Detalhe da pesquisa
1.
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Am J Hum Genet
; 109(5): 944-952, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358416
2.
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
Genet Med
; 25(7): 100859, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092538
3.
Early detection of duodenal cancer by upper gastrointestinal-endoscopy in Lynch syndrome.
Int J Cancer
; 149(12): 2052-2062, 2021 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34331771
4.
Value of upper gastrointestinal endoscopy for gastric cancer surveillance in patients with Lynch syndrome.
Int J Cancer
; 148(1): 106-114, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32930401
5.
Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome.
Gastroenterology
; 158(5): 1326-1333, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31926173
6.
Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation.
Hum Mutat
; 41(6): 1171-1182, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112654
7.
Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics.
Int J Cancer
; 147(10): 2801-2810, 2020 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875553
8.
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Genet Med
; 22(9): 1569, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32690931
9.
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Genet Med
; 22(1): 15-25, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31337882
10.
Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study.
BMC Cancer
; 20(1): 460, 2020 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32448342
11.
No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies.
Gastroenterology
; 155(5): 1400-1409.e2, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30063918
12.
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.
Hered Cancer Clin Pract
; 17: 8, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30858900
13.
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.
Int J Cancer
; 143(11): 2800-2813, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29987844
14.
Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.
J Pediatr
; 187: 206-212.e1, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28529015
15.
Prevalence of BRCA1/2 germline mutations in 21â 401 families with breast and ovarian cancer.
J Med Genet
; 53(7): 465-71, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26928436
16.
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
Genet Med
; 18(4): 405-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26110232
17.
Trichorhinophalangeal syndrome type I: a novel mutation and Perthes-like changes of the hip in a family with 4 cases over 3 generations.
J Pediatr Orthop
; 35(1): e1-5, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25333908
18.
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
Hum Genet
; 133(7): 939-49, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24615390
19.
Human MSH6 deficiency is associated with impaired antibody maturation.
J Immunol
; 188(4): 2023-9, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22250089
20.
Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium.
J Med Genet
; 50(6): 360-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23564750