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Journal Abstract Search

138 related items for PubMed ID: 15221448

  • 1. 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
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  • 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
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  • 6. 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
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  • 7. 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
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  • 8. 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 15; 43(1):54-61. PubMed ID: 16397067
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  • 9. 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 15; 68(3):569-76. PubMed ID: 11179005
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  • 10. 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 15; 6(7):1163-7. PubMed ID: 9215688
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  • 11. Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
    Thauvin-Robinet C, Franco B, Saugier-Veber P, Aral B, Gigot N, Donzel A, Van Maldergem L, Bieth E, Layet V, Mathieu M, Teebi A, Lespinasse J, Callier P, Mugneret F, Masurel-Paulet A, Gautier E, Huet F, Teyssier JR, Tosi M, Frébourg T, Faivre L.
    Hum Mutat; 2009 Feb 15; 30(2):E320-9. PubMed ID: 19023858
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  • 13. Indian child with novel variant in OFD1 gene.
    Panigrahi I, Ahuja C, Chaudhry C.
    Am J Med Genet A; 2020 Oct 15; 182(10):2236-2238. PubMed ID: 32677760
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  • 15. Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families.
    Faily S, Perveen R, Chandler K, Clayton-Smith J.
    Cleft Palate Craniofac J; 2020 May 15; 57(5):606-615. PubMed ID: 32064904
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  • 17. A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.
    Dehghan Tezerjani M, Maroofian R, Vahidi Mehrjardi MY, Chioza BA, Zamaninejad S, Kalantar SM, Nori-Shadkam M, Ghadimi H, Baple EL, Crosby AH, Dehghani M.
    Iran J Public Health; 2016 Oct 15; 45(10):1359-1366. PubMed ID: 27957444
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  • 18. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.
    Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B, Oral-Facial-Digital Type I (OFDI) Collaborative Group.
    Hum Mutat; 2008 Oct 15; 29(10):1237-46. PubMed ID: 18546297
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  • 19. [Oro-facial-digital syndrome type I: phenotypic variable expression].
    Boldrini MP, Giovo ME, Bogado C.
    Arch Argent Pediatr; 2014 Dec 15; 112(6):e242-6. PubMed ID: 25362921
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