Regulation of Gene Expression in the Mammalian Eye and Its Relevance to Eye Disease
Scheetz, Todd E., Kim, Kwang-Youn A., Swiderski, Ruth E., Philp, Alisdair R., Braun, Terry A., Knudtson, Kevin L., Dorrance, Anne M., DiBona, Gerald F., Huang, Jian, Casavant, Thomas L., Sheffield, Val C., Stone, Edwin M.
Published in Proceedings of the National Academy of Sciences - PNAS (26.09.2006)
Published in Proceedings of the National Academy of Sciences - PNAS (26.09.2006)
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A Knockin Mouse Model of the Bardet-Biedl Syndrome 1 M390R Mutation Has Cilia Defects, Ventriculomegaly, Retinopathy, and Obesity
Davis, Roger E., Swiderski, Ruth E., Rahmouni, Kamal, Nishimura, Darryl Y., Mullins, Robert F., Agassandian, Khristofor, Philp, Alisdair R., Searby, Charles C., Andrews, Michael P., Thompson, Stewart, Berry, Christopher J., Thedens, Daniel R., Yang, Baoli, Weiss, Robert M., Cassell, Martin D., Stone, Edwin M., Sheffield, Val C.
Published in Proceedings of the National Academy of Sciences - PNAS (04.12.2007)
Published in Proceedings of the National Academy of Sciences - PNAS (04.12.2007)
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Visual Impairment in the Absence of Dystroglycan
Satz, Jakob S, Philp, Alisdair R, Nguyen, Huy, Kusano, Hajime, Lee, Jane, Turk, Rolf, Riker, Megan J, Hernandez, Jasmine, Weiss, Robert M, Anderson, Michael G, Mullins, Robert F, Moore, Steven A, Stone, Edwin M, Campbell, Kevin P
Published in The Journal of neuroscience (21.10.2009)
Published in The Journal of neuroscience (21.10.2009)
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Delivery Of Cascade Screening For Hereditary Conditions: A Scoping Review Of The Literature
Roberts, Megan C, Dotson, W David, DeVore, Christopher S, Bednar, Erica M, Bowen, Deborah J, Ganiats, Theodore G, Green, Ridgely Fisk, Hurst, Georgia M, Philp, Alisdair R, Ricker, Charité N, Sturm, Amy C, Trepanier, Angela M, Williams, Janet L, Zierhut, Heather A, Wilemon, Katherine A, Hampel, Heather
Published in Health Affairs (01.05.2018)
Published in Health Affairs (01.05.2018)
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Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes
Hjortshøj, Tina Duelund, Grønskov, Karen, Philp, Alisdair R, Nishimura, Darryl Y, Riise, Ruth, Sheffield, Val C, Rosenberg, Thomas, Brøndum-Nielsen, Karen
Published in Human mutation (01.04.2010)
Published in Human mutation (01.04.2010)
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Identical mutation in a novel retinal gene causes progressive rod–cone degeneration in dogs and retinitis pigmentosa in humans
Zangerl, Barbara, Goldstein, Orly, Philp, Alisdair R., Lindauer, Sarah J.P., Pearce-Kelling, Susan E., Mullins, Robert F., Graphodatsky, Alexander S., Ripoll, Daniel, Felix, Jeanette S., Stone, Edwin M., Acland, Gregory M., Aguirre, Gustavo D.
Published in Genomics (San Diego, Calif.) (01.11.2006)
Published in Genomics (San Diego, Calif.) (01.11.2006)
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Visual function testing: A quantifiable visually guided behavior in mice
Thompson, Stewart, Philp, Alisdair R., Stone, Edwin M.
Published in Vision research (Oxford) (01.02.2008)
Published in Vision research (Oxford) (01.02.2008)
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Divergent Phenotypes of Vision and Accessory Visual Function in Mice with Visual Cycle Dysfunction (Rpe65rd12) or Retinal Degeneration (rd/rd)
Thompson, Stewart, Mullins, Robert F, Philp, Alisdair R, Stone, Edwin M, Mrosovsky, N
Published in Investigative ophthalmology & visual science (01.06.2008)
Published in Investigative ophthalmology & visual science (01.06.2008)
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Novel retinal photoreceptors
Soni, Bobby G, Philp, Alisdair R, Foster, Russell G, Knox, Barry E
Published in Nature (London) (02.07.1998)
Published in Nature (London) (02.07.1998)
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Vertebrate ancient (VA) opsin and extraretinal photoreception in the Atlantic salmon (Salmo salar)
Philp, A R, Garcia-Fernandez, J M, Soni, B G, Lucas, R J, Bellingham, J, Foster, R G
Published in Journal of experimental biology (01.06.2000)
Published in Journal of experimental biology (01.06.2000)
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Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients
Hjortshøj, Tina Duelund, Grønskov, Karen, Philp, Alisdair R., Nishimura, Darryl Y., Adeyemo, Adebowale, Rotimi, Charles N., Sheffield, Val C., Rosenberg, Thomas, Brøndum-Nielsen, Karen
Published in American journal of medical genetics. Part A (15.02.2008)
Published in American journal of medical genetics. Part A (15.02.2008)
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A novel rod-like opsin isolated from the extra-retinal photoreceptors of teleost fish
Philp, Alisdair R., Bellingham, James, Garcia-Fernandez, Josè-M., Foster, Russell G.
Published in FEBS letters (25.02.2000)
Published in FEBS letters (25.02.2000)
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Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene
Sundaresan, Periasamy, Sil, Asim Kumar, Philp, Alisdair R, Randolph, Mary A, Natchiar, Govindappa, Namperumalsamy, Perumalsamy
Published in Molecular vision (27.12.2004)
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Published in Molecular vision (27.12.2004)
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Rod photopigment deficits in albinos are specific to mammals and arise during retinal development
GRANT, SIMON, PATEL, NEHA N., PHILP, ALISDAIR R., GREY, CHARLOTTE N.B., LUCAS, RICHARD D., FOSTER, RUSSELL G., BOWMAKER, JAMES K., JEFFERY, GLEN
Published in Visual neuroscience (01.03.2001)
Published in Visual neuroscience (01.03.2001)
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Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian BardetaBiedl syndrome patients
HjortshA,j Tina Duelund, GrA, nskov Karen, Philp, Alisdair R, Nishimura, Darryl Y, Adeyemo, Adebowale, Rotimi, Charles N, Sheffield, Val C, Rosenberg, Thomas, BrA, ndum-Nielsen Karen
Published in American journal of medical genetics. Part A (15.02.2008)
Published in American journal of medical genetics. Part A (15.02.2008)
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Journal Article
Identical Mutation in a Novel Retinal Gene Causes Progressive Rod-Cone Degeneration (prcd) in Dogs and Retinitis Pigmentosa in Man
Zangerl, Barbara, Goldstein, Orly, Philp, Alisdair R., Lindauer, Sarah J.P., Pearce-Kelling, Susan E., Mullins, Robert F., Graphodatsky, Alexander S., Ripoll, Daniel, Felix, Jeanette S., Stone, Edwin M., Acland, Gregory M., Aguirre, Gustavo D.
Published in Genomics (San Diego, Calif.) (30.08.2006)
Published in Genomics (San Diego, Calif.) (30.08.2006)
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