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Journal Abstract Search

186 related items for PubMed ID: 8832722

  • 21. TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome.
    Si-Min Ng P, Khan S, Lim JY, Chew-Yin Goh J, Lin GX, Wei H, Tan EC, Jamuar SS.
    Clin Dysmorphol; 2019 Oct; 28(4):215-218. PubMed ID: 31490282
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  • 23. Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome.
    Warburg M, Jensen H, Prause JU, Bolund S, Skovby F, Miranda MJ.
    Am J Med Genet; 1997 Nov 28; 73(1):36-40. PubMed ID: 9375920
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  • 25. Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome).
    Chen YH, Sun MH, Hsia SH, Lai CC, Wu WC.
    BMC Ophthalmol; 2014 Nov 24; 14():143. PubMed ID: 25421742
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  • 28. New autosomal dominant branchio-oculo-facial syndrome.
    Fujimoto A, Lipson M, Lacro RV, Shinno NW, Boelter WD, Jones KL, Wilson MG.
    Am J Med Genet; 1987 Aug 24; 27(4):943-51. PubMed ID: 3321995
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  • 29. Branchio-oculo-facial syndrome.
    Raveh E, Papsin BC, Forte V.
    Int J Pediatr Otorhinolaryngol; 2000 Jun 30; 53(2):149-56. PubMed ID: 10906521
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  • 30. 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 30; 49(3):357-64. PubMed ID: 21539471
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  • 31. 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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  • 32. Ocular colobomata.
    Onwochei BC, Simon JW, Bateman JB, Couture KC, Mir E.
    Surv Ophthalmol; 2000 Feb 15; 45(3):175-94. PubMed ID: 11094243
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  • 33. Branchio-oculo-facial syndrome (BOFS) and congenital heart defects.
    Rosa RF, Zen PR, Graziadio C, Paskulin GA.
    Arq Bras Cardiol; 2009 Feb 15; 92(2):e6-8, e33-5. PubMed ID: 19360235
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  • 34. Muencke syndrome with cleft lip and palate.
    Anderson PJ, Snell B, Moore MH.
    J Craniofac Surg; 2013 Jul 15; 24(4):1484-5. PubMed ID: 23851839
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  • 35. 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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  • 37. Branchio-oculo-facial syndrome with bilateral postauricular aplasia cutis.
    Stembridge N, Burrows NP, Holden ST.
    Clin Exp Dermatol; 2021 Dec 08; 46(8):1659-1661. PubMed ID: 34435384
    [No Abstract] [Full Text] [Related]

  • 38. Branchio-oculo-facial syndrome with bilateral linear scars of the neck.
    El Darouti MA, Marzouk SA, Azzam OA, Nada HR, Sobhi RM, El Nabarawi I.
    Int J Dermatol; 2005 Aug 08; 44(8):674-6. PubMed ID: 16101871
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  • 40. 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
    [Abstract] [Full Text] [Related]

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