B. Orrison

发表

Induction of major histocompatibility class I antigens by interferons in undifferentiated F9 cells

K. Ozato, P. Lazarovici, Y. Wan, 1987, Journal of cellular physiology.

Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.

R. Nussbaum, R. Lewis, S. Suchy, 1998, Molecular genetics and metabolism.

Synaptic Vesicle Depletion Correlates with Attenuated Synaptic Responses to Prolonged Repetitive Stimulation in Mice Lacking α-Synuclein

Richard Paylor, Robert L Nussbaum, Bai Lu, 2002, The Journal of Neuroscience.

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1

A. C. Chinault, R. Nussbaum, P. Jänne, 1997, Human Genetics.

Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.

J. Marini, B. Orrison, Qin Wang, 1993, The Journal of biological chemistry.

Primary cultures of rat pancreatic acinar cells in serum-free medium

N. Kretchmer, P. Brannon, B. Orrison, 2007, In Vitro Cellular & Developmental Biology.

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.

R. Nussbaum, R. Lewis, S. Suchy, 1997, American journal of human genetics.

Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model.

R. Nussbaum, K. Usdin, A. Entezam, 2007, Gene.

Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element.

A. Dehejia, M. Polymeropoulos, R. Nussbaum, 2001, Genome research.

Transgenic mice expressing S129 phosphorylation mutations in α-synuclein

R. Nussbaum, B. Giasson, Y. Kuo, 2014, Neuroscience Letters.

Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes.

R. Nussbaum, B. Bruneau, Richard J Smeyne, 2010, Human molecular genetics.

Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human α-synuclein in transgenic mouse brain

D. Ge, R. Nussbaum, C. Linnertz, 2009, Human molecular genetics.

A de novo G+1 → a mutation at the α2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI Type IV proband

J. Marini, J. Filie, B. Orrison, 1993, Human mutation.

A De Now W 1 + A Mutation at the &!(I) Exon I6 cDNA of One Allele of an 0 1 Type IV Proband plice Donor Site causes Skipping of Exon 16 in the

J. Marini, J. Filie, B. Orrison, 2005 .

Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype.

J. Marini, B. Orrison, Q. Wang, 1993, The Journal of biological chemistry.

Mouse major histocompatibility class I gene expression begins at midsomite stage and is inducible in earlier-stage embryos by interferon.

K. Ozato, Y. Wan, B. Orrison, 1985, Proceedings of the National Academy of Sciences of the United States of America.

New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.

S. Kaler, H. Saal, J. Marini, 1992, American journal of medical genetics.