Literature DB >> 15691367

COH1 analysis and linkage study in two Japanese families with Cohen syndrome.

I Kondo, A Shimizu, S Asakawa, K Miyamoto, H Yamagata, Y Tabara, N Shimizu.   

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Year:  2005        PMID： 15691367     DOI： 10.1111/j.1399-0004.2005.00396.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

1.  Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

Authors:  W Seifert; M Holder-Espinasse; S Spranger; M Hoeltzenbein; E Rossier; H Dollfus; D Lacombe; A Verloes; K H Chrzanowska; G H B Maegawa; D Chitayat; D Kotzot; D Huhle; P Meinecke; B Albrecht; I Mathijssen; B Leheup; K Raile; H C Hennies; D Horn
Journal:  J Med Genet       Date:  2006-05       Impact factor: 6.318

Review 2.  Discovery and Roles of ER-Endolysosomal Contact Sites in Disease.

Authors:  William Mike Henne
Journal:  Adv Exp Med Biol       Date:  2017       Impact factor: 2.622

3.  Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

Authors:  Salima El Chehadeh-Djebbar; Edward Blair; Muriel Holder-Espinasse; Anne Moncla; Anne-Marie Frances; Marlène Rio; François-Guillaume Debray; Patrick Rump; Alice Masurel-Paulet; Nadège Gigot; Patrick Callier; Laurence Duplomb; Bernard Aral; Frédéric Huet; Christel Thauvin-Robinet; Laurence Faivre
Journal:  Eur J Hum Genet       Date:  2012-11-28       Impact factor: 4.246
  3 in total

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