Detalhe da pesquisa
1.
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Am J Hum Genet
; 109(5): 909-927, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35390279
2.
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.
Hum Mol Genet
; 31(18): 3083-3094, 2022 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35512351
3.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 338-355, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109419
4.
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Brain
; 142(10): 2948-2964, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501903
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
em Inglês
| MEDLINE | ID: mdl-27040691
6.
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
em Inglês
| MEDLINE | ID: mdl-29878067
7.
Refining the phenotype associated with CASC5 mutation.
Neurogenetics
; 17(1): 71-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26626498
8.
Mutation in TTI2 reveals a role for triple T complex in human brain development.
Hum Mutat
; 34(11): 1472-6, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23956177
9.
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
BMC Med Genomics
; 16(1): 143, 2023 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37344844
10.
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing.
Eur J Hum Genet
; 30(6): 712-720, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35388186
11.
Differential expression of the 18 kDa translocator protein (TSPO) by neoplastic and inflammatory cells in mouse tumors of breast cancer.
Mol Pharm
; 8(3): 823-32, 2011 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-21417480
12.
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
J Clin Invest
; 129(3): 1240-1256, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30620337
13.
Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.
Eur J Hum Genet
; 26(6): 912-918, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29483668
14.
AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability.
Nat Commun
; 8: 15910, 2017 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28675162
15.
Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology.
Mol Autism
; 7: 1, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26753090
16.
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
Orphanet J Rare Dis
; 11(1): 57, 2016 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27146152
17.
A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.
Eur J Hum Genet
; 24(3): 455-8, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26153217
18.
Contiguous mutation syndrome in the era of high-throughput sequencing.
Mol Genet Genomic Med
; 3(3): 215-20, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26029708
19.
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.
Nat Neurosci
; 18(12): 1731-6, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26571461
20.
Molecular imaging study on in vivo distribution and pharmacokinetics of modified small interfering RNAs (siRNAs).
Oligonucleotides
; 18(3): 201-12, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18729822