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

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

A K Ryan, Judith A. Goodship, David I. Wilson et al. · Journal of Medical Genetics · 1997 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A common molecular basis for rearrangement disorders on chromosome 22q11

Lisa Edelmann · Human Molecular Genetics · 1999 · 455 citations

Life Sciences, Genetics, Molecular Genetics +17

Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients

Regina Ensenauer, Adewale Adeyinka, Heather C. Flynn et al. · The American Journal of Human Genetics · 2003 · 381 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients

Beverly R. Rollnick, Celia I. Kaye, Konrad Nagatoshi et al. · American Journal of Medical Genetics · 1987 · 353 citations

Medicine, Maxillofacial Surgery, Craniofacial Surgery +11

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

Christiane Tasse, Stefan Böhringer, Sven Fischer et al. · European Journal of Medical Genetics · 2005 · 214 citations

Medicine, Ophthalmology, Radiology +8