Detalhe da pesquisa
1.
A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.
J Am Soc Nephrol
; 34(4): 706-720, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36753701
2.
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Genet Med
; 24(9): 1967-1977, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35674741
3.
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Genet Med
; 23(6): 1116-1124, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568805
4.
Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.
Acta Neuropathol
; 141(1): 101-116, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33025139
5.
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome.
Dermatol Online J
; 26(8)2020 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32941720
6.
The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome.
Respiration
; 98(2): 125-132, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31266032
7.
Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma.
J Neurooncol
; 137(1): 33-38, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29230670
8.
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.
Hum Mutat
; 38(1): 64-77, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27629256
9.
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.
Childs Nerv Syst
; 33(6): 933-940, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28365909
10.
Correction to: Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.
Acta Neuropathol
; 141(1): 117, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33112994
11.
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
Breast Cancer Res
; 17: 61, 2015 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25925750
12.
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.
Breast Cancer Res
; 16(6): 3419, 2014 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25857409
13.
Novel neurofibromatosis type 2 mutation presenting with status epilepticus.
Epileptic Disord
; 16(1): 132-7, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24667735
14.
Do We Need Fasting Prior to Coronary Angiography? The CORO-NF Randomized Pragmatic Study.
Am J Med
; 2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38336086
15.
MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.
Int J Cancer
; 132(5): 1060-9, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22865608
16.
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.
Am J Med Genet A
; 161A(3): 405-16, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401320
17.
Breast cancer: the first comparative evaluation of oncobiome composition between males and females.
Biol Sex Differ
; 14(1): 37, 2023 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37277847
18.
LZTR1 Mutation Mediates Oncogenesis through Stabilization of EGFR and AXL.
Cancer Discov
; 13(3): 702-723, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36445254
19.
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis.
Eur J Hum Genet
; 30(7): 812-817, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35361920
20.
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
Breast Cancer Res
; 13(6): R110, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22053997