Detalhe da pesquisa
1.
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Hum Mol Genet
; 32(9): 1457-1465, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36458889
2.
Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.
Clin Genet
; 104(2): 198-209, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37198960
3.
Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.
Clin Genet
; 101(1): 87-100, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34664257
4.
Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations.
Metab Brain Dis
; 36(5): 1049-1056, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33661512
5.
Variability in Phelan-McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism.
Clin Genet
; 94(6): 590-591, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30308089
6.
A 96-Well Polyacrylamide Gel for Electrophoresis and Western Blotting.
bioRxiv
; 2024 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38765957
7.
Characterization of a Clinically and Biologically Defined Subgroup of Patients with Autism Spectrum Disorder and Identification of a Tailored Combination Treatment.
Biomedicines
; 12(5)2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38790952
8.
Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
PLoS One
; 16(7): e0253859, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34228749
9.
A new test for autism spectrum disorder: Metabolic data from different cell types.
Data Brief
; 39: 107598, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34877376
10.
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.
Mol Genet Genomic Med
; 8(1): e1036, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31701662
11.
Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
Nat Commun
; 9(1): 337, 2018 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29348635
12.
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
Nat Commun
; 8(1): 1257, 2017 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29097652
13.
Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.
Orphanet J Rare Dis
; 10: 105, 2015 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-26306707