Marie-elise Lancelot

Paris, 75012, France

Last Updated: 09/26/2026

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Found 14 publications

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.

Journal: International journal of molecular sciences

Published: March 13, 2022

CHM mutation spectrum and disease: An update at the time of human therapeutic trials.

CHM mutation spectrum and disease: An update at the time of human therapeutic trials.

Journal: Human mutation

Published: July 16, 2020

WDR34, a candidate gene for non-syndromic rod-cone dystrophy.

WDR34, a candidate gene for non-syndromic rod-cone dystrophy.

Journal: Clinical genetics

Published: June 05, 2020

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

Journal: Human molecular genetics

Published: April 03, 2017

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

Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy.

Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy.

Journal: BioMed research international

Published: June 27, 2014

Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.

Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.

Journal: Biochimica et biophysica acta

Published: February 12, 2014

Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB).

Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB).

Journal: PloS one

Published: December 23, 2013

Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.

Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.

Journal: American journal of human genetics

Published: December 20, 2013

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

Journal: Human molecular genetics

Published: October 29, 2013

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

Journal: Human molecular genetics

Published: September 13, 2013

Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.

Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.

Journal: International journal of molecular sciences

Published: May 14, 2013

Showing 1-12 of 14

Last Updated: 09/26/2026