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Journal Abstract Search

107 related items for PubMed ID: 10051172

  • 1. Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85.
    Gedeon AK, Oley C, Nelson J, Turner G, Mulley JC.
    Am J Med Genet; 1999 Feb 12; 82(4):352-4. PubMed ID: 10051172
    [No Abstract] [Full Text] [Related]

  • 2. 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 12; 6(7):1163-7. PubMed ID: 9215688
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  • 3. 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 12; 17(6):610-4. PubMed ID: 21729220
    [Abstract] [Full Text] [Related]

  • 4. Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1.
    Shimojima K, Shimada S, Sugawara M, Yoshikawa N, Niijima S, Urao M, Yamamoto T.
    Congenit Anom (Kyoto); 2013 Dec 12; 53(4):155-9. PubMed ID: 24712474
    [Abstract] [Full Text] [Related]

  • 5. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.
    Thauvin-Robinet C, Cossée M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, Bieth E, Layet V, Parent P, David A, Goldenberg A, Mortier G, Héron D, Sagot P, Bouvier AM, Huet F, Cusin V, Donzel A, Devys D, Teyssier JR, Faivre L.
    J Med Genet; 2006 Jan 12; 43(1):54-61. PubMed ID: 16397067
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  • 7. A contribution to the genetics of oral-facial-digital (OFD) syndrome.
    Chaurasia BD, Goswami HK.
    Jinrui Idengaku Zasshi; 1973 Dec 12; 18(3):294-9. PubMed ID: 4800018
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  • 9. [Oto-palato-digital type I syndrome in five generations. Relationship to the type II form].
    Le Marec B, Odent S, Bracq E, Bulard MB, Bourdinière J, Babut JM.
    Ann Genet; 1988 Dec 12; 31(3):155-61. PubMed ID: 3265608
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  • 10. [Orofaciodigital syndrome type I in a mother and daughter].
    Guerrero Vázquez J, Cazenave Bernal A, de Paz Aparicio P, Luengo Casasola JL, Garcés Ramos A, López Vázquez JL, Hoyos Madrid JJ.
    An Esp Pediatr; 1988 Jan 12; 28(1):59-62. PubMed ID: 3279888
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Localization of the mouse nob (no b-wave) gene to the centromeric region of the X chromosome.
    Candille SI, Pardue MT, McCall MA, Peachey NS, Gregg RG.
    Invest Ophthalmol Vis Sci; 1999 Oct 01; 40(11):2748-51. PubMed ID: 10509675
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  • 15. [Pathological variant of OFD1 gene identified in a pedigree affected with oral-facial-digital syndrome type 1].
    Cao P, Zhu X, Gu L, Li J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jun 10; 39(6):611-615. PubMed ID: 35773765
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  • 16. [Oral-facial-digital syndrome].
    Kuroki Y.
    Ryoikibetsu Shokogun Shirizu; 2000 Jun 10; (30 Pt 5):277-8. PubMed ID: 11057227
    [No Abstract] [Full Text] [Related]

  • 17. 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 10; 115(2):97-103. PubMed ID: 15221448
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  • 18. Regional localization of a gene for nonspecific XLMR to Xp11.3-p11. 23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1.
    Claes S, Volcke P, Devriendt K, Holvoet M, Raeymaekers P, Cassiman JJ, Fryns JP.
    Am J Med Genet; 1999 Jul 30; 85(3):283-7. PubMed ID: 10398244
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  • 19. Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.
    Bouman A, Alders M, Oostra RJ, van Leeuwen E, Thuijs N, van der Kevie-Kersemaekers AM, van Maarle M.
    Am J Med Genet A; 2017 May 30; 173(5):1383-1389. PubMed ID: 28371265
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  • 20. 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 30; 64(1):3-9. PubMed ID: 30401917
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