Detalhe da pesquisa
1.
U1 snRNP determines mRNA length and regulates isoform expression.
Cell
; 150(1): 53-64, 2012 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22770214
2.
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Am J Med Genet B Neuropsychiatr Genet
; : e32970, 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459409
3.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Genet Med
; 25(11): 100950, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551667
4.
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Clin Genet
; 99(3): 462-474, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368194
5.
A new mutation in DNM2 gene in a large Italian family.
Neurol Sci
; 42(6): 2509-2513, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33459893
6.
A pilot study of next generation sequencing-liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel-Trenaunay syndrome.
Vascular
; 29(1): 85-91, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32588787
7.
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
Int J Mol Sci
; 22(24)2021 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34948243
8.
Evidence of predisposing epimutation in retinoblastoma.
Hum Mutat
; 40(2): 201-206, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30427563
9.
Altered expression of RXFP1 receptor contributes to the inefficacy of relaxin-based anti-fibrotic treatments in systemic sclerosis.
Clin Exp Rheumatol
; 37 Suppl 119(4): 69-75, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31365333
10.
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome.
Exp Cell Res
; 368(2): 225-235, 2018 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29730163
11.
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome.
Hum Mutat
; 39(2): 302-314, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29098738
12.
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.
J Hum Genet
; 63(5): 563-568, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29531337
13.
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy.
Proc Natl Acad Sci U S A
; 110(48): 19348-53, 2013 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24191055
14.
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia.
Br J Haematol
; 184(4): 657-659, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460960
15.
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors.
Front Genet
; 14: 1213283, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37662840
16.
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy.
J Clin Med
; 11(13)2022 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35807022
17.
Digenic Alport Syndrome.
Clin J Am Soc Nephrol
; 17(11): 1697-1706, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35675912
18.
SPTBN5, Encoding the ßV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.
Front Mol Neurosci
; 15: 877258, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35782384
19.
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
J Neurol
; 269(1): 437-450, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34487232
20.
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design.
J Med Genet
; 47(12): 856-8, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20837492