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Items: 1 to 20 of 257

1.

Caruncle abnormalities in the oculo-auriculo-vertebral spectrum.

Nijhawan N, Morad Y, Seigel-Bartelt J, Levin AV.

Am J Med Genet. 2002 Dec 15;113(4):320-5. Erratum in: Am J Med Genet. 2003 Apr 30;118A(3):304.

PMID:
12457402
2.

A family with autosomal dominant oculo-auriculo-vertebral spectrum.

Tasse C, Majewski F, Böhringer S, Fischer S, Lüdecke HJ, Gillessen-Kaesbach G, Wieczorek D.

Clin Dysmorphol. 2007 Jan;16(1):1-7. Review.

PMID:
17159507
3.

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, Ramos F, Sá J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M.

Eur J Med Genet. 2015 Sep;58(9):455-65. doi: 10.1016/j.ejmg.2015.07.003. Epub 2015 Jul 20.

PMID:
26206081
4.
5.

Goldenhar syndrome (oculoauriculovertebral dysplasia): report of one case.

Ng YY, Hu JM, Su PH, Chen JY, Yang MS, Chen SJ.

Acta Paediatr Taiwan. 2006 May-Jun;47(3):142-5.

PMID:
17078468
6.
7.

Goldenhar's syndrome associated with multiple congenital abnormalities.

Bayraktar S, Bayraktar ST, Ataoglu E, Ayaz A, Elevli M.

J Trop Pediatr. 2005 Dec;51(6):377-9. Epub 2005 Sep 26.

PMID:
16186139
8.

Non-syndromic supernumerary caruncles causing ocular irritation after cataract surgery: a critical review of caruncular dysgeneses.

Jakobiec FA, Lam H, Bhat P, Pineda R.

Am J Ophthalmol. 2010 Mar;149(3):398-404.e1-2. doi: 10.1016/j.ajo.2009.09.028. Review.

PMID:
20172067
9.

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

Tasse C, Böhringer S, Fischer S, Lüdecke HJ, Albrecht B, Horn D, Janecke A, Kling R, König R, Lorenz B, Majewski F, Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Kohlhase J, Gillessen-Kaesbach G, Wieczorek D.

Eur J Med Genet. 2005 Oct-Dec;48(4):397-411. Epub 2005 Jun 8.

PMID:
16378924
10.

Ocular findings in the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome).

Mansour AM, Wang F, Henkind P, Goldberg R, Shprintzen R.

Am J Ophthalmol. 1985 Oct 15;100(4):555-9.

PMID:
4050929
11.

Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors.

Strömland K, Miller M, Sjögreen L, Johansson M, Joelsson BM, Billstedt E, Gillberg C, Danielsson S, Jacobsson C, Andersson-Norinder J, Granström G.

Am J Med Genet A. 2007 Jun 15;143A(12):1317-25.

PMID:
17506093
12.

A family with dominant oculoauriculovertebral spectrum.

Stoll C, Viville B, Treisser A, Gasser B.

Am J Med Genet. 1998 Jul 24;78(4):345-9.

PMID:
9714437
13.

[Goldenhar syndrome. Oculoauriculovertebral dysplasia. 2 new pediatric cases].

Prigent F, Ramel F, Valleteau de Moulliac J.

Ann Dermatol Venereol. 1983;110(4):345-9. French.

PMID:
6625459
14.

Multiple accessory tragi as a clue to the diagnosis of the oculo-auriculo-vertebral (Goldenhar) syndrome.

Miller TD, Metry D.

J Am Acad Dermatol. 2004 Feb;50(2 Suppl):S11-3.

PMID:
14726857
15.

[Goldenhar syndrome. Report of a new case].

Pedraz García C, Benito Zaballos MF, García González P, Carbajosa Herrero T, Heras de Pedro M, Santos Borbujo J, Gil Sánchez A, Salazar Villalobos V.

An Esp Pediatr. 1984 Mar 15;20(4):403-7. Spanish.

PMID:
6732067
16.

Thrombophilia gene mutations in oculoauriculovertebral spectrum.

Tug E, Atasoy HI, Koybasi Sanal S.

Genet Couns. 2012;23(1):65-72.

PMID:
22611644
17.

Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum.

Johnson JP, Poskanzer LS, Sherman S.

Am J Med Genet. 1996 Jan 11;61(2):134-9.

PMID:
8669439
18.

Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q).

Herman GE, Greenberg F, Ledbetter DH.

Am J Med Genet. 1988 Apr;29(4):909-15.

PMID:
3400736
19.

Characterizing the oculoauriculofrontonasal syndrome.

Gabbett MT, Robertson SP, Broadbent R, Aftimos S, Sachdev R, Nezarati MM.

Clin Dysmorphol. 2008 Apr;17(2):79-85. doi: 10.1097/MCD.0b013e3282f449c8.

PMID:
18388775
20.

Two neighboring microdeletions of 5q13.2 in a child with oculo-auriculo-vertebral spectrum.

Huang XS, Xiao L, Li X, Xie Y, Jiang HO, Tan C, Wang L, Zhang JX.

Eur J Med Genet. 2010 May-Jun;53(3):153-8. doi: 10.1016/j.ejmg.2010.03.004. Epub 2010 Mar 24.

PMID:
20346424

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