36 related articles for article (PubMed ID: 17915261)
1. 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]
2. 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]
3. Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24.32: a case report.
Akimova D; Markova T; Ampleeva M; Skoblov M
Front Genet; 2023; 14():1303807. PubMed ID: 38250576
[TBL] [Abstract][Full Text] [Related]
4. Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model.
Innis JW; Mortlock D; Chen Z; Ludwig M; Williams ME; Williams TM; Doyle CD; Shao Z; Glynn M; Mikulic D; Lehmann K; Mundlos S; Utsch B
Hum Mol Genet; 2004 Nov; 13(22):2841-51. PubMed ID: 15385446
[TBL] [Abstract][Full Text] [Related]
5. TAp63γ influences mouse cartilage development.
Wang Q; Li N; Chen F; Hei R; Gu J; Lu Y; Sun L; Zheng Q
Aging (Albany NY); 2020 May; 12(9):8669-8679. PubMed ID: 32392534
[TBL] [Abstract][Full Text] [Related]
6. Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene.
Wei J; Xue Y; Wu L; Ma J; Yi X; Zhang J; Lu B; Li C; Shi D; Shi S; Feng X; Cai T
PLoS One; 2012; 7(5):e35337. PubMed ID: 22574117
[TBL] [Abstract][Full Text] [Related]
7. The p63 gene in EEC and other syndromes.
Brunner HG; Hamel BC; Van Bokhoven H
J Med Genet; 2002 Jun; 39(6):377-81. PubMed ID: 12070241
[TBL] [Abstract][Full Text] [Related]
8. Genetic regulatory pathways of split-hand/foot malformation.
Kantaputra PN; Carlson BM
Clin Genet; 2019 Jan; 95(1):132-139. PubMed ID: 30101460
[TBL] [Abstract][Full Text] [Related]
9. A novel mutation of p63 in a Chinese family with inherited syndactyly and adactylism.
Luo T; Yu W; Yuan Z; Deng Y; Zhao Y; Yuan W; Xiao J; Wang Y; Luo N; Mo X; Li Y; Liu M; Wu X
Mutat Res; 2008 Jan; 637(1-2):182-9. PubMed ID: 17915261
[TBL] [Abstract][Full Text] [Related]
10. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
Ianakiev P; Kilpatrick MW; Toudjarska I; Basel D; Beighton P; Tsipouras P
Am J Hum Genet; 2000 Jul; 67(1):59-66. PubMed ID: 10839977
[TBL] [Abstract][Full Text] [Related]
11. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
van Bokhoven H; Hamel BC; Bamshad M; Sangiorgi E; Gurrieri F; Duijf PH; Vanmolkot KR; van Beusekom E; van Beersum SE; Celli J; Merkx GF; Tenconi R; Fryns JP; Verloes A; Newbury-Ecob RA; Raas-Rotschild A; Majewski F; Beemer FA; Janecke A; Chitayat D; Crisponi G; Kayserili H; Yates JR; Neri G; Brunner HG
Am J Hum Genet; 2001 Sep; 69(3):481-92. PubMed ID: 11462173
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
Celli J; Duijf P; Hamel BC; Bamshad M; Kramer B; Smits AP; Newbury-Ecob R; Hennekam RC; Van Buggenhout G; van Haeringen A; Woods CG; van Essen AJ; de Waal R; Vriend G; Haber DA; Yang A; McKeon F; Brunner HG; van Bokhoven H
Cell; 1999 Oct; 99(2):143-53. PubMed ID: 10535733
[TBL] [Abstract][Full Text] [Related]
14. Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM).
Kang YS; Cheong HM; Moon Y; Lee IB; Kim SM; Kim HS; Jun SY; Jung SK; Kim JS; Choi JH; Cho HE; Son JS; Min NY; Lee KH
Mol Cells; 2004 Jun; 17(3):397-403. PubMed ID: 15232212
[TBL] [Abstract][Full Text] [Related]
15.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
16.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
17.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
18.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]