Search Results

Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank.

• Authors : Lassen FH; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK. Electronic address: .

Subjects: Phenotype* ; Biological Specimen Banks* ; Heterozygote*

• Source: Cell genomics [Cell Genom] 2024 Jul 10; Vol. 4 (7), pp. 100602. Date of Electronic Publication: 2024 Jun 28.Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 9918284260106676 Publication Model: Print-Electronic Cited Medium: Internet

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Thrombosis risk in single- and double-heterozygous carriers of factor V Leiden and prothrombin G20210A in FinnGen and the UK Biobank.

• Authors : Ryu J; Department of Medicine, Section of Hematology, Yale School of Medicine, New Haven, CT.; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA.

Subjects: Prothrombin*/Prothrombin*/Prothrombin*/genetics ; Factor V*/Factor V*/Factor V*/genetics ; Heterozygote*

• Source: Blood [Blood] 2024 Jun 06; Vol. 143 (23), pp. 2425-2432.Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020

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Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study.

• Authors : Reumers SFI; From the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neuromuscular Centre (F.B., U.S.-S.), University Hospital Essen, Germany

Subjects: Heterozygote*; Myopathies, Structural, Congenital/Myopathies, Structural, Congenital/Myopathies, Structural, Congenital/*genetics; Adult

• Source: Neurology [Neurology] 2021 Aug 03; Vol. 97 (5), pp. e501-e512. Date of Electronic Publication: 2021 May 19.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium:

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Current management of children and young people with heterozygous familial hypercholesterolaemia - HEART UK statement of care.

• Authors : Ramaswami U; Lysosomal Disorders Unit, Royal Free London NHS Foundation Trust, London, United Kingdom. Electronic address: .; Humphries SE

Subjects: Diet, Healthy* ; Heterozygote* ; Risk Reduction Behavior*

• Source: Atherosclerosis [Atherosclerosis] 2019 Nov; Vol. 290, pp. 1-8. Date of Electronic Publication: 2019 Sep 12.Publisher: Elsevier Country of Publication: Ireland NLM ID: 0242543 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1484

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Features of GBA -associated Parkinson's disease at presentation in the UK Tracking Parkinson's study.

• Authors : Malek N; Weil RS ...

Subjects: Heterozygote*; Cognitive Dysfunction/Cognitive Dysfunction/Cognitive Dysfunction/*epidemiology ; Dementia/Dementia/Dementia/*epidemiology

• Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2018 Jul; Vol. 89 (7), pp. 702-709. Date of Electronic Publication: 2018 Jan 29.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom.

• Authors : Battersby AC; Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom; Department of Paediatric Immunology, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom. Electronic address: .

Subjects: Autoimmunity* ; Genes, X-Linked* ; Heterozygote*

• Source: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2017 Aug; Vol. 140 (2), pp. 628-630.e6. Date of Electronic Publication: 2017 Mar 23.Publisher: Mosby Country of Publication: United States NLM ID: 1275002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6825

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Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

• Authors : Mavaddat N; Peock S ...

Subjects: Heterozygote* ; Mutation* ; Polymorphism, Single Nucleotide*

• Source: Journal of the National Cancer Institute [J Natl Cancer Inst] 2013 Jun 05; Vol. 105 (11), pp. 812-22. Date of Electronic Publication: 2013 Apr 29.Publisher: Oxford University Press Country of Publication: United States NLM ID: 7503089 Publication Model: Print-Electronic Cited Medium: Internet

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Informed choice in genetic screening for thalassaemia during pregnancy: audit from a national confidential inquiry.

• Authors : Modell B; Royal Free and University College London Medical School, Department of Primary Care and Population Sciences, Whittington Hospital, London N19 5NF, UK.; Harris R

Subjects: Genetic Services* ; Heterozygote* ; Informed Consent*

• Source: BMJ (Clinical research ed.) [BMJ] 2000 Feb 05; Vol. 320 (7231), pp. 337-41.Publisher: British Medical Association Country of Publication: England NLM ID: 8900488 Publication Model: Print Cited Medium: Print ISSN:

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Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia.

• Authors : Inskip HM; MRC Environmental Epidemiology Unit, University of Southampton, Southampton General Hospital, UK.; Kinlen LJ

Subjects: Heterozygote* ; Protein Serine-Threonine Kinases*; Ataxia Telangiectasia/Ataxia Telangiectasia/Ataxia Telangiectasia/*genetics

• Source: British journal of cancer [Br J Cancer] 1999 Mar; Vol. 79 (7-8), pp. 1304-7.Publisher: Nature Publishing Group on behalf of Cancer Research UK Country of Publication: England NLM ID: 0370635 Publication Model: Print Cited Medium:

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A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs.

• Authors : Mosher, Dana S.; Quignon, Pascale; Bustamante, Carlos D.

• Source: PLoS Genetics. May, 2007, Vol. 3 Issue 5, p779, 8 p.

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