J. Intern. Med.

ISSN	1365-2796
ISSN-L	0954-6820
IUID	fec0ba339c6e49f7bdb8af553bae12a0
Modified	2020-11-27T13:14:02.101Z
Created	2017-05-09T09:12:53.853Z

Year 2024

PubMed DOI Crossref

Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs.

Paucar M, Nilsson D, Engvall M, ..., Wedell A, Svenningsson P

J. Intern. Med. 296 (3) 234-248 [2024-09-00; online 2024-07-07]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]

Year 2023

PubMed DOI Crossref

Precision cancer medicine: Concepts, current practice, and future developments.

Edsjö A, Holmquist L, Geoerger B, ..., Siu LL, Stenzinger A

J. Intern. Med. 294 (4) 455-481 [2023-10-00; online 2023-08-28]

Global Proteomics and Proteogenomics [Technology development]

PubMed DOI Crossref

Precision medicine in rare diseases: What is next?

Tesi B, Boileau C, Boycott KM, ..., Nordgren A, Lindstrand A

J. Intern. Med. 294 (4) 397-412 [2023-10-00; online 2023-06-01]

Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]

PubMed DOI Crossref

Overweight in childhood and young adulthood increases the risk for adult thromboembolic events.

Lilja L, Bygdell M, Martikainen J, ..., Kindblom JM, Ohlsson C

J. Intern. Med. 293 (5) 615-623 [2023-05-00; online 2023-03-01]

Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]

Year 2022

PubMed DOI Crossref

Robust humoral and cellular immune responses and low risk for reinfection at least 8 months following asymptomatic to mild COVID-19.

Havervall S, Ng H, Jernbom Falk A, ..., Hober S, Thålin C

J. Intern. Med. 291 (1) 72-80 [2022-01-00; online 2021-09-27]

Affinity Proteomics Uppsala [Service] Autoimmunity and Serology Profiling [Collaborative]

Year 2021

PubMed DOI Crossref

Hyperglycaemia-associated Caspase-3 predicts diabetes and coronary artery disease events.

Sun J, Singh P, Österlund J, ..., Engström G, Edsfeldt A

J. Intern. Med. 290 (4) 855-865 [2021-10-00; online 2021-07-26]

Affinity Proteomics Uppsala [Service]

PubMed DOI Crossref

Founder effects facilitate the use of a genotyping-based approach to molecular diagnosis in Swedish patients with familial hypercholesterolaemia.

Benedek P, Jiao H, Duvefelt K, ..., Eriksson M, Angelin B

J. Intern. Med. 290 (2) 404-415 [2021-08-00; online 2021-05-06]

Bioinformatics Support for Computational Resources [Service]

PubMed DOI Crossref

SARS-CoV-2 infections amongst personnel providing home care services for older persons in Stockholm, Sweden.

Hassan SS, Seigerud Å, Abdirahman R, ..., Conneryd Lundgren K, Dillner J

J. Intern. Med. 290 (2) 430-436 [2021-08-00; online 2021-04-12]

Autoimmunity and Serology Profiling [Service]

Year 2020

PubMed DOI Crossref

Joint impact of common risk factors on incident dementia: A cohort study of the Swedish Twin Registry.

Tomata Y, Li X, Karlsson IK, ..., Pedersen NL, Hägg S

J. Intern. Med. 288 (2) 234-247 [2020-08-00; online 2020-05-03]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2019

PubMed DOI Crossref

Apolipoprotein B48 metabolism in chylomicrons and very low-density lipoproteins and its role in triglyceride transport in normo- and hypertriglyceridemic human subjects.

Björnson E, Packard CJ, Adiels M, ..., Taskinen MR, Borén J

J. Intern. Med. - (-) - [2019-12-17; online 2019-12-17]

Glycoproteomics and MS Proteomics [Service]

PubMed DOI Crossref

Investigation of human apoB48 metabolism using a new, integrated non-steady-state model of apoB48 and apoB100 kinetics.

Björnson E, Packard CJ, Adiels M, ..., Taskinen MR, Borén J

J. Intern. Med. 285 (5) 562-577 [2019-05-00; online 2019-03-12]

Glycoproteomics and MS Proteomics [Service]

Year 2018

PubMed DOI Crossref

Plasma levels of the proprotein convertase furin and incidence of diabetes and mortality.

Fernandez C, Rysä J, Almgren P, ..., Ruskoaho H, Melander O

J. Intern. Med. 284 (4) 377-387 [2018-10-00; online 2018-07-02]

Affinity Proteomics Uppsala [Service] Clinical Biomarkers [Service] PLA and Single Cell Proteomics [Service]

PubMed DOI Crossref

Targeted proteomic analysis of habitual coffee consumption.

Cornelis MC, Gustafsson S, Ärnlöv J, ..., Lind L, Ingelsson E

J. Intern. Med. 283 (2) 200-211 [2018-02-00; online 2017-11-16]

Affinity Proteomics Uppsala [Service] Clinical Biomarkers [Service] PLA and Single Cell Proteomics [Service]

Year 2017

PubMed DOI Crossref

Autoantibodies against aldehyde-modified collagen type IV are associated with risk of development of myocardial infarction.

Vallejo J, Dunér P, Fredrikson GN, Nilsson J, Bengtsson E

J. Intern. Med. 282 (6) 496-507 [2017-12-00; online 2017-09-25]

Affinity Proteomics Uppsala [Service] Clinical Biomarkers [Service] PLA and Single Cell Proteomics [Service]

PubMed DOI Crossref

Plasma stem cell factor levels are associated with risk of cardiovascular disease and death.

Björkbacka H, Yao Mattisson I, Wigren M, ..., Engström G, Nilsson J

J. Intern. Med. 282 (6) 508-521 [2017-12-00; online 2017-09-21]

Affinity Proteomics Uppsala [Service] Clinical Biomarkers [Service] PLA and Single Cell Proteomics [Service]

PubMed DOI Crossref

Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene.

Jiao H, Olin M, Hansson M, ..., Angelin B, Björkhem I

J. Intern. Med. - (-) - [2017-11-02; online 2017-11-02]

NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Year 2016

PubMed DOI Crossref

Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease.

Eriksson D, Bianchi M, Landegren N, ..., Kämpe O, Pielberg GR

J. Intern. Med. 280 (6) 595-608 [2016-12-00; online 2016-11-02]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Decreased levels of stem cell factor in subjects with incident coronary events.

Wigren M, Rattik S, Hultman K, ..., Gonçalves I, Nilsson J

J. Intern. Med. 279 (2) 180-191 [2016-02-00; online 2015-10-14]

Affinity Proteomics Uppsala [Service] Clinical Biomarkers [Service] PLA and Single Cell Proteomics [Service]

PubMed DOI Crossref

Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders.

Stranneheim H, Wedell A

J. Intern. Med. 279 (1) 3-15 [2016-01-00; online 2015-08-08]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

Year 2014

PubMed DOI Crossref

Genetic factors may play a prominent role in the development of coronary heart disease dependent on important environmental factors.

Song C, Chang Z, Magnusson PK, Ingelsson E, Pedersen NL

J. Intern. Med. 275 (6) 631-639 [2014-06-00; online 2013-12-18]

NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

PubMed DOI Crossref

The HLA locus contains novel foetal susceptibility alleles for congenital heart block with significant paternal influence.

Meisgen S, Östberg T, Salomonsson S, ..., Kockum I, Wahren-Herlenius M

J. Intern. Med. 275 (6) 640-651 [2014-06-00; online 2013-12-21]

NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

Year 2011

PubMed DOI Crossref

The Human Protein Atlas as a proteomic resource for biomarker discovery.

Pontén F, Schwenk JM, Asplund A, Edqvist PH

J. Intern. Med. 270 (5) 428-446 [2011-11-00; online 2011-08-03]

Affinity Proteomics Stockholm [Technology development] Tissue Profiling

Year 2010

PubMed DOI Crossref

Profiling protein expression and interactions: proximity ligation as a tool for personalized medicine.

Blokzijl A, Friedman M, Pontén F, Landegren U

J. Intern. Med. 268 (3) 232-245 [2010-09-00; online 2010-08-11]

Affinity Proteomics Uppsala [Technology development] PLA and Single Cell Proteomics

PubMed DOI Crossref

The role of IL-1beta in reduced IL-7 production by stromal and epithelial cells: a model for impaired T-cell numbers in the gut during HIV-1 infection.

Thang PH, Ruffin N, Brodin D, ..., Vivar N, Chiodi F

J. Intern. Med. 268 (2) 181-193 [2010-08-00; online 2010-05-26]

Bioinformatics and Expression Analysis (BEA)