Elise Orhan

Paris, 75012, France

Last Updated: 09/26/2026

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Found 12 publications

Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy.

Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy.

Journal: International journal of molecular sciences

Published: April 26, 2021

A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency.

A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency.

Journal: International journal of molecular sciences

Published: March 29, 2021

Functional expression of complement factor I following AAV-mediated gene delivery in the retina of mice and human cells.

Functional expression of complement factor I following AAV-mediated gene delivery in the retina of mice and human cells.

Journal: Gene therapy

Published: September 25, 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

Genotypic and phenotypic characterization of P23H line 1 rat model.

Genotypic and phenotypic characterization of P23H line 1 rat model.

Journal: PloS one

Published: January 21, 2015

LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation.

LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation.

Journal: The European journal of neuroscience

Published: November 25, 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

Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness.

Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness.

Journal: Investigative ophthalmology & visual science

Published: November 14, 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

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.

Journal: American journal of human genetics

Published: July 20, 2012

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Journal: American journal of human genetics

Published: October 20, 2011

Showing 1-12 of 12

Last Updated: 09/26/2026