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Journal Abstract Search

111 related items for PubMed ID: 21539471

  • 21. 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
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  • 22. [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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  • 24. 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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  • 27. Ocular anomalies in the branchio-oculo-facial syndrome.
    Su CS, O'Hagen SB, Sullivan TJ.
    Aust N Z J Ophthalmol; 1998 Feb 10; 26(1):43-6. PubMed ID: 9524030
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  • 28. Branchio-oculo-facial syndrome and branchio-otic/branchio-oto-renal syndromes are distinct entities.
    Trummer T, Müller D, Schulze A, Vogel W, Just W.
    J Med Genet; 2002 Jan 10; 39(1):71-3. PubMed ID: 11826031
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  • 30. 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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  • 32. TFII-I and AP2α Co-Occupy the Promoters of Key Regulatory Genes Associated with Craniofacial Development.
    Miranda P, Enkhmandakh B, Bayarsaihan D.
    Cleft Palate Craniofac J; 2018 Jul 30; 55(6):865-870. PubMed ID: 28085512
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  • 33. Branchio-oculo-facial syndrome.
    Kulkarni ML, Deshmukh S, Kumar A, Kulkarni PM.
    Indian J Pediatr; 2005 Aug 30; 72(8):701-3. PubMed ID: 16131778
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  • 35. A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review.
    Luo F, Lu M, Zhao L, Zhou P.
    Medicine (Baltimore); 2023 Nov 03; 102(44):e34962. PubMed ID: 37932997
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  • 37. Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3).
    Stratakis CA, Lin JP, Rennert OM.
    Am J Med Genet; 1998 Sep 23; 79(3):209-14. PubMed ID: 9788564
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  • 38. Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.
    Olavarrieta L, Morales-Angulo C, del Castillo I, Moreno F, Moreno-Pelayo MA.
    Clin Genet; 2008 Mar 23; 73(3):262-7. PubMed ID: 18177466
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  • 39. Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome).
    Skarzynski H, Podskarbi-Fayette R.
    Int J Pediatr Otorhinolaryngol; 2009 Jan 23; 73(1):143-51. PubMed ID: 19012972
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  • 40. A Case of Branchio-oculo-facial Syndrome.
    Park MY, Kim YC.
    Ann Dermatol; 2009 Aug 23; 21(3):288-90. PubMed ID: 20523806
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