Literature DB >> 12525544

P63 mutations are not a major cause of non-syndromic split hand/foot malformation.

X J de Mollerat, D B Everman, C T Morgan, K B Clarkson, R C Rogers, R S Colby, A S Aylsworth, J M Graham, R E Stevenson, C E Schwartz.   

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Year:  2003        PMID： 12525544      PMCID： PMC1735259          DOI： 10.1136/jmg.40.1.55

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

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

Authors:  Christian Babbs; Raoul Heller; David B Everman; Mark Crocker; Stephen R F Twigg; Charles E Schwartz; Henk Giele; Andrew O M Wilkie
Journal:  Hum Genet       Date:  2007-06-14       Impact factor: 4.132

2.  Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.

Authors:  Tonia C Carter; Robert J Sicko; Denise M Kay; Marilyn L Browne; Paul A Romitti; Zoё L Edmunds; Aiyi Liu; Ruzong Fan; Charlotte M Druschel; Michele Caggana; Lawrence C Brody; James L Mills
Journal:  J Hum Genet       Date:  2017-05-25       Impact factor: 3.172

3.  Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.

Authors:  Ravinesh A Kumar; David B Everman; Chad T Morgan; Anne Slavotinek; Charles E Schwartz; Elizabeth M Simpson
Journal:  BMC Med Genet       Date:  2007-07-26       Impact factor: 2.103

Review 4.  Split-hand/foot malformation - molecular cause and implications in genetic counseling.

Authors:  Anna Sowińska-Seidler; Magdalena Socha; Aleksander Jamsheer
Journal:  J Appl Genet       Date:  2013-10-27       Impact factor: 3.240
  4 in total

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