Clinical and molecular characterization of Italian patients affected by Cohen syndrome

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

Juha Kolehmainen, Graeme C. Black, Anne Saarinen et al. · The American Journal of Human Genetics · 2003 · 373 citations · Full text

Cohen Syndrome Is, Molecular Physiology, Disease Mechanism +10

A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies

Maimon M. Cohen, Bryan D. Hall, David W. Smith et al. · The Journal of Pediatrics · 1973 · 257 citations

Down Syndrome, Clinical Disorders, Limb Anomalies +10

Analysis of the human VPS13 gene family

Antonio Velayos‐Baeza, Andrea Vettori, Richard R. Copley et al. · Genomics · 2004 · 220 citations

Genetics, Gene Characterization, Molecular Genetics +3

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

Kate Chandler · Journal of Medical Genetics · 2003 · 166 citations · Full text

Genetics, Genetic Epidemiology, Diagnosis +17

Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen

Juha Kolehmainen, Robert N. Wilkinson, Anna-Elina Lehesjoki et al. · The American Journal of Human Genetics · 2004 · 122 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3