| 1 | DEL22Q11D
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| The impact of 22q11.2 copy-number variants on human traits in the general population.
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| Zamariolli M, Auwerx C, Sadler MC, van der Graaf A, Lepik K, Schoeler T, Moysés-Oliveira M, Dantas AG, Melaragno MI, Kutalik Z.
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| Am J Hum Genet. Feb 2;110(2):300-313. doi: 10.1016/j.ajhg.2023.01.005. Epub 2023 Jan 26. 2023
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| 2 | CRKL, DEL22Q11D, MAPK1
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| Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.
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| Breckpot J, Thienpont B, Bauters M, Tranchevent LC, Gewillig M, Allegaert K, Vermeesch JR, Moreau Y, Devriendt K.
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| Am J Med Genet A 158A(3):574-80. doi: 10.1002/ajmg.a.35217. Epub 2012 Feb 8.
2012
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| 3 | DEL22Q11D, MAPK1
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| Heart defects and other features of the 22q11 distal deletion syndrome.
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| Fagerberg CR, Graakjaer J, Heinl UD, Ousager LB, Dreyer I, Kirchhoff M, Rasmussen AA, Lautrup CK, Birkebaek N, Sorensen K.
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| Eur J Med Genet ur J Med Genet. 2012 Oct 10. pii: S1769-7212(12)00276-5. doi: 10.1016/j.ejmg.2012.09.009. [Epub ahead of print] 2012
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| 4 | 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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| 5 | DEL22Q11D
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| A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder.
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| Verhoeven W, Egger J, Brunner H, de Leeuw N.
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| Am J Med Genet A 155(2):392-7. doi: 10.1002/ajmg.a.33802. Epub 2010 Dec 22.PMID: 21271660 2011
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| 6 | DEL16P112P, DEL17Q12, DEL22Q11D, MRKH
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| High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia.
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| Nik-Zainal S, Strick R, Storer M, Huang N, Rad R, Willatt L, Fitzgerald T, Martin V, Sandford R, Carter NP, Janecke AR, Renner SP, Oppelt PG, Oppelt P, Schulze C, Brucker S, Hurles M, Beckmann MW, Strissel PL, Shaw-Smith C.
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| J Med Genet 48(3):197-204. Epub 2011 Jan 28. 2011
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| 7 | DEL22Q11D, DUP22Q11D
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| Phenotypic variability of distal 22q11.2 copy number abnormalities.
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| Tan TY, Collins A, James PA, McGillivray G, Stark Z, Gordon CT, Leventer RJ, Pope K, Forbes R, Crolla JA, Ganesamoorthy D, Burgess T, Bruno DL, Slater HR, Farlie PG, Amor DJ.
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| Am J Med Genet A 155(7):1623-33. doi: 10.1002/ajmg.a.34051. Epub 2011 Jun 10. 2011
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| 8 | DEL22Q11D
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| Phenotypic variability of distal 22q11.2 copy number abnormalities.
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| Tan TY, Collins A, James PA, McGillivray G, Stark Z, Gordon CT, Leventer RJ, Pope K, Forbes R, Crolla JA, Ganesamoorthy D, Burgess T, Bruno DL, Slater HR, Farlie PG, Amor DJ.
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| Am J Med Genet A 155A(7):1623-33. doi: 10.1002/ajmg.a.34051. Epub 2011 Jun 10.
2011
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| 9 | DEL22Q11D
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| Left ventricular non-compaction on MRI in a patient with 22q11.2 distal deletion.
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| Madan S, Madan-Khetarpal S, Park SC, Surti U, Bailey AL, McConnell J, Tadros SS.
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| Am J Med Genet A 152A(5):1295-9.PMID: 20425839 2010
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| 10 | DEL15QD, DEL22Q11D, SRSX
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| Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients.
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| Bruce S, Hannula-Jouppi K, Puoskari M, Fransson I, Simola KO, Lipsanen-Nyman M, Kere J.
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| J Med Genet Med Genet. 2010 Sep 12. [Epub ahead of print]PMID: 19752157 2010
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| 11 | DEL22Q11D, HFM, SMARCB1
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| Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor.
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| Lafay-Cousin L, Payne E, Strother D, Chernos J, Chan M, Bernier FP.
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| Am J Med Genet A 149A(12):2855-9. 2009
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| 12 | DEL22Q11D
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| 22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome.
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| 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.
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| Am J Hum Genet 82(1):214-21. 2008
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| 13 | BCR, DEL22Q11D, DUP22Q11D
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| Distal 22q11.2 microduplication encompassing the BCR gene.
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| Descartes M, Franklin J, de Ståhl TD, Piotrowski A, Bruder CE, Dumanski JP, Carroll AJ, Mikhail FM.
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| Am J Med Genet A 146A(23):3075-3081 2008
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| 14 | DEL22Q11D
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| 1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype.
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| Rødningen OK, Prescott T, Eriksson AS, Røsby O.
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| Eur J Med Genet 51(6):646-50. Epub 2008 Aug 5.
2008
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| 15 | DEL22Q11, DEL22Q11D, MAPK1
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| Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development.
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| 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
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| 16 | DEL22Q11, DEL22BCR, DEL22Q11D
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| Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.
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| 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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| 17 | DEL22BCR, DEL22Q11D
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| A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene.
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| Mikhail FM, Descartes M, Piotrowski A, Andersson R, Diaz de Stahl T, Komorowski J, Bruder CE, Dumanski JP, Carroll AJ.
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| Am J Med Genet A 143(18):2178-84. 2007
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| 18 | DEL22Q11, DEL22Q11D, DUP22Q11
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| Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.
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| Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN, Weksberg R.
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| Am J Med Genet A 143(24):2924-30. 2007
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