Anna M. Siemiatkowska

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 13 publications

Effects of Overexpression of Fibroblast Growth Factor 15/19 on Hepatic Drug Metabolizing Enzymes.

Effects of Overexpression of Fibroblast Growth Factor 15/19 on Hepatic Drug Metabolizing Enzymes.

Journal: Drug metabolism and disposition: the biological fate of chemicals
Published: February 10, 2021

Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.

Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.

Journal: Ophthalmic genetics
Published: April 01, 2016

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.

Journal: Human molecular genetics
Published: August 30, 2014

Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.

Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.

Journal: Cold Spring Harbor perspectives in medicine
Published: June 19, 2014

IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.

IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.

Journal: Investigative ophthalmology & visual science
Published: May 31, 2014

Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.

Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.

Journal: JAMA ophthalmology
Published: May 17, 2014

Prenylation defects in inherited retinal diseases.

Prenylation defects in inherited retinal diseases.

Journal: Journal of medical genetics
Published: January 10, 2014

Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.

Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.

Journal: Acta ophthalmologica
Published: January 08, 2014

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.

Journal: Molecular vision
Published: December 03, 2013

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

Journal: Ophthalmology
Published: April 22, 2013

A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen.

A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen.

Journal: Molecular vision
Published: September 26, 2012

Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family.

Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family.

Journal: Molecular vision
Published: March 26, 2012
Showing 1-12 of 13

Last Updated: 09/26/2026