191 related articles for article (PubMed ID: 11778160)
1. A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.
Goodman FR; Majewski F; Collins AL; Scambler PJ
Am J Hum Genet; 2002 Feb; 70(2):547-55. PubMed ID: 11778160
[TBL] [Abstract][Full Text] [Related]
2. Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster.
Del Campo M; Jones MC; Veraksa AN; Curry CJ; Jones KL; Mascarello JT; Ali-Kahn-Catts Z; Drumheller T; McGinnis W
Am J Hum Genet; 1999 Jul; 65(1):104-10. PubMed ID: 10364522
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.
Dimitrov B; Balikova I; de Ravel T; Van Esch H; De Smedt M; Baten E; Vermeesch JR; Bradinova I; Simeonov E; Devriendt K; Fryns JP; Debeer P
J Med Genet; 2011 Feb; 48(2):98-104. PubMed ID: 21068127
[TBL] [Abstract][Full Text] [Related]
5. A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype.
Fantini S; Vaccari G; Brison N; Debeer P; Tylzanowski P; Zappavigna V
Hum Mol Genet; 2009 Mar; 18(5):847-60. PubMed ID: 19060004
[TBL] [Abstract][Full Text] [Related]
6. A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with clinodactyly.
Tsai LP; Liao HM; Chen YJ; Fang JS; Chen CH
Clin Genet; 2009 May; 75(5):449-56. PubMed ID: 19459884
[TBL] [Abstract][Full Text] [Related]
7. Novel mutations of the HOXD13 gene in hand and foot malformations.
Nakano K; Sakai N; Yamazaki Y; Watanabe H; Yamada N; Sezaki K; Susami T; Tokunaga K; Takato T; Uchinuma E
Int Surg; 2007; 92(5):287-95. PubMed ID: 18399101
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function.
Caronia G; Goodman FR; McKeown CM; Scambler PJ; Zappavigna V
Development; 2003 Apr; 130(8):1701-12. PubMed ID: 12620993
[TBL] [Abstract][Full Text] [Related]
10. Breakpoints around the HOXD cluster result in various limb malformations.
Dlugaszewska B; Silahtaroglu A; Menzel C; Kübart S; Cohen M; Mundlos S; Tümer Z; Kjaer K; Friedrich U; Ropers HH; Tommerup N; Neitzel H; Kalscheuer VM
J Med Genet; 2006 Feb; 43(2):111-8. PubMed ID: 15980115
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4.
Suzuki K; Haraguchi R; Ogata T; Barbieri O; Alegria O; Vieux-Rochas M; Nakagata N; Ito M; Mills AA; Kurita T; Levi G; Yamada G
Eur J Hum Genet; 2008 Jan; 16(1):36-44. PubMed ID: 17878916
[TBL] [Abstract][Full Text] [Related]
14. [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]
15. Mesomelic dysplasias associated with the HOXD locus are caused by regulatory reallocations.
Bolt CC; Lopez-Delisle L; Mascrez B; Duboule D
Nat Commun; 2021 Aug; 12(1):5013. PubMed ID: 34408147
[TBL] [Abstract][Full Text] [Related]
16. Molecular Genetic Characterization of a Chinese Family with Severe Split Hand/Foot Malformation.
Cao L; Yang W; Wang S; Chen C; Zhang X; Luo Y
Genet Test Mol Biomarkers; 2017 Jun; 21(6):357-362. PubMed ID: 28422522
[TBL] [Abstract][Full Text] [Related]
17. Split-hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India.
Langeh N; Ansari MT; Kabra M; Gupta N
Am J Med Genet A; 2024 May; 194(5):e63520. PubMed ID: 38168117
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene.
Ianakiev P; van Baren MJ ; Daly MJ; Toledo SP; Cavalcanti MG; Neto JC; Silveira EL; Freire-Maia A; Heutink P; Kilpatrick MW; Tsipouras P
Am J Hum Genet; 2001 Jan; 68(1):38-45. PubMed ID: 11090342
[TBL] [Abstract][Full Text] [Related]
20. Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects.
Lo Iacono N; Mantero S; Chiarelli A; Garcia E; Mills AA; Morasso MI; Costanzo A; Levi G; Guerrini L; Merlo GR
Development; 2008 Apr; 135(7):1377-88. PubMed ID: 18326838
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]