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Journal Abstract Search

225 related items for PubMed ID: 19685247

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  • 3. 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
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  • 4. A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.
    Dumitrescu AV, Milunsky JM, Longmuir SQ, Drack AV.
    Ophthalmic Genet; 2012 Jun; 33(2):100-6. PubMed ID: 22191992
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  • 10. 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
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  • 11. Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.
    Reiber J, Sznajer Y, Posteguillo EG, Müller D, Lyonnet S, Baumann C, Just W.
    Am J Med Genet A; 2010 Apr; 152A(4):994-9. PubMed ID: 20358615
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  • 12. Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation.
    Günes N, Cengiz FB, Duman D, Dervişoğlu S, Tekin M, Tüysüz B.
    Genet Couns; 2014 Apr; 25(1):41-7. PubMed ID: 24783654
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  • 13. Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract.
    Happ H, Weh E, Costakos D, Reis LM, Semina EV.
    BMC Med Genet; 2016 Sep 08; 17(1):64. PubMed ID: 27609212
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  • 14. 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 08; 27(6):1412-4. PubMed ID: 27607113
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  • 15. 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
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  • 16. A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.
    Tekin M, Sirmaci A, Yüksel-Konuk B, Fitoz S, Sennaroğlu L.
    Am J Med Genet A; 2009 Mar 08; 149A(3):427-30. PubMed ID: 19206157
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  • 17. [Branchio-oculo-facial syndrome].
    Frascari F, Bieth E, Galinier P, Just W, Mazereeuw-Hautier J.
    Ann Dermatol Venereol; 2012 Mar 08; 139(8-9):550-4. PubMed ID: 22963965
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  • 18. FOXD1 Duplication Causes Branchial Defects and Interacts with the TFAP2A Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish.
    Balikova I, Devriendt K, Fryns JP, Vermeesch JR.
    Mol Syndromol; 2010 Mar 08; 1(5):255-261. PubMed ID: 22140378
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  • 19. [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
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  • 20. 6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome.
    LeBlanc SK, Yu S, Barnett CP.
    Am J Med Genet A; 2013 Apr 10; 161A(4):901-4. PubMed ID: 23495225
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