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Jón Jóhannes Jónsson - Prófessor

Jón Jóhannes Jónsson

–

Heilbrigðisvísindasvið

Jón Jóhannes Jónsson

Prófessor

Prófessor og forstöðumaður

Aðsetur
Læknagarður / Lg-505
Sími
5254845
Tölvupóstur
jonjj [hjá] hi.is

Starfseining
Læknadeild, Lífefnafræði
Vefsíða
http://www.hi.is/nam/lifsam/JonJJ/forsidajjj.htm

Ferilskrá
Jón Jóhannes Jónsson - ferilskrá
ORCID vefsíða
https://orcid.org/0000-0001-5084-8374
Rannsóknagátt – Jón Jóhannes Jónsson

Show Útgefið efni

2024

Molecular Pathology of Myotonic Dystrophy Type 1 in IcelandMolecular Genetics and Genomic Medicine

2023

Genetic Subtypes and Outcome of Patients Aged 1 to 45 Years Old With Acute Lymphoblastic Leukemia in the NOPHO ALL2008 TrialHemaSphere
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndromeEuropean Journal of Human Genetics
Person-centered genetic counselling
Lyfjaþolinn háþrýstingur – hjáhnoðuæxliLæknablaðið

2022

Aukin notkun á erfðaheilbrigðisþjónustu á Íslandi árin 2012-2017Læknablaðið
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome geneNature Communications
Aukin notkun á erfðaheilbrigðisþjónustu á Íslandi árin 2012-2017Læknablaðið
Aukin notkun á erfðaheilbrigðisþjónustu á Íslandi árin 2012-2017Laeknabladid

2021

Aukin notkun á erfðaheilbrigðisþjónustu á Íslandi árin 2012-2017Læknablaðið
Molecular genetics of inherited retinal degenerations in Icelandic patientsClinical Genetics
Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variantsJIMD Reports
Undiagnosed Phenylketonuria Can Exist EverywhereJournal of Pediatrics

2020

Web-based return of BRCA2 research resultsEuropean Journal of Human Genetics

2019

Ethical issues in precision medicineAnnals of Clinical Biochemistry
Electronically ascertained extended pedigrees in breast cancer genetic counselingFamilial Cancer

2018

Microgels and apparatus for PAGE of nucleic acids in one or two dimensionsBioTechniques
Northern lights assay: a versatile method for comprehensive detection of DNA damageNucleic Acids Research

2016

Counsellee’s experience of cancer genetic counselling with pedigrees that automatically incorporate genealogical and cancer database informationJournal of Community Genetics

2015

Variability of ethics education in laboratory medicine training programsClinica Chimica Acta
Impact of different ChIP-Seq protocols on DNA integrity and quality of bioinformatics analysis resultsBriefings in Functional Genomics
Large-scale whole-genome sequencing of the Icelandic populationNature Genetics

2014

Erfdarádgjöf og sálfélagslegir pættirLaeknabladid
Erfoaráogjöf vegna krabbameinaLaeknabladid
First trimester detection of trisomy 16 using combined biochemical and ultrasound screeningPrenatal Diagnosis
Erfðaráðgjöf á meðgönguLaeknabladid
Membrane transporters in a human genome-scale metabolic knowledgebase and their implications for diseaseFrontiers in Physiology
Fjölskyldusaga og ættartréLaeknabladid

2013

Iceland - Genetic counseling servicesJournal of Genetic Counseling
A community-driven global reconstruction of human metabolismNature Biotechnology
The use of genealogy databases for risk assessment in genetic health serviceJournal of Community Genetics
Importance of the efficiency of double-stranded DNA formation in cDNA synthesis for the imprecision of microarray expression analysisClinical Chemistry

2012

The Scientific Program of the XXXIIIth Nordic Congress in Clinical Chemistry in Reykjavik, Iceland June 12th-15th, 2012Klinisk Biokemi i Norden
The distribution of a germline methylation marker suggests a regional mechanism of LINE-1 silencing by the piRNA-PIWI systemBMC Genetics
Distribution of a marker of germline methylation differs between major families of transposon-derived repeats in the human genomeGene
A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphismEuropean Journal of Medical Genetics
Enhanced interpretation of newborn screening results without analyte cutoff valuesGenetics in Medicine
A compendium of inborn errors of metabolism mapped onto the human metabolic networkMolecular BioSystems

2011

Mutations in multiple PKD genes may explain early and severe polycystic kidney diseaseJournal of the American Society of Nephrology
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.Genetics in medicine : official journal of the American College of Medical Genetics

2010

Bráðir kviðverkir af völdum slitróttrar bráðaporfýríuLæknablaðið
Sjúkratilfelli - Lífshættulegar truflanir á blóosöltum hjá átta vikna drengLaeknabladid
Effects of knowledge, education, and experience on acceptance of first trimester screening for chromosomal anomaliesActa Obstetricia et Gynecologica Scandinavica
Tyrosine kinase mutations in gastrointestinal stromal tumors in a nation-wide study in IcelandAPMIS

2009

HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombinationGenome Research
Genome-scale network analysis of imprinted human metabolic genesEpigenetics

2007

Two-dimensional strandness-dependent electrophoresisNature Protocols
IFCC Position PaperClinical Chemistry and Laboratory Medicine
Positive association between DNA strand breaks in peripheral blood mononuclear cells and polyunsaturated fatty acids in red blood cells from womenNutrition and Cancer

2006

Encapsidation determinants located downstream of the major splice donor in the maedi-visna virus leader regionJournal of Virology
Two-dimensional strandness-dependent electrophoresisAnalytical Biochemistry
Transposon-derived repeats in the human genome and 5-methylcytosine- associated mutations in adjacent genesGene
Positive association between plasma antioxidant capacity and n-3 PUFA in red blood cells from Icelandic women.Lipids
Positive association between plasma antioxidant capacity and n-3 PUFA in red blood cells from Icelandic women.Lipids

2005

Spennuvisnun (Dystrophia Myotonica)Læknabladid
A rapid real-time qRT-PCR assay for ovine β-actin mRNAJournal of Biotechnology

2004

IFCC Taskforce on Ethics
Two-dimensional conformation-dependent electrophoresis (2D-CDE) to separate DNA fragments containing unmatched bulge from complex DNA samples.Nucleic Acids Research

2003

Quantitative assays for maedi-visna virus genetic sequences and mRNA's based on RT-PCR with real-time FRET measurementsVirology

2001

Lífefnaskimun fyrir fósturgöllumLæknablaðið

2000

"Supercharged cells" for delivery of recombinant human iduronate-2-sulfataseMolecular Genetics and Metabolism

1999

Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndromeGenomics

1998

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X-linked contiguous gene deletion syndrome?Journal of Medical Genetics
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis and mental retardationGenomics

1997

Molecular characterization of patients with 18q23 deletionsAmerican Journal of Human Genetics

1996

Preclinical studies of lymphocyte gene therapy for mild Hunter syndrome (mucupolysaccharidosis type II)Human Gene Therapy
Preclinical studies of lymphocyte gene therapy for mild Hunter syndrome (mucopolysaccharidosis type II)Human Gene Therapy
Svipgerðareinun á meingenum og aðrar nýjar aðferðir við erfðamengisrannsóknir

1995

Intact retrovirus-mediated transduction of an engineered intron-containing purine nucleosidephosphorylase geneHuman Gene Therapy
Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretationAmerican journal of human genetics
From mutation mapping to phenotype cloningProceedings of the National Academy of Sciences of the United States of America
Retrovirus-mediated transduction of an engineered intron-containing purine nucleoside phosphorylase geneHuman Gene Therapy
Molecular genetic diagnosis of mucupolyaccharidosis type II (Hunter syndrome) by automated sequencing and computer- assisted interpretation: Toward mutation mapping of the iduronate-2-sulfatase geneAmerican Journal of Human Genetics

1994

An enchanger in the first intron of the human purine nucleoside phosphorylase-encoding geneGene
An enhancer in the first intron of the human purine nucleoside phosphorylase-encoding geneGene

1992

Intron requirement for expression of the human purine nucleoside phosphorylase geneNucleic Acids Research

1991

Herpes simplex viros thymidine kinase enzymatic assay in transient transfection experiments using thymidine kinase deficient cellsAnalytical Biochemistry
Prevalence of iron deficiency and iron overload in the adult Icelandic PopulationJournal of Clinical Epidemiology
Herpes simplex virus thymidine kinase enzymatic assay in transient transfection experiments using thymidine kinase-deficient cellsAnalytical Biochemistry
Járnbúskapur fullorðinna Íslendinga : tíðni járnskorts og járnofhleðsluLæknablaðið
Sequence and functional characterization of the human purine nucleoside phosphorylase promoterNucleic Acids Research

1986

Segaleysandi meðferð við bráðri kransæðastíflu. Árangur af meðferð hjá fyrstu þrjátíu og þremur íslensku sjúklingunumLæknablaðið

1985

Homosystínmiga á ÍslandiLæknablaðið

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