Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update

SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid

(2013) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: A unique double rearrangement

(2013) Erin E. Torti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry

(2013) Fabiola Quintero-Rivera et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication

(2013) Maria Juliana Ballesta-Martínez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Interstitial deletion 14q31.1q31.3 transmitted from a mother to her daughter, both with features of hemifacial microsomia

(2013) S. Gimelli et al.   JOURNAL OF APPLIED GENETICS

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

(2013) Claudia Voigt et al.   Orphanet Journal of Rare Diseases

Phenotypic variability of atypical 22q11.2 deletions not includingTBX1

(2012) Judith M.A. Verhagen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

EFTUD2haploinsufficiency leads to syndromic oesophageal atresia

(2012) Christopher T Gordon et al.   JOURNAL OF MEDICAL GENETICS

Microtia: Epidemiology and genetics

(2011) Daniela V. Luquetti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic variability of distal 22q11.2 copy number abnormalities

(2011) Tiong Yang Tan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype

(2011) Aurore Brun et al.   European Journal of Medical Genetics

Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum

(2010) Caroline Rooryck et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2010) Jill K. Northup et al.   CLINICAL DYSMORPHOLOGY

Molecular mechanisms of cranial neural crest cell migration and patterning in craniofacial development

(2010) M. Minoux et al.   DEVELOPMENT

Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum

(2010) Caroline Rooryck et al.   European Journal of Medical Genetics

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

(2010) Xue-shuang Huang et al.   European Journal of Medical Genetics

1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay

(2010) Ahmed T. Abdelmoity et al.   European Journal of Medical Genetics

Genome-Wide Scanning Reveals Complex Etiology of Oculo-Auriculo-Vertebral Spectrum

(2010) Xue-Shuang Huang et al.   TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE

COMBINATION OF GOLDENHAR'S SYNDROME WITH THE CRI-DU-CHAT SYNDROME

(2009) Søren Ladekarl   ACTA OPHTHALMOLOGICA

Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2

(2009) M. Cristina Digilio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2009) Kara Goodin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2009) Siulan Vendramini-Pittoli et al.   CLINICAL DYSMORPHOLOGY

New directions in craniofacial morphogenesis

(2009) Heather L. Szabo-Rogers et al.   DEVELOPMENTAL BIOLOGY

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene

(2009) Caroline Rooryck et al.   European Journal of Medical Genetics

Epigenetic control of skull morphogenesis by histone deacetylase 8

(2009) M. Haberland et al.   GENES & DEVELOPMENT

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

(2008) Sirpa Ala-Mello et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication ofSIX1,SIX6, andOTX2resulting from a complex chromosomal rearrangement

(2008) Zhishuo Ou et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome

(2008) P. Callier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: Is this a candidate region for the syndrome?

(2008) J. Xu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Association of assisted reproductive technology with twinning and congenital anomalies

(2008) Sevim Balci et al.   INDIAN JOURNAL OF PEDIATRICS

The facial phenotype of the velo-cardio-facial syndrome

(2008) Sydney C. Butts   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY