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Forsíða

Reynir Arngrímsson - Professor

Reynir Arngrímsson

–

School of Health Sciences

Reynir Arngrímsson

Professor

Professor of Clinical Genetics

Location
Læknagarður / Lg-535
Phone
5435030
Email
reynirar [at] hi.is

Unit
Biochemistry
Website
https://orcid.org/0000-0003-1142-2914

Consultation hours
ORCID site
https://orcid.org/0000-0003-1142-2914
Research portal – Reynir Arngrímsson

Published works

2026

Splenic hamartoma in two related patients with BAP1 tumour predisposition syndrome caused by a novel germline BAP1 p.(Gly128Arg) missense variantFamilial Cancer

2024

The impact and future of artificial intelligence in medical genetics and molecular medicineFunctional and Integrative Genomics

2022

Universal tumor screening in a population with MSH6- and PMS2-associated Lynch syndromeGenetics in Medicine

2021

Læknafélag Íslands – til móts við nýtt árLæknablaðið

2020

Læknafélag Íslands – til móts við nýtt árLæknablaðið

2018

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous diseaseNature Communications
Landinu og læknum til gagns og blessunar í 100 árLæknablaðið
Landinu og læknum til gagns og blessunar í 100 árLæknablaðið
Nýliðun læknaLæknablaðið
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.Nature Communications

2017

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPABMC Medical Genetics
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPABMC Medical Genetics
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sistersBMC Medical Genetics
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPABMC Medical Genetics
Miklar kröfur gerðar til læknaLæknablaðið
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.Nature Communications
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2Nature Communications
Fabry Disease in Families with Hypertrophic CardiomyopathyCirculation: Cardiovascular Genetics
Miklar kröfur geroar til læknaLaeknabladid

2015

Susceptibility allele-specific loss of miR-1324-mediated silencing of the INO80B chromatinassembly complex gene in pre-eclampsiaHuman Molecular Genetics
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry diseaseOrphanet Journal of Rare Diseases

2014

Erfðaráðgjöf á meðgönguLaeknabladid
Nýting erfðaupplýsinga - SkálholtsumræðanLaeknabladid
Erfdarádgjöf og sálfélagslegir pættirLaeknabladid
Fjölskyldusaga og ættartréLaeknabladid

2013

Association of morbus ledderhose with dupuytren's contractureFoot and Ankle International
Iceland - Genetic counseling servicesJournal of Genetic Counseling
Association of HLA-DRB1*01 with Dupuytren's diseaseScandinavian Journal of Rheumatology

2012

Ehlers-Danlos-heilkenni af gero IV. Sjúkratilfelli og sjúkdómseinkenniLaeknabladid
Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxiaBMJ Case Reports

2008

C-reactive protein is elevated 30 years after eclamptic pregnancyHypertension

2005

Epigenetics of hypertension in pregnancyNature Genetics
Cardiovascular death in women who had hypertension in pregnancyBJOG: An International Journal of Obstetrics and Gynaecology

2003

Guillaume Dupuytren and finger contracturesLancet

2002

Fólasínnotkun barnshafandi kvenna fyrir þungun og á meðgönguLæknablaðið
Genetic epidemiologic aspects of gastric cancer in IcelandJournal of the American College of Surgeons
Phase I safety assessment of intrathecal ketorolacPain
Increased total mortality and cancer mortality in men with Dupuytren's diseaseJournal of Clinical Epidemiology
Preeclampsia
Searching for preeclampsia genesEuropean Journal of Obstetrics and Gynecology and Reproductive Biology
Linkage and association studies of IL1b and IL1RN gene polymorphisms in preeclampsiaHypertension in Pregnancy

2001

Eighteen years follow-up study of the clinical manifestations and progression of Dupuytren's diseaseScandinavian Journal of Rheumatology
Mutations in the gene for methylenetetrahydrofolate reductase, homocysteine levels, and vitamin status in women with a history of preeclampsiaAmerican Journal of Obstetrics and Gynecology
Polymorphisms in the tumor necrosis factor and lymphotoxin-α gene region and preeclampsiaObstetrics and Gynecology
Dupuytren's disease, alcohol consumption and alcoholismScandinavian Journal of Primary Health Care
A genome-wide scan for preeclampsia in the NetherlandsEuropean Journal of Human Genetics
MODY in Iceland is associated with mutations in HNF-1α and a novel mutation in NeuroD1Diabetologia

2000

Krabbameinsrannsóknir á Íslandi og klínísk erfðamengisfræðiLæknablaðið
Dyslipoproteinaemia in postmenopausal women with a history of eclampsiaBritish Journal of Obstetrics and Gynaecology
Epidemiology of Dupuytren's diseaseJournal of Clinical Epidemiology

1999

Prevalence of joint complaints amongst individuals with Dupuytren's disease - From the Reykjavik studyScandinavian Journal of Rheumatology
Tækniþróun og nýjungar í heilbrigðiskerfinuLæknablaðið
A genome-wide scan reveals a maternal susceptibility locus for pre-eclampsia on chromosome 2p13Human Molecular Genetics

1998

Prediction of liability to orofacial clefting using genetic and craniofacial data from parentsJournal of Medical Genetics
T- and B-lymphocyte subsets in patients with Dupuytren's diseaseJournal of Hand Surgery: European Volume
Um rannsóknarferliðLæknablaðið
Familial preeclampsia syndrome during and outwith pregnancy. Clinical and genetic considerations

1997

A novel pattern of oculocerebral malformationBritish Journal of Ophthalmology
Vísindastarf á tímamótumLæknablaðið
Evidence for a familial pregnancy-induced hypertension locus in the eNOS-gene regionAmerican Journal of Human Genetics

1996

Familial hemiplegic migraine in the west of ScotlandJournal of Neurology Neurosurgery and Psychiatry

1995

Death rates from ischemic heart disease in women with a history of hypertension in pregnancyActa Obstetricia et Gynecologica Scandinavica
Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 geneHuman Molecular Genetics
Analysis of various inheritance patterns in preeclampsia syndromePregnancy Hypertension
Analysis of different inheritance patterns in preeclampsia/eclampsia syndromeHypertension in Pregnancy

1994

Skimun fyrir litningagöllum : ávinningur fyrir samfélagið?Læknablaðið
Falling population incidence of eclampsia; A case‐control study of short term outcomeActa Obstetricia et Gynecologica Scandinavica
Abscence of close linkage of renin gene restriction fragment length polymorphism and preeclampsiaActa Obstetricia et Gynecologica Scandinavica
Renin gene restriction fragment length polymorphisms do not show linkage with preeclampsia and eclampsiaActa Obstetricia et Gynecologica Scandinavica
Erfðir og krabbameinLæknablaðið
Is genetic susceptibility for pre-eclampsia and eclampsia associated with implantation failure and fetal demise?The Lancet
Stökkbreytingin ΔF508 greind í sjúklingum með cystic fibrosisLæknablaðið

1993

Sex ratios in families of women ascertained by a toxaemic pregnancyBritish Journal of Obstetrics and Gynaecology
Dyskeratosis congenitaJournal of Medical Genetics
AngiotensinogenNature Genetics

1992

Open randomized comparison of prostaglandin E₂ given by intracervical gel or vagitory for preinduction cervical ripening and induction of laborObstetrical and Gynecological Survey

1990

Genetic and familial predisposition to eclampsia and pre‐eclampsia in a defined populationBJOG: An International Journal of Obstetrics & Gynaecology
Inheritance and family patterns in pre-eclampsia and eclampsiaContemporary Reviews in Obstetrics and Gynaecology

Keywords for Specialisation:

Medical and Clinical Genetics

Medical Faculty

Molecular genetics

Population genetics and genomics

Genetic epidemiology

Genetics of complex traits