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

A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family

(2012) Jeroen Knijnenburg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans

(2012) Fan Liu et al.   PLoS Genetics

Role of chromatin remodeling gene Cecr2 in neurulation and inner ear development

(2011) Christine E. Dawe et al.   DEVELOPMENTAL DYNAMICS

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

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

Cecr2 mutations causing exencephaly trigger misregulation of mesenchymal/ectodermal transcription factors

(2010) Nicholas A. Fairbridge et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Características clínicas de uma amostra de pacientes com a síndrome do olho do gato

(2010) Rafael Fabiano Machado Rosa et al.   Revista da Associacao Medica Brasileira

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

(2009) M. Cristina Digilio 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

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

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

Clinical variability of the 22q11.2 duplication syndrome

(2008) Christian Wentzel et al.   European Journal of Medical Genetics

A hereditary bisatellite-dicentric supernumerary chromosome in a case of Cat-eye Syndrome

(2008) GÜVEN LÜLECI et al.   HEREDITAS