Detalhe da pesquisa
1.
De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops.
J Med Genet
; 61(6): 549-552, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272662
2.
Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
Genet Med
; 26(6): 101105, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38430071
3.
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.
Hum Mol Genet
; 29(11): 1853-1863, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31960911
4.
Off-resonance saturation as an MRI method to quantify mineral- iron in the post-mortem brain.
Magn Reson Med
; 87(3): 1276-1288, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34655092
5.
Chromosome 3 and 8q Aberrations in Uveal Melanoma Show Greater Impact on Survival in Patients with Light Iris versus Dark Iris Color.
Ophthalmology
; 129(4): 421-430, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34780841
6.
Study protocol: effect of infection, Modic and inflammation on clinical outcomes in surgery for radiculopathy (EIMICOR).
BMC Neurol
; 21(1): 379, 2021 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34587899
7.
Structural heterogeneity and intersubject variability of Aß in familial and sporadic Alzheimer's disease.
Proc Natl Acad Sci U S A
; 115(4): E782-E791, 2018 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29311311
8.
Correction to: Disc inflammation and Modic changes show an interaction effect on recovery after surgery for lumbar disc herniation.
Eur Spine J
; 29(3): 646, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31893304
9.
Disc inflammation and Modic changes show an interaction effect on recovery after surgery for lumbar disc herniation.
Eur Spine J
; 28(11): 2579-2587, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31440895
10.
Histopathologic changes inside the lateral femoral cutaneous nerve obtained from patients with persistent symptoms of meralgia paresthetica.
Acta Neurochir (Wien)
; 161(2): 263-269, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30560377
11.
Cerebral Amyloid Angiopathy With Vascular Iron Accumulation and Calcification.
Stroke
; 49(9): 2081-2087, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30354978
12.
Post-mortem 7T MR imaging and neuropathology in middle stage juvenile-onset Huntington disease: A case report.
Neuropathol Appl Neurobiol
; 49(1): e12858, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36334065
13.
Brain histopathology in patients with systemic lupus erythematosus: identification of lesions associated with clinical neuropsychiatric lupus syndromes and the role of complement.
Rheumatology (Oxford)
; 56(1): 77-86, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28028157
14.
Loss of H3K27 tri-methylation is a diagnostic marker for malignant peripheral nerve sheath tumors and an indicator for an inferior survival.
Mod Pathol
; 29(6): 582-90, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26990975
15.
Tissue microchimerism is increased during pregnancy: a human autopsy study.
Mol Hum Reprod
; 21(11): 857-64, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307194
16.
PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.
Brain
; 137(Pt 5): 1361-73, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24722252
17.
Amyloid ß in hereditary cerebral hemorrhage with amyloidosis-Dutch type.
Rev Neurosci
; 25(5): 641-51, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24870607
18.
Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
Hum Mutat
; 34(11): 1486-9, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24000151
19.
Increased Histological Tumor Pigmentation in Uveal Melanoma Is Related to Eye Color and Loss of Chromosome 3/BAP1.
Ophthalmol Sci
; 3(3): 100297, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37193315
20.
Targeted DNA sequencing to identify genetic aberrations in glioblastoma that underlie venous thromboembolism; a cohort study.
Thromb Res
; 221: 10-18, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36435047