295 related articles for article (PubMed ID: 18000907)
1. A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients.
Erickson RP; Díaz de Ståhl T; Bruder CE; Dumanski JP
Am J Med Genet A; 2007 Dec; 143A(24):3302-8. PubMed ID: 18000907
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
McDonald-McGinn DM; Kirschner R; Goldmuntz E; Sullivan K; Eicher P; Gerdes M; Moss E; Solot C; Wang P; Jacobs I; Handler S; Knightly C; Heher K; Wilson M; Ming JE; Grace K; Driscoll D; Pasquariello P; Randall P; Larossa D; Emanuel BS; Zackai EH
Genet Couns; 1999; 10(1):11-24. PubMed ID: 10191425
[TBL] [Abstract][Full Text] [Related]
5. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!
McDonald-McGinn DM; Tonnesen MK; Laufer-Cahana A; Finucane B; Driscoll DA; Emanuel BS; Zackai EH
Genet Med; 2001; 3(1):23-9. PubMed ID: 11339373
[TBL] [Abstract][Full Text] [Related]
6. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
Koczkowska M; Wierzba J; Śmigiel R; Sąsiadek M; Cabała M; Ślężak R; Iliszko M; Kardaś I; Limon J; Lipska-Ziętkiewicz BS
J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
[TBL] [Abstract][Full Text] [Related]
7. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.
McDonald-McGinn DM; Driscoll DA; Bason L; Christensen K; Lynch D; Sullivan K; Canning D; Zavod W; Quinn N; Rome J
Am J Med Genet; 1995 Oct; 59(1):103-13. PubMed ID: 8849001
[TBL] [Abstract][Full Text] [Related]
8. Is the autosomal dominant Optiz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2?
Wulfsberg EA
Am J Med Genet; 1996 Aug; 64(3):523-4. PubMed ID: 8862634
[No Abstract] [Full Text] [Related]
9. 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
Am J Hum Genet; 2008 Jan; 82(1):214-21. PubMed ID: 18179902
[TBL] [Abstract][Full Text] [Related]
10. Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome.
Fryburg JS; Lin KY; Golden WL
Am J Med Genet; 1996 Mar; 62(3):274-5. PubMed ID: 8882786
[TBL] [Abstract][Full Text] [Related]
11. Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.
Saitta SC; Harris SE; McDonald-McGinn DM; Emanuel BS; Tonnesen MK; Zackai EH; Seitz SC; Driscoll DA
Am J Med Genet A; 2004 Jan; 124A(3):313-7. PubMed ID: 14708107
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.
McDonald-McGinn DM; LaRossa D; Goldmuntz E; Sullivan K; Eicher P; Gerdes M; Moss E; Wang P; Solot C; Schultz P; Lynch D; Bingham P; Keenan G; Weinzimer S; Ming JE; Driscoll D; Clark BJ; Markowitz R; Cohen A; Moshang T; Pasquariello P; Randall P; Emanuel BS; Zackai EH
Genet Test; 1997; 1(2):99-108. PubMed ID: 10464633
[TBL] [Abstract][Full Text] [Related]
14. [Genotype and phenotype study of two patients with 22q11.2 deletion syndrome].
Zhu H; Wang A; Zhang H; Ji C; Zhan X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct; 31(5):623-7. PubMed ID: 25297596
[TBL] [Abstract][Full Text] [Related]
15. Genetic basis of DiGeorge and velocardiofacial syndromes.
Driscoll DA
Curr Opin Pediatr; 1994 Dec; 6(6):702-6. PubMed ID: 7849818
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. The 22q11.2 deletion syndrome.
Emanuel BS; McDonald-McGinn D; Saitta SC; Zackai EH
Adv Pediatr; 2001; 48():39-73. PubMed ID: 11480765
[TBL] [Abstract][Full Text] [Related]
18. Prenatal diagnosis of the 22q11.2 deletion syndrome.
Driscoll DA
Genet Med; 2001; 3(1):14-8. PubMed ID: 11339370
[TBL] [Abstract][Full Text] [Related]
19. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
Driscoll DA; Salvin J; Sellinger B; Budarf ML; McDonald-McGinn DM; Zackai EH; Emanuel BS
J Med Genet; 1993 Oct; 30(10):813-7. PubMed ID: 8230155
[TBL] [Abstract][Full Text] [Related]
20. Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome.
Oh AK; Workman LA; Wong GB
Cleft Palate Craniofac J; 2007 Jan; 44(1):62-6. PubMed ID: 17214538
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]