Detalhe da pesquisa
1.
Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.
Genes Chromosomes Cancer
; 63(2): e23221, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38682608
2.
Germline pathogenic SMARCA4 variants in neuroblastoma.
J Med Genet
; 60(10): 987-992, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36813544
3.
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hum Mutat
; 20232023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38084291
4.
A systematic review of the prevalence of pathogenic or likely pathogenic germline variants in individuals with FOXO1 fusion-positive rhabdomyosarcoma.
Pediatr Blood Cancer
; 70(11): e30651, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37638828
5.
Cellular context determines DNA methylation profiles in SWI/SNF-deficient cancers of the gynecologic tract.
J Pathol
; 257(2): 140-145, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35218556
6.
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Hum Mutat
; 42(3): 223-236, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300245
7.
Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma.
JAMA
; 324(19): 1957-1969, 2020 11 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33201204
8.
Paediatric ovarian tumours and their associated cancer susceptibility syndromes.
J Med Genet
; 55(1): 1-10, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29175835
9.
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Hum Mutat
; 39(11): 1553-1568, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311375
10.
Case 35-2018: A Woman with Back Pain and a Remote History of Breast Cancer.
N Engl J Med
; 380(15): e22, 2019 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30970201
11.
Clinical, morphological and immunohistochemical evidence that small-cell carcinoma of the ovary of hypercalcaemic type (SCCOHT) may be a primitive germ-cell neoplasm.
Histopathology
; 70(7): 1147-1154, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28130795
12.
The McGill Interactive Pediatric OncoGenetic Guidelines: An approach to identifying pediatric oncology patients most likely to benefit from a genetic evaluation.
Pediatr Blood Cancer
; 64(8)2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28097779
13.
Recently characterized molecular events in uncommon gynaecological neoplasms and their clinical importance.
Histopathology
; 69(6): 903-913, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27504996
14.
Loss of SMARCA4 (BRG1) protein expression as determined by immunohistochemistry in small-cell carcinoma of the ovary, hypercalcaemic type distinguishes these tumours from their mimics.
Histopathology
; 69(5): 727-738, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27100627
15.
The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type.
Gynecol Oncol
; 141(3): 454-460, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26975901
16.
In Brief: Picturing the complex world of chromatin remodelling families.
J Pathol
; 237(4): 403-6, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26174723
17.
Biallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).
Pediatr Blood Cancer
; 62(4): 728-30, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25307865
18.
Ovarian sex cord-stromal tumors in patients with probable or confirmed germline DICER1 mutations.
Int J Gynecol Pathol
; 34(3): 266-74, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25844550
19.
Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again.
J Pathol
; 231(1): 35-43, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23775540
20.
Unusual Aspects of Small Cell Carcinoma of the Ovary of Hypercalcaemic Type: Retained SMARCA4 Immunohistochemical Staining and Positive Staining With TLE1.
Am J Surg Pathol
; 47(11): 1261-1266, 2023 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37345679