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1.
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.
Genet Med
; 22(9): 1524-1532, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32398773
2.
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes.
BMC Cancer
; 14: 661, 2014 Sep 11.
Article
in English
| MEDLINE | ID: mdl-25208626
3.
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
Genes (Basel)
; 9(4)2018 Apr 17.
Article
in English
| MEDLINE | ID: mdl-29673180
4.
The Role of Oxidative Stress in the Pathomechanism of Congenital Malformations.
Oxid Med Cell Longev
; 2018: 7404082, 2018.
Article
in English
| MEDLINE | ID: mdl-30693064
5.
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.
PLoS One
; 10(4): e0123092, 2015.
Article
in English
| MEDLINE | ID: mdl-25915946
6.
A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stage.
Hum Pathol
; 45(10): 2162-7, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25106712
7.
Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients.
Int J Biol Markers
; 27(4): e366-74, 2012 Dec 27.
Article
in English
| MEDLINE | ID: mdl-23125007
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