Detalhe da pesquisa
1.
Novel autophagic vacuolar myopathies: Phenotype and genotype features.
Neuropathol Appl Neurobiol
; 47(5): 664-678, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33393119
2.
ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.
Am J Hum Genet
; 98(2): 275-86, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26849110
3.
Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone.
Biochim Biophys Acta Mol Basis Dis
; 1864(1): 143-151, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28993189
4.
The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagnosis in this location.
BMC Cancer
; 18(1): 358, 2018 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29609578
5.
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix.
J Med Genet
; 54(10): 710-720, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28735299
6.
Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function.
Biochim Biophys Acta
; 1842(7): 992-1000, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24642144
7.
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.
Hum Mol Genet
; 22(18): 3654-66, 2013 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23686279
8.
Association of a GRIA3 gene polymorphism with migraine in an Australian case-control cohort.
Headache
; 53(8): 1245-9, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23772601
9.
A mutation in the ZNF687 gene that is responsible for the severe form of Paget's disease of bone causes severely altered bone remodeling and promotes hepatocellular carcinoma onset in a knock-in mouse model.
Bone Res
; 11(1): 16, 2023 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36918542
10.
Profilin 1 deficiency drives mitotic defects and reduces genome stability.
Commun Biol
; 6(1): 9, 2023 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599901
11.
The melatonin receptor 1A (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis.
Nephrol Dial Transplant
; 27(1): 210-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21652546
12.
The Osteoclast Traces the Route to Bone Tumors and Metastases.
Front Cell Dev Biol
; 10: 886305, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35646939
13.
Modulation of Endocannabinoid Tone in Osteoblastic Differentiation of MC3T3-E1 Cells and in Mouse Bone Tissue over Time.
Cells
; 10(5)2021 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34068882
14.
Identification of sixteen novel candidate genes for late onset Parkinson's disease.
Mol Neurodegener
; 16(1): 35, 2021 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34148545
15.
Early Alpine occupation backdates westward human migration in Late Glacial Europe.
Curr Biol
; 31(11): 2484-2493.e7, 2021 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33887180
16.
Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility.
BMC Med Genet
; 11: 103, 2010 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-20579352
17.
The two faces of giant cell tumor of bone.
Cancer Lett
; 489: 1-8, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32502498
18.
The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone.
J Bone Miner Res
; 35(8): 1387-1398, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31991009
19.
ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology.
J Bone Miner Res
; 35(10): 1974-1980, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32106343
20.
DDX11L: a novel transcript family emerging from human subtelomeric regions.
BMC Genomics
; 10: 250, 2009 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-19476624