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Journal Abstract Search

145 related items for PubMed ID: 22140378

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  • 2. 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; 126(6):791-803. PubMed ID: 19685247
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  • 4. 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
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  • 7. 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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  • 8. 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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  • 9. 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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  • 10. Branchio-oculo-facial syndrome: broadening the spectrum.
    McCool M, Weaver DD.
    Am J Med Genet; 1994 Feb 15; 49(4):414-21. PubMed ID: 8160736
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  • 14. 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 Feb 15; 8():380. PubMed ID: 32766183
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  • 15. 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 15; 33(2):100-6. PubMed ID: 22191992
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  • 20. Ocular anomalies in the branchio-oculo-facial syndrome.
    Su CS, O'Hagen SB, Sullivan TJ.
    Aust N Z J Ophthalmol; 1998 Feb 15; 26(1):43-6. PubMed ID: 9524030
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