Concepedia

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

Veronica Parri, Eleni Katzaki, Vera Uliana, Francesca Scionti, Rossella Tita, Rosangela Artuso, Ilaria Longo, Renske Boschloo, Raymon Vijzelaar, Angelo Selicorni,

European Journal of Human Genetics · 2010 · 36 citations · 15 references

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15

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Jan P. Schouten · Nucleic Acids Research · 2002 · 2.7K citations · Full text

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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 · 376 citations · Full text

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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 · 258 citations

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Analysis of the human VPS13 gene family

Antonio Velayos‐Baeza, Andrea Vettori, Richard R. Copley et al. · Genomics · 2004 · 223 citations

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

Kate Chandler · Journal of Medical Genetics · 2003 · 167 citations · Full text

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