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PUBMED FOR HANDHELDS

Journal Abstract Search


153 related items for PubMed ID: 9524030

  • 1. Ocular anomalies in the branchio-oculo-facial syndrome.
    Su CS, O'Hagen SB, Sullivan TJ.
    Aust N Z J Ophthalmol; 1998 Feb; 26(1):43-6. PubMed ID: 9524030
    [Abstract] [Full Text] [Related]

  • 2. 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
    [No Abstract] [Full Text] [Related]

  • 3. Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome?
    Richardson E, Davison C, Moore AT.
    Ophthalmic Genet; 1996 Jun; 17(2):59-65. PubMed ID: 8832722
    [Abstract] [Full Text] [Related]

  • 4. Branchio-oculo-facial syndrome.
    Raveh E, Papsin BC, Forte V.
    Int J Pediatr Otorhinolaryngol; 2000 Jun 30; 53(2):149-56. PubMed ID: 10906521
    [Abstract] [Full Text] [Related]

  • 5. 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 30; 79(2):148-52. PubMed ID: 25590586
    [Abstract] [Full Text] [Related]

  • 6. Branchio-oculo-facial syndrome (BOFS) and congenital heart defects.
    Rosa RF, Zen PR, Graziadio C, Paskulin GA.
    Arq Bras Cardiol; 2009 Feb 30; 92(2):e6-8, e33-5. PubMed ID: 19360235
    [Abstract] [Full Text] [Related]

  • 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 30; 149A(10):2141-6. PubMed ID: 19764023
    [Abstract] [Full Text] [Related]

  • 8. 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 30; 27(6):1412-4. PubMed ID: 27607113
    [Abstract] [Full Text] [Related]

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  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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 08; 39(1):71-3. PubMed ID: 11826031
    [No Abstract] [Full Text] [Related]

  • 12. 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 08; 32(4):250-5. PubMed ID: 21728810
    [Abstract] [Full Text] [Related]

  • 13. 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 Nov 08; 25(1):41-7. PubMed ID: 24783654
    [Abstract] [Full Text] [Related]

  • 14. Branchio-oculo-facial syndrome: case report.
    Lin JL, Chen PK.
    Changgeng Yi Xue Za Zhi; 1999 Mar 08; 22(1):128-32. PubMed ID: 10418222
    [Abstract] [Full Text] [Related]

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  • 16. Branchio-oculo-facial syndrome.
    Kulkarni ML, Deshmukh S, Kumar A, Kulkarni PM.
    Indian J Pediatr; 2005 Aug 08; 72(8):701-3. PubMed ID: 16131778
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome.
    Legius E, Fryns JP, Van den Berghe H.
    Clin Genet; 1990 May 23; 37(5):347-50. PubMed ID: 2354548
    [Abstract] [Full Text] [Related]

  • 19. Branchio-oto-renal syndrome with generalized microdontia: case report.
    Prabhu NT, Alexander S, John R.
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 1999 Feb 23; 87(2):180-3. PubMed ID: 10052373
    [Abstract] [Full Text] [Related]

  • 20. New ophthalmic manifestations of branchio-oculo-facial syndrome.
    Demirci H, Shields CL, Shields JA.
    Am J Ophthalmol; 2005 Feb 23; 139(2):362-4. PubMed ID: 15734008
    [Abstract] [Full Text] [Related]


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