143 related articles for article (PubMed ID: 22373878)
21. Polyalanine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly.
Wajid M; Ishii Y; Kurban M; Dua-Awereh MB; Shimomura Y; Christiano AM
Clin Genet; 2009 Sep; 76(3):300-2. PubMed ID: 19686284
[No Abstract] [Full Text] [Related]
22. Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.
Goodman F; Giovannucci-Uzielli ML; Hall C; Reardon W; Winter R; Scambler P
Am J Hum Genet; 1998 Oct; 63(4):992-1000. PubMed ID: 9758628
[TBL] [Abstract][Full Text] [Related]
23. A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family.
Wang B; Xu B; Cheng Z; Zhou X; Wang J; Yang G; Cheng L; Yang J; Ma X
Clin Chim Acta; 2012 Jul; 413(13-14):1049-52. PubMed ID: 22374128
[TBL] [Abstract][Full Text] [Related]
24. The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes.
Bruneau S; Johnson KR; Yamamoto M; Kuroiwa A; Duboule D
Dev Biol; 2001 Sep; 237(2):345-53. PubMed ID: 11543619
[TBL] [Abstract][Full Text] [Related]
25. HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.
Kjaer KW; Hedeboe J; Bugge M; Hansen C; Friis-Henriksen K; Vestergaard MB; Tommerup N; Opitz JM
Am J Med Genet; 2002 Jun; 110(2):116-21. PubMed ID: 12116248
[TBL] [Abstract][Full Text] [Related]
26. A Nonsense Mutation in HOXD13 Gene from A Chinese Family with Non-Syndromic Synpolydactyly.
Guo X; Shi T; Lin M; Zhang Y
Tohoku J Exp Med; 2019 Oct; 249(2):93-100. PubMed ID: 31611522
[TBL] [Abstract][Full Text] [Related]
27. Synpolydactyly: clinical and molecular advances.
Malik S; Grzeschik KH
Clin Genet; 2008 Feb; 73(2):113-20. PubMed ID: 18177473
[TBL] [Abstract][Full Text] [Related]
28. A novel Hoxd13 mutation causes synpolydactyly and promotes osteoclast differentiation by regulating pSmad5/p65/c-Fos/Rank axis.
Zhang L; Fang Z; Cheng G; He M; Lin Y
Cell Death Dis; 2023 Feb; 14(2):145. PubMed ID: 36804539
[TBL] [Abstract][Full Text] [Related]
29. Limb malformations and the human HOX genes.
Goodman FR
Am J Med Genet; 2002 Oct; 112(3):256-65. PubMed ID: 12357469
[TBL] [Abstract][Full Text] [Related]
30. Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences.
Malik S; Girisha KM; Wajid M; Roy AK; Phadke SR; Haque S; Ahmad W; Koch MC; Grzeschik KH
BMC Med Genet; 2007 Dec; 8():78. PubMed ID: 18072967
[TBL] [Abstract][Full Text] [Related]
31. Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly.
Wang B; Li N; Geng J; Wang Z; Fu Q; Wang J; Xu Y
Congenit Anom (Kyoto); 2017 Jan; 57(1):4-7. PubMed ID: 27254532
[TBL] [Abstract][Full Text] [Related]
32. Synpolydactyly in mice with a targeted deficiency in the HoxD complex.
Zákány J; Duboule D
Nature; 1996 Nov; 384(6604):69-71. PubMed ID: 8900279
[TBL] [Abstract][Full Text] [Related]
33. Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.
Dai L; Liu D; Song M; Xu X; Xiong G; Yang K; Zhang K; Meng H; Guo H; Bai Y
PLoS One; 2014; 9(5):e96192. PubMed ID: 24789103
[TBL] [Abstract][Full Text] [Related]
34. Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor.
Blake J; Hu D; Cain JE; Rosenblum ND
Hum Mol Genet; 2016 Feb; 25(3):437-47. PubMed ID: 26604140
[TBL] [Abstract][Full Text] [Related]
35. A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?
Utsch B; Becker K; Brock D; Lentze MJ; Bidlingmaier F; Ludwig M
Hum Genet; 2002 May; 110(5):488-94. PubMed ID: 12073020
[TBL] [Abstract][Full Text] [Related]
36. [Synpolydactyly in a Chinese kindred: mutation detection, prenatal ultrasonographic and molecular diagnosis].
Jin H; Lin PF; Wang QM; Mao F; Cai Y; Gong YQ
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec; 28(6):601-5. PubMed ID: 22161087
[TBL] [Abstract][Full Text] [Related]
37. Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly.
Gong L; Wang B; Wang J; Yu H; Ma X; Yang J
Eur J Med Genet; 2011; 54(2):108-11. PubMed ID: 20974300
[TBL] [Abstract][Full Text] [Related]
38. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.
Muragaki Y; Mundlos S; Upton J; Olsen BR
Science; 1996 Apr; 272(5261):548-51. PubMed ID: 8614804
[TBL] [Abstract][Full Text] [Related]
39. An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations.
Kan SH; Johnson D; Giele H; Wilkie AO
Am J Med Genet A; 2003 Aug; 121A(1):69-74. PubMed ID: 12900906
[TBL] [Abstract][Full Text] [Related]
40. A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family.
Zaib T; Ji W; Saleem K; Nie G; Li C; Cao L; Xu B; Dong K; Yu H; Hao X; Xue Y; Si S; Jia X; Wu J; Zhang X; Guan R; Ji G; Bai J; Chen F; Liu Y; Sun W; Fu S
BMC Med Genet; 2019 Dec; 20(1):203. PubMed ID: 31870337
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]