Detalhe da pesquisa
1.
Functional assay for assessment of pathogenicity of BAP1 variants.
Hum Mol Genet
; 33(5): 426-434, 2024 Feb 18.
Artigo
Inglês
| MEDLINE | ID: mdl-37956408
2.
Population-based analysis of BAP1 germline variations in patients with uveal melanoma.
Hum Mol Genet
; 28(14): 2415-2426, 2019 07 15.
Artigo
Inglês
| MEDLINE | ID: mdl-31058963
3.
Identifying haplotypes in recessive inherited retinal dystrophies using whole-genome linked-read sequencing.
Clin Genet
; 99(1): 193-198, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32901921
4.
The microenvironment of proliferative diabetic retinopathy supports lymphatic neovascularization.
J Pathol
; 245(2): 172-185, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29536540
5.
Quantitative Proteomics Analysis of Vitreous Humor from Diabetic Retinopathy Patients.
J Proteome Res
; 14(12): 5131-43, 2015 Dec 04.
Artigo
Inglês
| MEDLINE | ID: mdl-26490944
6.
Mutation update: the spectra of nebulin variants and associated myopathies.
Hum Mutat
; 35(12): 1418-26, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25205138
7.
Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.
Acta Ophthalmol
; 102(3): 296-305, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-37289141
8.
Analysis of glaucoma genes in Finnish patients with juvenile open-angle glaucoma.
Acta Ophthalmol
; 101(7): 797-806, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37032519
9.
BAP1 germline variants in Finnish patients with malignant mesothelioma.
Lung Cancer
; 165: 102-107, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-35114507
10.
A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy.
Eur J Ophthalmol
; 32(4): NP61-NP66, 2022 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-33645289
11.
Germline loss-of-function variants in MBD4 are rare in Finnish patients with uveal melanoma.
Pigment Cell Melanoma Res
; 33(5): 756-762, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32421892
12.
In Vivo Corneal Confocal Microscopy and Histopathology of Keratitis Fugax Hereditaria From a Pathogenic Variant in NLRP3.
Am J Ophthalmol
; 213: 217-225, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32059980
13.
Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene.
Am J Ophthalmol
; 188: 41-50, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29366613
14.
Lymphatic endothelium stimulates melanoma metastasis and invasion via MMP14-dependent Notch3 and ß1-integrin activation.
Elife
; 72018 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29712618
15.
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
J Natl Cancer Inst
; 110(12): 1328-1341, 2018 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30517737
16.
A Case of Abnormal Lymphatic-Like Differentiation and Endothelial Progenitor Cell Activation in Neovascularization Associated with Hemi-Retinal Vein Occlusion.
Case Rep Ophthalmol
; 6(2): 228-38, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26327908
17.
Indications of lymphatic endothelial differentiation and endothelial progenitor cell activation in the pathology of proliferative diabetic retinopathy.
Acta Ophthalmol
; 93(6): 512-23, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25899460
18.
MMP16 Mediates a Proteolytic Switch to Promote Cell-Cell Adhesion, Collagen Alignment, and Lymphatic Invasion in Melanoma.
Cancer Res
; 75(10): 2083-94, 2015 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25808867