Results 81 to 90 of about 30,354 (250)

Variant Prioritization by Pedigree‐Based Haplotyping

Genetic Epidemiology, Volume 50, Issue 3, April 2026.
ABSTRACT Whole genome sequence (WGS) data provides opportunities for comprehensive evaluation of variants that may influence complex traits. However, prioritizing the large number of variants, particularly those in non‐coding regions, is a challenge.
Rafael A. Nafikov, Harkirat K. Sohi, Alejandro Q. Nato Jr., Andrea R. Horimoto, Tyler R. C. Day, Thomas D. Bird, Anita L. DeStefano, Elizabeth E. Blue, Ellen M. Wijsman   +8 more
wiley   +1 more source

Safety and Effectiveness of Low‐Density Lipoprotein Cholesterol–Lowering Therapy With Evolocumab for Familial Hypercholesterolemia/Hypercholesterolemia in Japan: A Real‐World, Postmarketing, Single‐Arm Study

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Evolocumab is the first monoclonal antibody against proprotein convertase subtilisin/kexin type 9 approved in Japan for familial hypercholesterolemia (FH) and hypercholesterolemia; however, data on its safety and effectiveness in the real ...
Koutaro Yokote, Junya Ako, Kazuo Kitagawa, Nobuhiro Osada, Feng Sheng, Masae Sonoda, Tamio Teramoto   +6 more
doaj   +1 more source

Homozygous familial hypercholesterolemia: case report of a rare cause of dyslipidemia Homozygotyczna rodzinna hipercholesterolemia. Opis przypadku dotyczący rzadkich przyczyn dyslipidemii [PDF]

Pediatric Endocrinology, Diabetes and Metabolism, 2011
A 4-year-old boy was evaluated for severe hypercholesterolemia (cholesterol: 831 mg/dL) and disseminated xanthomas. Both parents had hypercholesterolemia: mother (cholesterol: 308 mg/dL) and father (cholesterol: 281 mg/dL). There was no family history of
Cresio Alves, Zilda Braid
doaj  

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals. [PDF]

, 2018
Large-scale deep-coverage whole-genome sequencing (WGS) is now feasible and offers potential advantages for locus discovery. We perform WGS in 16,324 participants from four ancestries at mean depth >29X and analyze genotypes with four quantitative ...
Abecasis, Goncalo, Alver, Maris, Bloom, Jonathan M, Chaffin, Mark, Correa, Adolfo, Cupples, L Adrienne, Engreitz, Jesse M, Ernst, Jason, Esko, Tonu, Ganna, Andrea, Johnson, W Craig, Kathiresan, Sekar, Kellis, Manolis, Khera, Amit V, Lander, Eric S, Manichaikul, Ani, Mitchell, Braxton, Montasser, May, Natarajan, Pradeep, Neale, Benjamin M, NHLBI TOPMed Lipids Working Group, O'Connell, Jeffrey R, Peloso, Gina M, Perry, James A, Poterba, Timothy, Rich, Stephen S, Ripatti, Samuli, Rotter, Jerome I, Ruotsalainen, Sanni E, Salomaa, Veikko, Seed, Cotton, Surakka, Ida L, Vasan, Ramachandran S, Willer, Cristen J, Wilson, James G, Zekavat, Seyedeh Maryam, Zhou, Wei   +36 more
core   +2 more sources

Liver Transplantation for Homozygous Familial Hypercholesterolemia

Journal of Atherosclerosis and Thrombosis, 2019
Pharmacological treatments to decrease low-density lipoprotein (LDL) cholesterol (LDL-C) have limited effects on patients with homozygous familial hypercholesterolemia (HoFH). Since LDL receptors are located mainly in the liver, liver transplantation is considered to be the only way to correct the hepatic cholesterol metabolism abnormalities in HoFH ...
Ishigaki, Yasushi, Kawagishi, Naoki, Hasegawa, Yutaka, Sawada, Shojiro, Katagiri, Hideki, Satomi, Susumu, Oikawa, Shinichi   +6 more
openaire   +3 more sources

Sex differences in the presentation, treatment and outcomes of patients with homozygous familial hypercholesterolemia.

Journal of Clinical Lipidology
BACKGROUND Homozygous familial hypercholesterolemia (HoFH) is a rare, autosomal semi-dominant lipid metabolism disorder characterized by extremely high LDL-C levels and premature cardiovascular disease.
Z. Al-Baldawi, L. Brown, I. Ruel, A. Baass, J. Bergeron, L. Cermakova, P. Couture, D. Gaudet, Gordon A. Francis, R. Hegele, I. Iatan, G. Mancini, B. McCrindle, T. Ransom, Mark H. Sherman, Ruth Mcpherson, J. Genest, L. Brunham   +17 more
semanticscholar   +1 more source

Pregnancy in homozygous familial hypercholesterolemia—A case series

Therapeutic apheresis and dialysis, 2022
Familial hypercholesterolemia (FH) is an autosomal codominant lipid metabolism disorder. It results in lifelong elevation of plasmatic low‐density lipoprotein cholesterol (LDL‐C) levels, followed by premature atherosclerosis.
M. Bláha, Kateřina Veletová, V. Bláha, M. Lánská, P. Žák   +4 more
semanticscholar   +1 more source

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri‐Weill Dyschondrosteosis

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 606-618, March 2026.
ABSTRACT SHOX gene haploinsufficiency is associated with Léri‐Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS) and could be caused by the structural and point mutations in the coding region and by the deletions in SHOX gene regulatory sequences. The role of the duplications in regulatory sequences is ambivalent.
Valeriia Kopytko, Katerina Hirschfeldova, Pavlina Capkova, Roman Solc   +3 more
wiley   +1 more source

Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey

Orphanet Journal of Rare Diseases, 2021
Background Homozygous familial hypercholesterolemia (HoFH) is a rare life-threatening condition that represents a therapeutic challenge. The vast majority of HoFH patients fail to achieve LDL-C targets when treated with the standard protocol, which ...
L. D’Erasmo, A. Gallo, A. Cefalù, A. Di Costanzo, S. Saheb, A. Giammanco, M. Averna, A. Buonaiuto, G. Iannuzzo, G. Fortunato, Arturo Puja, T. Montalcini, C. Pavanello, L. Calabresi, G. Vigna, M. Bucci, K. Bonomo, F. Nota, T. Sampietro, F. Sbrana, P. Suppressa, C. Sabbà, F. Fimiani, A. Cesaro, P. Calabrò, S. Palmisano, S. D’Addato, L. Pisciotta, S. Bertolini, R. Bittar, O. Kalmykova, S. Béliard, A. Carrié, M. Arca, E. Bruckert   +34 more
semanticscholar   +1 more source

Increased incidence of mild cognitive impairment in long COVID patients

Alzheimer's &Dementia, Volume 22, Issue 3, March 2026.
Abstract INTRODUCTION Though brain fog is common in Long‐coronavirus disease 2019 (Long‐COVID), the incidence of mild cognitive impairment (MCI) is unknown. METHODS In an observational cohort study, recovered COVID‐positive, Long‐COVID, and COVID‐negative subjects underwent blinded evaluation using National Alzheimer's Coordinating Center (NACC) and ...
Jennifer A. Frontera, Arjun V. Masurkar, Rebecca A. Betensky, Zariya Alvarez, Allal Boutajangout, Joshua Chodosh, Salma Hammam, Jessica Hunter, Li Jiang, Melanie Li, Jon Links, Karyn Marsh, Huize Pang, Floyd Silva, Sujata Thawani, Daria Vasilchenko, Alok Vedvyas, Amin Yakubov, Yulin Ge, Thomas Wisniewski   +19 more
wiley   +1 more source