Lista de obras - Bjørn Ivar Haukanes - Dominio Público Uruguay

A Mother and Daughter with Unexplained Renal Failure

artículo científico publicado en 2011

A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss

scientific article published on 15 August 2018

A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy

artículo científico publicado en 2016

Action of spermidine, N1 -acetylspermidine, and N8 acetylspermidine at apurinic sites in DNA

artículo científico publicado en 1990

Analysis of cleavage products of DNA repair enzymes and other nucleases. Characterization of an apurinic/apyrimidinic specific endonuclease from mouse plasmacytoma cells.

artículo científico publicado en 1988

Antibody to CCDC104 is associated with a paraneoplastic antibody to CDR2 (anti-Yo).

artículo científico publicado en 2010

Application of magnetic beads in bioassays.

artículo científico publicado en 1993

Applications of magnetic beads with covalently attached oligonucleotides in hybridization: isolation and detection of specific measles virus mRNA from a crude cell lysate.

artículo científico publicado en 1990

BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study.

artículo científico publicado en 2015

CDR2 antigen and Yo antibodies

artículo científico publicado en 2010

CDR2L Antibodies: A New Player in Paraneoplastic Cerebellar Degeneration

artículo científico publicado en 2013

Characterization of HIV-1 reverse transcriptase with antibodies indicates conformational differences between the RNAse H domains of p 66 and p 15.

artículo científico publicado en 1993

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers

artículo científico publicado en 2010

Damage Specific Mammalian Endonucleases ⬇️

artículo científico publicado el 1 de enero de 1990

Deep exploration of a <i>CDKN1C</i> mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay

artículo científico publicado en 2020

Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.

artículo científico publicado en 2017

Familial diarrhea syndrome caused by an activating GUCY2C mutation.

artículo científico publicado en 2012

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

artículo científico publicado en 2017

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

artículo científico publicado en 2017

Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.

artículo científico publicado en 2014

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

artículo científico publicado en 2013

Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism

artículo científico publicado en 2010

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay

artículo científico publicado en 2013

Optimal conditions for hybridization with oligonucleotides: A study with myc-oncogene DNA probes

artículo científico publicado en 1988

Paraneoplastic syndrome-associated neuronal antibodies in adult ADHD.

artículo científico publicado en 2015

Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate

Properties and mechanism of action of eukaryotic 3-methyladenine-DNA glycosylases

artículo científico publicado en 1987

Purification to homogeneity and characterization of a redoxyendonuclease from calf thymus

artículo científico publicado en 1992

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity

artículo científico publicado en 2014

Substrate specificity of 3-methyladenine-DNA glycosylase from calf thymus

artículo científico publicado en 1987

Lista de obras de Bjørn Ivar Haukanes

A Mother and Daughter with Unexplained Renal Failure

A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss

A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy

Action of spermidine, N1 -acetylspermidine, and N8 acetylspermidine at apurinic sites in DNA

Analysis of cleavage products of DNA repair enzymes and other nucleases. Characterization of an apurinic/apyrimidinic specific endonuclease from mouse plasmacytoma cells.

Antibody to CCDC104 is associated with a paraneoplastic antibody to CDR2 (anti-Yo).

Application of magnetic beads in bioassays.

Applications of magnetic beads with covalently attached oligonucleotides in hybridization: isolation and detection of specific measles virus mRNA from a crude cell lysate.

BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study.

CDR2 antigen and Yo antibodies

CDR2L Antibodies: A New Player in Paraneoplastic Cerebellar Degeneration

Characterization of HIV-1 reverse transcriptase with antibodies indicates conformational differences between the RNAse H domains of p 66 and p 15.

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers

Damage Specific Mammalian Endonucleases ⬇️

Deep exploration of a <i>CDKN1C</i> mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay

Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.

Familial diarrhea syndrome caused by an activating GUCY2C mutation.

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay

Optimal conditions for hybridization with oligonucleotides: A study with myc-oncogene DNA probes

Paraneoplastic syndrome-associated neuronal antibodies in adult ADHD.

Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate

Properties and mechanism of action of eukaryotic 3-methyladenine-DNA glycosylases

Purification to homogeneity and characterization of a redoxyendonuclease from calf thymus

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity

Substrate specificity of 3-methyladenine-DNA glycosylase from calf thymus