Literature DB >> 4717588

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

M M Cohen, B D Hall, D W Smith, C B Graham, K J Lampert.   

Abstract

Entities:  

Mesh：

Year:  1973        PMID： 4717588     DOI： 10.1016/s0022-3476(73)80493-7

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


× No keyword cloud information.
  42 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.  Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.

Authors:  Hans Christian Hennies; Anita Rauch; Wenke Seifert; Christian Schumi; Elisabeth Moser; Eva Al-Taji; Gholamali Tariverdian; Krystyna H Chrzanowska; Malgorzata Krajewska-Walasek; Anna Rajab; Roberto Giugliani; Thomas E Neumann; Katja M Eckl; Mohsen Karbasiyan; André Reis; Denise Horn
Journal:  Am J Hum Genet       Date:  2004-05-20       Impact factor: 11.025

4.  Cohen syndrome - a rare genetic cause of hypotonia in children.

Authors:  Magdalena Budisteanu; Diana Barca; Sorina Mihaela Chirieac; Sanda Magureanu
Journal:  Maedica (Buchar)       Date:  2010-01

5.  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

6.  Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance?

Authors:  A Khan; K Chandler; D Pimenides; G C M Black; F D C Manson
Journal:  Br J Ophthalmol       Date:  2006-03       Impact factor: 4.638

7.  Novel variant syndrome associated with congenital hepatic fibrosis.

Authors:  Yusuf Bayraktar; Ozlem Yonem; Kubilay Varlı; Hande Taylan; Ali Shorbagi; Cenk Sokmensuer
Journal:  World J Clin Cases       Date:  2015-10-16       Impact factor: 1.337

8.  Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

Authors:  Eleni Katzaki; Chiara Pescucci; Vera Uliana; Filomena Tiziana Papa; Francesca Ariani; Ilaria Meloni; Manuela Priolo; Angelo Selicorni; Donatella Milani; Rita Fischetto; Maria Elena Celle; Rita Grasso; Bruno Dallapiccola; Francesco Brancati; Marta Bordignon; Romano Tenconi; Antonio Federico; Francesca Mari; Alessandra Renieri; Ilaria Longo
Journal:  J Hum Genet       Date:  2007-11-08       Impact factor: 3.172

9.  Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth.

Authors:  Wenke Seifert; Jirko Kühnisch; Tanja Maritzen; Stefanie Lommatzsch; Hans Christian Hennies; Sebastian Bachmann; Denise Horn; Volker Haucke
Journal:  J Biol Chem       Date:  2014-12-09       Impact factor: 5.157

Review 10.  Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?

Authors:  Alejandro A Schäffer; Christoph Klein
Journal:  Curr Opin Allergy Clin Immunol       Date:  2007-12
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.