Literature DB >> 12070263

Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada.

J S Waye, L M Nakamura, B Eng, L Hunnisett, D Chitayat, T Costa, M J M Nowaczyk.   

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Year:  2002        PMID： 12070263      PMCID： PMC1735157          DOI： 10.1136/jmg.39.6.e31

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


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  7 in total

1.  Smith-Lemli-Opitz Mutations in Unexplained Stillbirths.

Authors:  Karen J Gibbins; Uma M Reddy; George R Saade; Robert L Goldenberg; Donald J Dudley; Corette B Parker; Vanessa Thorsten; Halit Pinar; Radek Bukowski; Carol J Hogue; Robert M Silver
Journal:  Am J Perinatol       Date:  2018-02-12       Impact factor: 1.862

Review 2.  Smith-Lemli-Opitz syndrome.

Authors:  Andrea E DeBarber; Yasemen Eroglu; Louise S Merkens; Anuradha S Pappu; Robert D Steiner
Journal:  Expert Rev Mol Med       Date:  2011-07-22       Impact factor: 5.600

3.  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

Review 4.  Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.

Authors:  Afraah Cassim; Dineshani Hettiarachchi; Vajira H W Dissanayake
Journal:  Orphanet J Rare Dis       Date:  2022-05-12       Impact factor: 4.303

5.  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

Review 6.  Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.

Authors:  M R Boland; N P Tatonetti
Journal:  Pharmacogenomics J       Date:  2016-07-12       Impact factor: 3.550

7.  Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health.

Authors:  Louise S Merkens; Christopher Wassif; Kristy Healy; Anuradha S Pappu; Andrea E DeBarber; Jennifer A Penfield; Rebecca A Lindsay; Jean-Baptiste Roullet; Forbes D Porter; Robert D Steiner
Journal:  Genet Med       Date:  2009-05       Impact factor: 8.822
  7 in total

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