Results 61 to 70 of about 30,028 (235)

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, EarlyView.
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

Genetic screening for homozygous and heterozygous familial hypercholesterolemia

The Application of Clinical Genetics, 2010
Familial hypercholesterolemia (FH) is a common inherited disorder that results in premature atherosclerosis. Diagnosis of FH is suspected on the basis of clinical criteria, but confirmation requires genetic testing. In the era of statins, early diagnosis and initiation of treatment can modify disease progression and outcomes.
Izar,Maria C, Machado,Valéria A, Fonseca,Francisco   +2 more
openaire   +4 more sources

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

The power of many: when genetics met yeasts and high‐throughput

Biological Reviews, EarlyView.
ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley   +1 more source

Supravalvular and Valvular Aortic Stenosis in Heterozygous Familial Hypercholesterolemia [PDF]

Medical Principles and Practice, 2007
<i>Objectives:</i> To report calcified aortic stenosis due to hypercholesterolemia in two siblings. <i>Case Presentation and Intervention:</i> A 13-year-old boy with a history of dyspnea on exertion and a systolic murmur of aortic stenosis was referred to our center.
Sima, Rafeiyian, Saeed, Mojtahedzadeh, Manouchehr, Hekmat, Nasim, Naderi, Rezvan, Nobahar, Mohammah Jafar, Hashemi, Ali, Kouhi   +6 more
openaire   +2 more sources

Plasma Very‐Long‐Chain Fatty Acids in X‐Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort

Journal of Clinical Laboratory Analysis, EarlyView.
Plasma VLCFA levels are increased in symptomatic X‐linked adrenoleukodystrophy, particularly in patients with cerebral involvement. However, they do not reliably predict disease progression or longitudinal changes. These findings support their diagnostic value while highlighting the need for more robust prognostic biomarkers in clinical practice ...
Sergio Molina Blas, Sergio Pérez Pujalte, Ana Moreno Álvarez, Ana Isabel Álvarez Ríos, Beatriz Muñoz Cabello, Constanza Navarro Moreno, Ana Lucia Gómez Gila, Elena Dios Fuentes, Eva Venegas Moreno, Carmen Delgado Pecellín   +9 more
wiley   +1 more source

Utilidad de la ecografía de alta resolución en la valoración de la aterosclerosis preclínica, riesgo cardiovascular y diagnóstico de la hipercolesterolemia familiar [PDF]

, 2006
[spa] La presente tesis valora la utilidad de la ecografía carotídea de alta resolución, como técnica diagnóstica incruenta, útil, validada, reproducible y de bajo coste que nos permite:1.
Junyent Priu, Mireia
core  

A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR

Molecular Genetics & Genomic Medicine
Background Familial hypercholesterolemia (MIM: PS143890) is a genetic disorder characterized by an increase in blood cholesterol. LDLR is one of the genes which their defect contributes to the disorder.
Yongjun Song, Reham Abdel Haleem Abo Elwafa, Omneya Magdy Omar, Go Hun Seo, Hane Lee   +4 more
doaj   +1 more source

Primary coronary artery pseudoaneurysm in a patient with familial hypercholesterolemia

Clinical Case Reports, 2019
Rare primary coronary artery pseudoaneurysms in a young patient with heterozygous FH was successfully repaired with direct closure of intimal defects with aneurysmorrhaphy.
Toshiki Fujiyoshi, Masaki Kano, Hitoshi Ogino   +2 more
doaj   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source