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Journal Abstract Search

123 related items for PubMed ID: 11950863

  • 1. Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.
    Rakkolainen A, Ala-Mello S, Kristo P, Orpana A, Järvelä I.
    J Med Genet; 2002 Apr; 39(4):292-6. PubMed ID: 11950863
    [No Abstract] [Full Text] [Related]

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

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Indian child with novel variant in OFD1 gene.
    Panigrahi I, Ahuja C, Chaudhry C.
    Am J Med Genet A; 2020 Oct; 182(10):2236-2238. PubMed ID: 32677760
    [Abstract] [Full Text] [Related]

  • 5. 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; 53(4):155-9. PubMed ID: 24712474
    [Abstract] [Full Text] [Related]

  • 6. 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; 43(1):54-61. PubMed ID: 16397067
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.
    Field M, Scheffer IE, Gill D, Wilson M, Christie L, Shaw M, Gardner A, Glubb G, Hobson L, Corbett M, Friend K, Willis-Owen S, Gecz J.
    Eur J Hum Genet; 2012 Jul; 20(7):806-9. PubMed ID: 22353940
    [Abstract] [Full Text] [Related]

  • 10. Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis.
    Orstavik KH, Tangsrud SE, Nordshus T, Finnanger AM, Hellum C, Gjessing E.
    J Med Genet; 1992 Nov; 29(11):827-30. PubMed ID: 1453437
    [Abstract] [Full Text] [Related]

  • 11. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
    Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Pérez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Mégarbané A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière JB, Faivre L, Thauvin-Robinet C.
    J Med Genet; 2017 Jun; 54(6):371-380. PubMed ID: 28289185
    [Abstract] [Full Text] [Related]

  • 12. 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; 173(5):1383-1389. PubMed ID: 28371265
    [Abstract] [Full Text] [Related]

  • 13. 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; 34(1):237-47. PubMed ID: 23033313
    [Abstract] [Full Text] [Related]

  • 14. 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; 115(2):97-103. PubMed ID: 15221448
    [Abstract] [Full Text] [Related]

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  • 16. Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.
    Donnai D, Kerzin-Storrar L, Harris R.
    J Med Genet; 1987 Feb; 24(2):84-7. PubMed ID: 3560172
    [Abstract] [Full Text] [Related]

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  • 18. An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns.
    Iijima T, Hayami N, Takaichi K, Morisada N, Nozu K, Iijima K, Sawa N, Hoshino J, Ubara Y.
    Intern Med; 2019 Oct 15; 58(20):2989-2992. PubMed ID: 31243241
    [Abstract] [Full Text] [Related]

  • 19. [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 15; 28(1):59-62. PubMed ID: 3279888
    [Abstract] [Full Text] [Related]

  • 20. Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease.
    Iijima T, Hoshino J, Mise K, Sumida K, Suwabe T, Hayami N, Ueno T, Takaichi K, Fujii T, Ohashi K, Morisada N, Iijima K, Ubara Y.
    Hum Pathol; 2016 Sep 15; 55():24-9. PubMed ID: 27131853
    [Abstract] [Full Text] [Related]

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