Detalhe da pesquisa
1.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Am J Hum Genet
; 108(5): 929-941, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811806
2.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med
; 25(1): 37-48, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322149
3.
PIGN encephalopathy: Characterizing the epileptology.
Epilepsia
; 63(4): 974-991, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179230
4.
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Am J Hum Genet
; 103(2): 305-316, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057029
5.
Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing.
Pediatr Res
; 90(2): 284-288, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33177673
6.
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Clin Genet
; 97(4): 610-620, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32043567
7.
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
Am J Hum Genet
; 97(6): 922-32, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637982
8.
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Am J Med Genet A
; 176(11): 2259-2275, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30194818
9.
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
J Med Genet
; 54(2): 87-92, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27620904
10.
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
Hum Mutat
; 37(8): 804-11, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27159028
11.
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
Pediatr Res
; 80(6): 809-815, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27500536
12.
Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.
Am J Hum Genet
; 91(2): 252-64, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22840365
13.
Infectious and immunologic phenotype of MECP2 duplication syndrome.
J Clin Immunol
; 35(2): 168-81, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25721700
14.
Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.
Am J Med Genet A
; 167(7): 1614-20, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25858326
15.
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
Am J Med Genet A
; 167(6): 1342-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900314
16.
Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients.
Am J Med Genet A
; 167A(10): 2265-71, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26097044
17.
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.
Pediatr Res
; 78(5): 533-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26200704
18.
Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.
Am J Med Genet A
; 164A(4): 918-23, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24458433
19.
Prevalence of pathogenic copy number variants among children conceived by donor oocyte.
Sci Rep
; 11(1): 6752, 2021 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33762699
20.
Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder.
Genet Med
; 17(8): 683-4, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26240977