BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

270 related articles for article (PubMed ID: 18423521)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 22(16):3195-206. PubMed ID: 23578821
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 33(2):100-6. PubMed ID: 22191992
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 25(1):41-7. PubMed ID: 24783654
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Branchio-oculo-facial syndrome].
    Frascari F; Bieth E; Galinier P; Just W; Mazereeuw-Hautier J
    Ann Dermatol Venereol; 2012; 139(8-9):550-4. PubMed ID: 22963965
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 16():813-8. PubMed ID: 20461149
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 152A(4):994-9. PubMed ID: 20358615
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 49(3):357-64. PubMed ID: 21539471
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Lesser forms of cleft lip associated with the branchio-oculo-facial syndrome.
    Lin AE; Yuzuriha S; McLean S; Mulliken JB
    J Craniofac Surg; 2009 Mar; 20 Suppl 1():608-11. PubMed ID: 19795528
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 161A(4):901-4. PubMed ID: 23495225
    [No Abstract]   [Full Text] [Related]  

  • 17. 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; 24(1):13-6. PubMed ID: 25325185
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Branchi-oculo-facial syndrome: a case report to highlight recent genetic considerations.
    Abbo O; Bieth E; Ballouhey Q; Vaysse F; Just W; Galinier P
    J Plast Reconstr Aesthet Surg; 2012 Nov; 65(11):1573-5. PubMed ID: 22537416
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.