Search details
1.
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
Am J Med Genet A
; 194(3): e63466, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37949664
2.
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Clin Genet
; 103(3): 288-300, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36353900
3.
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.
J Med Genet
; 59(2): 141-146, 2022 02.
Article
in English
| MEDLINE | ID: mdl-33208384
4.
An Unusual Enteric Yolk Sac Tumor: First Report of an Ovarian Germ Cell Tumor Associated With a Germline Pathogenic Variant in DICER1.
Int J Gynecol Pathol
; 41(4): 349-355, 2022 07 01.
Article
in English
| MEDLINE | ID: mdl-34380971
5.
Embryonal rhabdomyosarcoma of the uterine corpus: a clinicopathological and molecular analysis of 21 cases highlighting a frequent association with DICER1 mutations.
Mod Pathol
; 34(9): 1750-1762, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34017064
6.
Molecular characterization of DICER1-mutated pituitary blastoma.
Acta Neuropathol
; 141(6): 929-944, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33644822
7.
Significantly greater prevalence of DICER1 alterations in uterine embryonal rhabdomyosarcoma compared to adenosarcoma.
Mod Pathol
; 33(6): 1207-1219, 2020 06.
Article
in English
| MEDLINE | ID: mdl-31900434
8.
An update on the central nervous system manifestations of DICER1 syndrome.
Acta Neuropathol
; 139(4): 689-701, 2020 04.
Article
in English
| MEDLINE | ID: mdl-30953130
9.
Somatic tumour testing establishes that bilateral DICER1-associated ovarian Sertoli-Leydig cell tumours represent independent primary neoplasms.
Histopathology
; 77(2): 223-230, 2020 Aug.
Article
in English
| MEDLINE | ID: mdl-32333409
10.
Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes.
Hum Mutat
; 40(11): 1939-1953, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31342592
11.
Long-term tumour dormancy in a BRCA1 heterozygote.
J Med Genet
; 60(1): 33-35, 2023 01.
Article
in English
| MEDLINE | ID: mdl-35039446
12.
Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion.
Genes Chromosomes Cancer
; 57(5): 223-230, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29315962
13.
A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation?
Pediatr Blood Cancer
; 65(1)2018 Jan.
Article
in English
| MEDLINE | ID: mdl-28766837
14.
Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1.
J Med Genet
; 59(7): 723-726, 2022 07.
Article
in English
| MEDLINE | ID: mdl-34544839
15.
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.
Br J Cancer
; 116(12): 1621-1626, 2017 Jun 06.
Article
in English
| MEDLINE | ID: mdl-28524158
16.
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.
J Med Genet
; 53(1): 43-52, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26475046
17.
Infantile Pulmonary Teratoid Tumor.
N Engl J Med
; 378(23): 2238-2240, 2018 06 07.
Article
in English
| MEDLINE | ID: mdl-29874541
18.
Uterine Tumor Resembling Ovarian Sex Cord Tumor (UTROSCT) Commonly Exhibits Positivity With Sex Cord Markers FOXL2 and SF-1 but Lacks FOXL2 and DICER1 Mutations.
Int J Gynecol Pathol
; 35(4): 301-8, 2016 Jul.
Article
in English
| MEDLINE | ID: mdl-26598979
19.
Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8.
Acta Neuropathol
; 139(6): 1115-1118, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32124011
20.
Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome.
Genes Chromosomes Cancer
; 58(8): 602-604, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30597651