Results 41 to 50 of about 208,174 (208)

Genetic cause of pulmonary veno-occlusive disease

open access: yesLung India, 2022
Pulmonary veno-occlusive disease (PVOD) is an important cause of pulmonary arterial hypertension (PAH) and is classified under idiopathic cause of PAH. Over a period of time, PVOD has been studied in detail in the western countries and various diagnostic
Kaustubh Mohite, Anil Kumar Sapare
doaj   +1 more source

Polygenic risk score refines cardiovascular disease risk in individuals with type 2 diabetes at borderline or intermediate risk

open access: yesJournal of Diabetes Investigation
To evaluate whether a coronary artery disease (CAD) polygenic risk score (PRS) can improve atherosclerotic cardiovascular disease (ASCVD) risk stratification in individuals with type 2 diabetes (T2D), particularly those at borderline or intermediate 10 ...
Jaewon Choi   +4 more
doaj   +1 more source

Association of Genetic Variations in Energy Metabolism Genes with Noise-Induced Hearing Loss in a Chinese Population: A Case–Control Study

open access: yesNoise and Health
Objective: This study explored the relationship between susceptibility to single-nucleotide polymorphisms (SNP) and noise-induced hearing loss (NIHL) in a population exposed to occupational noise.
Bing Wang   +8 more
doaj   +1 more source

Genetic polymorphisms in lung disease: bandwagon or breakthrough?

open access: yesRespiratory Research, 2002
The study of genetic polymorphisms has touched every aspect of pulmonary and critical care medicine. We review recent progress made using genetic polymorphisms to define pathophysiology, to identify persons at risk for pulmonary disease and to predict ...
Rybicki Benjamin   +2 more
doaj   +1 more source

Identification of DICER1 Syndrome on the Basis of Familial, Early‐Onset Differentiated Thyroid Cancer

open access: yesClinical Case Reports
DICER1 syndrome encompasses a wide range of phenotypes, and not all individuals with DICER1 syndrome develop aggressive soft tissue tumors. DICER1 syndrome and other genetic conditions predisposing to the development of thyroid tumors should be ...
Jessica Y. Wong   +5 more
doaj   +1 more source

Agregación familiar en el síndrome de colon irritable en pacientes mexicanos. Un estudio de casos y controles

open access: yesAtención Primaria
Resumen: Objetivo: Determinar la existencia de un patrón familiar de agregación del síndrome de intestino irritable (SII). Diseño: Es un estudio de casos y controles con proporción 1:2, llevado a cabo en una consulta externa de medicina general-familiar.
José M. Ramírez Aranda   +4 more
doaj   +1 more source

Genetic Predisposition to SARS-CoV-2 Infection: Cytokine Polymorphism and Disease Transmission within Households

open access: yesBiology, 2023
We addressed the question of the influence of the molecular polymorphism of cytokines from different T helper subsets on the susceptibility to SARS-CoV-2 infection. From a cohort of 527 samples (collected from 26 May 2020 to 31 March 2022), we focused on
Marius Saal   +4 more
doaj   +1 more source

Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands.

open access: yes, 2004
Familial hypercholesterolemia (FH) is associated with pronounced atherosclerosis leading to premature cardiovascular disease and untimely death. Despite the availability of effective preventative drug treatments, many affected individuals remain ...
Umans-Eckenhausen, Marina A. W.   +14 more
core   +1 more source

Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy [PDF]

open access: yes, 2011
The aim of this study was to determine, through a genome-wide association study (GWAS), the genetic components contributing to different clinical sub-phenotypes of systemic sclerosis (SSc).
Kreuter, A   +607 more
core   +1 more source

Relationship between polymorphisms of DNA repair gene ERCC1 and susceptibility to lung cancer

open access: yesChinese Journal of Lung Cancer, 2008
Background and objective The recent studies have demonstrated that polymorphisms of DNA repair genes can impact the tumor susceptibility. So the susceptible group can be chosen through analysis of different genotype of DNA repair genes and maybe get the ...
Bo SU   +4 more
doaj  

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