Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
2.
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically.
Int J Mol Sci
; 24(11)2023 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37298193
3.
MiR-27a downregulates 14-3-3θ, RUNX1, AF4, and MLL-AF4, crucial drivers of blast transformation in t(4;11) leukemia cells.
Cell Biochem Funct
; 40(7): 706-717, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35981137
4.
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.
Int J Mol Sci
; 23(16)2022 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36012218
5.
Nuclear FGFR2 Interacts with the MLL-AF4 Oncogenic Chimera and Positively Regulates HOXA9 Gene Expression in t(4;11) Leukemia Cells.
Int J Mol Sci
; 22(9)2021 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33924850
6.
Kufor Rakeb syndrome without gaze palsy and pyramidal signs due to novel ATP13A2 mutations.
Neurol Sci
; 44(10): 3723-3725, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37306797
7.
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations.
Cancers (Basel)
; 15(4)2023 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36831560
8.
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
J Neurol
; 270(10): 5057-5063, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37418012
9.
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.
Orphanet J Rare Dis
; 18(1): 196, 2023 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37480080
10.
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement.
Genes (Basel)
; 12(2)2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33494189
11.
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome.
Eur J Med Genet
; 64(5): 104190, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33722742
12.
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.
PLoS One
; 15(8): e0237803, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32813700
13.
Crosstalk between 14-3-3θ and AF4 enhances MLL-AF4 activity and promotes leukemia cell proliferation.
Cell Oncol (Dordr)
; 42(6): 829-845, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31493143