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PUBMED FOR HANDHELDS

Journal Abstract Search


149 related items for PubMed ID: 37829154

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  • 5. A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1.
    Raza SI, Nasser Dar R, Shah AA, Ahmad W.
    Ann Hum Genet; 2015 Mar; 79(2):92-8. PubMed ID: 25529316
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  • 7. 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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  • 8. Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1).
    Jelani M, Chishti MS, Ahmad W.
    J Hum Genet; 2011 May; 56(5):352-7. PubMed ID: 21346770
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  • 11. Like Father, Like Daughter - Ectodermal Dysplasia-Syndactyly Syndrome: A Case Report.
    Jith G, Suba S, Giri SK.
    J Hand Surg Asian Pac Vol; 2024 Jun; 29(3):248-251. PubMed ID: 38726487
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  • 13. Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3.
    Tariq M, Khan MN, Ahmad W.
    Hum Genet; 2009 May; 125(4):421-9. PubMed ID: 19221800
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  • 15. Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings.
    Mohammad A.
    Dermatol Online J; 2015 Jan 15; 21(1):. PubMed ID: 25612123
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  • 16. 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 15; 134(8):2146-2153. PubMed ID: 24577405
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  • 17. A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families.
    Sadia, Foo JN, Khor CC, Jelani M, Ali G.
    J Gene Med; 2019 Sep 15; 21(9):e3113. PubMed ID: 31310406
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  • 18. Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
    Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M, McGrath JA.
    Am J Hum Genet; 2014 Sep 04; 95(3):308-14. PubMed ID: 25152456
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  • 19. Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome.
    Gripp KW, Ennis S, Napoli J.
    Am J Med Genet A; 2013 May 04; 161A(5):1058-63. PubMed ID: 23610050
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  • 20. Ectrodactyly, ectodermal dysplasia, and cleft lip syndrome. Case report.
    Seno H, Yanai A, Sugino H, Inoue M, Takei T, Miyake I.
    Scand J Plast Reconstr Surg Hand Surg; 1996 Sep 04; 30(3):227-30. PubMed ID: 8885020
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