Predictive testing for Huntington's disease

A Tibben - Brain research bulletin, 2007 - Elsevier
Worldwide, predictive testing for Huntington's disease has become an accepted clinical
application that has allowed many individuals from HD-families to proceed with their life …

Genetic testing for familial/hereditary breast cancer—comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany

D Gadzicki, DG Evans, H Harris… - Journal of community …, 2011 - Springer
In this review, the national guidelines and recommendations for genetic testing for
familial/hereditary breast cancer from the UK, France, the Netherlands and Germany were …

[PDF][PDF] High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands

P Rizzu, JC Van Swieten, M Joosse… - The American Journal of …, 1999 - cell.com
Mutations in microtubule-associated protein tau recently have been identified in familial
cases of frontotemporal dementia (FTD). We report the frequency of tau mutations in a large …

Diagnostic genetic testing for Huntington's disease

D Craufurd, R MacLeod, M Frontali, O Quarrell… - Practical …, 2015 - pn.bmj.com
Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by a
combination of motor abnormalities (chorea, dystonia, hypokinesia), cognitive impairment …

[HTML][HTML] Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

W Dondorp, G De Wert, Y Bombard… - European Journal of …, 2015 - nature.com
This paper contains a joint ESHG/ASHG position document with recommendations
regarding responsible innovation in prenatal screening with non-invasive prenatal testing …

[PDF][PDF] Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study

I van Oostrom, H Meijers-Heijboer… - Journal of Clinical …, 2003 - researchgate.net
Purpose: To explore long-term psychosocial consequences of carrying a BRCA1/2 mutation
and to identify possible risk factors for long-term psychological distress. Patients and …

Impact of behavioural problems on spousal caregivers: a comparison between Alzheimer's disease and frontotemporal dementia

ME De Vugt, SR Riedijk, P Aalten, A Tibben… - Dementia and geriatric …, 2006 - karger.com
Background: Behavioural changes are a key factor in distinguishing frontotemporal
dementia (FTD) from Alzheimer's disease (AD), however, little is known about the impact of …

[PDF][PDF] Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey

BBA de Vries, AMW van den Ouweland… - The American Journal of …, 1997 - cell.com
The fragile X syndrome is an X-linked mental retardation disorder caused by an expanded
CGG repeat in the first exon of the fragile X mental retardation (FMR1) gene. Its frequency, X …

Body image issues after bilateral prophylactic mastectomy with breast reconstruction in healthy women at risk for hereditary breast cancer

JP Gopie, MAM Mureau, C Seynaeve, MM Ter Kuile… - Familial cancer, 2013 - Springer
The outcome of bilateral prophylactic mastectomy with breast reconstruction (BPM-IBR) in
healthy BRCA1/2 mutation carriers can be potentially burdensome for body image and the …

Psychological impact of receiving a BRCA1/BRCA2 test result

L Lodder, PG Frets, RW Trijsburg… - American journal of …, 2001 - Wiley Online Library
Mutation analysis for autosomal dominant hereditary breast/ovarian cancer genes
(BRCA1/BRCA2) became an important technique for women at risk of carrying these …