147 related articles for article (PubMed ID: 15889418)
1. Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome.
Fernández L; Lapunzina P; Pajares IL; Criado GR; García-Guereta L; Pérez J; Quero J; Delicado A
Am J Med Genet A; 2005 Jul; 136(1):71-5. PubMed ID: 15889418
[TBL] [Abstract][Full Text] [Related]
2. 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; 2004; 6(6):517-20. PubMed ID: 15545748
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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; 2003 Oct; 362(9393):1366-73. PubMed ID: 14585638
[TBL] [Abstract][Full Text] [Related]
5. Mosaic 22q11.2 deletion and tetralogy of Fallot with absent pulmonary valve: an unreported association.
Prabhu S; Jenny B; James H; Provenzano S
World J Pediatr Congenit Heart Surg; 2015 Apr; 6(2):342-5. PubMed ID: 25870364
[TBL] [Abstract][Full Text] [Related]
6. Molecular characterization of 22q11 deletion in a three-generation family with maternal transmission.
Iascone MR; Vittorini S; Sacchelli M; Spadoni I; Simi P; Giusti S
Am J Med Genet; 2002 Apr; 108(4):319-21. PubMed ID: 11920838
[TBL] [Abstract][Full Text] [Related]
7. Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.
Lindsay EA; Goldberg R; Jurecic V; Morrow B; Carlson C; Kucherlapati RS; Shprintzen RJ; Baldini A
Am J Med Genet; 1995 Jul; 57(3):514-22. PubMed ID: 7677167
[TBL] [Abstract][Full Text] [Related]
8. 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; 2000 Jun; 92(4):269-72. PubMed ID: 10842294
[TBL] [Abstract][Full Text] [Related]
9. 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.
Amati F; Mari A; Digilio MC; Mingarelli R; Marino B; Giannotti A; Novelli G; Dallapiccola B
Hum Genet; 1995 May; 95(5):479-82. PubMed ID: 7759065
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. [Detection and related analysis to chromosome 22q11 microdeletion in patients with congenital heart diseases].
Xu ZF; Yi L; Mo XM; Hu Y; Wang DJ; Zhu RF; Jiang YZ; Wu X; Wu Z; Shen L; Zhang Y; Zhong XL
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun; 23(3):250-5. PubMed ID: 16767657
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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; 2008 Jun; 126(3):374-8. PubMed ID: 17604138
[TBL] [Abstract][Full Text] [Related]
14. Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region.
Lindsay EA; Greenberg F; Shaffer LG; Shapira SK; Scambler PJ; Baldini A
Am J Med Genet; 1995 Mar; 56(2):191-7. PubMed ID: 7625444
[TBL] [Abstract][Full Text] [Related]
15. 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; 2000 Mar; 9(4):489-501. PubMed ID: 10699172
[TBL] [Abstract][Full Text] [Related]
16. Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and/or mental disability. A survey based on the Danish Facial Cleft Register.
Brøndum-Nielsen K; Christensen K
Clin Genet; 1996 Sep; 50(3):116-20. PubMed ID: 8946108
[TBL] [Abstract][Full Text] [Related]
17. Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis. Molecular genetic study.
Ivanov D; Kirov G; Norton N; Williams HJ; Williams NM; Nikolov I; Tzwetkova R; Stambolova SM; Murphy KC; Toncheva D; Thapar A; O'Donovan MC; Owen MJ
Br J Psychiatry; 2003 Nov; 183():409-13. PubMed ID: 14594915
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [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]
20. Tracheobronchial anomalies in chromosome 22q11.2 microdeletion.
Bertolani MF; Bergamini BM; Predieri B; Mirmassoumi S; Bertolani P; Sacco O; Ferrari P
Am J Med Genet A; 2006 Apr; 140(7):790-3. PubMed ID: 16526024
[No Abstract] [Full Text] [Related]
[Next] [New Search]
