Detalhe da pesquisa
1.
Next-Generation Sequencing Reveals Potential Predictive Biomarkers and Targets of Therapy for Urothelial Carcinoma in Situ of the Urinary Bladder.
Am J Pathol
; 190(2): 323-332, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31734230
2.
HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.
Pediatr Nephrol
; 34(6): 1065-1075, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30666461
3.
ITIH5 as a multifaceted player in pancreatic cancer suppression, impairing tyrosine kinase signaling, cell adhesion and migration.
Mol Oncol
; 2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38375974
4.
Regression-based Deep-Learning predicts molecular biomarkers from pathology slides.
Nat Commun
; 15(1): 1253, 2024 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38341402
5.
Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features.
J Pediatr
; 161(5): 933-42, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22683032
6.
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
J Am Soc Nephrol
; 22(11): 2047-56, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22034641
7.
Molecular Characterization of Muellerian Tumors of the Urinary Tract.
Genes (Basel)
; 12(6)2021 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34200508
8.
SARS-CoV-2 RNA screening in routine pathology specimens.
Microb Biotechnol
; 14(4): 1627-1641, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33993637
9.
Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype.
PLoS One
; 15(3): e0230003, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32155193
10.
SWI/SNF Alterations in Squamous Bladder Cancers.
Genes (Basel)
; 11(11)2020 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33227989
11.
Pure high-grade papillary urothelial bladder cancer: a luminal-like subgroup with potential for targeted therapy.
Cell Oncol (Dordr)
; 43(5): 807-819, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32445084
12.
Correction: SNiPER: a novel hypermethylation biomarker panel for liquid biopsy based early breast cancer detection.
Oncotarget
; 11(30): 2958, 2020 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32774775
13.
Pan-cancer image-based detection of clinically actionable genetic alterations.
Nat Cancer
; 1(8): 789-799, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33763651
14.
SNiPER: a novel hypermethylation biomarker panel for liquid biopsy based early breast cancer detection.
Oncotarget
; 10(60): 6494-6508, 2019 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31741713
15.
Author Correction: Regression-based Deep-Learning predicts molecular biomarkers from pathology slides.
Nat Commun
; 15(1): 1868, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38424093
16.
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
Hum Mutat
; 28(6): 638-9, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17437276
17.
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.
Nat Genet
; 49(7): 1025-1034, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28530676
18.
Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1.
Neuromuscul Disord
; 26(2): 132-5, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26794302
19.
Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing.
PLoS One
; 10(4): e0123476, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25894969
20.
Author Correction: Pan-cancer image-based detection of clinically actionable genetic alterations.
Nat Cancer
; 1(11): 1129, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35122072