Detalhe da pesquisa
1.
Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC).
Fam Cancer
; 7(2): 163-72, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-17939062
2.
An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation.
Fam Cancer
; 6(3): 317-21, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17323113
3.
Development of a denaturing high-performance liquid chromatography screening method for SMAD4 in juvenile polyposis syndrome.
Ann Clin Biochem
; 44(Pt 2): 159-63, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17362581
4.
Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems.
Am J Med Genet A
; 155A(5): 1192-5, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21465662
5.
Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer.
Oncogene
; 21(12): 1928-33, 2002 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-11896626
6.
Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.
Fam Cancer
; 11(3): 509-18, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22773173
7.
Unusual presentation of Lynch Syndrome.
Hered Cancer Clin Pract
; 7(1): 12, 2009 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-19493351
8.
Autistic-like behaviour profile and psychiatric morbidity in Fragile X Syndrome: a prospective ten-year follow-up study.
Eur Child Adolesc Psychiatry
; 12(4): 172-7, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-14505067