Associated Papers
Genotype-phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome.
Papadopulos ME et al.
Hereditary Cancer in Clinical Practice, 2023
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study.
Jelsig AM et al.
Journal of Medical Genetics, 2023
Distinct gastric phenotype in patients with pathogenic variants in SMAD4: A nationwide cross-sectional study.
Jelsig AM et al.
Endoscopy International Open, 2022
36531685 (PubMed )
Supplement: 2768supmat_10-1055-a-1954-0522.pdf
Genomic profiling is predictive of response to cisplatin treatment but not to PI3K inhibition in bladder cancer patient-derived xenografts.
Wei L et al.
Oncotarget, 2016
JP-HHT phenotype in Danish patients with SMAD4 mutations.
Jelsig AM et al.
Clinical Genetics, 2016
[Noonan syndrome can be diagnosed clinically and through molecular genetic analyses].
Henningsen MK et al.
Ugeskrift for Laeger, 2015
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
Waite KA et al.
Nature Reviews. Genetics, 2003
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.
Zhou XP et al.
American Journal of Human Genetics, 2001
Select a paper to view details