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Journal Abstract Search

218 related items for PubMed ID: 28371265

  • 1. 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
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  • 3. Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review.
    Gangaram B, Devine WP, Slavotinek A.
    Eur J Med Genet; 2022 Jun; 65(6):104496. PubMed ID: 35398350
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  • 4. 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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  • 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. 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; 57(5):606-615. PubMed ID: 32064904
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  • 8. 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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  • 9. Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene.
    Ferrante MI, Romio L, Castro S, Collins JE, Goulding DA, Stemple DL, Woolf AS, Wilson SW.
    Hum Mol Genet; 2009 Jan 15; 18(2):289-303. PubMed ID: 18971206
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  • 12. The ciliogenic protein Oral-Facial-Digital 1 regulates the neuronal differentiation of embryonic stem cells.
    Hunkapiller J, Singla V, Seol A, Reiter JF.
    Stem Cells Dev; 2011 May 15; 20(5):831-41. PubMed ID: 20873986
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  • 15. 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 15; 34(1):237-47. PubMed ID: 23033313
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  • 16. A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia.
    Aljeaid D, Lombardo RC, Witte DP, Hopkin RJ.
    Am J Med Genet A; 2019 Jun 15; 179(6):1010-1014. PubMed ID: 30895720
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  • 17. [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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  • 18. Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome.
    Schock EN, Chang CF, Struve JN, Chang YT, Chang J, Delany ME, Brugmann SA.
    Dis Model Mech; 2015 Aug 01; 8(8):855-66. PubMed ID: 26044959
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  • 19. In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.
    Alby C, Boutaud L, Bonnière M, Collardeau-Frachon S, Guibaud L, Lopez E, Bruel AL, Aral B, Sonigo P, Roth P, Vibert-Guigue C, Castaigne V, Carbonne B, Joyé N, Faivre L, Cordier MP, Bernabe Gelot A, Clementi M, Mammi I, Vekemans M, Razavi F, Gonzales M, Thauvin-Robinet C, Attié-Bitach T.
    Birth Defects Res; 2018 Mar 01; 110(4):382-389. PubMed ID: 29193896
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