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Your Genetic Destiny: Know Your Genes, Secure your …

WebGenes are much in the news, creating curiosity, concern, hope, and confusion. “Contrary to what you might think, your genetic destiny is not preordained …

Actived: 7 days ago

URL: https://jmg.bmj.com/content/39/11/863

Variant reclassification and clinical implications Journal …

WebGenomic technologies have transformed clinical genetic testing, underlining the importance of accurate molecular genetic diagnoses. Variant classification, ranging from benign to …

Category: Health Go Health

Anderson-Fabry disease: clinical manifestations and …

WebOBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs. DESIGN …

Category: Health Go Health

Methodology in phenome-wide association studies: a …

WebPhenome-wide association study (PheWAS) has been increasingly used to identify novel genetic associations across a wide spectrum of phenotypes. This …

Category: Health Go Health

Genetics of bipolar disorder Journal of Medical Genetics

WebBipolar disorder (also known as manic depressive illness) is a complex genetic disorder in which the core feature is pathological disturbance in mood (affect) …

Category: Health Go Health

The role of single-cell genomics in human genetics

WebSingle-cell sequencing is a powerful approach that can detect genetic alterations and their phenotypic consequences in the context of human development, with cellular resolution. …

Category: Health Go Health

Ancestry, race and ethnicity: the role and relevance of …

WebBackground The terms ancestry, race and ethnicity are used variably within the medical literature and within society and clinical care. Biological lineage can provide an important …

Category: Medical Go Health

Genetic diagnosis of subfertility: the impact of meiosis …

WebDuring reproductive age, approximately one in seven couples are confronted with fertility problems. While the aetiology is diverse, including infections, metabolic diseases, …

Category: Health Go Health

Genetic complexity of diagnostically unresolved Ehlers …

WebBackground The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT), reclassified in the 2017 nosology into 13 subtypes. The genetic basis for …

Category: Health Go Health

Authors Journal of Medical Genetics

WebJournal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest …

Category: Medical Go Health

Diagnostic criteria for constitutional mismatch repair deficiency

WebBackground Constitutional mismatch repair deficiency syndrome (CMMRD) is the most aggressive cancer predisposition syndrome associated with multiorgan cancers, often …

Category: Cancer Go Health

Behavioural phenotype of Bardet-Biedl syndrome

WebBardet-Biedl syndrome (BBS), also known as Laurence-Moon-Bardet-Biedl syndrome (LMBBS), has long been regarded as an autosomal recessive condition but recent …

Category: Health Go Health

Update of penetrance estimates in Birt-Hogg-Dubé syndrome

WebBackground Birt-Hogg-Dubé (BHD) syndrome is a rare genetic syndrome caused by pathogenic or likely pathogenic germline variants in the FLCN gene. Patients with BHD …

Category: Health Go Health

The spectrum of Silver-Russell syndrome: a clinical and molecular

WebThe Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and …

Category: Health Go Health

Carriers of autosomal recessive conditions: are they really …

WebMendel’s Law of Dominance suggests that recessive disease expression requires the inheritance of two mutated alleles as the dominant, wildtype allele suppresses disease …

Category: Health Go Health

Ten years of presymptomatic testing for Huntington's disease: the

WebData on all presymptomatic genetic tests for Huntington's disease (HD) in the UK have been collected over the 10 year period since testing became available as a service. A total of …

Category: Health Go Health

Spectrum of LYST mutations in Chediak-Higashi syndrome: a …

WebIntroduction Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterised by partial oculocutaneous albinism, a bleeding diathesis, immunological …

Category: Health Go Health

Genetic burden linked to founder effects in Saguenay–Lac-Saint …

WebThe Saguenay–Lac-Saint-Jean (SLSJ) region located in the province of Quebec was settled in the 19th century by pioneers issued from successive migration waves starting in …

Category: Health Go Health

Inbreeding and risk of late onset complex disease

WebNumerous reports on the health effects of inbreeding have focused mainly on its impact on reproduction, childhood mortality, and rare Mendelian disorders. 2,3 For example, a …

Category: Health Go Health

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