Results 51 to 60 of about 2,108 (140)

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome

Journal of Lipid Research, 2006
The Smith-Lemli-Opitz syndrome (SLOS) is an often lethal birth defect resulting from mutations in the gene responsible for the synthesis of the enzyme 3β-hydroxy-steroid-Δ7-reductase, which catalyzes the reduction of the double bond at carbon 7 on 7 ...
Thomas N. Tulenko, Kathy Boeze-Battaglia, R. Preston Mason, G. Stephen Tint, Robert D. Steiner, William E. Connor, Edward F. Labelle   +6 more
doaj   +1 more source

Smith-Lemli-Opitz Syndrome [PDF]

Proceedings of the Royal Society of Medicine, 1969
L, Sinclair, M H, Winterborn, J, Brown
openaire   +2 more sources

Prenatal diagnosis of holoprosencephaly associated with Smith–Lemli–Opitz syndrome (SLOS) in a 46,XX fetus

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith–Lemli–Opitz syndrome (SLOS), after exclusion of chromosomal ...
André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa   +3 more
doaj   +1 more source

A talented giant: a tribute to the memory of John M. Opitz

Italian Journal of Pediatrics
Background John M. Opitz, a towering figure in both stature and scientific achievement, left an indelible mark on the fields of genetics, pediatrics, and embryology. Born in 1935 in Hamburg to a Jewish family, Opitz’s early life was marked by adversities.
Lorenzo Pavone, Giovanni Corsello, Martino Ruggieri   +2 more
doaj   +1 more source

Sterol balance in the Smith-Lemli-Opitz syndrome: reduction in whole body cholesterol synthesis and normal bile acid production

Journal of Lipid Research, 2000
The Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation/mental retardation syndrome caused by a deficiency of the enzyme 7-dehydrocholesterol Δ7-reductase.
Robert D. Steiner, Leesa M. Linck, Donna P. Flavell, Don S. Lin, William E. Connor   +4 more
doaj   +1 more source

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome

Molecular Genetics & Genomic Medicine
Background Smith‐Lemli‐Opitz syndrome (SLOS) is a common autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene, resulting in a deficiency of the enzyme 7‐dehydrocholesterol reductase.
Júlia Martinková, Emílie Vyhnálková, Martin Schwarz, Miroslava Balaščaková, Veronika Biddle, Romana Borská, Lenka Fajkusová, Lukáš Ryba, Anna Křepelová   +8 more
doaj   +1 more source

Auditory phenotype of Smith-Lemli-Opitz syndrome. [PDF]

Am J Med Genet A, 2021
Zalewski CK, Sydlowski SA, King KA, Bianconi S, Dang Do A, Porter FD, Brewer CC.   +6 more
europepmc   +1 more source

Temporal changes in the brain lipidome during neurodevelopment of Smith-Lemli-Opitz syndrome mice. [PDF]

Analyst, 2022
Li A, Hines KM, Ross DH, MacDonald JW, Xu L.   +4 more
europepmc   +1 more source

Measurement of 7-dehydrocholesterol and cholesterol in hair can be used in the diagnosis of Smith-Lemli-Opitz syndrome. [PDF]

J Lipid Res, 2022
Luo Y, Zhang C, Ma L, Zhang Y, Liu Z, Chen L, Wang R, Luan Y, Rao Y.   +8 more
europepmc   +1 more source

A Case of Smith-Lemli-Opitz Syndrome Diagnosed with Hypertrophic Pyloric Stenosis. [PDF]

Sisli Etfal Hastan Tip Bul, 2021
Eren EE, Bilgin N, Urganci N, Kose G.
europepmc   +1 more source