Lista de obras - Magnus D Vigeland - Dominio Público Uruguay

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

artículo científico publicado en 2016

A general approach to power calculation for relationship testing.

artículo científico publicado en 2013

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.

artículo científico publicado en 2018

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

artículo científico publicado en 2016

A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome

artículo científico publicado en 2021

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis

article

Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease

artículo científico publicado en 2019

DNA methylation and gene expression changes in monozygotic twins discordant for psoriasis: identification of epigenetically dysregulated genes

artículo científico publicado en 2012

Evaluating the statistical power of DNA-based identification, exemplified by 'The missing grandchildren of Argentina'.

artículo científico

Evidence for adaptive evolution of low-temperature stress response genes in a Pooideae grass ancestor

artículo científico publicado en 2013

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.

artículo científico publicado en 2016

FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector.

artículo científico publicado en 2016

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

artículo científico publicado en 2018

Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.

artículo científico publicado en 2015

Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures.

artículo científico publicado en 2017

Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease

artículo científico publicado en 2019

Joint DNA-based disaster victim identification

scientific article published on 01 July 2021

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B

scientific article published on 01 March 2015

Mitochondrial genome-wide association study of migraine - the HUNT Study

artículo científico publicado en 2020

Mixtures with relatives and linked markers

scientific article published on 27 November 2015

Mixtures with relatives: a pedigree perspective

scientific article published on 31 January 2014

Neuronal and glial DNA methylation and gene expression changes in early epileptogenesis

scientific article published on 30 December 2019

Novel UCHL1 mutations reveal new insights into ubiquitin processing

artículo científico publicado en 2016

Novel UCHL1 mutations reveal new insights into ubiquitin processing

artículo científico publicado en 2017

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

artículo científico publicado en 2017

Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

artículo científico publicado en 2016

Relatedness coefficients in pedigrees with inbred founders

artículo científico publicado en 2020

Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan.

artículo científico publicado en 2016

TFPI alpha and beta regulate mRNAs and microRNAs involved in cancer biology and in the immune system in breast cancer cells

artículo científico publicado en 2012

The Atlantic salmon genome provides insights into rediploidization

artículo científico publicado en 2016

Lista de obras de Magnus D Vigeland

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

A general approach to power calculation for relationship testing.

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis

Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease

DNA methylation and gene expression changes in monozygotic twins discordant for psoriasis: identification of epigenetically dysregulated genes

Evaluating the statistical power of DNA-based identification, exemplified by 'The missing grandchildren of Argentina'.

Evidence for adaptive evolution of low-temperature stress response genes in a Pooideae grass ancestor

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.

FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector.

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.

Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures.

Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease

Joint DNA-based disaster victim identification

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B

Mitochondrial genome-wide association study of migraine - the HUNT Study

Mixtures with relatives and linked markers

Mixtures with relatives: a pedigree perspective

Neuronal and glial DNA methylation and gene expression changes in early epileptogenesis

Novel UCHL1 mutations reveal new insights into ubiquitin processing

Novel UCHL1 mutations reveal new insights into ubiquitin processing

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

Relatedness coefficients in pedigrees with inbred founders

Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan.

TFPI alpha and beta regulate mRNAs and microRNAs involved in cancer biology and in the immune system in breast cancer cells

The Atlantic salmon genome provides insights into rediploidization