Literature DB >> 9683618

RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis.

R I Kelley.   

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Year:  1998        PMID： 9683618      PMCID： PMC1377327          DOI： 10.1086/301987

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  10 in total

Review 1.  Monogenic dyslipidemias: window on determinants of plasma lipoprotein metabolism.

Authors:  R A Hegele
Journal:  Am J Hum Genet       Date:  2001-10-26       Impact factor: 11.025

Review 2.  Recent insights into the Smith-Lemli-Opitz syndrome.

Authors:  H Yu; S B Patel
Journal:  Clin Genet       Date:  2005-11       Impact factor: 4.438

Review 3.  The Smith-Lemli-Opitz syndrome.

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

4.  Retinal structure and function in an animal model that replicates the biochemical hallmarks of desmosterolosis.

Authors:  S J Fliesler; M J Richards; C Miller; N S Peachey; R J Cenedella
Journal:  Neurochem Res       Date:  2000-05       Impact factor: 3.996

Review 5.  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

6.  Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.

Authors:  I Blahakova; E Makaturova; L Kotrbova; M Soukupova; J Lastuvkova; L Kozak
Journal:  J Inherit Metab Dis       Date:  2007-11-12       Impact factor: 4.982

7.  Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.

Authors:  C Mueller; S Patel; M Irons; K Antshel; G Salen; G S Tint; C Bay
Journal:  Am J Med Genet A       Date:  2003-11-15       Impact factor: 2.802

8.  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

9.  Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome.

Authors:  Saloni Pasta; Omoye Akhile; Dorothy Tabron; Flora Ting; Cedric Shackleton; Gordon Watson
Journal:  Mol Genet Metab Rep       Date:  2015-09

10.  Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.

Authors:  Nicola Brunetti-Pierri; Gaetano Corso; Massimiliano Rossi; Paola Ferrari; Fiorella Balli; Francesco Rivasi; Ida Annunziata; Andrea Ballabio; Antonio Dello Russo; Generoso Andria; Giancarlo Parenti
Journal:  Am J Hum Genet       Date:  2002-08-20       Impact factor: 11.025
  10 in total

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