Detalhe da pesquisa
1.
Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy.
Hum Mol Genet
; 31(11): 1884-1908, 2022 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35094084
2.
Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.
Int J Mol Sci
; 23(6)2022 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35328505
3.
The Chromatin-Oxygen Sensor Gene KDM5C Associates with Novel Hypoxia-Related Signatures in Glioblastoma Multiforme.
Int J Mol Sci
; 23(18)2022 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36142158
4.
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.
Hum Mol Genet
; 28(24): 4089-4102, 2019 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31691806
5.
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.
Am J Hum Genet
; 92(1): 114-25, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23246292
6.
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.
Hum Mutat
; 35(2): 165-77, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24339369
7.
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.
Hum Mol Genet
; 21(6): 1260-71, 2012 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22121116
8.
Suberoylanilide Hydroxamic Acid (SAHA) Is a Driver Molecule of Neuroplasticity: Implication for Neurological Diseases.
Biomolecules
; 13(9)2023 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37759701
9.
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Eur J Hum Genet
; 31(2): 202-215, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36434256
10.
Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region.
Hum Reprod
; 26(11): 3186-96, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21859812
11.
Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.
Genes (Basel)
; 12(7)2021 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34356104
12.
A reliable strategy for single-cell RNA sequencing analysis using cryoconserved primary cortical cells.
J Neurosci Methods
; 347: 108960, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32987100
13.
DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms.
Genes (Basel)
; 11(6)2020 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32580525
14.
Preservation of neurons in an AD 79 vitrified human brain.
PLoS One
; 15(10): e0240017, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33022024
15.
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti.
Hum Mutat
; 30(9): 1284-91, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19603533
16.
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Hum Mutat
; 29(5): 595-604, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18350553
17.
The LCR at the IKBKG locus is prone to recombine.
Am J Hum Genet
; 86(4): 650-2; author reply 652-3, 2010 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20380930
18.
A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy.
Pediatr Neurol
; 138: 58-61, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36401981
19.
Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report.
BMC Med Genet
; 8: 18, 2007 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-17428316
20.
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.
BMC Med Genet
; 8: 25, 2007 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-17480217