Karen Nielsen-Brondum

Glostrup, 2600, Denmark

Last Updated: 09/26/2026

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Found 45 publications

A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment.

A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment.

Journal: Human molecular genetics

Published: May 02, 2024

BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.

BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.

Journal: International journal of molecular sciences

Published: December 30, 2020

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.

Journal: Genes

Published: September 28, 2020

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.

Journal: Investigative ophthalmology & visual science

Published: February 22, 2020

The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice model.

The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice model.

Journal: PloS one

Published: December 16, 2019

Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant.

Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant.

Journal: Stem cell research

Published: July 22, 2019

Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism.

Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism.

Journal: European journal of medical genetics

Published: December 17, 2018

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.

Journal: Clinical genetics

Published: August 29, 2018

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Journal: Scientific reports

Published: August 24, 2018

X-chromosome loss can be an age-related phenomenon in women

X-chromosome loss can be an age-related phenomenon in women

Journal: Ugeskrift for laeger

Published: May 29, 2018

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.

Journal: Scientific reports

Published: May 23, 2018

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C.

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C.

Journal: Stem cell research

Published: February 24, 2018

Showing 1-12 of 45

Last Updated: 09/26/2026