Detalhe da pesquisa
1.
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
Int J Mol Sci
; 24(24)2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38139222
2.
Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3'-end.
J Med Genet
; 57(5): 356-360, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31591141
3.
Genetic Associations of Alexithymia in Predicting Interferon-Induced Depression in Chronic Hepatitis C.
Psychopathology
; 48(6): 417-20, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26609890
4.
Adipokine profile in celiac patients: differences in comparison with patients suffering from diarrhea-predominant IBS and healthy subjects.
Scand J Gastroenterol
; 48(12): 1377-85, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24164320
5.
Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutation.
Minerva Pediatr
; 70(6): 639-642, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29651829
6.
Tumor Testing and Genetic Analysis to Identify Lynch Syndrome Patients in an Italian Colorectal Cancer Cohort.
Cancers (Basel)
; 15(20)2023 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37894428
7.
Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication.
Am J Med Genet A
; 158A(7): 1713-8, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22639464
8.
Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors.
Genes (Basel)
; 13(4)2022 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456450
9.
APC Splicing Mutations Leading to In-Frame Exon 12 or Exon 13 Skipping Are Rare Events in FAP Pathogenesis and Define the Clinical Outcome.
Genes (Basel)
; 12(3)2021 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33670833
10.
PD-L1 expression in colorectal cancer defines three subsets of tumor immune microenvironments.
Oncotarget
; 9(9): 8584-8596, 2018 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29492219
11.
Characterization of a rare variant (c.2635-2A>G) of the MSH2 gene in a family with Lynch syndrome.
Int J Biol Markers
; : 1724600818766496, 2018 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29690800
12.
Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes.
Genes Dis
; 10(4): 1187-1189, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37397536
13.
A novel STK11 gene mutation (c.388dupG, p.Glu130Glyfs∗33) in a Peutz-Jeghers family and evidence of higher gastric cancer susceptibility associated with alterations in STK11 region aa 107-170.
Genes Dis
; 9(2): 288-291, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35224145
14.
Serotonin gene polymorphisms and lifetime mood disorders in predicting interferon-induced depression in chronic hepatitis C.
J Affect Disord
; 183: 90-7, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26001668
15.
Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III.
Am J Med Genet A
; 149A(8): 1837-41, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19610100
16.
Low presence of p53 abnormalities in H pylori-infected gastric mucosa and in gastric adenocarcinoma.
J Gastroenterol
; 38(1): 28-36, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-12560919
17.
Prenatal diagnosis of chromosome 4 mosaicism: prognostic role of cytogenetic, molecular, and ultrasound/MRI characterization.
Am J Med Genet A
; 136(1): 66-70, 2005 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15940687