Tag : familial

Cardiology

Bad Gene Hunting-Sudden Unexplained Death and Familial Long QT Syndrome.

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Related Articles Bad Gene Hunting-Sudden Unexplained Death and Familial Long QT Syndrome. JAMA Cardiol. 2020 04 01;5(4):375-376 Authors: Wallis KA PMID: 32101253 [PubMed – indexed...
Cardiology

A Polygenic Risk Score for Low-density Lipoprotein Cholesterol is Associated with Risk of Ischemic Heart Disease and Enriches for Individuals with Familial Hypercholesterolemia.

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Related Articles A Polygenic Risk Score for Low-density Lipoprotein Cholesterol is Associated with Risk of Ischemic Heart Disease and Enriches for Individuals with Familial Hypercholesterolemia....
Cardiology

The M310T mutation in the GATA4 gene is a novel pathogenic target of the familial atrial septal defect.

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Related Articles The M310T mutation in the GATA4 gene is a novel pathogenic target of the familial atrial septal defect. BMC Cardiovasc Disord. 2021 Jan...
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A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer's disease

Newsemia
Sepulveda-Falla, D; Chavez-Gutierrez, L; Portelius, E; Vélez, JI; Dujardin, S; Barrera-Ocampo, A; Dinkel, F; … Glatzel, M; + view all Sepulveda-Falla, D; Chavez-Gutierrez, L; Portelius,...
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Visuomotor integration deficits are common to familial and sporadic preclinical Alzheimer's disease

Newsemia
Lu, K; Nicholas, JM; Weston, PSJ; Stout, JC; O’Regan, AM; James, SN; Buchanan, SM; … Crutch, SJ; + view all Lu, K; Nicholas, JM; Weston,...
Cardiology

A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve.

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Related Articles A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve. Genet Mol Biol. 2020;43(4):e20200142...
AI/ML

NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.

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Related Articles NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance. Clin Endocrinol (Oxf). 2020 Dec 09;: Authors: Laan M, Kasak...
Cardiology

The familial and genetic contribution to the association between depression and cardiovascular disease: a twin cohort study.

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Related Articles The familial and genetic contribution to the association between depression and cardiovascular disease: a twin cohort study. Mol Psychiatry. 2020 Nov 20;: Authors:...
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Parents' Rights, Children's Religion: A Familial Relationship Goods Approach

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Swift, A; (2020) Parents’ Rights, Children’s Religion: A Familial Relationship Goods Approach. Journal of Practical Ethics (In press). Source link...
Neurology

A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia – A comprehensive mutational analysis-

Newsemia
Primary familial brain calcification (PFBC), traditionally described as Fahr’s disease or idiopathic basal ganglia calcification, is characterized by symmetric calcification in the basal ganglia and...
Cardiology

Hidden Burden of Electronic Health Record-Identified Familial Hypercholesterolemia: Clinical Outcomes and Cost of Medical Care.

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Related Articles Hidden Burden of Electronic Health Record-Identified Familial Hypercholesterolemia: Clinical Outcomes and Cost of Medical Care. J Am Heart Assoc. 2019 07 02;8(13):e011822 Authors:...
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Measuring cortical mean diffusivity to assess early microstructural cortical change in presymptomatic familial Alzheimer's disease

Newsemia
Weston, PSJ; Poole, T; Nicholas, JM; Toussaint, N; Simpson, IJA; Modat, M; Ryan, NS; … Fox, NC; + view all Weston, PSJ; Poole, T; Nicholas,...
Neurology

Mutation analysis of LRP10 in a large Chinese familial Parkinson disease cohort.

Newsemia
Mutation analysis of LRP10 in a large Chinese familial Parkinson disease cohort. Neurobiol Aging. 2020 Aug 27;: Authors: Li C, Chen Y, Ou R, Gu...

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