Detalhe da pesquisa
1.
Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls.
Int J Mol Sci
; 24(17)2023 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37686372
2.
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.
Hum Mutat
; 40(8): 1101-1114, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30924982
3.
The identification of patient-specific mutations reveals dual pathway activation in most patients with melanoma and activated receptor tyrosine kinases in BRAF/NRAS wild-type melanomas.
Cancer
; 125(4): 586-600, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561760
4.
Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation-negative early-onset and high-risk breast cancer patients.
Int J Cancer
; 143(6): 1416-1425, 2018 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659014
5.
Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation.
Hum Mol Genet
; 25(22): 4996-5005, 2016 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28171595
6.
The Arg98Trp mutation in human VKORC1 causing VKCFD2 disrupts a di-arginine-based ER retention motif.
Blood
; 124(8): 1354-62, 2014 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24963046
7.
Novel recessive myotilin mutation causes severe myofibrillar myopathy.
Neurogenetics
; 15(3): 151-6, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24928145
8.
Confirmation of warfarin resistance of naturally occurring VKORC1 variants by coexpression with coagulation factor IX and in silico protein modelling.
BMC Genet
; 15: 17, 2014 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-24491178
9.
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
J Neuromuscul Dis
; 10(5): 835-846, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37424474
10.
The Genetic Approach: Next-Generation Sequencing-Based Diagnosis of Congenital and Infantile Myopathies/Muscle Dystrophies.
Neuropediatrics
; 48(4): 242-246, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28482373
11.
Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing.
Mol Genet Genomic Med
; 10(10): e2028, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35912688
12.
X-chromosomal inactivation patterns in women with Fabry disease.
Mol Genet Genomic Med
; 10(9): e2029, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35971858
13.
Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.
Genes (Basel)
; 13(10)2022 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292638
14.
CRISPR/Cas9-edited PKP2 knock-out (JMUi001-A-2) and DSG2 knock-out (JMUi001-A-3) iPSC lines as an isogenic human model system for arrhythmogenic cardiomyopathy (ACM).
Stem Cell Res
; 53: 102256, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33640690
15.
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
Nature
; 427(6974): 537-41, 2004 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-14765194
16.
New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.
J Clin Med
; 9(7)2020 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32659924
17.
Targeted Gene Expression Profile Reveals CDK4 as Therapeutic Target for Selected Patients With Adrenocortical Carcinoma.
Front Endocrinol (Lausanne)
; 11: 219, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32373071
18.
Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation.
Stem Cell Res
; 46: 101856, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32521499
19.
Exon-4 Mutations in KRAS Affect MEK/ERK and PI3K/AKT Signaling in Human Multiple Myeloma Cell Lines.
Cancers (Basel)
; 12(2)2020 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32079091
20.
Novel mutations in the VKORC1 gene of wild rats and mice--a response to 50 years of selection pressure by warfarin?
BMC Genet
; 10: 4, 2009 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-19200363