Detalhe da pesquisa
1.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
J Med Genet
; 61(6): 503-519, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38471765
2.
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.
Hum Genet
; 143(6): 747-759, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38753158
3.
CATSHL syndrome, a new family and phenotypic expansion.
Clin Genet
; 105(3): 313-316, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37990933
4.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain
; 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38038360
5.
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
6.
Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene.
Neurogenetics
; 24(3): 181-188, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37145209
7.
Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human.
Mol Psychiatry
; 27(10): 4092-4102, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35697757
8.
The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study.
Am J Med Genet A
; 191(2): 424-436, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36373849
9.
Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss.
Br J Dermatol
; 189(6): 741-749, 2023 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37671665
10.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Hum Mutat
; 43(11): 1609-1628, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904121
11.
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
Neurogenetics
; 23(1): 27-35, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34731330
12.
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Genet Med
; 24(1): 51-60, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906459
13.
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Clin Genet
; 102(4): 314-323, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842840
14.
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
15.
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
16.
ANKRD11 variants: KBG syndrome and beyond.
Clin Genet
; 100(2): 187-200, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33955014
17.
Pulmonary function in Williams-Beuren syndrome: Spirometric data of 22 Italian patients.
Am J Med Genet A
; 185(2): 390-396, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33174385
18.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
J Med Genet
; 57(11): 760-768, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32170002
19.
Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome.
Int J Mol Sci
; 22(7)2021 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33807238
20.
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients.
J Clin Immunol
; 40(6): 851-860, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32594341