Detalhe da pesquisa
1.
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.
Am J Med Genet B Neuropsychiatr Genet
; : e32976, 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38385826
2.
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants.
Int J Mol Sci
; 23(22)2022 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36430969
3.
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
Int J Mol Sci
; 20(15)2019 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31344879
4.
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
Am J Hum Genet
; 86(2): 185-95, 2010 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20159109
5.
Rett networked database: an integrated clinical and genetic network of Rett syndrome databases.
Hum Mutat
; 33(7): 1031-6, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22415763
6.
Medical care of adolescents and women with Rett syndrome: an Italian study.
Am J Med Genet A
; 158A(1): 13-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22139899
7.
SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features.
Brain Sci
; 12(1)2021 Dec 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35053762
8.
Epilepsy in Rett syndrome: clinical and genetic features.
Epilepsy Behav
; 19(3): 296-300, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20728410
9.
Analysis of the Phenotypes in the Rett Networked Database.
Int J Genomics
; 2019: 6956934, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31049350
10.
Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS.
Front Neurol
; 9: 967, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30538663
11.
The phenotype of SCN8A developmental and epileptic encephalopathy.
Neurology
; 91(12): e1112-e1124, 2018 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30171078
12.
Editorial: Overlapping Phenotypes and Genetic Heterogeneity of Rare Neurodevelopmental Disorders.
Front Neurol
; 12: 711288, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34367058
13.
Blood oxidative stress and metallothionein expression in Rett syndrome: Probing for markers.
World J Biol Psychiatry
; 17(3): 198-209, 2016 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26469135
14.
Think about it: FMR1 gene mosaicism.
J Child Neurol
; 29(9): NP74-7, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24065579
15.
Recent insights into genotype-phenotype relationships in patients with Rett syndrome using a fine grain scale.
Res Dev Disabil
; 35(11): 2976-86, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25124696
16.
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype.
Mol Cytogenet
; 5: 16, 2012 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22475481
17.
Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes.
Neurogenetics
; 8(3): 169-78, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17415598
18.
A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith-Wiedemann syndrome.
Mol Cell Probes
; 17(6): 295-9, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14602480