Detalhe da pesquisa
1.
Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review.
Clin Genet
; 97(1): 125-137, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30873608
2.
Huntingtin gene CAG repeat size affects autism risk: Family-based and case-control association study.
Am J Med Genet B Neuropsychiatr Genet
; 183(6): 341-351, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32652810
3.
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Am J Med Genet B Neuropsychiatr Genet
; 174(5): 547-556, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28304131
4.
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Am J Med Genet B Neuropsychiatr Genet
; 171(8): 1088-1098, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27566550
5.
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
Hum Genet
; 134(6): 613-26, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25805166
6.
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.
BMC Med Genet
; 15: 52, 2014 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24886451
7.
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.
BMC Med Genet
; 14: 41, 2013 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-23551878
8.
RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorder.
Sci Rep
; 13(1): 807, 2023 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36646776
9.
Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder.
Mol Genet Genomic Med
; 11(8): e2182, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37186221
10.
Yield of array-CGH analysis in Tunisian children with autism spectrum disorder.
Mol Genet Genomic Med
; 10(8): e1939, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35762097
11.
Appropriateness of array-CGH in the ADHD clinics: A comparative study.
Genes Brain Behav
; 19(6): e12651, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141190
12.
FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family.
Mol Genet Genomic Med
; 8(9): e1373, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32588496
13.
An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient.
Mol Syndromol
; 9(5): 247-252, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30733659
14.
Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes.
Front Genet
; 10: 955, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31749829
15.
Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features.
Mol Syndromol
; 6(5): 236-41, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26997944
16.
Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors.
Sci Rep
; 5: 15454, 2015 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-26482194
17.
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.
Epigenetics
; 9(7): 973-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24756084
18.
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.
Eur J Med Genet
; 56(3): 138-43, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23313159