Similar articles for PMID: 14526392

Year	Number of Results
1993	2
1995	2
1996	1
1997	1
1998	3
1999	5
2000	4
2001	8
2002	1
2003	3
2004	3
2005	5
2006	6
2007	10
2008	7
2009	9
2010	2
2011	3
2012	4
2013	5
2014	9
2015	5
2016	2
2017	3
2019	2
2020	2
2022	1
2024	0

1

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.

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. Ensenauer RE, et al. Am J Hum Genet. 2003 Nov;73(5):1027-40. doi: 10.1086/378818. Epub 2003 Oct 2. Am J Hum Genet. 2003. PMID: 14526392 Free PMC article.

2

22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

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. Portnoï MF, et al. Am J Med Genet A. 2005 Aug 15;137(1):47-51. doi: 10.1002/ajmg.a.30847. Am J Med Genet A. 2005. PMID: 16007629 Review.

3

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, Caballín MR, Guitart M. Brunet A, et al. Am J Med Genet A. 2006 Nov 15;140(22):2426-32. doi: 10.1002/ajmg.a.31499. Am J Med Genet A. 2006. PMID: 17041934

4

An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.

Diehl A, Mu W, Batista D, Gunay-Aygun M. Diehl A, et al. Am J Med Genet A. 2015 Jul;167(7):1644-9. doi: 10.1002/ajmg.a.37066. Epub 2015 Mar 30. Am J Med Genet A. 2015. PMID: 25823593

5

Distal 22q11.2 microduplication encompassing the BCR gene.

Descartes M, Franklin J, Diaz de Ståhl T, Piotrowski A, Bruder CE, Dumanski JP, Carroll AJ, Mikhail FM. Descartes M, et al. Am J Med Genet A. 2008 Dec 1;146A(23):3075-81. doi: 10.1002/ajmg.a.32572. Am J Med Genet A. 2008. PMID: 19006218

6

A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene.

Mikhail FM, Descartes M, Piotrowski A, Andersson R, Diaz de Ståhl T, Komorowski J, Bruder CE, Dumanski JP, Carroll AJ. Mikhail FM, et al. Am J Med Genet A. 2007 Sep 15;143A(18):2178-84. doi: 10.1002/ajmg.a.31882. Am J Med Genet A. 2007. PMID: 17676630

7

DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion.

Bartsch O, Nemecková M, Kocárek E, Wagner A, Puchmajerová A, Poppe M, Ounap K, Goetz P. Bartsch O, et al. Am J Med Genet A. 2003 Feb 15;117A(1):1-5. doi: 10.1002/ajmg.a.10914. Am J Med Genet A. 2003. PMID: 12548732

8

An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.

Pebrel-Richard C, Kemeny S, Gouas L, Eymard-Pierre E, Blanc N, Francannet C, Tchirkov A, Goumy C, Vago P. Pebrel-Richard C, et al. Eur J Med Genet. 2012 Nov;55(11):650-5. doi: 10.1016/j.ejmg.2012.06.014. Epub 2012 Jul 14. Eur J Med Genet. 2012. PMID: 22796526

9

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

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. Ou Z, et al. Genet Med. 2008 Apr;10(4):267-77. doi: 10.1097/GIM.0b013e31816b64c2. Genet Med. 2008. PMID: 18414210 Free article.

10

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

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. Ben-Shachar S, et al. Am J Hum Genet. 2008 Jan;82(1):214-21. doi: 10.1016/j.ajhg.2007.09.014. Am J Hum Genet. 2008. PMID: 18179902 Free PMC article.

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