Search Results - "Arnould, Véronique J."

Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies by Devuyst, Olivier, Arnould, Véronique J.

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Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12 by Kerrison, John B., Koenekoop, Robert K., Arnould, Véronique J., Zee, David, Maumenee, Irene H.

“…To describe the clinical features of a large pedigree with autosomal dominant congenital nystagmus linked to chromosome 6p12. In a prospective evaluation of 54…”
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A Gene for Autosomal Dominant Congenital Nystagmus Localizes to 6p12 by Kerrison, John B., Arnould, Véronique J., Barmada, M.Michael, Koenekoop, Robert K., Schmeckpeper, Barbara J., Maumenee, Irene H.

“…Congenital nystagmus is an idiopathic disorder characterized by bilateral ocular oscillations usually manifest during infancy. Vision is typically decreased…”
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Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3 by Kerrison, J B, Arnould, V J, Ferraz Sallum, J M, Vagefi, M R, Barmada, M M, Li, Y, Zhu, D, Maumenee, I H

“…To evaluate a family with autosomal dominant optic atrophy, which has been previously linked to the Kidd blood group. Clinical evaluation with the assessment…”
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