A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases
The past decade has witnessed an explosion of evidence suggesting that many
neurodegenerative diseases can be detected years, if not decades, earlier than previously …
neurodegenerative diseases can be detected years, if not decades, earlier than previously …
Genetic counseling and testing for Huntington's disease: A historical review
MA Nance - American Journal of Medical Genetics Part B …, 2017 - Wiley Online Library
This manuscript describes the ways in which genetic counseling has evolved since John
Pearson and Sheldon Reed first promoted “a genetic education” in the 1950s as a voluntary …
Pearson and Sheldon Reed first promoted “a genetic education” in the 1950s as a voluntary …
Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington …
A Krause, C Mitchell, F Essop, S Tager… - American Journal of …, 2015 - Wiley Online Library
Huntington disease (HD) is a progressive autosomal dominant neurodegenerative disorder,
characterized by abnormal movements, cognitive decline, and psychiatric symptoms …
characterized by abnormal movements, cognitive decline, and psychiatric symptoms …
[HTML][HTML] Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes
FK Baine, C Kay, ME Ketelaar, JA Collins… - European Journal of …, 2013 - nature.com
Huntington disease (HD) is a neurodegenerative disorder resulting from the expansion of a
CAG trinucleotide repeat in the huntingtin (HTT) gene. Worldwide prevalence varies …
CAG trinucleotide repeat in the huntingtin (HTT) gene. Worldwide prevalence varies …
The spectrum of caregiving in palliative care for serious, advanced, rare diseases: key issues and research directions
LS Adams, JL Miller, PA Grady - Journal of palliative medicine, 2016 - liebertpub.com
Rare diseases are often life-limiting conditions, the majority of which require constant
caregiving needs. The realization of a spectrum of palliative care throughout the trajectory of …
caregiving needs. The realization of a spectrum of palliative care throughout the trajectory of …
Huntington disease: who seeks presymptomatic genetic testing, why and what are the outcomes?
TM Scuffham, JC MacMillan - Journal of genetic counseling, 2014 - Springer
The aims of this study were to: 1) quantify the characteristics of those seeking
presymptomatic testing for HD, 2) identify their motivations for testing, 3) quantify the waiting …
presymptomatic testing for HD, 2) identify their motivations for testing, 3) quantify the waiting …
Decision-making about prenatal genetic testing among pregnant Korean-American women
M Jun, V Thongpriwan, J Choi, KS Choi, G Anderson - Midwifery, 2018 - Elsevier
Objective to understand the prenatal genetic testing decision-making processes among
pregnant Korean-American women. Design a qualitative, descriptive research design …
pregnant Korean-American women. Design a qualitative, descriptive research design …
Genetic testing for Huntington disease
KA Quaid - Handbook of Clinical Neurology, 2017 - Elsevier
Abstract In 1983, Huntington disease (HD) became the first disease to be mapped to a
previously unknown location on chromosome 4. This discovery meant that we could now …
previously unknown location on chromosome 4. This discovery meant that we could now …
Factors related to genetic testing in adults at risk for Huntington disease: the prospective Huntington at‐risk observational study (PHAROS)
KA Quaid, SW Eberly, E Kayson‐Rubin… - Clinical …, 2017 - Wiley Online Library
Huntington disease (HD) is a late onset ultimately fatal neurodegenerative disorder caused
by a cytosine–adenine–guanine (CAG) triplet repeat expansion in the Huntingtin gene …
by a cytosine–adenine–guanine (CAG) triplet repeat expansion in the Huntingtin gene …
The uptake and outcome of prenatal and pre‐implantation genetic diagnosis for Huntington's disease in the Netherlands (1998–2008)
MC Van Rij, PAM de Koning Gans… - Clinical …, 2014 - Wiley Online Library
We aimed to study reproductive behaviour of couples opting for prenatal diagnosis (PND)
and pre‐implantation genetic diagnosis (PGD) for Huntington's disease (HD). In the …
and pre‐implantation genetic diagnosis (PGD) for Huntington's disease (HD). In the …