Isabelle Perrault

Affiliations

Laboratory of Genetics in Ophthalmology, Imagine Institute, Paris Descartes, Sorbonne Paris Cité University, Paris, France. isabelle.perrault@inserm.fr.

Publications (4)

Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.

Advances in experimental medicine and biology

Avec: Sabrina Mechaussier , Sandrine Marlin , Josseline Kaplan , Jean-Michel Rozet , Isabelle Perrault

Heimler Syndrome.

Advances in experimental medicine and biology

Avec: S Mechaussier , I Perrault , H Dollfus , A Bloch-Zupan , N Loundon , L Jonard , S Marlin

Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.

International journal of molecular sciences

Avec: Rene Moya , Clémentine Angée , Sylvain Hanein , Fabienne Jabot-Hanin , Josseline Kaplan , Isabelle Perrault , Jean-Michel Rozet , Lucas Fares Taie

Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.

Advances in experimental medicine and biology

Avec: Iris Barny , Isabelle Perrault , Marlène Rio , Hélène Dollfus , Sabine Defoort-Dhellemmes , Josseline Kaplan , Jean-Michel Rozet , Xavier Gerard

Réseau de co-auteurs

Josseline Kaplan 3 collaborations

Jean-Michel Rozet 3 collaborations

Sabrina Mechaussier 1 collaboration

Sandrine Marlin 1 collaboration

S Mechaussier 1 collaboration

I Perrault 1 collaboration

H Dollfus 1 collaboration

A Bloch-Zupan 1 collaboration

N Loundon 1 collaboration

L Jonard 1 collaboration

S Marlin 1 collaboration

Rene Moya 1 collaboration

Clémentine Angée 1 collaboration

Sylvain Hanein 1 collaboration

Fabienne Jabot-Hanin 1 collaboration

Lucas Fares Taie 1 collaboration

Iris Barny 1 collaboration

Marlène Rio 1 collaboration

Hélène Dollfus 1 collaboration

Sabine Defoort-Dhellemmes 1 collaboration

Xavier Gerard 1 collaboration