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1.
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.
PLoS Genet
; 12(8): e1006242, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27494029
2.
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.
PLoS Genet
; 11(11): e1005637, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26540169
3.
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.
Hum Mol Genet
; 24(7): 1836-42, 2015 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-25432535
4.
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.
Hum Mol Genet
; 23(8): 2023-9, 2014 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24271014
5.
TSC1 involvement in bladder cancer: diverse effects and therapeutic implications.
J Pathol
; 230(1): 17-27, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23401075
6.
Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex.
Proc Natl Acad Sci U S A
; 108(45): E1070-9, 2011 Nov 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-22025691
7.
Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis.
Am J Respir Crit Care Med
; 187(6): 663-5, 2013 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-23504366
8.
Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.
BMC Med Genomics
; 10(1): 33, 2017 05 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-28526081
9.
BAP1 missense mutation c.2054 A>T (p.E685V) completely disrupts normal splicing through creation of a novel 5' splice site in a human mesothelioma cell line.
PLoS One
; 10(4): e0119224, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25830670
10.
Targeted deletion of Tsc1 causes fatal cardiomyocyte hyperplasia independently of afterload.
Cardiovasc Pathol
; 24(2): 80-93, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25434723
11.
Integrative analysis of 1q23.3 copy-number gain in metastatic urothelial carcinoma.
Clin Cancer Res
; 20(7): 1873-83, 2014 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24486590
12.
Identification of nine genomic regions of amplification in urothelial carcinoma, correlation with stage, and potential prognostic and therapeutic value.
PLoS One
; 8(4): e60927, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23593348
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