Results 121 to 130 of about 7,332 (203)

Genes for blood pressure: an opportunity to understand hypertension [PDF]

, 2017
Hypertension (HTN) is quantitatively the major cardiovascular risk factor and responsible for ∼50% of cardiovascular morbidity and mortality. Blood pressure (BP) is also a classical complex genetic trait with heritability estimates of 30-50%.
Caulfield, Mark J., Ehret, Georg B.
core  

Resequencing the whole MYH7 gene (including the intronic, promoter, and 3´ UTR sequences) in hypertrophic cardiomyopathy [PDF]

, 2012
MYH7 mutations are found in approximately 20% of hypertrophic cardiomyopathy (HCM) patients. Currently, mutational analysis is based on the sequencing of the coding exons and a few exon-flanking intronic nucleotides resulting in omission of single exon ...
Alonso, Belén, Corao, A.I. (Ana), Coto, Eliecer, Díaz, Marta, Díaz-Molina, Beatriz, Gómez, Juan, Martín, María, Morales, Carlos, Morís, César, Palacín, María, Reguero, J.R. (Julián), Rodríguez-Lambert, J.L. (José), Tavira, Beatriz, Álvarez, Victoria   +13 more
core  

Association mapping from sequencing reads using k-mers [PDF]

, 2018
Genome wide association studies (GWAS) rely on microarrays, or more recently mapping of sequencing reads, to genotype individuals. The reliance on prior sequencing of a reference genome limits the scope of association studies, and also precludes mapping ...
Eisen, Michael, Hallgrímsdóttir, Ingileif, Pachter, Lior, Rahman, Atif   +3 more
core   +1 more source

Gitelman syndrome DD thiazide diuretics abuse

Open Medicine, 2014
Keller Karsten, Beule Johannes, Dippold Wolfgang   +2 more
doaj   +1 more source

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients [PDF]

, 2015

core   +1 more source

Two mutations in the thiazide-sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report

Therapeutics and Clinical Risk Management, 2018
Cristina Gug,1 Adelina Mihaescu,2 Ioana Mozos3,4 1Department of Microscopic Morphology, 22nd Department of Internal Medicine, 3Department of Functional Sciences, 4Center for Translational Research and Systems Medicine, “Victor Babes&rdquo ...
Gug C, Mihaescu A, Mozos I
doaj  

A novel variant of <i>SLC12A3</i> in Gitelman syndrome with hypertension: a case report. [PDF]

AME Case Rep
Zhang Y, Guo Z, Gai R, Zhou S, Xia L, Deng D.   +5 more
europepmc   +1 more source

Case Report: Gitelman syndrome with a suspected MEFV- associated autoinflammatory phenotype: diagnostic challenges in a complex case. [PDF]

Front Immunol
Li Y, Lu Y, Wang Y, Yang X, Zhang Q, Xie Y.   +5 more
europepmc   +1 more source

Gitelman syndrome in a pediatric patient: a case report and literature review. [PDF]

Front Pediatr
Sun T, Yang J, Luo J, Ma L.
europepmc   +1 more source

Case Report: Long-term follow-up of a schoolboy with Gitelman syndrome and epilepsy-causation or coincidence? [PDF]

Front Pediatr
Xue J, Zhang Y, Zhao H, Li F, Yang C, Yi Z, Liu K, Song Z.   +7 more
europepmc   +1 more source