Detalhe da pesquisa
1.
A conserved motif in the disordered linker of human MLH1 is vital for DNA mismatch repair and its function is diminished by a cancer family mutation.
Nucleic Acids Res
; 51(12): 6307-6320, 2023 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37224528
2.
Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia.
Int J Gynecol Pathol
; 29(1): 33-8, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19952940
3.
Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature.
Eur J Med Genet
; 63(11): 104042, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32822873
4.
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors.
Cancer Genet Cytogenet
; 166(2): 124-9, 2006 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16631468
5.
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