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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

230 related items for PubMed ID: 9973291

  • 1. Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.
    van Bokhoven H, Jung M, Smits AP, van Beersum S, Rüschendorf F, van Steensel M, Veenstra M, Tuerlings JH, Mariman EC, Brunner HG, Wienker TF, Reis A, Ropers HH, Hamel BC.
    Am J Hum Genet; 1999 Feb; 64(2):538-46. PubMed ID: 9973291
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  • 2. ADULT syndrome allelic to limb mammary syndrome (LMS)?
    Propping P, Friedl W, Wienker TF, Uhlhaas S, Zerres K.
    Am J Med Genet; 2000 Jan 17; 90(2):179-82. PubMed ID: 10607963
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  • 5. 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 01; 140(13):1440-6. PubMed ID: 16688753
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  • 6. 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 01; 67(1):59-66. PubMed ID: 10839977
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  • 7. 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 01; 59(1):28-36. PubMed ID: 11168022
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  • 13. A second autosomal split hand/split foot locus maps to chromosome 10q24-q25.
    Nunes ME, Schutt G, Kapur RP, Luthardt F, Kukolich M, Byers P, Evans JP.
    Hum Mol Genet; 1995 Nov 01; 4(11):2165-70. PubMed ID: 8589697
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  • 15. The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.
    Roscioli T, Taylor PJ, Bohlken A, Donald JA, Masel J, Glass IA, Buckley MF.
    Am J Med Genet A; 2004 Jan 15; 124A(2):136-41. PubMed ID: 14699611
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  • 19. Ocular manifestations in a father and son with EEC syndrome.
    Käsmann B, Ruprecht KW.
    Graefes Arch Clin Exp Ophthalmol; 1997 Aug 15; 235(8):512-6. PubMed ID: 9285221
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  • 20. 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 15; 162(1):201-7. PubMed ID: 19903181
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