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Last Updated: 10/31/2025
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Found 605 publications
Contemporary Management of Familial and Multifactorial Chylomicronemia Syndromes in Italy: Insights From the National Lipigen Registry.
Journal: Arteriosclerosis, thrombosis, and vascular biology
Published: October 16, 2025
The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.
Journal: American journal of medical genetics. Part A
Published: July 10, 2025
Role of Histopathology of Skin Lesions in Diagnosing MAP2K1-Positive Cardiofaciocutaneous Syndrome.
Journal: The American Journal of dermatopathology
Published: June 26, 2025
Brief communication: Strong concordance of the North American Familial Chylomicronemia Syndrome Score with a positive genetic diagnosis in patients from the Balance study.
Journal: Journal of clinical lipidology
Published: June 07, 2025
Targeting cardiomyopathies associated with RASopathies: the role of mitogen-activated protein kinase inhibitors and therapeutic challenges.
Journal: Pharmacogenetics and genomics
Published: June 03, 2025
Course of Pregnancies and Occurrence of Acute Pancreatitis in Women with Chylomicronemia.
Journal: The Journal of clinical endocrinology and metabolism
Published: May 22, 2025
Recognition and management of persistent chylomicronemia: A joint expert clinical consensus by the National Lipid Association and the American Society for Preventive Cardiology.
Journal: American journal of preventive cardiology
Published: April 17, 2025
Advancing edge-based clustering and graph embedding for biological network analysis: a case study in RASopathies.
Journal: Briefings in bioinformatics
Published: March 19, 2025
A Drosophila model for Costello Syndrome caused by Ras mutation K117R.
Journal: bioRxiv : the preprint server for biology
Published: February 20, 2025
Antenatal diagnosis of lethal Costello syndrome: how fetal exome sequencing using NHS England's R21 pathway accelerated the diagnosis of non-immune hydrops and improved patient experience.
Journal: BMJ case reports
Published: February 14, 2025
Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.
Journal: Genetics in medicine open
Published: February 14, 2025
Last Updated: 10/31/2025