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Journal Abstract Search

181 related items for PubMed ID: 9215688

  • 1. The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.
    Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM.
    Hum Mol Genet; 1997 Jul; 6(7):1163-7. PubMed ID: 9215688
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  • 2. Identification of the gene for oral-facial-digital type I syndrome.
    Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, Franco B.
    Am J Hum Genet; 2001 Mar; 68(3):569-76. PubMed ID: 11179005
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  • 5. Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.
    Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N.
    Clin Genet; 2013 Feb; 83(2):135-44. PubMed ID: 22548404
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  • 6. Clinical spectrum of male patients with OFD1 mutations.
    Sakakibara N, Morisada N, Nozu K, Nagatani K, Ohta T, Shimizu J, Wada T, Shima Y, Yamamura T, Minamikawa S, Fujimura J, Horinouchi T, Nagano C, Shono A, Ye MJ, Nozu Y, Nakanishi K, Iijima K.
    J Hum Genet; 2019 Jan; 64(1):3-9. PubMed ID: 30401917
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  • 9. OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.
    Romio L, Wright V, Price K, Winyard PJ, Donnai D, Porteous ME, Franco B, Giorgio G, Malcolm S, Woolf AS, Feather SA.
    J Am Soc Nephrol; 2003 Mar; 14(3):680-9. PubMed ID: 12595504
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  • 10. Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification.
    Nowaczyk MJ, Zeesman S, Whelan DT, Wright V, Feather SA.
    Am J Med Genet A; 2003 Dec 01; 123A(2):179-82. PubMed ID: 14598343
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  • 11. Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.
    Morisawa T, Yagi M, Surono A, Yokoyama N, Ohmori M, Terashi H, Matsuo M.
    Hum Genet; 2004 Jul 01; 115(2):97-103. PubMed ID: 15221448
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  • 14. A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1.
    Diz P, Alvarez-Iglesias V, Feijoo JF, Limeres J, Seoane J, Tomás I, Carracedo A.
    Oral Dis; 2011 Sep 01; 17(6):610-4. PubMed ID: 21729220
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  • 15. Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region.
    Toutain A, Ronce N, Dessay B, Robb L, Francannet C, Le Merrer M, Briard ML, Kaplan J, Moraine C.
    Hum Genet; 1997 Feb 01; 99(2):256-61. PubMed ID: 9048931
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  • 16. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
    Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ.
    Hum Mutat; 2013 Jan 01; 34(1):237-47. PubMed ID: 23033313
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  • 19. Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1.
    Bruyere H, Lewis S, Wood S, MacLeod PJ, Langlois S.
    Clin Genet; 1999 Mar 01; 55(3):173-81. PubMed ID: 10334471
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