Results 91 to 100 of about 2,108 (140)

Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome. [PDF]

Am J Med Genet A, 2018
Dang Do AN, Baker EH, Warren KE, Bianconi SE, Porter FD.   +4 more
europepmc   +1 more source

[Smith-Lemli-Opitz syndrome].

Padiatrie und Padologie, 1972
H, Metzke, W, Lässig, H, Köhler
openaire   +3 more sources

Normal IQ is possible in Smith-Lemli-Opitz syndrome. [PDF]

Am J Med Genet A, 2017
Eroglu Y, Nguyen-Driver M, Steiner RD, Merkens L, Merkens M, Roullet JB, Elias E, Sarphare G, Porter FD, Li C, Tierney E, Nowaczyk MJ, Freeman KA.   +12 more
europepmc   +1 more source

Lipid-derived and other oxidative modifications of retinal proteins in a rat model of Smith-Lemli-Opitz syndrome. [PDF]

Exp Eye Res, 2019
Kapphahn RJ, Richards MJ, Ferrington DA, Fliesler SJ.   +3 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Mutational spectrum of Smith–Lemli–Opitz syndrome

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2012
AbstractSmith–Lemli–Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive malformation syndrome characterized by a large spectrum of morphogenic and congenital anomalies. SLOS is caused by mutations in the DHCR7 gene, which encodes 7‐dehydrocholesterol reductase, the enzyme that catalyzes the final step in cholesterol biosynthesis. We report on
Hans Waterham
exaly   +4 more sources

SMITH‐LEMLI‐OPITZ SYNDROME

Developmental Medicine & Child Neurology, 1968
SMITH, Lemli, and Opitz, in 1964,1reported three patients with mental retardation and a distinctive pattern of multiple congenital anomalies. Subsequently, seven additional patients have been described.2-5 Although four patients with this syndrome have died, no autopsy has been performed upon a patient in whom the diagnosis was made prospectively ...
R N, Fine, J L, Gwinn, E F, Young
openaire   +4 more sources

Brothers With Smith-Lemli-Opitz Syndrome

Journal of Pediatric Health Care, 2015
Abnormal cholesterol metabolism is the cause of SLOS, with low cholesterol levels and elevated levels of cholesterol precursors thought to contribute to the clinical findings in this syndrome. Management of SLOS involves early intervention with appropriate therapies for identified disabilities, genetic counseling for families, nutritional consultations,
Maria N. Kelly, Sanjeev Y. Tuli, Sonal S. Tuli, Mori A. Stern, Beverly P. Giordano   +4 more
openaire   +2 more sources

Cardiovascular malformations in Smith‐Lemli‐Opitz syndrome

American Journal of Medical Genetics, 1997
We reviewed 215 patients (59 new, 156 from the literature) with Smith-Lemli-Opitz syndrome (SLOS), and found that 95 (44%) had a cardiovascular malformation (CVM). Classifying CVMs by disordered embryonic mechanisms, there were 5 (5.3%) class 1 (ectomesenchymal tissue migration abnormalities), 56 (58.9%) class II (abnormal intracardiac blood flow), 25 (
A E, Lin, H H, Ardinger, R H, Ardinger, C, Cunniff, R I, Kelley   +4 more
openaire   +2 more sources