Detalhe da pesquisa
1.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Am J Hum Genet
; 110(12): 2015-2028, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979581
2.
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay.
Cytogenet Genome Res
; 162(7): 365-371, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36758534
3.
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.
Hum Genet
; 138(2): 187-198, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30656450
4.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Genet Med
; 21(4): 816-825, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190612
5.
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5).
Am J Med Genet A
; 185(2): 608-613, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296143
6.
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.
Am J Med Genet A
; 164A(8): 1923-30, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24733578
7.
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
J Med Genet
; 50(12): 802-11, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24123876
8.
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
PLoS Genet
; 7(7): e1002173, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21779178
9.
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes.
Genes Genomics
; 45(4): 491-505, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807877
10.
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
medRxiv
; 2023 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37292616
11.
Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion.
Genes (Basel)
; 13(11)2022 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36360163
12.
Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature.
Genes (Basel)
; 13(12)2022 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36553517
13.
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.
Genes (Basel)
; 12(5)2021 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33925474
14.
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder.
Eur J Hum Genet
; 27(4): 594-602, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30659260
15.
Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features.
Brain Dev
; 30(6): 425-9, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18166284
16.
Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.
Hum Mutat
; 21(5): 529-34, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12673795
17.
Brief report: peculiar evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome.
J Autism Dev Disord
; 42(10): 2202-7, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22222775
18.
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation.
Dev Med Child Neurol
; 50(6): 473-6, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18384621
19.
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.
Epilepsia
; 47(5): 830-8, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16686647
20.
Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation.
Am J Med Genet B Neuropsychiatr Genet
; 141B(6): 584-90, 2006 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-16823807