134 related articles for article (PubMed ID: 28085512)
21. Williams-Beuren syndrome-associated transcription factor TFII-I regulates osteogenic marker genes.
Lazebnik MB; Tussie-Luna MI; Hinds PW; Roy AL
J Biol Chem; 2009 Dec; 284(52):36234-36239. PubMed ID: 19880526
[TBL] [Abstract][Full Text] [Related]
22. Alternative splicing and promoter use in TFII-I genes.
Makeyev AV; Bayarsaihan D
Gene; 2009 Mar; 433(1-2):16-25. PubMed ID: 19111598
[TBL] [Abstract][Full Text] [Related]
23. 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
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Induction of neural crest in Xenopus by transcription factor AP2alpha.
Luo T; Lee YH; Saint-Jeannet JP; Sargent TD
Proc Natl Acad Sci U S A; 2003 Jan; 100(2):532-7. PubMed ID: 12511599
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. 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]
28. 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]
29. New TFII-I family target genes involved in embryonic development.
Makeyev AV; Bayarsaihan D
Biochem Biophys Res Commun; 2009 Sep; 386(4):554-8. PubMed ID: 19527686
[TBL] [Abstract][Full Text] [Related]
30. The early embryonic expression of TFII-I during mouse preimplantation development.
Enkhmandakh B; Bitchevaia N; Ruddle F; Bayarsaihan D
Gene Expr Patterns; 2004 Jan; 4(1):25-8. PubMed ID: 14678824
[TBL] [Abstract][Full Text] [Related]
31. A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells.
De Cegli R; Iacobacci S; Fedele A; Ballabio A; di Bernardo D
Sci Data; 2019 Nov; 6(1):262. PubMed ID: 31695049
[TBL] [Abstract][Full Text] [Related]
32. Heterodimerization of TFAP2 pioneer factors drives epigenomic remodeling during neural crest specification.
Rothstein M; Simoes-Costa M
Genome Res; 2020 Jan; 30(1):35-48. PubMed ID: 31848212
[TBL] [Abstract][Full Text] [Related]
33. Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models.
Kopp N; McCullough K; Maloney SE; Dougherty JD
Hum Mol Genet; 2019 Oct; 28(20):3443-3465. PubMed ID: 31418010
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. 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]
36. The contribution of GTF2I haploinsufficiency to Williams syndrome.
Chailangkarn T; Noree C; Muotri AR
Mol Cell Probes; 2018 Aug; 40():45-51. PubMed ID: 29305905
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.
Hinsley TA; Cunliffe P; Tipney HJ; Brass A; Tassabehji M
Protein Sci; 2004 Oct; 13(10):2588-99. PubMed ID: 15388857
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Branchio-oculo-facial syndrome presenting with concomitant thyroglossal duct cyst.
Shabbir AQ; Nazareth MR; Rothman IL
Pediatr Dermatol; 2012; 29(3):383-4. PubMed ID: 22276601
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]