Literature DB >> 11403039

SHOX point mutations in dyschondrosteosis.

C Huber, V Cusin, M Le Merrer, M Mathieu, V Sulmont, N Dagoneau, A Munnich, V Cormier-Daire.   

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Year:  2001        PMID： 11403039      PMCID： PMC1734877          DOI： 10.1136/jmg.38.5.323

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


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  8 in total

1.  Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.

Authors:  Hirohito Shima; Toshiaki Tanaka; Tsutomu Kamimaki; Sumito Dateki; Koji Muroya; Reiko Horikawa; Junko Kanno; Masanori Adachi; Yasuhiro Naiki; Hiroyuki Tanaka; Hiroyo Mabe; Hideaki Yagasaki; Shigeo Kure; Yoichi Matsubara; Toshihiro Tajima; Kenichi Kashimada; Tomohiro Ishii; Yumi Asakura; Ikuma Fujiwara; Shun Soneda; Keisuke Nagasaki; Takashi Hamajima; Susumu Kanzaki; Tomoko Jinno; Tsutomu Ogata; Maki Fukami
Journal:  J Hum Genet       Date:  2016-03-17       Impact factor: 3.172

2.  Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.

Authors:  Katja U Schneider; Nitin Sabherwal; Karin Jantz; Ralph Röth; Nadja Muncke; Werner F Blum; Gordon B Cutler; Gudrun Rappold
Journal:  Am J Hum Genet       Date:  2005-06-01       Impact factor: 11.025

3.  High incidence of SHOX anomalies in individuals with short stature.

Authors:  C Huber; M Rosilio; A Munnich; V Cormier-Daire
Journal:  J Med Genet       Date:  2006-04-05       Impact factor: 6.318

4.  Severe, atypical form of dyschondrosteosis (report of two cases).

Authors:  Tadeusz Bieganski; Krzysztof Bik; Valerie Cormier-Daire; Celine Huber; Grzegorz Nowicki; Kazimierz Kozlowski
Journal:  Eur J Pediatr       Date:  2005-06-10       Impact factor: 3.183

5.  Identification of a novel SHOX mutation in a Chinese family with isolated Madelung deformity.

Authors:  Libin Mei; Yanru Huang; Qian Pan; Haoxian Li; Desheng Liang; Lingqian Wu
Journal:  J Genet       Date:  2014-12       Impact factor: 1.166

6.  The Human Pseudoautosomal Region (PAR): Origin, Function and Future.

Authors:  A Helena Mangs; Brian J Morris
Journal:  Curr Genomics       Date:  2007-04       Impact factor: 2.236

Review 7.  A Track Record on SHOX: From Basic Research to Complex Models and Therapy.

Authors:  Antonio Marchini; Tsutomu Ogata; Gudrun A Rappold
Journal:  Endocr Rev       Date:  2016-06-29       Impact factor: 19.871

8.  Effectiveness of Chromosomal Microarray Analysis for Prenatal Diagnosis of Fetal Echogenic Intracardiac Focus: A Single-Center Experience.

Authors:  Hailong Huang; Meiying Cai; Linyu Liu; Liangpu Xu; Na Lin
Journal:  Int J Gen Med       Date:  2021-05-21
  8 in total

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