Literature DB >> 9445409

X-linked Wiskott-Aldrich syndrome in a girl.

O Parolini1, G Ressmann, O A Haas, J Pawlowsky, H Gadner, W Knapp, W Holter.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9445409     DOI： 10.1056/NEJM199801293380504

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


× No keyword cloud information.
  15 in total

Review 1.  The Wiskott-Aldrich syndrome.

Authors:  H D Ochs
Journal:  Clin Rev Allergy Immunol       Date:  2001-02       Impact factor: 8.667

Review 2.  Sex Chromosome Genetics '99. The X chromosome and recurrent spontaneous abortion: the significance of transmanifesting carriers.

Authors:  M C Lanasa; W A Hogge; E P Hoffman
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

3.  Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.

Authors:  R M Plenge; L Tranebjaerg; P K Jensen; C Schwartz; H F Willard
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

Review 4.  X-linked clonality testing: interpretation and limitations.

Authors:  George L Chen; Josef T Prchal
Journal:  Blood       Date:  2007-04-13       Impact factor: 22.113

5.  A novel Wiskott-Aldrich syndrome protein (WASP) complex mutation identified in a WAS patient results in an aberrant product at the C-terminus from two transcripts with unusual polyA signals.

Authors:  Nuria Andreu; Maricruz García-Rodríguez; Victor Volpini; Cecilia Frecha; Ignacio J Molina; Gumersindo Fontan; Cristina Fillat
Journal:  J Hum Genet       Date:  2005-12-22       Impact factor: 3.172

Review 6.  X chromosome inactivation in clinical practice.

Authors:  Karen Helene Orstavik
Journal:  Hum Genet       Date:  2009-04-25       Impact factor: 4.132

7.  A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.

Authors:  Xi Yang; Akihiro Hoshino; Takashi Taga; Tomoaki Kunitsu; Yuhachi Ikeda; Takahiro Yasumi; Kenichi Yoshida; Taizo Wada; Kunio Miyake; Takeo Kubota; Yusuke Okuno; Hideki Muramatsu; Yuichi Adachi; Satoru Miyano; Seishi Ogawa; Seiji Kojima; Hirokazu Kanegane
Journal:  J Clin Immunol       Date:  2015-03-07       Impact factor: 8.317

Review 8.  The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.

Authors:  Pierre Sinajon; Deborah Verbaan; Joyce So
Journal:  Hum Genet       Date:  2016-05-03       Impact factor: 4.132

9.  Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.

Authors:  Boonchai Boonyawat; Santhosh Dhanraj; Fahad Al Abbas; Bozana Zlateska; Eyal Grunenbaum; Chaim M Roifman; Leslie Steele; Stephen Meyn; Victor Blanchette; Stephen W Scherer; Sabina Swierczek; Josef Prchal; Qili Zhu; Troy R Torgerson; Hans D Ochs; Yigal Dror
Journal:  J Clin Immunol       Date:  2013-08-14       Impact factor: 8.317

10.  Case Report: Wiskott-Aldrich Syndrome Caused by Extremely Skewed X-Chromosome Inactivation in a Chinese Girl.

Authors:  Xuening Hou; Jie Sun; Chen Liu; Jihong Hao
Journal:  Front Pediatr       Date:  2021-07-08       Impact factor: 3.418
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.