Cecilie Bredrup

Bergen, Norway

Last Updated: 09/26/2026

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Found 38 publications

Loss of ATRAID in Late-Onset, Non-Syndromic Retinitis Pigmentosa.

Loss of ATRAID in Late-Onset, Non-Syndromic Retinitis Pigmentosa.

Journal: Investigative ophthalmology & visual science

Published: July 08, 2026

Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction.

Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction.

Journal: HGG advances

Published: January 17, 2026

Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

Journal: European journal of human genetics : EJHG

Published: September 05, 2025

Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview.

Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview.

Journal: Clinical dysmorphology

Published: May 30, 2025

Early-Onset Stargardt Disease Caused by Homozygosity of a Complex ABCA4 Allele from Eastern Africa: Two Case Reports.

Early-Onset Stargardt Disease Caused by Homozygosity of a Complex ABCA4 Allele from Eastern Africa: Two Case Reports.

Journal: Case reports in ophthalmology

Published: April 09, 2025

'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.

'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.

Journal: Journal of medical genetics

Published: December 25, 2024

Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.

Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.

Journal: European journal of human genetics : EJHG

Published: December 10, 2024

Treatment Options for Alkali Burn-Induced Corneal Neovascularization: A Comparative Analysis of Two Tyrosine Kinase Inhibitors.

Treatment Options for Alkali Burn-Induced Corneal Neovascularization: A Comparative Analysis of Two Tyrosine Kinase Inhibitors.

Journal: Cornea

Published: December 05, 2024

Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 PDGFRB Variants and Their Role in Downstream Signaling.

Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 PDGFRB Variants and Their Role in Downstream Signaling.

Journal: Human mutation

Published: October 09, 2024

Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies.

Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies.

Journal: Investigative ophthalmology & visual science

Published: August 01, 2024

Corneal Vascularization Associated With a Novel PDGFRB Variant.

Corneal Vascularization Associated With a Novel PDGFRB Variant.

Journal: Investigative ophthalmology & visual science

Published: November 07, 2023

IC3D Classification of Corneal Dystrophies-Edition 3.

IC3D Classification of Corneal Dystrophies-Edition 3.

Journal: Cornea

Published: August 03, 2023

Showing 1-12 of 38

Last Updated: 09/26/2026