Detalhe da pesquisa
1.
Colorectal Neoplasia in CDH1 Pathogenic Variant Carriers: A Multicenter Analysis.
Am J Gastroenterol
; 117(11): 1877-1879, 2022 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36087100
2.
Preoperative Screening of Colorectal Cancers Is As Accurate As Postoperative Screening for Detection of Lynch Syndrome.
Clin Gastroenterol Hepatol
; 18(10): 2372-2374.e1, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32428707
3.
Schimke XLID syndrome results from a deletion in BCAP31.
Am J Med Genet A
; 182(9): 2168-2174, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681719
4.
Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery.
Am J Med Genet A
; 152A(6): 1531-5, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20503330
5.
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.
JAMA Netw Open
; 2(10): e1913900, 2019 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31642931
6.
The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review.
Am J Med Genet A
; 146A(1): 83-92, 2008 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17972300
7.
Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations.
Mol Genet Genomic Med
; 6(6): 1236-1242, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30152102
8.
Regarding cancer predisposition detected by CHG arrays.
Genet Med
; 13(11): 982; author reply 982-3, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22051689