Detalhe da pesquisa
1.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
J Med Genet
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38471765
2.
From clinical findings to the pathomechanism of poikiloderma with neutropenia.
Br J Haematol
; 204(2): 395-396, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37932156
3.
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
4.
Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment.
Int J Mol Sci
; 24(10)2023 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37240412
5.
Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling.
Int J Mol Sci
; 24(4)2023 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36835439
6.
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
7.
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Int J Mol Sci
; 23(11)2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35682590
8.
Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients.
Int J Mol Sci
; 22(11)2021 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34071322
9.
Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition.
Genet Mol Biol
; 44(3): e20200332, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34358284
10.
Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cells.
Carcinogenesis
; 41(3): 257-266, 2020 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31504229
11.
Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome.
Int J Mol Sci
; 21(22)2020 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33187293
12.
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
Neurogenetics
; 20(3): 145-154, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31209758
13.
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Hum Genet
; 138(3): 257-269, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30806792
14.
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
15.
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.
J Clin Immunol
; 38(4): 494-502, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29770900
16.
Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life.
Int J Mol Sci
; 19(2)2018 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29389897
17.
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
Int J Mol Sci
; 19(4)2018 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29642415
18.
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Hum Genet
; 136(3): 307-320, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28120103
19.
Nomenclature and definition in asymmetric regional body overgrowth.
Am J Med Genet A
; 173(7): 1735-1738, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475229
20.
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Hum Mutat
; 37(2): 175-83, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26486927