Detalhe da pesquisa
1.
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Am J Hum Genet
; 110(4): 681-690, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996813
2.
Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV).
J Biol Chem
; 298(12): 102713, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36403858
3.
End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.
Ann Neurol
; 90(6): 962-975, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34606115
4.
Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.
Brain
; 144(9): 2616-2624, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34270682
5.
Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype.
Pediatr Dev Pathol
; 25(4): 435-446, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35382634
6.
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.
Prenat Diagn
; 42(5): 601-610, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150448
7.
An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.
JAMA Netw Open
; 7(4): e247034, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38630472
8.
Single-molecule DNA sequencing of acute myeloid leukemia and myelodysplastic syndromes with multiple TP53 alterations.
Haematologica
; 103(1): e13-e16, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29079597
9.
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication.
Neurol Genet
; 7(5): e609, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34532568
10.
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) - Still to be Considered in the Presence of Vascular Risk Factors.
Case Rep Neurol
; 12(Suppl 1): 196-201, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33505295
11.
Further refinement of COL4A1 and COL4A2 related cortical malformations.
Eur J Med Genet
; 61(12): 765-772, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30315939
12.
Analytical evaluation of point of care cTnT and clinical performances in an unselected population as compared with central laboratory highly sensitive cTnT.
Clin Biochem
; 48(4-5): 334-9, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25315142
13.
Evaluation of NM-BAPTA method for plasma total calcium measurement on Cobas 8000®.
Clin Biochem
; 47(7-8): 636-9, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24406301