Detalhe da pesquisa
1.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34186028
2.
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.
Clin Genet
; 105(1): 81-86, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37558216
3.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet
; 104(2): 186-197, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165752
4.
Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome.
Am J Med Genet C Semin Med Genet
; 190(4): 510-519, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36490374
5.
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Am J Med Genet A
; 188(4): 1149-1159, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34971082
6.
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.
Clin Genet
; 97(3): 521-526, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31705535
7.
TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.
Int J Mol Sci
; 21(4)2020 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32085672
8.
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.
Clin Genet
; 96(2): 169-175, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31066025
9.
Learning by observation and learning by doing in Down and Williams syndromes.
Dev Sci
; 21(5): e12642, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29280247
10.
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Int J Mol Sci
; 19(1)2017 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29283410
11.
Cognitive, adaptive, and behavioral features in Joubert syndrome.
Am J Med Genet A
; 170(12): 3115-3124, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27530364
12.
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.
Hum Mutat
; 36(12): 1155-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26290468
13.
Behavioral phenotype in Costello syndrome with atypical mutation: a case report.
Am J Med Genet B Neuropsychiatr Genet
; 168B(1): 66-71, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25367099
14.
Behavioral profile in RASopathies.
Am J Med Genet A
; 164A(4): 934-42, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24458522
15.
Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Front Psychiatry
; 15: 1375954, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38414498
16.
Evolution of neuropsychological and behavioral profile in a cohort of pediatric patients with Becker muscular dystrophy in a longitudinal study.
Neuromuscul Disord
; 36: 33-37, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38340696
17.
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.
Am J Med Genet B Neuropsychiatr Genet
; 162B(1): 17-23, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23184435
18.
"Corp-Osa-Mente", a Combined Psychosocial-Neuropsychological Intervention for Adolescents and Young Adults with Fragile X Syndrome: An Explorative Study.
Brain Sci
; 13(2)2023 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36831819
19.
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Front Psychiatry
; 14: 1327802, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38288059
20.
Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation.
J Pediatr
; 161(4): 705-9.e1, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22560791