Literature DB >> 12210312

Does a Jewish type of Cohen syndrome truly exist?

K E Chandler, Jill Clayton-Smith.   

Abstract

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Year:  2002        PMID： 12210312     DOI： 10.1002/ajmg.10611

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  3 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

2.  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.

Authors:  Juha Kolehmainen; Graeme C M Black; Anne Saarinen; Kate Chandler; Jill Clayton-Smith; Ann-Liz Träskelin; Rahat Perveen; Satu Kivitie-Kallio; Reijo Norio; Mette Warburg; Jean-Pierre Fryns; Albert de la Chapelle; Anna-Elina Lehesjoki
Journal:  Am J Hum Genet       Date:  2003-05-02       Impact factor: 11.025

3.  Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

Authors:  Juha Kolehmainen; Robert Wilkinson; Anna-Elina Lehesjoki; Kate Chandler; Satu Kivitie-Kallio; Jill Clayton-Smith; Ann-Liz Träskelin; Laura Waris; Anne Saarinen; Jabbar Khan; Varda Gross-Tsur; Elias I Traboulsi; Mette Warburg; Jean-Pierre Fryns; Reijo Norio; Graeme C M Black; Forbes D C Manson
Journal:  Am J Hum Genet       Date:  2004-05-12       Impact factor: 11.025
  3 in total

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