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Journal Abstract Search

509 related items for PubMed ID: 25913853

  • 1. Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.
    Yoshida K, Hayashi R, Fujita H, Kubota M, Kondo M, Shimomura Y, Niizeki H.
    J Dermatol; 2015 Jul; 42(7):715-9. PubMed ID: 25913853
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  • 2. Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
    Brancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, Boudghene-Stambouli O, Agolini E, Bernardini L, Bellacchio E, Iannicelli M, Rossi A, Dib-Lachachi A, Stuppia L, Palka G, Mundlos S, Stricker S, Kornak U, Zambruno G, Dallapiccola B.
    Am J Hum Genet; 2010 Aug 13; 87(2):265-73. PubMed ID: 20691405
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  • 3. Nectinopathies: an emerging group of ectodermal dysplasia syndromes.
    Brancati F, Agolini E, Fortugno P.
    G Ital Dermatol Venereol; 2013 Feb 13; 148(1):59-64. PubMed ID: 23407077
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  • 6. Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome.
    Rodini ES, Richieri-Costa A.
    Am J Med Genet; 1990 Aug 13; 36(4):473-6. PubMed ID: 2167611
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  • 10. A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.
    Hajra B, Abdullah, Bibi N, Syed F, Ullah A, Ahmad W, Umm-E-Kalsoom.
    An Bras Dermatol; 2023 Aug 13; 98(5):580-586. PubMed ID: 37183149
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  • 12. Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review.
    Rotunno R, Diociaiuti A, Dentici ML, Rinelli M, Callea M, Retrosi C, Zambruno G, Bellacchio E, El Hachem M.
    Genes (Basel); 2021 May 17; 12(5):. PubMed ID: 34067522
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  • 13. Cleft lip/palate-oligodontia-syndactyly-hair alterations, a new syndrome: review of the conditions combining ectodermal dysplasia and cleft lip/palate.
    Martínez B, Monasterio L, Pinheiro M, Freire-Maia N.
    Am J Med Genet; 1987 May 17; 27(1):23-31. PubMed ID: 3037904
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  • 17. A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
    Ali G, Sadia S, Ain-Ul-Batool S, Azeem Z, Awan NB, Kazmi SAR, Ur-Rehman Z, Anjum Z, Ur-Rehman F, Wali A, Khan K, Zaman N, Ayub M, Sajid M, Hassan N.
    Genet Res (Camb); 2023 May 17; 2023():9999660. PubMed ID: 37829154
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  • 19. Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.
    Fortugno P, Josselin E, Tsiakas K, Agolini E, Cestra G, Teson M, Santer R, Castiglia D, Novelli G, Dallapiccola B, Kurth I, Lopez M, Zambruno G, Brancati F.
    J Invest Dermatol; 2014 Aug 17; 134(8):2146-2153. PubMed ID: 24577405
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  • 20. Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome.
    Greene SL, Michels VV, Doyle JA.
    Am J Med Genet; 1987 May 17; 27(1):207-12. PubMed ID: 3605196
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