Detalhe da pesquisa
1.
Mitochondrial genome-wide analysis of nuclear DNA methylation quantitative trait loci.
Hum Mol Genet
; 31(10): 1720-1732, 2022 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35077545
2.
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
J Allergy Clin Immunol
; 148(2): 599-611, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33662367
3.
Somatic mutation profiles as molecular classifiers of ulcerative colitis-associated colorectal cancer.
Int J Cancer
; 148(12): 2997-3007, 2021 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33521965
4.
Discovery of mitochondrial DNA variants associated with genome-wide blood cell gene expression: a population-based mtDNA sequencing study.
Hum Mol Genet
; 28(8): 1381-1391, 2019 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30629177
5.
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
Am J Med Genet A
; 182(11): 2605-2610, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32902138
6.
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
Am J Med Genet A
; 179(7): 1362-1365, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31059209
7.
Somatic STAT3 mutations in large granular lymphocytic leukemia.
N Engl J Med
; 366(20): 1905-13, 2012 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-22591296
8.
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
Hum Mol Genet
; 21(1): 66-75, 2012 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21937588
9.
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Sci Rep
; 14(1): 4306, 2024 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38383731
10.
The Finnish disease heritage database (FinDis) update-a database for the genes mutated in the Finnish disease heritage brought to the next-generation sequencing era.
Hum Mutat
; 34(11): 1458-66, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23904198
11.
Congenital hypogonadotropic hypogonadism in a patient with a de novo POGZ mutation.
Eur J Endocrinol
; 189(2): 271-280, 2023 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37619992
12.
Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years.
EClinicalMedicine
; 51: 101556, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35875813
13.
Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2.
Eur J Endocrinol
; 185(1): 57-66, 2021 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909591
14.
Examining the effect of mitochondrial DNA variants on blood pressure in two Finnish cohorts.
Sci Rep
; 11(1): 611, 2021 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33436758
15.
Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.
Oncotarget
; 11(14): 1244-1256, 2020 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32292574
16.
Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results.
Cancers (Basel)
; 12(7)2020 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32660107
17.
JAK/STAT-Activating Genomic Alterations Are a Hallmark of T-PLL.
Cancers (Basel)
; 11(12)2019 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31766351
18.
Author Correction: Clonal hematopoiesis in patients with rheumatoid arthritis.
Blood Cancer J
; 11(2): 36, 2021 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597539
19.
Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland.
Eur J Hum Genet
; 24(10): 1473-8, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27142677
20.
Complete Genome Sequences of Influenza A/H1N1 Strains Isolated from Patients during the 2013-2014 Epidemic Season in Finland.
Genome Announc
; 3(2)2015 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-25767246