Detalhe da pesquisa
1.
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.
J Mol Diagn
; 11(2): 131-9, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19196998
2.
Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.
Am J Med Genet A
; 146A(10): 1314-9, 2008 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18409202
3.
Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).
Hum Mutat
; 28(10): 985-92, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17486639
4.
A complex rearrangement in the APC gene uncovered by multiplex ligation-dependent probe amplification.
J Mol Diagn
; 9(1): 122-6, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17251345
5.
Absence of association between cyclin D1 (CCND1) G870A polymorphism and age of onset in hereditary nonpolyposis colorectal cancer.
Cancer Lett
; 236(2): 191-7, 2006 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-16832876
6.
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.
Hum Mutat
; 26(6): 513-9, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16287113
7.
Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.
Eur J Hum Genet
; 13(8): 983-6, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15870828
8.
Large genomic aberrations in MSH2 and MLH1 genes are frequent in Chinese colorectal cancer.
Cancer Genet Cytogenet
; 160(1): 61-7, 2005 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15949572
9.
A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1.
Hum Mutat
; 19(3): 279-86, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11857745
10.
Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.
Hum Mutat
; 24(5): 370-80, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15459959
11.
Arylamine N-acetyltransferase type 2 and glutathione S-transferases M1 and T1 polymorphisms in familial adenomatous polyposis.
Pharmacogenetics
; 12(1): 49-54, 2002 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-11773864
12.
Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis.
Eur J Hum Genet
; 12(1): 52-8, 2004 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-14523376
13.
Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test.
Am J Surg Pathol
; 26(3): 338-43, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11859205
14.
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.
Eur J Hum Genet
; 22(7): 923-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23361220
15.
Novel de novo mutation of MADH4/SMAD4 in a patient with juvenile polyposis.
Am J Med Genet
; 110(3): 289-91, 2002 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12116240
16.
Ten recently identified associations between nsSNPs and colorectal cancer could not be replicated in German families.
Cancer Lett
; 271(1): 153-7, 2008 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-18619730
17.
May the APC gene somatic mutations in tumor tissues influence the clinical features of Chinese sporadic colorectal cancers?
Acta Oncol
; 46(6): 757-62, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17653897
18.
Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome.
Acta Oncol
; 46(6): 763-9, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17653898
19.
Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?
Pediatr Blood Cancer
; 47(6): 811-8, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16317745
20.
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.
Int J Cancer
; 119(4): 807-14, 2006 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16557584