458 related articles for article (PubMed ID: 17041934)
1. 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
Am J Med Genet A; 2006 Nov; 140(22):2426-32. PubMed ID: 17041934
[TBL] [Abstract][Full Text] [Related]
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
Am J Med Genet A; 2005 Aug; 137(1):47-51. PubMed ID: 16007629
[TBL] [Abstract][Full Text] [Related]
3. CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects.
Hou JW; Wang JK; Tsai WY; Chou CC; Wang TR
J Formos Med Assoc; 1997 Jun; 96(6):419-23. PubMed ID: 9216164
[TBL] [Abstract][Full Text] [Related]
4. 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
Am J Med Genet A; 2003 Feb; 117A(1):1-5. PubMed ID: 12548732
[TBL] [Abstract][Full Text] [Related]
5. 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
Am J Hum Genet; 2003 Nov; 73(5):1027-40. PubMed ID: 14526392
[TBL] [Abstract][Full Text] [Related]
6. [Congenital cardiovascular malformations and chromosome microdeletions in 22q11.2].
Trost D; Engels H; Bauriedel G; Wiebe W; Schwanitz G
Dtsch Med Wochenschr; 1999 Jan; 124(1-2):3-7. PubMed ID: 9951451
[TBL] [Abstract][Full Text] [Related]
7. [Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome].
Muñoz S; Garay F; Flores I; Heusser F; Talesnik E; Aracena M; Mellado C; Méndez C; Arnaiz P; Repetto G
Rev Med Chil; 2001 May; 129(5):515-21. PubMed ID: 11464533
[TBL] [Abstract][Full Text] [Related]
8. 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; 2000 Apr; 91(4):313-7. PubMed ID: 10766989
[TBL] [Abstract][Full Text] [Related]
9. A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.
Vaz SO; Pires R; Pires LM; Carreira IM; Anjos R; Maciel P; Mota-Vieira L
BMC Pediatr; 2015 Aug; 15():95. PubMed ID: 26297018
[TBL] [Abstract][Full Text] [Related]
10. BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1.
Brunet A; Armengol L; Heine D; Rosell J; García-Aragonés M; Gabau E; Estivill X; Guitart M
BMC Med Genet; 2009 Dec; 10():144. PubMed ID: 20030804
[TBL] [Abstract][Full Text] [Related]
11. FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities.
Yakut T; Kilic SS; Cil E; Yapici E; Egeli U
Pediatr Surg Int; 2006 Apr; 22(4):380-3. PubMed ID: 16463032
[TBL] [Abstract][Full Text] [Related]
12. Anatomic patterns of conotruncal defects associated with deletion 22q11.
Marino B; Digilio MC; Toscano A; Anaclerio S; Giannotti A; Feltri C; de Ioris MA; Angioni A; Dallapiccola B
Genet Med; 2001; 3(1):45-8. PubMed ID: 11339377
[TBL] [Abstract][Full Text] [Related]
13. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.
Ravnan JB; Chen E; Golabi M; Lebo RV
Am J Med Genet; 1996 Dec; 66(3):250-6. PubMed ID: 8985481
[TBL] [Abstract][Full Text] [Related]
14. Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.
Funke B; Edelmann L; McCain N; Pandita RK; Ferreira J; Merscher S; Zohouri M; Cannizzaro L; Shanske A; Morrow BE
Am J Hum Genet; 1999 Mar; 64(3):747-58. PubMed ID: 10053009
[TBL] [Abstract][Full Text] [Related]
15. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.
Alberti A; Romano C; Falco M; Calì F; Schinocca P; Galesi O; Spalletta A; Di Benedetto D; Fichera M
Clin Genet; 2007 Feb; 71(2):177-82. PubMed ID: 17250668
[TBL] [Abstract][Full Text] [Related]
16. 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
Am J Med Genet A; 2008 Dec; 146A(23):3075-81. PubMed ID: 19006218
[TBL] [Abstract][Full Text] [Related]
17. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.
Goldmuntz E; Driscoll D; Budarf ML; Zackai EH; McDonald-McGinn DM; Biegel JA; Emanuel BS
J Med Genet; 1993 Oct; 30(10):807-12. PubMed ID: 7901419
[TBL] [Abstract][Full Text] [Related]
18. 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes.
Cuneo BF
Curr Opin Pediatr; 2001 Oct; 13(5):465-72. PubMed ID: 11801894
[TBL] [Abstract][Full Text] [Related]
19. Concurrent microdeletion and duplication of 22q11.2.
Blennow E; Lagerstedt K; Malmgren H; Sahlén S; Schoumans J; Anderlid B
Clin Genet; 2008 Jul; 74(1):61-7. PubMed ID: 18445048
[TBL] [Abstract][Full Text] [Related]
20. Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion.
Fernández L; Lapunzina P; Pajares IL; Palomares M; Martínez I; Fernández B; Quero J; García-Guereta L; García-Alix A; Burgueros M; Galán-Gómez E; Carbonell-Pérez JM; Pérez-Granero A; Torres-Juan L; Heine-Suñer D; Rosell J; Delicado A
Am J Med Genet A; 2008 May; 146A(9):1134-41. PubMed ID: 18384142
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
