Detalhe da pesquisa
1.
A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies.
Int J Mol Sci
; 23(24)2022 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36555557
2.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Ann Neurol
; 86(2): 225-240, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31187503
3.
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Elife
; 112022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36453528
4.
Deregulation of LRSAM1 expression impairs the levels of TSG101, UBE2N, VPS28, MDM2 and EGFR.
PLoS One
; 14(2): e0211814, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30726272
5.
Genetic Modifiers at the Crossroads of Personalised Medicine for Haemoglobinopathies.
J Clin Med
; 8(11)2019 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31717530
6.
LRSAM1 Depletion Affects Neuroblastoma SH-SY5Y Cell Growth and Morphology: The LRSAM1 c.2047-1G>A Loss-of-Function Variant Fails to Rescue The Phenotype.
Cell J
; 20(3): 340-347, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29845787
7.
IthaPhen: An Interactive Database of Genotype-Phenotype Data for Hemoglobinopathies.
Hemasphere
; 7(7): e922, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37359188
8.
A novel SLC30A10 missense variant associated with parkinsonism and dystonia without hypermanganesemia.
J Neurol Sci
; 418: 117101, 2020 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32866815
9.
A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.
Eur J Hum Genet
; 21(2): 190-4, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22781092