Associated Papers
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf
Mutational spectrum of Smith-Lemli-Opitz syndrome.
Waterham HR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genes.
Marquis-Nicholson R et al.
Gene, 2011
Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.
Blahakova I et al.
Journal of Inherited Metabolic Disease, 2007
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.
Cardoso ML et al.
Molecular Genetics and Metabolism, 2005
Smith-Lemli-Opitz syndrome and the DHCR7 gene.
Jira PE et al.
Annals of Human Genetics, 2003
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
Witsch-Baumgartner M et al.
European Journal of Human Genetics : Ejhg, 2001
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.
De Brasi D et al.
European Journal of Human Genetics : Ejhg, 1999
Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.
Fitzky BU et al.
Proceedings of the National Academy of Sciences of the United States of America, 1998
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