344 related articles for article (PubMed ID: 22893440)
1. Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
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
Am J Med Genet A; 2012 Oct; 158A(10):2412-20. PubMed ID: 22893440
[TBL] [Abstract][Full Text] [Related]
2. Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
Beaujard MP; Chantot S; Dubois M; Keren B; Carpentier W; Mabboux P; Whalen S; Vodovar M; Siffroi JP; Portnoï MF
Eur J Med Genet; 2009; 52(5):321-7. PubMed ID: 19467348
[TBL] [Abstract][Full Text] [Related]
3. [Genetic and clinical characteristics of 22q11.2 deletion syndrome].
Kozlova IuO; Zabnenkova VV; Shilova NV; Min'zhenkova ME; Antonenko VG; Kotlukova NP; Simonova LV; Kazanceva IA; Levchenko EG; Bombardirova TD; Zolotukhina TV; Poliakov AV
Genetika; 2014 May; 50(5):602-10. PubMed ID: 25715476
[TBL] [Abstract][Full Text] [Related]
4. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
Zweier C; Sticht H; Aydin-Yaylagül I; Campbell CE; Rauch A
Am J Hum Genet; 2007 Mar; 80(3):510-7. PubMed ID: 17273972
[TBL] [Abstract][Full Text] [Related]
5. Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome.
Gao S; Li X; Amendt BA
Curr Allergy Asthma Rep; 2013 Dec; 13(6):613-21. PubMed ID: 23996541
[TBL] [Abstract][Full Text] [Related]
6. Central 22q11.2 deletions.
Rump P; de Leeuw N; van Essen AJ; Verschuuren-Bemelmans CC; Veenstra-Knol HE; Swinkels ME; Oostdijk W; Ruivenkamp C; Reardon W; de Munnik S; Ruiter M; Frumkin A; Lev D; Evers C; Sikkema-Raddatz B; Dijkhuizen T; van Ravenswaaij-Arts CM
Am J Med Genet A; 2014 Nov; 164A(11):2707-23. PubMed ID: 25123976
[TBL] [Abstract][Full Text] [Related]
7. The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.
Mikhail FM; Burnside RD; Rush B; Ibrahim J; Godshalk R; Rutledge SL; Robin NH; Descartes MD; Carroll AJ
Genet Med; 2014 Jan; 16(1):92-100. PubMed ID: 23765049
[TBL] [Abstract][Full Text] [Related]
8. Central 22q11.2 deletion (LCR22 B-D) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of CRKL haploinsufficiency in the pathogenesis of 22q11.2 deletion syndrome.
Lin I; Afshar Y; Goldstein J; Grossman J; Grody WW; Quintero-Rivera F
Am J Med Genet A; 2021 Oct; 185(10):3042-3047. PubMed ID: 34196458
[TBL] [Abstract][Full Text] [Related]
9. Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects.
Funke B; Epstein JA; Kochilas LK; Lu MM; Pandita RK; Liao J; Bauerndistel R; Schüler T; Schorle H; Brown MC; Adams J; Morrow BE
Hum Mol Genet; 2001 Oct; 10(22):2549-56. PubMed ID: 11709542
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T; Niihori T; Tanaka N; Kawai M; Nagashima T; Funayama R; Nakayama K; Nakashima S; Kato F; Fukami M; Aoki Y; Matsubara Y
PLoS One; 2014; 9(3):e91598. PubMed ID: 24637876
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Guo T; McDonald-McGinn D; Blonska A; Shanske A; Bassett AS; Chow E; Bowser M; Sheridan M; Beemer F; Devriendt K; Swillen A; Breckpot J; Digilio MC; Marino B; Dallapiccola B; Carpenter C; Zheng X; Johnson J; Chung J; Higgins AM; Philip N; Simon TJ; Coleman K; Heine-Suner D; Rosell J; Kates W; Devoto M; Goldmuntz E; Zackai E; Wang T; Shprintzen R; Emanuel B; Morrow B;
Hum Mutat; 2011 Nov; 32(11):1278-89. PubMed ID: 21796729
[TBL] [Abstract][Full Text] [Related]
16. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2.
Sandrin-Garcia P; Abramides DV; Martelli LR; Ramos ES; Richieri-Costa A; Passos GA
Mol Cell Biochem; 2007 Sep; 303(1-2):9-17. PubMed ID: 17426930
[TBL] [Abstract][Full Text] [Related]
17. Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).
McQuade L; Christodoulou J; Budarf M; Sachdev R; Wilson M; Emanuel B; Colley A
Am J Med Genet; 1999 Sep; 86(1):27-33. PubMed ID: 10440825
[TBL] [Abstract][Full Text] [Related]
18. Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus.
Xu YJ; Wang J; Xu R; Zhao PJ; Wang XK; Sun HJ; Bao LM; Shen J; Fu QH; Li F; Sun K
BMC Med Genet; 2011 Dec; 12():169. PubMed ID: 22185286
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [Phenotypic and genotypic analysis of a fetus carrying an intermediate 22q11.2 deletion encompassing the CRKL gene].
Lin S; Zheng X; Gu H; Li M
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Jun; 34(3):393-397. PubMed ID: 28604963
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]