Detalhe da pesquisa
1.
Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.
Eur J Hum Genet
; 16(1): 62-72, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17851451
2.
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC.
Eur J Hum Genet
; 16(7): 804-11, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18301449
3.
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
4.
Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation.
Eur J Hum Genet
; 15(1): 35-44, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17024214
5.
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