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.
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.
PLoS Genet
; 17(7): e1009651, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34197453
3.
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
4.
Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.
Hum Mutat
; 41(4): 759-773, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31799751
5.
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
6.
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.
BMC Med Genet
; 16: 61, 2015 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26285866
7.
Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.
Neurogenetics
; 12(4): 263-71, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21993715
8.
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Hum Mutat
; 31(5): E1348-60, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20232353
9.
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
Hum Mutat
; 27(7): 654-66, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16683254
10.
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
Eur J Hum Genet
; 13(6): 731-41, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15798777
11.
Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.
Fam Cancer
; 10(1): 127-32, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20972631
12.
Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.
Eur J Hum Genet
; 19(2): 157-63, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20877415
13.
High level expression and secretion of truncated forms of herpes simplex virus type 1 and type 2 glycoprotein D by the methylotrophic yeast Pichia pastoris.
Protein Expr Purif
; 25(3): 400-8, 2002 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12182819