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Journal Abstract Search

177 related items for PubMed ID: 18546297

  • 1. 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; 29(10):1237-46. PubMed ID: 18546297
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  • 2. 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
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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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  • 7. [Oral-facial-digital syndrome type I. A case report].
    Leonardi R, Gallone M, Sorge G, Greco F.
    Minerva Stomatol; 2004 Apr; 53(4):185-9. PubMed ID: 15107776
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  • 8. 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
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  • 10. Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes.
    Strong A, Simone L, Krentz A, Vaccaro C, Watson D, Ron H, Kalish JM, Pedro HF, Zackai EH, Hakonarson H.
    Am J Med Genet A; 2021 Aug; 185(8):2409-2416. PubMed ID: 34132027
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  • 11. 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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  • 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
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  • 13. 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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  • 16. 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
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  • 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; 115(2):97-103. PubMed ID: 15221448
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  • 18. TCTN3 mutations cause Mohr-Majewski syndrome.
    Thomas S, Legendre M, Saunier S, Bessières B, Alby C, Bonnière M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, Ville Y, Bole-Feysot C, Nitschke P, Lyonnet S, Munnich A, Johnson CA, Encha-Razavi F, Cormier-Daire V, Thauvin-Robinet C, Vekemans M, Attié-Bitach T.
    Am J Hum Genet; 2012 Aug 10; 91(2):372-8. PubMed ID: 22883145
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