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Results: 1 to 20 of 545

1.

Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients.

Elliott AM, Evans JA.

Am J Med Genet A. 2006 Jul 1;140(13):1419-27.

PMID:
16688749
[PubMed - indexed for MEDLINE]
2.

Discrepancies in upper and lower limb patterning in split hand foot malformation.

Elliott AM, Reed MH, Roscioli T, Evans JA.

Clin Genet. 2005 Nov;68(5):408-23.

PMID:
16207208
[PubMed - indexed for MEDLINE]
3.

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. Epub 2001 Jul 17.

PMID:
11462173
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Pathogenesis of split-hand/split-foot malformation.

Duijf PH, van Bokhoven H, Brunner HG.

Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R51-60. Review.

PMID:
12668597
[PubMed - indexed for MEDLINE]
Free Article
5.

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. Epub 2000 Jun 5.

PMID:
10839977
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly.

Berdón-Zapata V, Granillo-Alvarez M, Valdés-Flores M, García-Ortiz JE, Kofman-Alfaro S, Zenteno JC.

J Orthop Res. 2004 Jan;22(1):1-5.

PMID:
14656652
[PubMed - indexed for MEDLINE]
7.

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.

Everman DB, Morgan CT, Lyle R, Laughridge ME, Bamshad MJ, Clarkson KB, Colby R, Gurrieri F, Innes AM, Roberson J, Schrander-Stumpel C, van Bokhoven H, Antonarakis SE, Schwartz CE.

Am J Med Genet A. 2006 Jul 1;140(13):1375-83.

PMID:
16761290
[PubMed - indexed for MEDLINE]
8.

Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.

Clements SE, Techanukul T, Coman D, Mellerio JE, McGrath JA.

Br J Dermatol. 2010 Jan;162(1):201-7. doi: 10.1111/j.1365-2133.2009.09496.x. Epub 2009 Nov 9.

PMID:
19903181
[PubMed - indexed for MEDLINE]
9.

The p63 gene in EEC and other syndromes.

Brunner HG, Hamel BC, Van Bokhoven H.

J Med Genet. 2002 Jun;39(6):377-81. Review.

PMID:
12070241
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Clinical and epidemiological findings in patients with central ray deficiency: split hand foot malformation (SHFM) in Manitoba, Canada.

Elliott AM, Reed MH, Chudley AE, Chodirker BN, Evans JA.

Am J Med Genet A. 2006 Jul 1;140(13):1428-39.

PMID:
16673359
[PubMed - indexed for MEDLINE]
11.

A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.

Khan S, Basit S, Zimri FK, Ali N, Ali G, Ansar M, Ahmad W.

Clin Genet. 2012 Jul;82(1):48-55. doi: 10.1111/j.1399-0004.2011.01698.x. Epub 2011 May 27.

PMID:
21554266
[PubMed - indexed for MEDLINE]
12.

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.

Babbs C, Heller R, Everman DB, Crocker M, Twigg SR, Schwartz CE, Giele H, Wilkie AO.

Hum Genet. 2007 Sep;122(2):191-9. Epub 2007 Jun 14.

PMID:
17569090
[PubMed - indexed for MEDLINE]
13.

The association of split hand foot malformation (SHFM) and congenital heart defects.

Elliott AM, Evans JA.

Birth Defects Res A Clin Mol Teratol. 2008 Jun;82(6):425-34. doi: 10.1002/bdra.20452.

PMID:
18383509
[PubMed - indexed for MEDLINE]
14.

Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21.

Tackels-Horne D, Toburen A, Sangiorgi E, Gurrieri F, de Mollerat X, Fischetto R, Causio F, Clarkson K, Stevenson RE, Schwartz CE.

Clin Genet. 2001 Jan;59(1):28-36.

PMID:
11168022
[PubMed - indexed for MEDLINE]
15.

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 30;17(3):397-403.

PMID:
15232212
[PubMed - indexed for MEDLINE]
Free Article
16.

Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation.

Ugur SA, Tolun A.

Hum Mol Genet. 2008 Sep 1;17(17):2644-53. doi: 10.1093/hmg/ddn164. Epub 2008 May 30.

PMID:
18515319
[PubMed - indexed for MEDLINE]
Free Article
17.

A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.

Sorasio L, Biamino E, Garelli E, Ferrero GB, Silengo MC.

Clin Exp Dermatol. 2009 Dec;34(8):e726-8. doi: 10.1111/j.1365-2230.2009.03451.x. Epub 2009 Jul 29.

PMID:
19663851
[PubMed - indexed for MEDLINE]
18.

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. doi: 10.1242/dev.011759.

PMID:
18326838
[PubMed - indexed for MEDLINE]
Free Article
19.

Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis.

Naveed M, Al-Ali MT, Murthy SK, Al-Hajali S, Al-Khaja N, Deutsch S, Bottani A, Antonarakis SE, Nath SK, Radhakrishna U.

Am J Med Genet A. 2006 Jul 1;140(13):1440-6.

PMID:
16688753
[PubMed - indexed for MEDLINE]
20.

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 1;637(1-2):182-9. Epub 2007 Aug 26.

PMID:
17915261
[PubMed - indexed for MEDLINE]

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