Detalhe da pesquisa
1.
NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation.
Cell
; 175(2): 488-501.e22, 2018 10 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30270045
2.
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Am J Hum Genet
; 107(2): 364-373, 2020 08 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32707086
3.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Hum Genet
; 141(1): 65-80, 2022 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-34748075
4.
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
Mol Cell
; 48(4): 641-6, 2012 Nov 30.
Artigo
Inglês
| MEDLINE | ID: mdl-23063529
5.
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
Am J Hum Genet
; 98(4): 782-8, 2016 Apr 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27040691
6.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Am J Hum Genet
; 98(3): 541-552, 2016 Mar 03.
Artigo
Inglês
| MEDLINE | ID: mdl-26942287
7.
Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?
Clin Genet
; 96(3): 254-260, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31170314
8.
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Brain
; 141(7): 1998-2013, 2018 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29878067
9.
Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability.
Am J Med Genet A
; 176(9): 1981-1984, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30178921
10.
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
Am J Med Genet A
; 176(5): 1091-1098, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29681083
11.
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
Am J Hum Genet
; 94(4): 547-58, 2014 Apr 03.
Artigo
Inglês
| MEDLINE | ID: mdl-24656866
12.
Refining the phenotype associated with CASC5 mutation.
Neurogenetics
; 17(1): 71-8, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26626498
13.
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
Hum Mol Genet
; 22(16): 3306-14, 2013 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-23615299
14.
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.
Am J Med Genet A
; 167A(1): 111-22, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25425167
15.
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
Am J Hum Genet
; 88(6): 788-795, 2011 Jun 10.
Artigo
Inglês
| MEDLINE | ID: mdl-21620353
16.
Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion.
Am J Med Genet A
; 164A(5): 1310-7, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24665034
17.
Between hope and reality: treatment of genetic diseases through nucleic acid-based drugs.
Commun Biol
; 7(1): 489, 2024 Apr 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38653753
18.
Mutation in TTI2 reveals a role for triple T complex in human brain development.
Hum Mutat
; 34(11): 1472-6, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23956177
19.
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
Am J Hum Genet
; 87(2): 189-98, 2010 Aug 13.
Artigo
Inglês
| MEDLINE | ID: mdl-20673863
20.
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.
Am J Hum Genet
; 87(5): 694-700, 2010 Nov 12.
Artigo
Inglês
| MEDLINE | ID: mdl-21035105