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Items: 1 to 20 of 101

1.

Expanded spectrum of oculo-auriculo-vertebral spectrum with imperforate anus in a male patient who is negative for SALL1 mutations.

Slavotinek AM, Vargervik K.

Clin Dysmorphol. 2011 Jan;20(1):11-4. No abstract available.

PMID:
21188766
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.
4.

Prenatal diagnosis of facial clefting as part of the oculo-auriculo-vertebral spectrum.

Witters I, Schreurs J, Van Wing J, Wouters W, Fryns JP.

Prenat Diagn. 2001 Jan;21(1):62-4.

PMID:
11180244
5.

OEIS complex with craniofacial anomalies--defect of blastogenesis?

Haldar A, Sharma AK, Phadke SR, Jain A, Agarwal SS.

Am J Med Genet. 1994 Oct 15;53(1):21-3.

PMID:
7802030
6.

Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum.

Manara R, Brotto D, Ghiselli S, Mardari R, Toldo I, Schifano G, Cantone E, Bovo R, Martini A.

AJNR Am J Neuroradiol. 2015 Jul;36(7):1375-80. doi: 10.3174/ajnr.A4273. Epub 2015 Mar 26.

7.

The axial mesodermal dysplasia spectrum.

Russell LJ, Weaver DD, Bull MJ.

Pediatrics. 1981 Feb;67(2):176-82.

PMID:
7243441
8.

Dysphagia in children with oculo-auriculo-vertebral spectrum.

Yokochi K, Terasawa S, Kono C, Fujishima I.

Dysphagia. 1997 Fall;12(4):222-5.

PMID:
9294943
9.

Novel deformity of the mandible in oculo-auriculo-vertebral spectrum: case report and literature review.

Caccamese JF Jr, Costello BJ, Mooney MP.

J Oral Maxillofac Surg. 2006 Aug;64(8):1278-82. Review. No abstract available.

PMID:
16860224
10.

Oculo-auriculo-vertebral spectrum: cranial and vertebral malformations due to focal disturbed chondrogenesis.

Goret-Nicaise M, Baertz G, Saussoy P, Dhem A.

J Craniofac Genet Dev Biol. 1997 Jan-Mar;17(1):35-42.

PMID:
9211120
11.

Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study.

Silva AP, Rosa RF, Trevisan P, Dorneles JC, Mesquita CS, Mattos VF, Paskulin GA, Zen PR.

Sao Paulo Med J. 2015 May-Jun;133(3):191-8. doi: 10.1590/1516-3180.2013.7762204. Epub 2014 Oct 17.

12.

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
13.

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
14.

The association of congenital spinal anomalies with imperforate anus.

Denton JR.

Clin Orthop Relat Res. 1982 Jan-Feb;(162):91-8.

PMID:
7067238
15.

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
16.

Autosomal dominant inherited oculo-auriculo-vertebral spectrum: report of one family.

Tsai FJ, Tsai CH.

Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1993 Jan-Feb;34(1):27-31.

PMID:
8333284
17.

Goldenhar syndrome (oculo-auriculo-vertebral dysplasia) in new born.

Mishra PC, Mathur GP, Mathur S, Singh YD.

Indian Pediatr. 1981 Dec;18(12):927-8. No abstract available.

PMID:
7343493
18.

Goldenhar's Syndrome (oculo-auriculo-vertebral dysplasia) with congenital facial nerve palsy.

Berker N, Acaroğlu G, Soykan E.

Yonsei Med J. 2004 Feb 29;45(1):157-60.

19.

A new polydactyly-imperforate-anus-vertebral-anomalies syndrome?

Tünte W.

Lancet. 1968 Nov 16;2(7577):1081-2. No abstract available.

PMID:
4176889
20.

Goldenhar syndrome (oculo-auriculo-vertebral dysplasia) in a twin new born baby.

Faridi MM, Ahmad S, Moonis R, Ansari Z, Bhargava SK.

Indian J Pediatr. 1986 Mar-Apr;53(2):291-4. No abstract available.

PMID:
3744465

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