Results 1 to 10 of about 8,942,317 (309)

A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report

open access: yesFrontiers in Oncology, 2023
The widespread adoption of gene panel testing for cancer predisposition is leading to the identification of an increasing number of individuals with clinically relevant allelic variants in two or more genes.
Mara Colombo   +8 more
doaj   +1 more source

Validation and recalibration of OxMIV in predicting violent behaviour in patients with schizophrenia spectrum disorders

open access: yesScientific Reports, 2022
Oxford Mental Illness and Violence (OxMIV) addresses the need in mental health services for a scalable, transparent and valid tool to predict violent behaviour in patients with severe mental illness. However, external validations are lacking.
Jelle Lamsma   +3 more
doaj   +1 more source

The association between intelligence scores and family history of psychiatric disorder in schizophrenia patients, their siblings and healthy controls. [PDF]

open access: yesPLoS ONE, 2013
BACKGROUND:The degree of intellectual impairment in schizophrenia patients and their relatives has been suggested to be associated with the degree of familial loading for schizophrenia. Since other psychiatric disorders are also more present in relatives
Kim H W Verweij   +2 more
doaj   +1 more source

Genetic risk [PDF]

open access: yesJournal of Community Genetics, 2012
In this paper I will review different aspects of genetic risk in the context of preconception care. I restrict myself to the knowledge of risk which is relevant for care and/or enables reproductive choice. The paper deals with chromosomes, genes and the genetic classification of diseases, and it explains why Mendelian disorders frequently do not show ...
openaire   +5 more sources

Correction: Cognitive Performance and Long-Term Social Functioning in Psychotic Disorder: A Three-Year Follow-Up Study. [PDF]

open access: yesPLoS ONE, 2018
[This corrects the article DOI: 10.1371/journal.pone.0151299.].
Claudia J P Simons   +3 more
doaj   +1 more source

Cognitive Performance and Long-Term Social Functioning in Psychotic Disorder: A Three-Year Follow-Up Study. [PDF]

open access: yesPLoS ONE, 2016
OBJECTIVE:Studies have linked cognitive functioning to everyday social functioning in psychotic disorders, but the nature of the relationships between cognition, social cognition, symptoms, and social functioning remains unestablished.
Claudia J P Simons   +3 more
doaj   +1 more source

The Genetics of Cancer Risk [PDF]

open access: yesThe Cancer Journal, 2011
One hundred years ago, decades before the discovery of the structure of DNA, debate raged regarding how human traits were passed from one generation to the next. Phenotypes, including risk of disease, had long been recognized as having a familial component.
Mark M, Pomerantz, Matthew L, Freedman
openaire   +2 more sources

Genetic risks and genetic model specification [PDF]

open access: yesJournal of Theoretical Biology, 2016
Genetic risks and genetic models are often used in design and analysis of genetic epidemiology studies. A genetic model is defined in terms of two genetic risk measures: genotype relative risk and odds ratio. The impacts of choosing a risk measure on the resulting genetic models are studied in the power to detect association and deviation from Hardy ...
Gang, Zheng   +5 more
openaire   +4 more sources

Expressive suppression in psychosis: The association with social context.

open access: yesPLoS ONE, 2020
As emotion regulation deficits have been implicated in psychotic disorders, it is imperative to investigate not only the effect of regulation strategies but also how they are used.
UnYoung Chavez-Baldini   +4 more
doaj   +1 more source

Dupuytren Diathesis and Genetic Risk [PDF]

open access: yesThe Journal of Hand Surgery, 2012
Dupuytren disease (DD) is a benign fibrosing disorder of the hand and fingers. Recently, we identified 9 single nucleotide polymorphisms (SNPs) associated with DD in a genome-wide association study. These SNPs can be used to calculate a genetic risk score for DD.
Dolmans, Guido H   +2 more
openaire   +3 more sources

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