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Items: 1 to 20 of 107

1.

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.

PMID:
24783654
2.

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. doi: 10.1111/ahg.12098. Epub 2015 Jan 15.

3.

Branchio-oculo-facial syndrome presenting with concomitant thyroglossal duct cyst.

Shabbir AQ, Nazareth MR, Rothman IL.

Pediatr Dermatol. 2012 May-Jun;29(3):383-4. doi: 10.1111/j.1525-1470.2011.01667.x. Epub 2012 Jan 26.

PMID:
22276601
4.

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. doi: 10.1016/j.ajhg.2008.03.005. Erratum in: Am J Hum Genet. 2009 Feb;84(2):301..

5.

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. doi: 10.3109/13816810.2011.592176. Epub 2011 Jul 5.

PMID:
21728810
6.

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. doi: 10.1002/ajmg.a.33783.

PMID:
21204207
7.

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. doi: 10.3109/13816810.2011.634878. Epub 2011 Dec 22.

PMID:
22191992
8.

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. doi: 10.1002/ajmg.a.33015.

PMID:
19764023
9.

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;152A(8):2143. doi: 10.1002/ajmg.a.33512. No abstract available.

PMID:
20635357
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 8;16:813-8. Review.

11.

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. doi: 10.1597/10-203. Epub 2011 May 3.

PMID:
21539471
12.

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. Erratum in: J Craniofac Surg. 2009 Sep;20(5):1629-30.

PMID:
19795528
13.

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.

PMID:
8832722
14.

[Branchio-oculo-facial syndrome].

Frascari F, Bieth E, Galinier P, Just W, Mazereeuw-Hautier J.

Ann Dermatol Venereol. 2012 Aug-Sep;139(8-9):550-4. doi: 10.1016/j.annder.2012.05.006. Epub 2012 Jul 6. French.

PMID:
22963965
15.

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.

PMID:
9524030
16.

The branchio-oculo-facial syndrome.

Lin AE, Losken HW, Jaffe R, Biglan AW.

Cleft Palate Craniofac J. 1991 Jan;28(1):96-102. Review.

PMID:
2004100
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;152A(4):994-9. doi: 10.1002/ajmg.a.33331.

PMID:
20358615
18.

Branchio-oculo-facial syndrome with cleft lip and bilateral dermal thymus.

Bennaceur S, Buisson T, Bertolus C, Couly G.

Cleft Palate Craniofac J. 1998 Sep;35(5):454-9.

PMID:
9761567
19.

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. doi: 10.1002/ajmg.a.32619.

PMID:
19206157
20.

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. doi: 10.1093/hmg/ddt173. Epub 2013 Apr 10.

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