304 related articles for article (PubMed ID: 8614804)
1. 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]
2. A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly.
Johnson KR; Sweet HO; Donahue LR; Ward-Bailey P; Bronson RT; Davisson MT
Hum Mol Genet; 1998 Jun; 7(6):1033-8. PubMed ID: 9580668
[TBL] [Abstract][Full Text] [Related]
3. [Genetic analysis of a Chinese pedigree with congenital synpolydactyly].
Qin W; Shu AL; Xing QH; Yang MS; Feng GY; He L
Yi Chuan Xue Bao; 2003 Oct; 30(10):973-7. PubMed ID: 14669516
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. [HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family].
Zhao XL; Meng JP; Sun M; Ao Y; Wu AH; Lo HY; Zhang X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Feb; 22(1):5-9. PubMed ID: 15696469
[TBL] [Abstract][Full Text] [Related]
6. Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion.
Horsnell K; Ali M; Malik S; Wilson L; Hall C; Debeer P; Crow Y
Eur J Med Genet; 2006; 49(5):396-401. PubMed ID: 16497573
[TBL] [Abstract][Full Text] [Related]
7. A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.
Ibrahim DM; Tayebi N; Knaus A; Stiege AC; Sahebzamani A; Hecht J; Mundlos S; Spielmann M
Am J Med Genet A; 2016 Mar; 170(3):615-21. PubMed ID: 26581570
[TBL] [Abstract][Full Text] [Related]
8. Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families.
Akarsu AN; Stoilov I; Yilmaz E; Sayli BS; Sarfarazi M
Hum Mol Genet; 1996 Jul; 5(7):945-52. PubMed ID: 8817328
[TBL] [Abstract][Full Text] [Related]
9. A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.
Kurban M; Wajid M; Petukhova L; Shimomura Y; Christiano AM
J Hum Genet; 2011 Oct; 56(10):701-6. PubMed ID: 21814222
[TBL] [Abstract][Full Text] [Related]
10. Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13.
Warren ST
Science; 1997 Jan; 275(5298):408-9. PubMed ID: 9005557
[No Abstract] [Full Text] [Related]
11. 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]
12. Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3'/4 synpolydactyly.
Debeer P; Schoenmakers EF; Thoelen R; Fryns JP; Van de Ven WJ
Cytogenet Cell Genet; 1998; 81(3-4):229-34. PubMed ID: 9730609
[TBL] [Abstract][Full Text] [Related]
13. Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.
Debeer P; Bacchelli C; Scambler PJ; De Smet L; Fryns JP; Goodman FR
J Med Genet; 2002 Nov; 39(11):852-6. PubMed ID: 12414828
[No Abstract] [Full Text] [Related]
14. A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?
Akarsu AN; Akhan O; Sayli BS; Sayli U; Baskaya G; Sarfarazi M
J Med Genet; 1995 Jun; 32(6):435-41. PubMed ID: 7666394
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
Zhao X; Sun M; Zhao J; Leyva JA; Zhu H; Yang W; Zeng X; Ao Y; Liu Q; Liu G; Lo WH; Jabs EW; Amzel LM; Shan X; Zhang X
Am J Hum Genet; 2007 Feb; 80(2):361-71. PubMed ID: 17236141
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning.
Shi X; Ji C; Cao L; Wu Y; Shang Y; Wang W; Luo Y
Gene; 2013 Dec; 532(2):297-301. PubMed ID: 24055421
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]