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Journal Abstract Search

122 related items for PubMed ID: 32766183

  • 1. A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report.
    Min J, Mao B, Wang Y, He X, Gao S, Wang H.
    Front Pediatr; 2020; 8():380. PubMed ID: 32766183
    [Abstract] [Full Text] [Related]

  • 2. 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
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  • 3. 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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  • 4. [Branchio-oculo-facial syndrome].
    Frascari F, Bieth E, Galinier P, Just W, Mazereeuw-Hautier J.
    Ann Dermatol Venereol; 2012 Jun; 139(8-9):550-4. PubMed ID: 22963965
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  • 5. 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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  • 6. [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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  • 11. 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 10; 24(1):13-6. PubMed ID: 25325185
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  • 12. 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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  • 13. 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
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  • 14. 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 Dec 08; 25(1):41-7. PubMed ID: 24783654
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  • 15. 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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  • 16. A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome.
    Lam K, Cassidy B, Arreola R, Al Saif H, King K, Couser NL.
    J Pediatr Ophthalmol Strabismus; 2023 Aug 15; 60(4):295-301. PubMed ID: 36263936
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  • 17. 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 15; 149A(10):2141-6. PubMed ID: 19764023
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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 Oct 15; 1(5):255-261. PubMed ID: 22140378
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  • 19. A Rare Case of Branchio-oculo-facial Syndrome: Clinical and Histopathological Features.
    Iraji F, Shahbazi M, Abtahi-Naeini B, Asilian A, Shahmoradi Z, Bostakian A, Rajabi P, Kazemipour S.
    Adv Biomed Res; 2018 Oct 15; 7():145. PubMed ID: 30596055
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