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Items: 1 to 20 of 74

1.

Recurrence of orbital cysts in the branchio-oculo-facial syndrome.

Fielding DW, Fryer AE.

J Med Genet. 1992 Jun;29(6):430-1.

2.
3.

A lethal syndrome resembling branchio-oculo-facial syndrome.

Hing AV, Torack R, Dowton SB.

Clin Genet. 1992 Feb;41(2):74-8.

PMID:
1544215
4.

Branchio-oculo-facial syndrome: broadening the spectrum.

McCool M, Weaver DD.

Am J Med Genet. 1994 Feb 15;49(4):414-21. Review.

PMID:
8160736
5.

Two sisters with Silver-Russell phenotype.

Ounap K, Reimand T, Mägi ML, Bartsch O.

Am J Med Genet A. 2004 Dec 15;131(3):301-6.

PMID:
15523618
6.

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
7.

Autosomal recessive form of whistling face syndrome in sibs.

Dallapiccola B, Giannotti A, Lembo A, Saguì L.

Am J Med Genet. 1989 Aug;33(4):542-4.

PMID:
2596515
8.

On the variable expression of the Brachmann-de Lange syndrome.

de Die-Smulders C, Theunissen P, Schrander-Stumpel C, Frijns JP.

Clin Genet. 1992 Jan;41(1):42-5.

PMID:
1633646
9.

New ophthalmic manifestations of branchio-oculo-facial syndrome.

Demirci H, Shields CL, Shields JA.

Am J Ophthalmol. 2005 Feb;139(2):362-4.

PMID:
15734008
10.

New autosomal dominant branchio-oculo-facial syndrome.

Fujimoto A, Lipson M, Lacro RV, Shinno NW, Boelter WD, Jones KL, Wilson MG.

Am J Med Genet. 1987 Aug;27(4):943-51. Review.

PMID:
3321995
11.

Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.

Lin AE, Semina EV, Daack-Hirsch S, Roeder ER, Curry CJ, Rosenbaum K, Weaver DD, Murray JC.

Am J Med Genet. 2000 Apr 24;91(5):387-90. Erratum in: Am J Med Genet 2000 Jul 17;93(2):169.

PMID:
10767004
12.

Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly).

Lazalde B, Sánchez-Urbina R, Nuño-Arana I, Bitar WE, de Lourdes Ramírez-Dueñas M.

Am J Med Genet. 2000 Oct 23;94(5):421-7. Review.

PMID:
11050630
13.

[Branchio-oto-renal dysplasia. A hereditary dominant autosomal syndrome with variable expression].

Stoll C, Roth MP, Hessemann H, Paira M.

Arch Fr Pediatr. 1983 Dec;40(10):763-6. French.

PMID:
6673680
14.

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
15.
16.

Bannayan-Zonana syndrome: a rare autosomal dominant syndrome with multiple lipomas and hemangiomas: a case report and review of literature.

Gujrati M, Thomas C, Zelby A, Jensen E, Lee JM.

Surg Neurol. 1998 Aug;50(2):164-8. Review.

PMID:
9701122
18.

Possible autosomal-recessive ocular coloboma.

Pagon RA, Kalina RE, Lechner DJ.

Am J Med Genet. 1981;9(3):189-93.

PMID:
7282780
19.

Branchio-oculo-facial syndrome with bilateral linear scars of the neck.

El Darouti MA, Marzouk SA, Azzam OA, Nada HR, Sobhi RM, El Nabarawi I.

Int J Dermatol. 2005 Aug;44(8):674-6.

PMID:
16101871
20.

Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome).

Skarzynski H, Podskarbi-Fayette R.

Int J Pediatr Otorhinolaryngol. 2009 Jan;73(1):143-51. doi: 10.1016/j.ijporl.2008.09.021. Epub 2008 Nov 13.

PMID:
19012972

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