Associated Papers
SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.
Cao K et al.
Hereditary Cancer in Clinical Practice, 2023
Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.
Haefliger S et al.
Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023
36202073 (PubMed )
Supplement: pat-0090-0166-s01.pdf
Targeted sequencing reveals the mutational landscape responsible for sorafenib therapy in advanced hepatocellular carcinoma.
Tang J et al.
Theranostics, 2020
32373219 (PubMed )
Supplement: thnov10p5384s2.xlsx › S5-All_HCC_Mutations
Development, Implementation and Assessment of Molecular Diagnostics by Next Generation Sequencing in Personalized Treatment of Cancer: Experience of a Public Reference Healthcare Hospital.
Simarro J et al.
Cancers, 2019
31426418 (PubMed )
Supplement: cancers-11-01196-s001.pdf
Whole-genome sequencing and comprehensive molecular profiling identify new driver mutations in gastric cancer.
Wang K et al.
Nature Genetics, 2014
Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling.
Carr JC et al.
The Journal of Surgical Research, 2012
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
Caputo V et al.
American Journal of Human Genetics, 2012
SMAD4 immunohistochemistry reflects genetic status in juvenile polyposis syndrome.
Langeveld D et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2010
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
Gallione C et al.
American Journal of Medical Genetics. Part A, 2010
The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
Calva-Cerqueira D et al.
Clinical Genetics, 2009
Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.
van Hattem WA et al.
Gut, 2008
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
Howe JR et al.
Journal of Medical Genetics, 2004
Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.
Sayed MG et al.
Annals of Surgical Oncology, 2002
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