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150 related items for PubMed ID: 20461149

  • 1. Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.
    Al-Dosari MS, Almazyad M, Al-Ebdi L, Mohamed JY, Al-Dahmash S, Al-Dhibi H, Al-Kahtani E, Al-Turkmani S, Alkuraya H, Hall BD, Alkuraya FS.
    Mol Vis; 2010 May 08; 16():813-8. PubMed ID: 20461149
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  • 3. Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.
    Stoetzel C, Riehm S, Bennouna Greene V, Pelletier V, Vigneron J, Leheup B, Marion V, Hellé S, Danse JM, Thibault C, Moulinier L, Veillon F, Dollfus H.
    Am J Med Genet A; 2009 Oct 08; 149A(10):2141-6. PubMed ID: 19764023
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  • 6. A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
    Meshcheryakova TI, Zinchenko RA, Vasilyeva TA, Marakhonov AV, Zhylina SS, Petrova NV, Kozhanova TV, Belenikin MS, Petrin AN, Mutovin GR.
    Ann Hum Genet; 2015 Mar 08; 79(2):148-52. PubMed ID: 25590586
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  • 7. Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.
    Li H, Sheridan R, Williams T.
    Hum Mol Genet; 2013 Aug 15; 22(16):3195-206. PubMed ID: 23578821
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  • 20. Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient.
    Reiber J, Sznajer Y, Posteguillo EG, Müller D, Lyonnet S, Baumann C, Just W.
    Am J Med Genet A; 2010 Aug 15; 152A(8):2143. PubMed ID: 20635357
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