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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

177 related items for PubMed ID: 18546297

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  • 30. 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; 45(10):1359-1366. PubMed ID: 27957444
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  • 31. Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
    Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C.
    Clin Genet; 2010 Mar; 77(3):258-65. PubMed ID: 19817772
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  • 33. Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.
    Ferrante MI, Zullo A, Barra A, Bimonte S, Messaddeq N, Studer M, Dollé P, Franco B.
    Nat Genet; 2006 Jan; 38(1):112-7. PubMed ID: 16311594
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  • 35. The unclassified variant: c.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype.
    Al-Qattan MM, Al Balwi MA.
    Gene; 2013 Sep 10; 526(2):471-3. PubMed ID: 23732295
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  • 36. Multiple recurrent and de novo odontogenic keratocysts associated with oral-facial-digital syndrome.
    Lindeboom JA, Kroon FH, de Vires J, van den Akker HP.
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2003 Apr 10; 95(4):458-62. PubMed ID: 12686930
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  • 38. Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene.
    Thauvin-Robinet C, Callier P, Franco B, Zuffardi O, Payet M, Aral B, Gigot N, Donzel A, Mosca-Boidron AL, Masurel-Paulet A, Huet F, Teyssier JR, Mugneret F, Faivre L.
    Am J Med Genet A; 2009 Aug 10; 149A(8):1846-9. PubMed ID: 19610098
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