Publications:

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.

International Journal Of Molecular Sciences

Boulanger-Scemama, Elise E; Mohand-Saïd, Saddek S; El Shamieh, Said S; Démontant, Vanessa V; Condroyer, Christel C; Antonio, Aline A; Michiels, Christelle C; Boyard, Fiona F; Saraiva, Jean-Paul JP; Letexier, Mélanie M; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I

Publication Date: 2019-09-30

Variant appearance in text: ABCA4: 5892del; G1965Efs*9

PubMed Link: 31574917

Variant Present in the following documents:

• Main text
• ijms-20-04854.pdf

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Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.

Orphanet Journal Of Rare Diseases

Boulanger-Scemama, Elise E; El Shamieh, Said S; Démontant, Vanessa V; Condroyer, Christel C; Antonio, Aline A; Michiels, Christelle C; Boyard, Fiona F; Saraiva, Jean-Paul JP; Letexier, Mélanie M; Souied, Eric E; Mohand-Saïd, Saddek S; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I

Publication Date: 2015-06-24

Variant appearance in text: ABCA4: 5892del

PubMed Link: 26103963

Variant Present in the following documents:

• Main text
• 13023_2015_Article_300.pdf

View BVdb publication page