Detalhe da pesquisa
1.
De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops.
J Med Genet
; 61(6): 549-552, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272662
2.
Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome.
Genes Chromosomes Cancer
; 63(5): e23237, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38722212
3.
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gastroenterology
; 164(4): 579-592.e8, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586540
4.
Enrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients.
BMC Cancer
; 24(1): 104, 2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38238650
5.
Relation between WHO Classification and Location- and Functionality-Based Classifications of Neuroendocrine Neoplasms of the Digestive Tract.
Neuroendocrinology
; 114(2): 120-133, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37690447
6.
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
Eur J Pediatr
; 183(1): 345-355, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37889289
7.
Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.
Mod Pathol
; 36(9): 100240, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37307877
8.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol
; 92(2): 304-321, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471564
9.
The coding microsatellite mutation profile of PMS2-deficient colorectal cancer.
Exp Mol Pathol
; 122: 104668, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34302852
10.
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
J Med Genet
; 57(4): 269-273, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31494577
11.
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.
J Med Genet
; 56(2): 53-62, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30415209
12.
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Hum Mutat
; 40(5): 649-655, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740824
13.
Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2.
Gastroenterology
; 155(3): 844-851, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29758216
14.
Correction: Putting genome-wide sequencing in neonates into perspective.
Genet Med
; 21(9): 2159-2164, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30464259
15.
Putting genome-wide sequencing in neonates into perspective.
Genet Med
; 21(5): 1074-1082, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287924
16.
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
Genet Med
; 21(12): 2706-2712, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31204389
17.
APC mosaicism, not always isolated: two first-degree relatives with apparently distinct APC mosaicism.
Gut
; 72(11): 2186-2187, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36307181
18.
Recurrent APC Splice Variant c.835-8A>G in Patients With Unexplained Colorectal Polyposis Fulfilling the Colibactin Mutational Signature.
Gastroenterology
; 159(4): 1612-1614.e5, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32603656
19.
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
20.
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Eur J Hum Genet
; 2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355961