Literature DB >> 12794707

Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans.

Brooke S Wright, Ngozi A Nwokoro, Christopher A Wassif, Forbes D Porter, John S Waye, Barry Eng, Małgorzata J M Nowaczyk.   

Abstract

Mesh：

Year:  2003        PMID： 12794707     DOI： 10.1002/ajmg.a.10207

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  9 in total

Review 1.  Malformation syndromes caused by disorders of cholesterol synthesis.

Authors:  Forbes D Porter; Gail E Herman
Journal:  J Lipid Res       Date:  2010-10-07       Impact factor: 5.922

2.  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

3.  Adrenal function in Smith-Lemli-Opitz syndrome.

Authors:  Simona E Bianconi; Sandra K Conley; Meg F Keil; Ninet Sinaii; Kristina I Rother; Forbes D Porter; Constantine A Stratakis
Journal:  Am J Med Genet A       Date:  2011-10-11       Impact factor: 2.802

4.  Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.

Authors:  Grace Koo; Sandra K Conley; Christopher A Wassif; Forbes D Porter
Journal:  Am J Med Genet A       Date:  2010-08       Impact factor: 2.802

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 founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.

Authors:  Wayne A Cabral; Aileen M Barnes; Adebowale Adeyemo; Kelly Cushing; David Chitayat; Forbes D Porter; Susan R Panny; Fizza Gulamali-Majid; Sarah A Tishkoff; Timothy R Rebbeck; Serigne M Gueye; Joan E Bailey-Wilson; Lawrence C Brody; Charles N Rotimi; Joan C Marini
Journal:  Genet Med       Date:  2012-01-26       Impact factor: 8.822

7.  Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

Authors:  Gabriel A Lazarin; Imran S Haque; Eric A Evans; James D Goldberg
Journal:  Prenat Diagn       Date:  2017-03-09       Impact factor: 3.050

8.  Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern.

Authors:  Katharina Schoner; Martina Witsch-Baumgartner; Jana Behunova; Robert Petrovic; Rainer Bald; Susanne G Kircher; Annette Ramaswamy; Britta Kluge; Matthias Meyer-Wittkopf; Ralf Schmitz; Barbara Fritz; Johannes Zschocke; Franco Laccone; Helga Rehder
Journal:  Birth Defects Res       Date:  2019-12-16       Impact factor: 2.344

9.  PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.

Authors:  Yannis J Trakadis; Caroline Buote; Jean-François Therriault; Pierre-Étienne Jacques; Hugo Larochelle; Sébastien Lévesque
Journal:  BMC Med Genomics       Date:  2014-05-12       Impact factor: 3.063
  9 in total

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