Literature DB >> 9450870

Smith-Lemli-Opitz syndrome in Japan.

M Tsukahara, K Fujisawa, K Yamamoto, M Hasui, C Saito, T Yamamaka, A Honda, M Honda, G S Tint, G Salen, J M Opitz.   

Abstract

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Year:  1998        PMID： 9450870

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  6 in total

Review 1.  The Smith-Lemli-Opitz syndrome.

Authors:  R I Kelley; R C Hennekam
Journal:  J Med Genet       Date:  2000-05       Impact factor: 6.318

2.  R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.

Authors:  Yoshiyuki Matsumoto; Ken-Ichi Morishima; Akira Honda; Shoji Watabe; Misa Yamamoto; Masayuki Hara; Masaki Hasui; Chikako Saito; Toshimitsu Takayanagi; Tsutomu Yamanaka; Nakamichi Saito; Hideaki Kudo; Nobuhiko Okamoto; Masato Tsukahara; Shinya Matsuura
Journal:  J Hum Genet       Date:  2005-07-26       Impact factor: 3.172

3.  Growth charts for individuals with Smith-Lemli-Opitz syndrome.

Authors:  Ryan W Y Lee; John McGready; Sandra K Conley; Nicole M Yanjanin; Małgorzata J M Nowaczyk; Forbes D Porter
Journal:  Am J Med Genet A       Date:  2012-05-21       Impact factor: 2.802

Review 4.  Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation.

Authors:  M J Nowaczyk; D T Whelan; T W Heshka; R E Hill
Journal:  CMAJ       Date:  1999-07-27       Impact factor: 8.262

5.  Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.

Authors:  Simona E Bianconi; Joanna L Cross; Christopher A Wassif; Forbes D Porter
Journal:  Expert Opin Orphan Drugs       Date:  2015-03       Impact factor: 0.694

6.  A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.

Authors:  Jae Sung Ko; Byung Sam Choi; Jeong Kee Seo; Jee Yeon Shin; Jong Hee Chae; Gyeong Hoon Kang; Ran Lee; Chang-Seok Ki; Jong-Won Kim
Journal:  J Korean Med Sci       Date:  2009-12-26       Impact factor: 2.153
  6 in total

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