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
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
Inglês
| MEDLINE | ID: mdl-32652810
3.
New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review.
Cytogenet Genome Res
; 156(3): 127-133, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30448833
4.
Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1.
Cytogenet Genome Res
; 153(2): 73-80, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29258113
5.
Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.
BMC Med Genet
; 18(1): 115, 2017 10 18.
Artigo
Inglês
| MEDLINE | ID: mdl-29047350
6.
Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.
Am J Med Genet A
; 170A(5): 1257-61, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26754677
7.
Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.
Am J Med Genet A
; 170(12): 3258-3264, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27612164
8.
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: a genotype-phenotype analysis.
Am J Med Genet A
; 167(7): 1551-9, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25851921
9.
Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome.
Genet Med
; 20(11): 1483-1484, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-29517766
10.
Human chorionic villus mesenchymal stromal cells reveal strong endothelial conversion properties.
Differentiation
; 83(5): 260-70, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22466671
11.
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
Inglês
| MEDLINE | ID: mdl-36646776
12.
Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder.
Mol Genet Genomic Med
; 11(8): e2182, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37186221
13.
Yield of array-CGH analysis in Tunisian children with autism spectrum disorder.
Mol Genet Genomic Med
; 10(8): e1939, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35762097
14.
Appropriateness of array-CGH in the ADHD clinics: A comparative study.
Genes Brain Behav
; 19(6): e12651, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32141190
15.
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
Inglês
| MEDLINE | ID: mdl-32588496
16.
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
Inglês
| MEDLINE | ID: mdl-30733659
17.
7p22.1 microduplication syndrome: Refinement of the critical region.
Eur J Med Genet
; 60(2): 114-117, 2017 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-27866048
18.
miR-494-3p is a novel tumor driver of lung carcinogenesis.
Oncotarget
; 8(5): 7231-7247, 2017 Jan 31.
Artigo
Inglês
| MEDLINE | ID: mdl-27980227
19.
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
Eur J Med Genet
; 60(11): 565-571, 2017 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-28807867
20.
Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features.
Eur J Med Genet
; 59(1): 39-42, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26700408