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Føroysk íleguskrá vísir títtleika av ymsum íleguvariantum

• gransking.fo
• Grein
• 2022

Í nýggjari vísindaligari grein í tíðarritinum, European Journal of Human Genetics, verður ein skrá nú løgd fram, sum vísir títtleikan av ymsum íleguvariantum í Føroyum, og er hetta eitt stórt stig á leiðini at menna føroyska tilvísingargenomið.

Ny behandling for cystisk fibrose ændrer patienters liv markant

• Rigshospitalet
• Grein
• CF
• 2021

Færri innleggingar, sjáldsamari infektiónir, hægri lívsgóðska og vón um eitt longri lív. So eyðsýndar eru betringarnar fyri nógvar sjúklingar við cystiskari fibrosu við einari nýggjari viðgerð.

Ættarbond, ættarbregði og ílegur

• Kringvarp Føroya
• FarGen
• Fyrilestur
• 2021

Fyrilestur um ílegur í Føroyum.

A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

• European Journal of Human Genetics
• Vísindalig grein
• TBCD
• 2018

Here, we report the clinical, neuroradiological, and neuropathological features in eight patients originating from the Faroe Islands, who presented with an early onset, progressive encephalopathy with features of primary neurodegeneration, and a homogenous clinical course.

Expanded carrier screening: a current survey of physician utilization and attitudes

• Journal of Assisted Reproduction and Genetics
• Vísindalig grein
• 2018

The goal of this study is to evaluate current physicians’ utilization and attitudes towards ECS in current practice.

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

• European journal of human genetics
• Vísindalig grein
• 2018

This study evaluated experiences with a preconception carrier screening offer for four recessive disorders in a Dutch founder population.

Tær sjey plágurnar

• Kringvarp Føroya
• Dokumentar
• 2017

Dokumentar um ílegusjúkur í Føroyum. Lagt til rættis: Marita á Rógvi.

Skyldskapur er tættur í Føroyum

• Kringvarp Føroya
• Samrøða
• 2017

Samrøða við Guðrið Andorsdóttir, stjóra á ílegusavninum um tættan skyldskap og áhugaverdu ílegurnar hjá okkum føroyingum.

Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments

• Frontiers in Public Health
• Vísindalig grein
• 2017

In June 2015, a satellite workshop was held at the European Society of Human Genetics Conference. It was structured around two design features: (1) the provision of information from a range of perspectives and (2) small group deliberations on the key issues that governments need to consider and the benefits, risks, and challenges of implementing publicly funded whole-population preconception carrier screening.

Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?

• JIMD Reports
• Vísindalig grein
• CTD
• 2017

In this study we report Apgar scores, length and weight in newborns with PCD and newborns born to mothers with PCD compared to controls. Furthermore we report how effective different screening algorithms have been to detect newborns with PCD in the Faroe Islands.

Børnini yvirliva ikki uttan fyri móðurlív

• Kringvarp Føroya
• Samrøða
• ARPKD
• 2016

...tvær ferðir hevur Marianna gingið við børnum, sum eru deyð, stutt eftir at vera fødd. Í Vegamótinum fortelur hon, hvussu tær báðar upplivingarnar hava verið, og hvussu tær hava ávirkað gerandisdagin og hana sum persón.

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

• Journal of Inherited Metabolic Disease
• Vísindalig grein
• SUCLA2
• 2015

We report here 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported patients.

Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation

• JIMD Reports
• Vísindalig grein
• CTD
• 2015

In this study, we investigated carnitine levels in skeletal muscle, plasma, and urine as well as renal elimination kinetics before and after intermission with l-carnitine in patients

Færøernes overlevelse ligger i generne

• Kristeligt Dagblad
• Grein
• 2013

Ein stór kanningarverkætlan fer tey komandi 10 árini at kortleggja ílegurnar hjá øllum føroyingum í einum ílegusavni. Kristeligt Dagblad vitjaðu oyggjarnar í Atlantarahavinum fyri at vita, hvat føroyingar vænta at fáa burturúr við at hyggja so tætt at okkara arvafrøði.

Reytt kjøt hevur vart føroyingar móti CTD

• Vísindavøkublaðið
• Grein
• CTD
• 2013

Karnitin- ríki kosturin hevur megnað at hildið fleiri føroyingum á lívi, so teir hava rokkið vaksnan aldur. Men nú eta føroyingar minni reytt kjøt, og tí gerast fleiri sjúk av CTD.

A novel RNASEH2B splice site mutation responsible for Aicardi–Goutieres syndrome in the Faroe Islands

• Acta Pædiatrica
• Vísindalig grein
• AGS
• 2012

The aim of the study was to identify the genetic background for Aicardi–Goutieres syndrome (AGS) in the Faroe Islands.

Føroyska sjúkan

• Kringvarp Føroya
• Dokumentar
• SUCLA2
• 2009

Dokumentar um føroysku sjúkuna (SUCLA2).

Eru tú og maki tín berarar av “føroyasjúkuni”?

• in.fo
• Grein
• SUCLA2
• 2009

Grein um lívið hjá foreldrum, ið hava barn við føroysku sjúkuni (SUCLA2). Eftir Tóra Winther Reinert. Heinta fílu av hesi grein tá hon var prenta í Sosialinum: PDF

Moving up the slippery slope: Mandated genetic screening on Cyprus

• Journal of Inherited Metabolic Disease
• Vísindalig grein
• SUCLA2
• 2009

We report here 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported patients.

Føroyska sjúkan kann steðgast

• in.fo
• Grein
• SUCLA2
• 2007

Grein um hvussu føroyska SUCLA2 sjúkan var funnin.

Tre medfødte metaboliske sygdomme på Færøerne

• Ugeskrift for Læger
• Vísindalig grein
• CTD
• GSD
• HLCS
• 2006

Incidens, klinisk og molekylærgenetisk karakteristik af færøske børn med glykogen transportdefekt type IIIA, karnitintransporterdefekt og holocarboxylasesyntetasedefekt.

Highly discrepant proportions of female and male Scandinavian and British Isles ancestry within the isolated population of the Faroe Islands

• European Journal of Human Genetics
• Vísindalig grein
• 2006

In the present study we used 122 new and 19 previously published hypervariable region I sequences of the mitochondrial control region to analyse the genetic diversity of the Faroese population and compare it with other populations in the North Atlantic region. The analyses suggested that the Faroese mtDNA pool has been affected by genetic drift, and is among the most homogenous and isolated in the North Atlantic region... While previous studies have suggested an excess of Scandinavian ancestry among the male settlers of the Faroe Islands, the current study indicates an excess of British Isles ancestry among the female settlers of the Faroe Islands.

Karnitintransportørdefekt hos to færøske børn

• Ugeskrift for Læger
• Vísindalig grein
• CTD
• 2004

Karnitintransportørdefekt (CTD) er en autosomalt recessivt nedarvet fejl i karnitinstofskiftet, der kompromitterer beta- oxidationen af langkædede fedtsyrer. Dette giver en latent energimangeltilstand, som kan være dødelig. Vi beskriver den kliniske debut hos to færøske børn med CTD.

Viðfødd evnaskiftisbrek i Føroyum

• Vøka
• Grein
• CTD
• GSD
• HLCS
• NAGS
• SUCLA2
• 2003

Ulrike Steuerwald greiðir frá teimum 5 deyðiligu evnaskiftis sjúkunum, ið vóru kendar í 2003.

At liva við stoffskiftisjukuni Carnitin Transport Defect

• Vøka
• Grein
• CTD
• 2003

Samandráttur úr samrøðu vid Miriann Dam, sum er mamma til Jann Davur, ið hevur stoffskiftisjúkuna Carnitin Transport Defect.

Vil fegin halda fram í stríðnum móti CTD

• Vøka
• Grein
• CTD

Vøka er blað fyri limir í Felagnum Føroyskir Sjúkrarøktarfrøðingar. Samrøða við sjúkrarøktarfrøðing sum misti mannin til CTD.

Leitiði leingi eftri deyðsorsøkini

• Vøka
• Grein
• CTD

Vøka er blað fyri limir í Felagnum Føroyskir Sjúkrarøktarfrøðingar. Samrøða við Ulrike Steuerwald um arbeiði at finna og viðgera CTD.