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Items: 1 to 20 of 28

1.

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.

PMID:
25590586
2.

Branchiootorenal and branchiooculofacial syndrome.

Ječmenica J, Bajec-Opančina A.

J Craniofac Surg. 2015 Jan;26(1):e30-1. doi: 10.1097/SCS.0000000000001268.

PMID:
25569411
3.

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. doi: 10.1097/MCD.0000000000000056.

PMID:
25325185
4.

Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement.

Lugli L, Just W, Genovese E, Palma S, Ferrari F, Percesepe A.

Clin Dysmorphol. 2015 Jan;24(1):17-20. doi: 10.1097/MCD.0000000000000061. No abstract available.

PMID:
25325184
5.

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
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 15;22(16):3195-206. doi: 10.1093/hmg/ddt173. Epub 2013 Apr 10.

7.

Mutations in KCTD1 cause scalp-ear-nipple syndrome.

Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, de Macena Sobreira NL, Perez AB, Fortes JA, Lampe AK, Giovannucci Uzielli ML, Gordon CT, Plessis G, Le Merrer M, Amiel J, Reichenberger E, Shively KM, Cerrato F, Labow BI, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics.

Am J Hum Genet. 2013 Apr 4;92(4):621-6. doi: 10.1016/j.ajhg.2013.03.002. Epub 2013 Mar 28.

8.

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. doi: 10.1002/ajmg.a.35804. Epub 2013 Mar 12. No abstract available.

PMID:
23495225
9.

A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome.

Murray B, Wagle R, Amat-Alarcon N, Wilkens A, Stephens P, Zackai EH, Goldmuntz E, Calkins H, Deardorff MA, Judge DP.

Am J Med Genet A. 2013 Feb;161A(2):371-6. doi: 10.1002/ajmg.a.35733. Epub 2013 Jan 10.

PMID:
23307527
10.

Branchiooculofacial syndrome and bilateral ectopic thymus: report of a family.

Loh J, El-Hakim H, Sergi CM, Fiorillo L.

Pediatr Dermatol. 2012 Nov-Dec;29(6):759-61. doi: 10.1111/j.1525-1470.2012.01877.x.

PMID:
23106675
11.

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. doi: 10.1016/j.bjps.2012.03.045. Epub 2012 Apr 24.

PMID:
22537416
12.

Combined hamartoma of the retina and retinal pigment epithelium in a child with branchial cleft cysts.

Badami A, Bianciotto CG, Shields CL, Shields JA.

J Pediatr Ophthalmol Strabismus. 2012 Mar 13;49 Online:e9-11. doi: 10.3928/01913913-20120306-01.

PMID:
22420620
13.

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
14.

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
15.

Evidence of an involvement of TFAP2A gene in non-syndromic cleft lip with or without cleft palate: an Italian study.

Martinelli M, Masiero E, Carinci F, Morselli PG, Palmieri A, Girardi A, Baciliero U, Scapoli L.

Int J Immunopathol Pharmacol. 2011 Apr-Jun;24(2 Suppl):7-10.

PMID:
21781438
16.

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
17.

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
18.

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. Review.

PMID:
21250552
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;155A(1):22-32. doi: 10.1002/ajmg.a.33783.

PMID:
21204207
20.

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
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