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Journal Abstract Search

129 related items for PubMed ID: 21250552

  • 1. Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene.
    Thomeer HG, Crins TT, Kamsteeg EJ, Buijsman W, Cruysberg JR, Knoers NV, Cremers CW.
    Ann Otol Rhinol Laryngol; 2010 Dec; 119(12):806-14. PubMed ID: 21250552
    [Abstract] [Full Text] [Related]

  • 2. A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.
    Tekin M, Sirmaci A, Yüksel-Konuk B, Fitoz S, Sennaroğlu L.
    Am J Med Genet A; 2009 Mar; 149A(3):427-30. PubMed ID: 19206157
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-Facial syndrome.
    Vantrappen G, Feenstra L, Fryns JP.
    Genet Couns; 2000 Oct; 11(3):273-6. PubMed ID: 11043436
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Branchio-oculo-facial syndrome presenting with concomitant thyroglossal duct cyst.
    Shabbir AQ, Nazareth MR, Rothman IL.
    Pediatr Dermatol; 2012 May 08; 29(3):383-4. PubMed ID: 22276601
    [Abstract] [Full Text] [Related]

  • 8. Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.
    Carter MT, Blaser S, Papsin B, Meschino W, Reardon W, Klatt R, Babul-Hirji R, Milunsky J, Chitayat D.
    Am J Med Genet A; 2012 Aug 08; 158A(8):1977-81. PubMed ID: 22711382
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome.
    LeBlanc SK, Yu S, Barnett CP.
    Am J Med Genet A; 2013 Apr 08; 161A(4):901-4. PubMed ID: 23495225
    [No Abstract] [Full Text] [Related]

  • 11. 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 08; 33(2):100-6. PubMed ID: 22191992
    [Abstract] [Full Text] [Related]

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  • 13. Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient.
    Reiber J, Sznajer Y, Posteguillo EG, Müller D, Lyonnet S, Baumann C, Just W.
    Am J Med Genet A; 2010 Aug 08; 152A(8):2143. PubMed ID: 20635357
    [No Abstract] [Full Text] [Related]

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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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  • 17. Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.
    Reiber J, Sznajer Y, Posteguillo EG, Müller D, Lyonnet S, Baumann C, Just W.
    Am J Med Genet A; 2010 Apr 15; 152A(4):994-9. PubMed ID: 20358615
    [Abstract] [Full Text] [Related]

  • 18. Branchio-oculo-facial syndrome: case report.
    Lin JL, Chen PK.
    Changgeng Yi Xue Za Zhi; 1999 Mar 15; 22(1):128-32. PubMed ID: 10418222
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 155A(1):22-32. PubMed ID: 21204207
    [Abstract] [Full Text] [Related]

  • 20. 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 Jan 15; 25(1):41-7. PubMed ID: 24783654
    [Abstract] [Full Text] [Related]

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