Literature DB >> 27473476

Brittle Hair, Photosensitivity, Brain Hypomyelination and Immunodeficiency: Clues to Trichothiodystrophy.

Evangelia Farmaki1, Natalia Nedelkopoulou1, Florentina Delli2, Kosmas Sarafidis3, Dimitrios I Zafeiriou4.   

Abstract

Entities:  

Mesh：

Year:  2016        PMID： 27473476     DOI： 10.1007/s12098-016-2209-9

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


× No keyword cloud information.
  2 in total

Review 1.  Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.

Authors:  S Faghri; D Tamura; K H Kraemer; J J Digiovanna
Journal:  J Med Genet       Date:  2008-06-25       Impact factor: 6.318

Review 2.  New clinico-genetic classification of trichothiodystrophy.

Authors:  Fanny Morice-Picard; Muriel Cario-André; Hamid Rezvani; Didier Lacombe; Alain Sarasin; Alain Taïeb
Journal:  Am J Med Genet A       Date:  2009-09       Impact factor: 2.802
  2 in total
  3 in total

Review 1.  [Light protection for xeroderma pigmentosum].

Authors:  M Ettinger; M Berneburg
Journal:  Hautarzt       Date:  2017-05       Impact factor: 0.751

2.  Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs.

Authors:  Luciana Baptista Pereira; Neusa Yuriko Sakai Valente; Vanessa Barreto Rocha
Journal:  An Bras Dermatol       Date:  2018 Jan-Feb       Impact factor: 1.896

3.  Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

Authors:  Haoran Ji; Dongxiao Li; Ye Wu; Quanli Zhang; Qiang Gu; Han Xie; Taoyun Ji; Huifang Wang; Lu Zhao; Haijuan Zhao; Yanling Yang; Hongchun Feng; Hui Xiong; Jinhua Ji; Zhixian Yang; Liping Kou; Ming Li; Xinhua Bao; Xingzhi Chang; Yuehua Zhang; Li Li; Huijuan Li; Zhengping Niu; Xiru Wu; Jiangxi Xiao; Yuwu Jiang; Jingmin Wang
Journal:  PLoS One       Date:  2018-02-16       Impact factor: 3.240
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.