Literature DB >> 11370633

Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family.

A R Janecke, K Unsinn, A Kreczy, I Baldissera, I Gassner, N Neu, G Utermann, T Müller.   

Abstract

Entities:  

Mesh：

Year:  2001        PMID： 11370633      PMCID： PMC1734852          DOI： 10.1136/jmg.38.4.265

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  5 in total

1.  The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Authors:  Andreas R Janecke; Ben Li; Manfred Boehm; Birgit Krabichler; Marianne Rohrbach; Thomas Müller; Irene Fuchs; Gretchen Golas; Yasuhiro Katagiri; Shira G Ziegler; William A Gahl; Yael Wilnai; Nicoletta Zoppi; Herbert M Geller; Cecilia Giunta; Anne Slavotinek; Beat Steinmann
Journal:  Am J Med Genet A       Date:  2015-09-16       Impact factor: 2.802

2.  Characteristics of patients with congenital clasped thumb: a prospective study of 40 patients with the results of treatment.

Authors:  Ahmed El-Naggar; Mohamad Hegazy; Atef Hanna; Yehia Tarraf; Samia Temtamy
Journal:  J Child Orthop       Date:  2007-10-17       Impact factor: 1.548

3.  Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.

Authors:  Munis Dündar; Thomas Müller; Qi Zhang; Jing Pan; Beat Steinmann; Julia Vodopiutz; Robert Gruber; Tohru Sonoda; Birgit Krabichler; Gerd Utermann; Jacques U Baenziger; Lijuan Zhang; Andreas R Janecke
Journal:  Am J Hum Genet       Date:  2009-12       Impact factor: 11.025

Review 4.  Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome.

Authors:  Tomoki Kosho; Shuji Mizumoto; Takafumi Watanabe; Takahiro Yoshizawa; Noriko Miyake; Shuhei Yamada
Journal:  Genes (Basel)       Date:  2019-12-29       Impact factor: 4.096

5.  Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Authors:  Mari Minatogawa; Ai Unzaki; Hiroko Morisaki; Delfien Syx; Tohru Sonoda; Andreas R Janecke; Anne Slavotinek; Nicol C Voermans; Yves Lacassie; Roberto Mendoza-Londono; Klaas J Wierenga; Parul Jayakar; William A Gahl; Cynthia J Tifft; Luis E Figuera; Yvonne Hilhorst-Hofstee; Alessandra Maugeri; Ken Ishikawa; Tomoko Kobayashi; Yoko Aoki; Toshihiro Ohura; Hiroshi Kawame; Michihiro Kono; Kosuke Mochida; Chiho Tokorodani; Kiyoshi Kikkawa; Takayuki Morisaki; Tetsuyuki Kobayashi; Takaya Nakane; Akiharu Kubo; Judith D Ranells; Ohsuke Migita; Glenda Sobey; Anupriya Kaur; Masumi Ishikawa; Tomomi Yamaguchi; Naomichi Matsumoto; Fransiska Malfait; Noriko Miyake; Tomoki Kosho
Journal:  J Med Genet       Date:  2021-11-23       Impact factor: 5.941
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.