Associated Papers
De novo brain vascular malformation in an adult with hereditary hemorrhagic telangiectasia and juvenile polyposis overlap syndrome.
Guan E et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2024
An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes.
Gheewalla GM et al.
American Journal of Medical Genetics. Part A, 2022
Detection of circulating tumor DNA without a tumor-informed search using next-generation sequencing is a prognostic biomarker in pancreatic ductal adenocarcinoma.
Affolter KE et al.
Neoplasia (new York, N.y.), 2021
34298235 (PubMed )
Supplement: mmc1.docx
A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.
Hoyer K et al.
Ebiomedicine, 2021
33862582 (PubMed )
Supplement: mmc3.xlsx › S5
Lung cancer in never smokers from the Princess Margaret Cancer Centre.
Korpanty GJ et al.
Oncotarget, 2018
29854298 (PubMed )
Supplement: oncotarget-09-22559-s001.pdf
Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4.
Heald B et al.
American Journal of Medical Genetics. Part A, 2015
[Mutation analysis of the CHD7 gene in patients with congenital heart disease].
Qi Q et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
[Study on mutation of presenilin-1 gene in familial Alzheimer's disease].
Liu XY et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
Select a paper to view details