Search Results - "Beis, M. Jill"

Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease by Jarrett, Pamela, Easton, Alexander, Rockwood, Kenneth, Dyack, Sarah, McCollum, Alexander, Siu, Victoria, Mirsattari, Seyed M, Massot-Tarrús, Andreu, Beis, M Jill, D'Souza, Nolan, Darvesh, Sultan

“…Neuronal ceroid-lipofuscinoses are a heterogeneous group of inherited disorders in which abnormal lipopigments form lysosomal inclusion bodies in neurons. Kufs…”
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The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease by Robitaille, Johane M, Zheng, Binyou, Wallace, Karin, Beis, M Jill, Tatlidil, Cuneyt, Yang, Jenny, Sheidow, Tom G, Siebert, Lee, Levin, Alex V, Lam, Wai-Ching, Arthur, Brian W, Lyons, Christopher J, Jaakkola, Elisa, Tsilou, Ekaterini, Williams, Charles A, Weaver, Jr, Richard Grey, Shields, Carol L, Guernsey, Duane L

“…The aim of this study is to assess the role of Frizzled-4 (FZD4) in familial exudative vitreoretinopathy (FEVR) and Coats disease. Tissue samples were…”
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Phenotypic Overlap of Familial Exudative Vitreoretinopathy (FEVR) with Persistent Fetal Vasculature (PFV) Caused by FZD4 Mutations in two Distinct Pedigrees by Robitaille, Johane M., Wallace, Karin, Zheng, Binyou, Beis, M. Jill, Samuels, Mark, Hoskin-Mott, Ann, Guernsey, Duane L.

“…Purpose: To describe a severe familial exudative vitreoretinopathy (FEVR) phenotype seen in infancy that resembles persistent fetal vasculature (PFV) caused by…”
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Multilocus Linkage Identifies Two New Loci for a Mendelian Form of Stroke, Cerebral Cavernous Malformation, at 7p15–13 and 3q25.2–27 by Craig, Holly D., Günel, Murat, Cepeda, Obed, Johnson, Eric W., Ptacek, Louis, Steinberg, Gary K., Ogilvy, Christopher S., Berg, Michael J., Crawford, Stephen C., Scott, R. Michael, Steichen-Gersdorf, Elizabeth, Sabroe, Ruth, Kennedy, C. T. C., Mettler, Gabrielle, Beis, M. Jill, Fryer, Alan, Awad, Issam A., Lifton, Richard P.

“…Cerebral cavernous malformation (CCM) is a Mendelian model of stroke, characterized by focal abnormalities in small intracranial blood vessels leading to…”
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Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene by Coulter-Mackie, M B, Gagnier, L, Beis, M J, Applegarth, D A, Cole, D E, Gordon, K, Ludman, M D

“…Metachromatic leucodystrophy (MLD) is a lysosomal storage disease resulting from a deficiency of arylsulphatase A. We have identified a child with infantile…”
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