Pattern of structural and functional brain abnormalities in asymptomatic granulin mutation carriers
M Pievani, D Paternicò, L Benussi… - Alzheimer's & …, 2014 - Wiley Online Library
… There were no differences between asymptomatic GRN mutation carriers and noncarriers
in functional connectivity within the major resting-state networks (P . .005, data not shown). …
in functional connectivity within the major resting-state networks (P . .005, data not shown). …
Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers
M Michels, OII Soliman, J Phefferkorn… - European heart …, 2009 - academic.oup.com
… both ECG and echocardiographic criteria were present to support the diagnosis of HCM.
The ECG alone lead to the diagnosis in 39% of the affected HCM mutation carriers. This is in …
The ECG alone lead to the diagnosis in 39% of the affected HCM mutation carriers. This is in …
DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriers
T Vaclová, G Gómez-López, F Setién… - Breast cancer research …, 2015 - Springer
… mutation carriers and non-carriers, we investigated the haploinsufficiency effects of various
mutation … Downstream effect analysis and network of differentially expressed genes between …
mutation … Downstream effect analysis and network of differentially expressed genes between …
BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research
SL Neuhausen, H Ozcelik, MC Southey… - Breast cancer research …, 2009 - Springer
… BRCA2 mutations was not supported as … Mutation testing in Ontario was supported in part
by Cancer Care Ontario. We wish to thank members of the Ontario Cancer Genetics Network …
by Cancer Care Ontario. We wish to thank members of the Ontario Cancer Genetics Network …
A social network analysis of communication about hereditary nonpolyposis colorectal cancer genetic testing and family functioning
LM Koehly, SK Peterson, BG Watts, KKG Kempf… - … Biomarkers & Prevention, 2003 - AACR
… mutations in mismatch repair genes (1). Clinical genetic testing for HNPCC can identify mutation
carriers … a multiplex relation between supportive relationships and communication about …
carriers … a multiplex relation between supportive relationships and communication about …
Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study
RN Alcalay, E Caccappolo, H Mejia-Santana… - Archives of …, 2010 - jamanetwork.com
… support the notion that even a single PRKN mutation is a risk of early-onset PD. In addition
to demographic differences among mutation carriers, we found that LRRK2 G2019S carriers …
to demographic differences among mutation carriers, we found that LRRK2 G2019S carriers …
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
AC Antoniou, AB Spurdle, OM Sinilnikova… - The American Journal of …, 2008 - cell.com
… BRCA2 mutation carriers, we genotyped these SNPs in a sample of 10,358 mutation carriers
… with increased breast cancer risk in BRCA2 mutation carriers (per-allele hazard ratio [HR] = …
… with increased breast cancer risk in BRCA2 mutation carriers (per-allele hazard ratio [HR] = …
Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: the patients' perspective
I Christiaans, IM Van Langen, E Birnie… - American journal of …, 2009 - Wiley Online Library
… Proven mutation carriers detected by predictive DNA testing … of 143 predictively tested
HCM mutation carriers on received … four carriers would rather not have known that they were a …
HCM mutation carriers on received … four carriers would rather not have known that they were a …
International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers
L Amar, K Pacak, O Steichen, SA Akker… - Nature Reviews …, 2021 - nature.com
… In the meantime, to ensure continued support, we are … For SDHA mutation carriers,
paragangliomas have been … asymptomatic SDHB mutation carriers than for carriers of mutations in …
paragangliomas have been … asymptomatic SDHB mutation carriers than for carriers of mutations in …
E-cadherin germline mutation carriers: clinical management and genetic implications
G Corso, J Figueiredo, R Biffi, C Trentin… - Cancer and Metastasis …, 2014 - Springer
… The management of CDH1 asymptomatic mutation carriers … have been described in CDH1
mutant carriers. However, the recent … of CDH1 germline mutant carriers providing specific …
mutant carriers. However, the recent … of CDH1 germline mutant carriers providing specific …