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Dominique Marchant

Necker-Enfants Malades Hospital

23

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840

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A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.

2007 Human Mutation
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Eight previously unidentified mutations found in the OA1 ocular albinism gene

2006 BMC Medical Genetics
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VEGF and KDR gene expression during human embryonic and fetal eye development.

2004 Investigative Ophthalmology & Visual Science
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Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the "Mowat-Wilson" syndrome.

2004 Neurobiology of Disease
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Prosaposin Gene Expression in Normal and Dystrophic RCS Rat Retina

2004 Investigative Ophthalmology & Visual Science
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The β3 Integrin Gene is Expressed at High Levels in the Major Haematopoietic and Lymphoid Organs, Vascular System, and Skeleton During Mouse Embryo Development

2003 Cell Communication and Adhesion
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Major role of BAX in apoptosis during retinal development and in establishment of a functional postnatal retina

2003 Developmental Dynamics
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Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy

2002 Ophthalmic Genetics
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New Splicing-site Mutations in the SURF1Gene in Leigh Syndrome Patients

2001 Journal of Biological Chemistry
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Mutation analysis of the tyrosinase gene in oculocutaneous albinism.

2001 Human Mutation
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Citations (8)