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Items: 1 to 20 of 77

1.

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.

Ballesta-Martínez MJ, López-González V, Dulcet LA, Rodríguez-Santiago B, Garcia-Miñaúr S, Guillen-Navarro E.

Am J Med Genet A. 2013 Aug;161A(8):2030-5. doi: 10.1002/ajmg.a.36007. Epub 2013 Jun 21.

PMID:
23794319
2.

Coexistence of bilateral first and second branchial arch anomalies.

Thakur JS, Shekar V, Saluja M, Mohindroo NK.

BMJ Case Rep. 2013 Apr 10;2013. pii: bcr2013008698. doi: 10.1136/bcr-2013-008698.

3.

Hemifacial microsomia.

Ullal S, Mahale A, Paudel K.

Indian J Otolaryngol Head Neck Surg. 2008 Dec;60(4):384-6. doi: 10.1007/s12070-008-0122-x. Epub 2009 Jan 28.

4.

Goldenhar syndrome in an infant of diabetic mother.

Gharehbaghi MM, Ghaemi MR.

Iran J Pediatr. 2010 Mar;20(1):131-4.

5.

Hemifacial microsomia with pulmonary hypoplasia.

Panigrahi I, Das RR, Marwaha RK.

BMJ Case Rep. 2010 May 16;2010. pii: bcr0420091759. doi: 10.1136/bcr.04.2009.1759.

6.

Thrombophilia gene mutations in oculoauriculovertebral spectrum.

Tug E, Atasoy HI, Koybasi Sanal S.

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

PMID:
22611644
7.

Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome.

Northup JK, Matalon D, Hawkins JC, Matalon R, Velagaleti GV.

Clin Dysmorphol. 2010 Oct;19(4):185-9. doi: 10.1097/MCD.0b013e3283359386.

PMID:
20571379
8.

Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature.

Vendramini-Pittoli S, Kokitsu-Nakata NM.

Clin Dysmorphol. 2009 Apr;18(2):67-77. doi: 10.1097/MCD.0b013e328323a7dd. Review.

PMID:
19305190
9.

Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1.

Goodin K, Prucka S, Woolley AL, Kohlhase J, Smith RJ, Grant J, Robin NH.

Am J Med Genet A. 2009 Mar;149A(3):535-8. doi: 10.1002/ajmg.a.32673. No abstract available.

PMID:
19213029
10.

Hemifacial microsomia: a case report.

Kapur R, Kapur R, Sheikh S, Jindal S, Kulkarni S.

J Indian Soc Pedod Prev Dent. 2008 Jan;26 Suppl 1:S34-40.

11.

Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly.

Ala-Mello S, Siggberg L, Knuutila S, von Koskull H, Taskinen M, Peippo M.

Am J Med Genet A. 2008 Oct 1;146A(19):2490-4. doi: 10.1002/ajmg.a.32479.

PMID:
18792983
12.

Goldenhar syndrome associated with growth hormone deficiency.

Yusufoğlu AM, Cetinkaya E, Ceylaner S, Aycan Z, Kibar E, Ekici F, Kizilgün M.

Genet Couns. 2008;19(2):173-6. Review.

PMID:
18618991
13.

Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).

Digilio MC, Calzolari F, Capolino R, Toscano A, Sarkozy A, de Zorzi A, Dallapiccola B, Marino B.

Am J Med Genet A. 2008 Jul 15;146A(14):1815-9. doi: 10.1002/ajmg.a.32407.

PMID:
18553555
14.
15.

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
16.

Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.

Kosaki R, Fujimaru R, Samejima H, Yamada H, Izumi K, Iijima K, Kosaki K.

Am J Med Genet A. 2007 May 15;143A(10):1087-90.

PMID:
17431915
17.

Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome.

Wieczorek D, Ludwig M, Boehringer S, Jongbloet PH, Gillessen-Kaesbach G, Horsthemke B.

Hum Genet. 2007 May;121(3-4):369-76. Epub 2007 Feb 13.

PMID:
17297623
18.

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
19.

Clinical manifestations in 17 Greek patients with Goldenhar syndrome.

Touliatou V, Fryssira H, Mavrou A, Kanavakis E, Kitsiou-Tzeli S.

Genet Couns. 2006;17(3):359-70.

PMID:
17100205
20.

GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?

Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC.

Am J Med Genet A. 2006 Dec 1;140(23):2571-6.

PMID:
17096318

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