Associated Papers
Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort.
Despas L et al.
Journal of Medical Genetics, 2025
Utilization of genetic evaluation in patients with kidney cancer who meet guidelines for genetic referral.
Makarova E et al.
Urologic Oncology, 2025
A case of gastric-localized juvenile polyposis syndrome with SMAD4 mosaic variant presenting as a slowly progressive phenotype.
Fukuya H et al.
Clinical Journal of Gastroenterology, 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Phenotypic characterisation of SMAD4 variant carriers.
Caillot C et al.
Journal of Medical Genetics, 2024
SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.
Cao K et al.
Hereditary Cancer in Clinical Practice, 2023
TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.
Zhou Y et al.
Journal of Translational Medicine, 2023
Distinct gastric phenotype in patients with pathogenic variants in SMAD4: A nationwide cross-sectional study.
Jelsig AM et al.
Endoscopy International Open, 2022
Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.
Sherafati A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Genomic characteristics of invasive mucinous adenocarcinoma of the lung with multiple pulmonary sites of involvement.
Kim M et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers.
Blatter R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.
Nassar AH et al.
British Journal of Cancer, 2020
Targeted deep sequencing from multiple sources demonstrates increased NOTCH1 alterations in lung cancer patient plasma.
Liao Y et al.
Cancer Medicine, 2019
Development, technical validation, and clinical application of a multigene panel for hereditary gastrointestinal cancer and polyposis.
Ricci MT et al.
Tumori, 2019
39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual Meeting.
Boycott KM et al.
American Journal of Medical Genetics. Part A, 2019
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Henn J et al.
Hereditary Cancer in Clinical Practice, 2019
Clinicopathological characterization of SMAD4-mutated intestinal adenocarcinomas: A case-control study.
Liao X et al.
Plos One, 2019
Contribution of allelic imbalance to colorectal cancer.
Palin K et al.
Nature Communications, 2018
PTPRT and PTPRD Deleterious Mutations and Deletion Predict Bevacizumab Resistance in Metastatic Colorectal Cancer Patients.
Hsu HC et al.
Cancers, 2018
Novel Association of Juvenile Polyposis Syndrome With Atrial Septal Aneurysm and Patent Foramen Ovale: A Case Report.
Bruceta M et al.
A&a Practice, 2018
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.
Cheng DT et al.
Bmc Medical Genomics, 2017
A SMAD4 mutation indicative of juvenile polyposis syndrome in a family previously diagnosed with Menetrier's disease.
Burmester JK et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2016
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
Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.
Cragun D et al.
Clinical Genetics, 2014
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
LaDuca H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
Teekakirikul P et al.
American Journal of Medical Genetics. Part A, 2013
Gastric involvement in juvenile polyposis associated with germline SMAD4 mutations: an entity characterized by a mixed hypertrophic and polypoid gastropathy.
Pintiliciuc OG et al.
Gastroenterologie Clinique Et Biologique, 2008
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
Aretz S et al.
Journal of Medical Genetics, 2007
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.
Friedl W et al.
Human Genetics, 2002
[Hypertrophic and polypoid gastropathy associated with juvenile adenomatous polyposis coli].
Di Blasi A et al.
Pathologica, 2000
Giant Gastric Folds in Juvenile Polyposis.
Leonard NB et al.
Case Reports in Gastroenterology, 0