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List of works by Dominique Ducroq

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

scientific article published on 01 December 2003

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.

scientific article

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

scientific article (publication date: December 2002)

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype

scientific article published in February 2005

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

scientific article published in October 2002

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

scientific article

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

scientific article

The ABCA4 gene in autosomal recessive cone-rod dystrophies

scientific article published in December 2002

Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy

scientific article published on 09 August 2006

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