Detalhe da pesquisa
1.
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.
Hum Mutat
; 38(1): 64-77, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27629256
2.
Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients.
Tumori
; 95(6): 731-8, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-20210238
3.
Mutation analysis of oxisterol-binding-protein gene in patients with age-related macular degeneration.
Genet Test
; 11(4): 421-6, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-18294060
4.
Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements.
Hum Mutat
; 27(10): 1047-56, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16941473
5.
Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test.
J Neurol Sci
; 212(1-2): 75-8, 2003 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12810002
6.
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.
PLoS One
; 8(11): e81194, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24278394
7.
Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation.
Brain Pathol
; 21(2): 215-24, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21029238
8.
Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.
Int J Cancer
; 109(5): 680-4, 2004 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-14999774
9.
Granular cell tumor in a PHTS patient with a novel germline PTEN mutation.
Am J Med Genet A
; 120A(2): 286-8, 2003 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12833416
10.
Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients.
Am J Med Genet A
; 130A(1): 98-101, 2004 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15368504