Eight previously unidentified mutations found in the OA1 ocular albinism gene. (2006)
Mayeur, Hélène, Roche, Olivier, Vêtu, Christelle, Jaliffa, Carolina, Marchant, Dominique, Dollfus, Hélène, ...
BACKGROUND: Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal...
Eight previously unidentified mutations found in the OA1 ocular albinism gene. (2006)
Mayeur, Hélène, Roche, Olivier, Vêtu, Christelle, Jaliffa, Carolina, Marchant, Dominique, Dollfus, Hélène, ...
BACKGROUND: Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal...
Eight previously unidentified mutations found in the OA1ocular albinism gene (2006)
Mayeur, Hélène, Roche, Olivier, Vêtu, Christelle, Jaliffa, Carolina, Marchant, Dominique, Dollfus, Hélène, ...
Abstract Background Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium,...
Eight previously unidentified mutations found in the OA1 ocular albinism gene. (2006)
Mayeur, Hélène, Roche, Olivier, Vêtu, Christelle, Jaliffa, Carolina, Marchant, Dominique, Dollfus, Hélène, ...
BACKGROUND: Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal...
BIGH3 Mutation Spectrum in Corneal Dystrophies (2002)
Munier,Francis L., Frueh,Beatrice E., Othenin-Girard,Philippe, Uffer,Sylvie, Cousin,Pascal, Wang,Ming X., ...
PURPOSE. To investigate the molecular pathology underlying BIGH3-related corneal dystrophies (CDs) and to further delineate genotype-phenotype specificity. METHODS. Sixty-one index patients with CDs...
BIGH3 Mutation Spectrum in Corneal Dystrophies (2002)
Munier, Francis L., Frueh, Beatrice E., Othenin-Girard, Philippe, Uffer, Sylvie, Cousin, Pascal, Wang, Ming X., ...
PURPOSE. To investigate the molecular pathology underlying BIGH3-related corneal dystrophies (CDs) and to further delineate genotype-phenotype specificity. METHODS. Sixty-one index patients with CDs...
Guymer, Robyn H., Héon, Elise, Lotery, Andrew J., Munier, Francis L., Schorderet, Daniel F., Baird, Paul N., ...
Objectives To investigate the role of 2 specific alleles of the Stargardt disease gene (ABCA4) in the pathogenesis of age-related macular degeneration (AMD). Secondary objectives were to investigate...
An analysis of allelic variation in the ABCA4 gene (2001)
Webster, Andrew R., Héon, Elise, Lotery, Andrew J., Vandenburgh, Kimberlie, Casavant, Thomas L., Oh, Kean T., ...
Purpose: To assess the allelic variation of the ATP-binding transporter protein (ABCA4). Methods: A combination of single-strand conformation polymorphism (SSCP) and automated DNA sequencing was used...
A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22
Héon, Elise, Paterson, Andrew D., Fraser, Michael, Billingsley, Gail, Priston, Megan, Balmer, Aubin, ...
Cataracts are the leading cause of blindness in most countries. Although most hereditary cases appear to follow an autosomal dominant pattern of inheritance, autosomal recessive inheritance has been...
The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer
Héon, Elise, Priston, Megan, Schorderet, Daniel F., Billingsley, Gail D., Girard, Philippe Othenin, Lubsen, Nicolette, ...
Despite the fact that cataracts constitute the leading cause of blindness worldwide, the mechanisms of lens opacification remain unclear. We recently mapped the aculeiform cataract to the...
Eight previously unidentified mutations found in the OA1 ocular albinism gene
Mayeur, Hélène, Roche, Olivier, Vêtu, Christelle, Jaliffa, Carolina, Marchant, Dominique, Dollfus, Hélène, ...
Digenic Inheritance of Early-Onset Glaucoma: CYP1B1, a Potential Modifier Gene
Vincent, Andrea L., Billingsley, Gail, Buys, Yvonne, Levin, Alex V., Priston, Megan, Trope, Graham, ...
“Early-onset glaucoma” refers to genetically heterogeneous conditions for which glaucoma manifests at age 5–40 years and for which only a small subset is molecularly characterized. We studied...
A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22
Héon, Elise, Paterson, Andrew D., Fraser, Michael, Billingsley, Gail, Priston, Megan, Balmer, Aubin, ...
Cataracts are the leading cause of blindness in most countries. Although most hereditary cases appear to follow an autosomal dominant pattern of inheritance, autosomal recessive inheritance has been...
The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer
Héon, Elise, Priston, Megan, Schorderet, Daniel F., Billingsley, Gail D., Girard, Philippe Othenin, Lubsen, Nicolette, ...
Despite the fact that cataracts constitute the leading cause of blindness worldwide, the mechanisms of lens opacification remain unclear. We recently mapped the aculeiform cataract to the...
Eight previously unidentified mutations found in the OA1 ocular albinism gene
Mayeur, Hélène, Roche, Olivier, Vêtu, Christelle, Jaliffa, Carolina, Marchant, Dominique, Dollfus, Hélène, ...
CRYBA4, a Novel Human Cataract Gene, Is Also Involved in Microphthalmia
Billingsley, Gail, Santhiya, Sathiyavedu T., Paterson, Andrew D., Ogata, Koji, Wodak, Shoshana, Hosseini, S. Mohsen, ...
Genetic analysis of a large Indian family with an autosomal dominant cataract phenotype allowed us to identify a novel cataract gene, CRYBA4. After a genomewide screen, linkage analysis identified a...
An Essential Role for DYF-11/MIP-T3 in Assembling Functional Intraflagellar Transport Complexes
Li, Chunmei, Inglis, Peter N., Leitch, Carmen C., Efimenko, Evgeni, Zaghloul, Norann A., Mok, Calvin A., ...
MIP-T3 is a human protein found previously to associate with microtubules and the kinesin-interacting neuronal protein DISC1 (Disrupted-in-Schizophrenia 1), but whose cellular function(s) remains...