Smith-Lemli-Opitz Syndrome Latest Advances

Find the Latest Research About Smith-Lemli-Opitz Syndrome

Last Updated: 06/30/2026

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Found 668 publications

Loss of 7-Dehydrocholesterol Reductase-mediated cholesterol biosynthesis activates IRF3 and inhibits control of Mycobacterium marinum infection.

Loss of 7-Dehydrocholesterol Reductase-mediated cholesterol biosynthesis activates IRF3 and inhibits control of Mycobacterium marinum infection.

Journal: bioRxiv : the preprint server for biology
Published: May 25, 2026

Integrating preconception carrier screening into public health: lessons learned from a pilot implementation study.

Integrating preconception carrier screening into public health: lessons learned from a pilot implementation study.

Journal: Journal of assisted reproduction and genetics
Published: December 27, 2025

Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts.

Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts.

Journal: Genes
Published: December 19, 2025

Reproductive Carrier Screening Detects Early Actionable Metabolic Conditions.

Reproductive Carrier Screening Detects Early Actionable Metabolic Conditions.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 12, 2025

Smith-Lemli-Opitz Syndrome (SLOS)-Case Description and the Impact of Therapeutic Interventions on Psychomotor Development.

Smith-Lemli-Opitz Syndrome (SLOS)-Case Description and the Impact of Therapeutic Interventions on Psychomotor Development.

Journal: Journal of clinical medicine
Published: October 16, 2025

Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

Journal: Journal of addiction medicine
Published: September 25, 2025

Pathophysiological significance of cholesterol in ciliopathies.

Pathophysiological significance of cholesterol in ciliopathies.

Journal: Fujita medical journal
Published: September 25, 2025

Unveiling a New Link: Cholesterol Deficiency in Smith-Lemli-Opitz and Niemann-Pick C as a Driver of Ciliopathies.

Unveiling a New Link: Cholesterol Deficiency in Smith-Lemli-Opitz and Niemann-Pick C as a Driver of Ciliopathies.

Journal: American journal of medical genetics. Part A
Published: September 23, 2025

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

Journal: Cureus
Published: August 24, 2025

Serum Vitamin A and Vitamin E Levels in Individuals With Smith-Lemli-Opitz Syndrome.

Serum Vitamin A and Vitamin E Levels in Individuals With Smith-Lemli-Opitz Syndrome.

Journal: American journal of medical genetics. Part A
Published: August 22, 2025

Macrophage signaling and function are regulated by distinct sterol biochemistries.

Macrophage signaling and function are regulated by distinct sterol biochemistries.

Journal: bioRxiv : the preprint server for biology
Published: August 20, 2025

Temporal transcriptomic changes during neurodevelopment in a mouse model of Smith-Lemli-Opitz syndrome.

Temporal transcriptomic changes during neurodevelopment in a mouse model of Smith-Lemli-Opitz syndrome.

Journal: The Journal of steroid biochemistry and molecular biology
Published: August 14, 2025
Showing 1-12 of 668

Last Updated: 06/30/2026