Detalhe da pesquisa
1.
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.
Hum Mol Genet
; 31(14): 2386-2395, 2022 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179199
2.
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
Am J Hum Genet
; 98(2): 358-62, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26805782
3.
Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease.
J Inherit Metab Dis
; 42(5): 909-917, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31059585
4.
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.
Am J Hum Genet
; 96(5): 826-31, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25913036
5.
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
Acta Derm Venereol
; 96(4): 468-72, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26608363
6.
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.
Nat Genet
; 39(8): 1000-6, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17637780
7.
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.
Am J Hum Genet
; 91(4): 754-9, 2012 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23000146
8.
Stimulation of soluble guanylyl cyclase (sGC) by riociguat attenuates heart failure and pathological cardiac remodelling.
Br J Pharmacol
; 179(11): 2430-2442, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33247945
9.
Riociguat attenuates the changes in left ventricular proteome and microRNA profile after experimental aortic stenosis in mice.
Br J Pharmacol
; 179(18): 4575-4592, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35751875
10.
Human skin-resident host T cells can persist long term after allogeneic stem cell transplantation and maintain recirculation potential.
Sci Immunol
; 7(67): eabe2634, 2022 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35089814
11.
Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations.
Hum Mol Genet
; 18(12): 2288-96, 2009 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19304780
12.
The rare and the common: An Austrian DRPLA family harboring the European haplotype.
Parkinsonism Relat Disord
; 87: 119-121, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022586
13.
Congenital heart disease risk loci identified by genome-wide association study in European patients.
J Clin Invest
; 131(2)2021 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33201861
14.
Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study.
Neurobiol Aging
; 49: 217.e1-217.e4, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27814993
15.
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.
Lancet
; 366(9483): 371-7, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16054936
16.
Genomic heterogeneity of osteosarcoma - shift from single candidates to functional modules.
PLoS One
; 10(4): e0123082, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25848766
17.
Rare variants in ß-Amyloid precursor protein (APP) and Parkinson's disease.
Eur J Hum Genet
; 23(10): 1328-33, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604855
18.
Large-scale assessment of polyglutamine repeat expansions in Parkinson disease.
Neurology
; 85(15): 1283-92, 2015 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-26354989
19.
A gene locus responsible for the familial hair shaft abnormality pili annulati maps to chromosome 12q24.32-24.33.
J Invest Dermatol
; 123(6): 1073-7, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15610517
20.
Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing.
Neurol Genet
; 5(4): e346, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31403082