Results 51 to 60 of about 1,175,166 (233)

How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners. [PDF]

open access: yes, 2020
Genomic technologies are having an increasing impact across medicine, including primary care. To enable their wider adoption and realize their potential, education of primary health-care practitioners will be required.
Evans, WRH   +4 more
core   +2 more sources

The role of the genetic counsellor: a systematic review of research evidence [PDF]

open access: yes, 2014
In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and ...
B Meiser   +27 more
core   +1 more source

Clinical and Genetic Aspects of CADASIL [PDF]

open access: yesFrontiers in Aging Neuroscience, 2020
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary cerebral small vessel disease caused by mutations in NOTCH3, is characterized by recurrent stroke without vascular risk factors, mood disturbances, and dementia.
Mao Mukai   +4 more
openaire   +4 more sources

Alzheimer\u27s Disease and Down\u27s Syndrome: An Overview [PDF]

open access: yes, 2011
The association between Alzheimer\u27s Disease and Down\u27s Syndrome is well recognized through clinical observations and genetic studies. However, the exact nature and the implications of this link is far from clear as yet.
Desai, M.B.B.S., Dr.Devanshu
core   +1 more source

NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]

open access: yes, 2013
Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S   +2 more
core   +3 more sources

THE ROLE OF GENETICS IN MODERN MEDICINE

open access: yesБайкальский медицинский журнал, 2022
The lecture examines the role of modern genetics and its significance for medicine. The goals of genetics and its structure are determined. It is shown that modern medical genetics is divided into general genetics, clinical genetics and laboratory ...
Elena Anatolyevna Tkachuk   +1 more
doaj   +1 more source

Heritability of pain catastrophizing and associations with experimental pain outcomes: a twin study [PDF]

open access: yes, 2015
This study used a twin paradigm to examine genetic and environmental contributions to pain catastrophizing and the observed association between pain Catastrophizing and cold-pressor task (CPT) outcomes. Male and female monozygotic (n = 206) and dizygotic
Afari   +54 more
core   +2 more sources

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia

open access: yesiScience, 2022
Summary: Homozygous familial hypercholesterolemia (HoFH) is an extremely rare metabolism disorder usually caused by low-density lipoprotein receptor (LDLR) mutations.
Zhiyong Du   +8 more
doaj   +1 more source

BRCA2 polymorphic stop codon K3326X and the risk of breast, prostate, and ovarian cancers [PDF]

open access: yes, 2016
Background: The K3326X variant in BRCA2 (BRCA2*c.9976A>T; p.Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer.
Agnarsson, Bjarni A.   +252 more
core   +1 more source

Genetics and genomic medicine in Sri Lanka

open access: yesMolecular Genetics & Genomic Medicine, 2019
The completion of the Human Genome Project in 2003 heralded in a new era marked by remarkable advances in biomedical research leading to the establishment of genomics‐based translational medicine mainly in the developed world. However, the development of
Nirmala D. Sirisena   +1 more
doaj   +1 more source

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