Detalhe da pesquisa
1.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Am J Hum Genet
; 110(2): 251-272, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669495
2.
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Hum Mutat
; 43(12): 2130-2140, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36251260
3.
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Brain
; 142(4): 867-884, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30879067
4.
Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.
PLoS Genet
; 13(8): e1006923, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28763441
5.
Human mutations in integrator complex subunits link transcriptome integrity to brain development.
PLoS Genet
; 13(5): e1006809, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28542170
6.
Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?
Am J Med Genet A
; 164A(9): 2161-71, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24842779
7.
Novel no-stop FLNA mutation causes multi-organ involvement in males.
Am J Med Genet A
; 161A(9): 2376-84, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23873601
8.
Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants.
Gene
; 877: 147566, 2023 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37311496
9.
The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits.
BMC Biochem
; 13: 18, 2012 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-23006675
10.
Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy.
Circ Genom Precis Med
; 12(9): 397-406, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31461301
11.
Novel RNA-binding properties of the MTG chromatin regulatory proteins.
BMC Mol Biol
; 9: 93, 2008 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-18950503
12.
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.
Eur J Med Genet
; 61(12): 783-789, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30391508
13.
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
Eur J Hum Genet
; 26(2): 210-219, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29348693
14.
Myeloid maturation block by AML1-MTG16 is associated with Csf1r epigenetic downregulation.
Oncogene
; 24(34): 5325-32, 2005 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-16007222
15.
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.
J Exp Med
; 213(7): 1163-74, 2016 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27325888
16.
The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t (16; 21)-positive myeloid malignancies.
Oncogene
; 21(43): 6703-12, 2002 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-12242670
17.
Loss of FMR1 hypermethylation in somatic cell heterokaryons.
FASEB J
; 18(15): 1964-6, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15377638
18.
Prospects of TAT-mediated protein therapy for fragile X syndrome.
J Mol Histol
; 35(4): 389-95, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15503812
19.
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.
Hum Mol Genet
; 12(9): 949-59, 2003 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12700164