Search Results - "Murphey, William"

Dystrophin expression in the human retina is required for normal function as defined by electroretinography by Pillers, De-Ann M, Bulman, Dennis E, Weleber, Richard G, Sigesmund, Dayle A, Musarella, Maria A, Powell, Berkley R, Murphey, William H, Westall, Carol, Panton, Carole, Becker, Laurence E, Worton, Ronald G, Ray, Peter N

“…We have studied retinal function by electroretinography in five Becker and six Duchenne muscular dystrophy patients. All had abnormal electroretinograms with a…”
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Theodore Roosevelt and the Bureau of Corporation: Executive-Corporate Cooperation and the Advancement of the Regulatory State by Murphey, William

“…Theodore Roosevelt's trust policy has been viewed as "progressive" by his contemporaries, dictated by big business by the New Left, and as a precursor to…”
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Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy by Sigesmund, D A, Weleber, R G, Pillers, D A, Westall, C A, Panton, C M, Powell, B R, Héon, E, Murphey, W H, Musarella, M A, Ray, P N

“…Dystrophin, the Duchenne muscular dystrophy gene product, has been localized to the outer plexiform layer of normal human retina. The purpose of this study is…”
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Autosomal Dominant Congenital Cataract Associated with a Missense Mutation in the Human Alpha Crystallin Gene CRYAA by Litt, Michael, Kramer, Patricia, LaMorticella, Dante M., Murphey, William, Lovrien, Everett W., Weleber, Richard G.

“…Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial;…”
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Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene by Weleber, R G, Carr, R E, Murphey, W H, Sheffield, V C, Stone, E M

“…Mutations of the peripherin/RDS gene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, and retinitis punctata…”
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X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR by Weleber, R G, Butler, N S, Murphey, W H, Sheffield, V C, Stone, E M

“…Mutations in the RPGR gene at the RP3 locus have been found to cause x-linked retinitis pigmentosa in some families. To identify a previously undescribed…”
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Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3 by Carrero-Valenzuela, R D, Klein, M L, Weleber, R G, Murphey, W H, Litt, M

“…Sorbsy fundus dystrophy (SFD) is an autosomal dominant disorder that is characterized by bilateral loss of central vision secondary to choroidal…”
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Screening for congenital hypothyroidism: results of screening one million North American infants by Fisher, D A, Dussault, J H, Foley, Jr, T P, Klein, A H, LaFranchi, S, Larsen, P R, Mitchell, M L, Murphey, W H, Walfish, P G

“…Pilot programs for screening of newborn infants for congenital hypothyroidism began in North America in 1972. To date, the five oldest programs (Quebec,…”
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Neonatal screening for alpha1-antitrypsin deficiency by O'Brien, M L, Buist, N R, Murphey, W H

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Serum carnosinase deficiency concomitant with mental retardation by Murphey, W H, Lindmark, D G, Patchen, L I, Housler, M E, Harrod, E K, Mosovich, L

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Genetic heterogeneity among blue-cone monochromats by NATHANS, J, MAUMENEE, I. H, TRABOULSI, E, KLINGAMAN, R, BECH-HANSEN, N. T, LAROCHE, G. R, PAGON, R. A, MURPHEY, W. H, WELEBER, R. G, ZRENNER, E, SADOWSKI, B, SHARPE, L. T, LEWIS, R. A, HANSEN, E, ROSENBERG, T, SCHWARTZ, M, HECKENLIVELY, J. R

“…Thirty-three unrelated subjects with blue-cone monochromacy or closely related variants of blue-cone monochromacy were examined for rearrangements in the…”
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Malate Dehydrogenases. I. A Survey of Molecular Size Measured by Gel Filtration by Murphey, William, Kitto, G, Everse, Johannes, Kaplan, Nathan

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Neonatal hypothyroidism detected by the Northwest Regional Screening Program by LaFranchi, S H, Murphey, W H, Foley, Jr, T P, Larsen, P R, Buist, N R

“…The Northwest Regional Screening Program to detect congenital hypothyroidism in infants born in Oregon, Montana, Alaska, and Idaho (combined birthrate of…”
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Ophthalmologic screening of deaf students in Oregon by Brinks, M V, Murphey, W H, Cardwell, W, Otos, M, Weleber, R G

“…To determine the frequency of Usher's syndrome and other ocular disease in students receiving special education services for the deaf in Oregon and to assess…”
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A Heterozygous Putative Null Mutation in ROM1 without a Mutation in Peripherin/RDS in a Family with Retinitis Pigmentosa by Sakuma, Hitoshi, Inana, George, Murakami, Akira, Yajima, Toshihiro, Weleber, Richard G., Murphey, William H., Gass, J.Donald M., Hotta, Yoshihiro, Hayakawa, Mutsuko, Fujiki, Keiko, Gao, Yong Qing, Danciger, Michael, Farber, Debora, Cideciyan, Artur V., Jacobson, Samuel G.

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A pilot newborn screening for congenital adrenal hyperplasia in Alaska by Pang, S, Murphey, W, Levine, L S, Spence, D A, Leon, A, LaFranchi, S, Surve, A S, New, M I

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A nonlinear elastic constitutive model for wrinkled thin films by Murphey, Thomas William

“…The need for a comprehensive understanding of thin polymer film load-deformation behavior is evident as an increasing number of inflatable and deployable…”
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ON THE USE OF ULTRASTABLE OSCILLATORS AND A KALMAN FILTER TO CALIBRATE THE EARTH'S GRAVITATIONAL FIELD by LEAR, WILLIAM MURPHEY

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A nonlinear elastic constitutive model for wrinkled thin films by Murphey, Thomas William

“…The need for a comprehensive understanding of thin polymer film load-deformation behavior is evident as an increasing number of inflatable and deployable…”
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NEONATAL HYPOTHYROIDISM DETECTED BY THE OREGON REGIONAL SCREENING PROGRAM by Lafranchi, Stephen H, Murphey, William H, Buist, Neil R M, Larsen, P Reed, Foley, Thomas P

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