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Journal Abstract Search

131 related items for PubMed ID: 27607113

  • 1. An Unconventional Presentation of Branchio-Oculo-Facial Syndrome.
    Yi S, Albino FP, Wood BC, Sauerhammer TM, Rogers GF, Oh AK.
    J Craniofac Surg; 2016 Sep; 27(6):1412-4. PubMed ID: 27607113
    [Abstract] [Full Text] [Related]

  • 2. 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; 79(2):148-52. PubMed ID: 25590586
    [Abstract] [Full Text] [Related]

  • 3. A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.
    Aliferis K, Stoetzel C, Pelletier V, Hellé S, Angioï-Duprez K, Vigneron J, Leheup B, Marion V, Dollfus H.
    Ophthalmic Genet; 2011 Nov; 32(4):250-5. PubMed ID: 21728810
    [Abstract] [Full Text] [Related]

  • 4. Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality.
    Titheradge HL, Patel C, Ragge NK.
    Clin Dysmorphol; 2015 Jan; 24(1):13-6. PubMed ID: 25325185
    [Abstract] [Full Text] [Related]

  • 5. TFAP2A mutations result in branchio-oculo-facial syndrome.
    Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE.
    Am J Hum Genet; 2008 May; 82(5):1171-7. PubMed ID: 18423521
    [Abstract] [Full Text] [Related]

  • 6. 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; 149A(10):2141-6. PubMed ID: 19764023
    [Abstract] [Full Text] [Related]

  • 7. Ocular anomalies in the branchio-oculo-facial syndrome.
    Su CS, O'Hagen SB, Sullivan TJ.
    Aust N Z J Ophthalmol; 1998 Feb; 26(1):43-6. PubMed ID: 9524030
    [Abstract] [Full Text] [Related]

  • 8. [Branchio-oculo-facial syndrome].
    Frascari F, Bieth E, Galinier P, Just W, Mazereeuw-Hautier J.
    Ann Dermatol Venereol; 2012 Feb; 139(8-9):550-4. PubMed ID: 22963965
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  • 13. Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
    Milunsky JM, Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch M, Chénier S, Cunningham ML, Drack AV, Janssens S, Karlea A, Klatt R, Kini U, Klein O, Lachmeijer AM, Megarbane A, Mendelsohn NJ, Meschino WS, Mortier GR, Parkash S, Ray CR, Roberts A, Roberts A, Reardon W, Schnur RE, Smith R, Splitt M, Tezcan K, Whiteford ML, Wong DA, Zori R, Lin AE.
    Am J Med Genet A; 2011 Jan; 155A(1):22-32. PubMed ID: 21204207
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  • 14. Branchio-oculo-facial syndrome.
    Raveh E, Papsin BC, Forte V.
    Int J Pediatr Otorhinolaryngol; 2000 Jun 30; 53(2):149-56. PubMed ID: 10906521
    [Abstract] [Full Text] [Related]

  • 15. [New oral manifestations of Branchio-oculo-facial syndrome. Case report].
    García Flores JB, Escamilla Ocañas CE, Martínez Menchaca HR, Treviño Alanís MG, Rivera Silva G.
    Arch Argent Pediatr; 2015 Jan 30; 113(1):e14-6. PubMed ID: 25622170
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports.
    Galliani E, Burglen L, Kadlub N, Just W, Sznajer Y, de Villemeur TB, Soupre V, Picard A, Vazquez MP.
    Cleft Palate Craniofac J; 2012 May 08; 49(3):357-64. PubMed ID: 21539471
    [Abstract] [Full Text] [Related]

  • 18. Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.
    Gestri G, Osborne RJ, Wyatt AW, Gerrelli D, Gribble S, Stewart H, Fryer A, Bunyan DJ, Prescott K, Collin JR, Fitzgerald T, Robinson D, Carter NP, Wilson SW, Ragge NK.
    Hum Genet; 2009 Dec 08; 126(6):791-803. PubMed ID: 19685247
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. [Genetic analysis of a Chinese pedigree affected with Branchio-oculo-facial syndrome and a literature review].
    Li K, Sun H, Guo Y, Sun G, Duan H, Kong X, Liu N.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Sep 10; 41(9):1084-1089. PubMed ID: 39217487
    [Abstract] [Full Text] [Related]

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