Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations
Yano, S, Baskin, B, Bagheri, A, Watanabe, Y, Moseley, K, Nishimura, A, Matsumoto, N, Ray, PN
Published in Clinical genetics (01.11.2011)
Published in Clinical genetics (01.11.2011)
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Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort
Yoon, G., Baskin, B., Tarnopolsky, M., Boycott, K. M., Geraghty, M. T., Sell, E., Goobie, S., Meschino, W., Banwell, B., Ray, P. N.
Published in Neurogenetics (01.11.2013)
Published in Neurogenetics (01.11.2013)
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Journal Article
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland
Moore, SJ, Buckley, DJ, MacMillan, A, Marshall, HD, Steele, L, Ray, PN, Nawaz, Z, Baskin, B, Frecker, M, Carr, SM, Ives, E, Parfrey, PS
Published in Clinical genetics (01.09.2008)
Published in Clinical genetics (01.09.2008)
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Journal Article
A novel dystrophin isoform is required for normal retinal electrophysiology
D'Souza, V N, Nguyen, T M, Morris, G E, Karges, W, Pillers, D A, Ray, P N
Published in Human molecular genetics (01.05.1995)
Published in Human molecular genetics (01.05.1995)
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Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
MCANDREW, P. E, PARSONS, D. W, SIMARD, L. R, ROCHETTE, C, RAY, P. N, MENDELL, J. R, PRIOR, T. W, BURGHES, A. H. M
Published in American journal of human genetics (01.06.1997)
Published in American journal of human genetics (01.06.1997)
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Journal Article
Dystrophin is expressed in mdx skeletal muscle fibers after normal myoblast implantation
Karpati, G, Pouliot, Y, Zubrzycka-Gaarn, E, Carpenter, S, Ray, PN, Worton, RG, Holland, P
Published in The American journal of pathology (01.07.1989)
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Published in The American journal of pathology (01.07.1989)
Journal Article
Cloning and characterization of alternatively spliced isoforms of Dp71
Austin, R C, Howard, P L, D'Souza, V N, Klamut, H J, Ray, P N
Published in Human molecular genetics (01.09.1995)
Published in Human molecular genetics (01.09.1995)
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Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations
PILLERS, D.-A. M, FITZGERALD, K. M, WELEBER, R. G, DUNCAN, N. M, RASH, S. M, WHITE, R. A, DWINNELL, S. J, POWELL, B. R, SCHNUR, R. E, RAY, P. N, CIBIS, G. W
Published in Human genetics (01.07.1999)
Published in Human genetics (01.07.1999)
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Journal Article
Frame-Shift Deletions in Patients with Duchenne and Becker Muscular Dystrophy
Malhotra, S. B., Hart, K. A., Klamut, H. J., Thomas, N. S. T., Bodrug, S. E., Burghes, A. H. M., Bobrow, M., Harper, P. S., Thompson, M. W., Ray, P. N., Worton, R. G.
Published in Science (American Association for the Advancement of Science) (04.11.1988)
Published in Science (American Association for the Advancement of Science) (04.11.1988)
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Journal Article
Localization of Dystrophin Isoform Dp71 to the Inner Limiting Membrane of the Retina Suggests a Unique Functional Contribution of Dp71 in the Retina
Howard, Perry L., Dally, Ghassan Y., Wong, Melanie H., Ho, Alex, Weleber, Richard G., Pillers, De-Ann M., Ray, Peter N.
Published in Human molecular genetics (01.09.1998)
Published in Human molecular genetics (01.09.1998)
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Journal Article
Monozygotic twins discordant for Aicardi syndrome
Costa, T, Greer, W, Rysiecki, G, Buncic, J R, Ray, P N
Published in Journal of medical genetics (01.08.1997)
Published in Journal of medical genetics (01.08.1997)
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Journal Article
Somatic reversion/suppression in Duchenne muscular dystrophy (DMD) : evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers
KLEIN, C. J, COOVERT, D. D, BULMAN, D. E, RAY, P. N, MENDELL, J. R, BURGHES, A. H. M
Published in American journal of human genetics (01.05.1992)
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Published in American journal of human genetics (01.05.1992)
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