.
|
| Hum Mol Genet 4 : 791-799. 1995
|
| 147 | DGCR2, DEL22Q11
|
| Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome.
|
| Wadey R, et al.
|
| Hum Mol Genet 4 : 1027-1033. 1995
|
| 148 | VCF, DEL22Q11
|
| Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature.
|
| Demczuk S, et al.
|
| Hum Genet 96 : 9-13. 1995
|
| 149 | D22S183, DEL22Q11
|
| Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183).
|
| Mulder MP, et al.
|
| Hum Genet 96 : 133-141. 1995
|
| 150 | DEL22Q11
|
| Idiopathic hypoparathyroidism in two patients with 22q11 microdeletion.
|
| Makita Y, et al.
|
| J Med Genet 32 : 669. 1995
|
| 151 | DEL22Q11, TBX1
|
| Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene.
|
| Budarf ML, et al.
|
| Nat Genet 10 : 269-78. 1995
|
| 152 | DEL22Q11
|
| Two patients with overlapping De novo duplications of the long arm of chromosome 9, including one case with Di George sequence.
|
| Lindgren V, et al.
|
| Am J Med Genet 49 : 67-73. 1994
|
| 153 | DEL22Q11
|
| Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome.
|
| Kurahashi H, et al.
|
| Hum Genet 93 : 248-254. 1994
|
| 154 | DEL22Q11
|
| Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysis.
|
| Franke UC, et al.
|
| Clin Genet 46 : 187-192. 1994
|
| 155 | DEL22Q11
|
| Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization.
|
| Demczuk S, et al.
|
| Ann Genet 37 : 60-65. 1994
|
| 156 | VCF, DEL22Q11
|
| Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region.
|
| Nickel RE, et al.
|
| Am J Med Genet 52 : 445-449. 1994
|
| 157 | DEL22Q11
|
| Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions.
|
| Scir G, et al.
|
| Am J Med Genet 52 : 478-482. 1994
|
| 158 | CTHM1, DEL22Q11
|
| Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.
|
| Matsuoka R, et al.
|
| Am J Med Genet 53 : 285-289. 1994
|
| 159 | DEL22Q11
|
| DiGeorge syndrome : part of CATCH 22.
|
| Wilson DI, et al.
|
| J Med Genet 30 : 852-856. 1993
|
| 160 | DEL22Q11
|
| Physical mapping by FISH of the DiGeorge critical region (DGCR) : involvement of the region in familial cases.
|
| Desmaze C, et al.
|
| Am J Hum Genet 53 : 1239-1249. 1993
|
| 161 | DEL22Q11, HIRA
|
| Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.
|
| Halford S, et al.
|
| Hum Mol Genet 2 : 2099-2107. 1993
|
| 162 | DEL22Q11
|
| Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization.
|
| Lindsay EA, et al.
|
| Genomics 17 : 403-407. 1993
|
| 163 | DEL22Q11, ZNF74
|
| Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome.
|
| Aubry M, et al.
|
| Hum Mol Genet 2 : 1583-1587. 1993
|
| 164 | DEL22Q11
|
| Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.
|
| Goldmuntz E, et al.
|
| J Med Genet 30 : 807-812. 1993
|
| 165 | DEL22Q11
|
| DiGeorge syndrome : an historical review of clinical and cytogenetic features.
|
| Greenberg F.
|
| J Med Genet 30 : 803-806. 1993
|
| 166 | DEL22Q11, VCF
|
| Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes : implications for genetic counselling and prenatal diagnosis.
|
| Driscoll DA, et al.
|
| J Med Genet 30 : 813-817. 1993
|
| 167 | DEL22Q11, VCF
|
| Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.
|
| Halford S, et al.
|
| Hum Mol Genet 2 : 191-196. 1993
|
| 168 | DEL22Q11
|
| Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization.
|
| Desmaze C, et al.
|
| Hum Genet 90 : 663-665. 1993
|
| 169 | ACF, DEL22Q11
|
| Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.
|
| Burn J, Takao A, Wilson D, Cross I, Momma K, Wadey R, Scambler P, Goodship J.
|
| J Med Genet 30(10):822-4. 1993
|
| 170 | DEL22Q11
|
| A genetic etiology for DiGeoge syndrome : consistent deletions and microdeletions of 22q11.
|
| Driscoll DA, et al.
|
| Am J Hum Genet 50 : 924-933. 1992
|
| 171 | VCF, DEL22Q11
|
| Detection of microdeletions of 22q11.2 with fluorescence in situ hybridization (FISH) : diagnosis of DiGeorge syndrome (DGS), velo-cardio-facial (VCF) syndrome, CHARGE association and conotruncal cardiac malformations.
|
| Emanuel BS, et al.
|
| Am J Hum Genet 51 : A3. 1992
|
| 172 | DEL22Q11
|
| Isolation and characterization of a cDNA from 22q11.2 that maps to the DiGeorge syndrome critical region (DGCR).
|
| Budarf ML, et al.
|
| Am J Hum Genet 51 : A119. 1992
|
| 173 | DEL22Q11
|
| An individual with Noonan's syndrome and DiGeorge syndrome associated with monosomy 22q11.
|
| Wilson DI, et al.
|
| Am J Hum Genet 51 : A110. 1992
|
| 174 | DEL22Q11
|
| DiGeorge syndrome with del(4)(q21.3q25) : possibility of the fourth chromosome region responsible for DiGeorge syndrome.
|
| Fukushima Y, et al.
|
| Am J Hum Genet 51 : A80. 1992
|
| 175 | CES, DEL22Q11
|
| Genetic characterization of the DiGeorge and cat eye syndromes.
|
| Demczuk S, et al.
|
| Am J Hum Genet 51 : A78. 1992
|
| 176 | DEL22Q11
|
| Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.
|
| Carey AH, et al.
|
| Am J Hum Genet 51 : 964-970. 1992
|
| 177 | DEL22Q11
|
| A prospective cytogenic study of 36 cases of DiGeorge syndrome.
|
| Wilson DI, et al.
|
| Am J Hum Genet 51 : 957-963. 1992
|
| 178 | DEL22Q11
|
| Molecular studies of a translocated (X;22) DiGeorge patient using somatic cell hybridization.
|
| Couillin P, et al.
|
| Ann Genet 35 : 140-145. 1992
|
| 179 | DEL22Q11
|
| Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2).
|
| Lupski JR, et al.
|
| Am J Med Genet 40 : 196-198. 1991
|
| 180 | DEL22Q11
|
| DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.
|
| Wilson DI, et al.
|
| Br Heart J 66 : 308-312. 1991
|
| 181 | DEL22Q11
|
| Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.
|
| Scambler PJ, et al.
|
| Genomics 10 : 201-206. 1991
|
| 182 | DEL22Q11
|
| Molecular studies of DiGeorge syndrome.
|
| Fibison WJ, et al.
|
| Am J Hum Genet 46 : 888-895. 1990
|
| 183 | DEL22Q11
|
| Interstitial deletion of chromosome 22 in a patient with the DiGeorge malformation sequence.
|
| Mascarello JT, et al.
|
| Am J Med Genet 32 : 112-114. 1989
|
| 184 | DEL22Q11
|
| DiGeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature.
|
| Dallapiccola B, Marino B, Giannotti A, Valorani G.
|
| Ann Genet 32 : 92-96. 1989
|
| 185 | DEL22Q11, DGS2, BFAR
|
| Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.
|
| Greenberg F, Elder FF, Haffner P, Northrup H, Ledbetter DH.
|
| Am J Hum Genet 43 : 605-611. 1988
|
| 186 | DEL22Q11
|
| Partial monosomy 22 as result of an X/22 translocation in a newborn with diGeorge syndrome.
|
| Schwanitz G, et al.
|
| Ann Genet 30 : 80-84. 1987
|
| 187 | DEL22Q11
|
| Features of diGeorge syndrome in a child with 45,XX, -3,-22,+der(3),t(3;22)(p25;11).
|
| Faed MJW, et al.
|
| J Med Genet 24 : 225-234. 1987
|
| 188 | DEL22Q11
|
| Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement.
|
| Bowen P, et al.
|
| Clin Genet 29 : 174-177. 1986
|
| 189 | DEL22Q11, BFAR
|
| DiGeorge syndrome and 22q11 rearrangements.
|
| Augusseau S, et al.
|
| Hum Genet 74 : 206. 1986
|
| 190 | DEL22Q11
|
| In situ hybridization and translocation breakpoint mapping. III.Di George syndrome with partial monosomy of chromosome 22.
|
| Cannizzaro LA, et al.
|
| Cytogenet Cell Genet 39 : 179-183. 1985
|
| 191 | DEL22Q11
|
| Familial DiGeorge syndrome and associated partial momosomy ofchromosome 22.
|
| Greenberg F, et al.
|
| Hum Genet 65 : 317-319. 1984
|
| 192 | DEL22Q11
|
| Monosomy for gene(s) in 22q11 can cause DiGeorge syndrome.
|
| de La Chapelle A, et al.
|
| Cytogenet Cell Genet 32 : 264. 1982
|
| 193 | DEL22Q11
|
| The association of the DiGeorge anomalad with partial monosomy of chromosome 22.
|
| Kelley RI, et al.
|
| J Pediatr 101 : 197-200. 1982
|
| 194 | DEL22Q11
|
| A deletion in chromosome 22 can cause DiGeorge syndrome.
|
| de La Chapelle A, et al.
|
| Hum Genet 57 : 253-256. 1981
|