Results 61 to 70 of about 284,051 (203)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

[Heterozygous familial hypercholesterolemia].

Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir, 2015
Heterozygous familial hypercholesterolemia (HeFH) is an autosomal co-dominant inherited disease associated with increased risk of early cardiovascular disease. Plasma low-density lipoprotein concentrations of the affected individuals are 2 to 3 times higher than the normal population.
Özgür Ulaş, Özcan, Sadi, Güleç
openaire   +1 more source

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 7, Page 431-440, October 2026.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1 ‐Related Noonan Syndrome

Clinical Genetics, Volume 110, Issue 4, Page 502-507, October 2026.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

Salivary cholesterol level does not reflect cholesterolemia in children with heterozygous familial hypercholesterolemia

, 2023
International audienceObjectivesHeterozygous familial hypercholesterolemia is a common genetic disease responsible for premature atherosclerosis. Therefore, early diagnosis and treatment are recommended to reduce cardiovascular risk.
Croyal, Mikael, Mathilde Di Filippo, Pierre Poinsot, Cédric Sage, Noel Peretti, Brignot, Hélène, Séverine Nony, Peretti, Noel, Poinsot, Pierre, Hélène Brignot, Nony, Séverine, Moulin, Philippe, Marianne Fricaudet, Feron, Gilles, Peron, Marie Anais, Rémi Duclaux Loras, Duclaux Loras, Rémi, Marie Anais Peron, Sybil Charriere, Mikael Croyal, Sage, Cédric, Di Filippo, Mathilde, Fricaudet, Marianne, Philippe Moulin, Gilles Feron, Charriere, Sybil   +25 more
core   +1 more source

PCSK9 inhibitor failure in a statin-intolerant FH patient with a novel LDLR variant: a case report

Frontiers in Cardiovascular Medicine
BackgroundApproximately 3.8 million patients in China suffer from familial hypercholesterolemia (FH). Statins and PCSK9 inhibitors are recommended by guidelines as therapeutic agents.
Yuan Li, Huiyan Jiang, Yajuan Xiong, Simin Yan, Xin Chen   +4 more
doaj   +1 more source

Metabolic Shifts Precede Cognitive Decline in the Male hAß‐KI Alzheimer's Mouse Model

The FASEB Journal, Volume 40, Issue 17, 15 September 2026.
A major barrier in Alzheimer's disease (AD) research is the lack of animals that recapitulate sporadic AD. The humanized amyloid‐beta knock‐in mice (hAß‐KI) exhibit age‐dependent cognitive decline and beta‐amyloid accumulation. However, limited research has been conducted related to AD risk factors and sex‐specific responses.
Evelin Melekh, Emma L. Cook, Julia G. Stante, Amélie A. T. Marais, Ahmad Mohammad, Shawn M. Beaudette, Wendy E. Ward, Val A. Fajardo, Rebecca E. K. MacPherson   +8 more
wiley   +1 more source

Patient with homozygous familial hypercholesterolemia: difficult to treat. Case report

, 2020
Homozygous familial hypercholesterolemia is a severe genetic disorder characterized by extremely high levels of total cholesterol and low-density lipoprotein cholesterol (LDL-C), as well as by rapid atherosclerosis progression in various vascular ...
Andrey V. Susekov, Irina V. Leontieva, Balakhonova T.V., Vladislav M. Soloviev, Irina M. Miklashevich, Yuliia S. Isaeva   +5 more
core   +1 more source

Inhibition of Tropomyosin Receptor Kinase B Signaling Alters Hepatic Mitochondrial Enzyme Activity and Oxidative Stress in Mice With Sucrose‐Induced Insulin Resistance

Journal of Biochemical and Molecular Toxicology, Volume 40, Issue 9, September 2026.
Suppression of BDNF‐TrkB signaling has shown a protective trend on hepatic oxidative stress by reducing sucrose‐induced lipid peroxidation. BDNF–TrkB signaling pathway plays a peripheral role in regulating mitochondrial enzyme capacity and redox balance in the liver.
Akın Bodur, Hüseyin Çınar Zihni, Katip Korkmaz, Solmaz Bodur, Ahmet Alver   +4 more
wiley   +1 more source

The treatment of heterozygous familial hypercholesterolemia — a local perspective

Endokrynologia Polska, 2021
none.
openaire   +3 more sources