Výsledky vyhledávání - "William H. Murphey"

Ophthalmologic Screening of Deaf Students in Oregon

Autor: Maurine Otos, William H. Murphey, Richard G. Weleber, Mitchell V Brinks, William Cardwell

Publikováno v: Journal of Pediatric Ophthalmology & Strabismus. 38:11-15

Purpose: 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 the amount of existing ophthalmologic surveillance of this population. A special em

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06f06239d0c1b02fb935dd456f5e7d34
https://doi.org/10.3928/0191-3913-20010101-06

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Characterization of the Ocular Phenotype of Duchenne and Becker Muscular Dystrophy

Autor: Berkley R. Powell, Peter N. Ray, William H. Murphey, Carole M. Panton, Richard G. Weleber, Maria A. Musarella, Carol A. Westall, De-Ann M. Pillers, Dayle A. Sigesmund, Elise Heon

Publikováno v: Ophthalmology. 101:856-865

Purpose: 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 to define completely the ocular phenotype associated with mutations at Xp21, the D

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45d154ef4d0b22a7163055d57ac14c78
https://doi.org/10.1016/s0161-6420(13)31249-4

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A Heterozygous Putative Null Mutation in ROM1 without a Mutation in Peripherin/RDS in a Family with Retinitis Pigmentosa

Autor: Debora B. Farber, Michael Danciger, Samuel G. Jacobson, Toshihiro Yajima, Hitoshi Sakuma, Keiko Fujiki, William H. Murphey, J. Donald M. Gass, Artur V. Cideciyan, George Inana, Mutsuko Hayakawa, Yoshihiro Hotta, Akira Murakami, Richard G. Weleber, Y. Q. Gao

Publikováno v: Genomics. 27:384-386

ROM1 is a 351-amino-acid, 37-kDa outer segment membrane protein of rod photoreceptors. ROM1 is related to peripherin/RDS, another outer segment membrane protein found in both rods and cones. The precise function of ROM1 or peripherin/RDS is not known

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7ce5c32ef3c285a1e9626e4d7d7a780
https://doi.org/10.1006/geno.1995.1066

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Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

Autor: Dante M. LaMorticella, William H. Murphey, Patricia L. Kramer, Michael Litt, Everett W. Lovrien, Richard G. Weleber

Publikováno v: Human molecular genetics. 7(3)

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; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e02617e98af320dfe4b57365b01dbe1b
https://pubmed.ncbi.nlm.nih.gov/9467006

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X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR

Autor: William H. Murphey, Noah S. Butler, Richard G. Weleber, Edwin M. Stone, Val C. Sheffield

Publikováno v: Archives of ophthalmology (Chicago, Ill. : 1960). 115(11)

Background: Mutations in the RPGR gene at the RP3 locus have been found to cause X-linked retinitis pigmentosa in some families. Objectives: To identify a previously undescribed 2-base pair insertion in codon 99 of the RPGR gene and to describe the p

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https://pubmed.ncbi.nlm.nih.gov/9366675

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Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3

Autor: Roque D. Carrero-Valenzuela, William H. Murphey, Michael L. Klein, Richard G. Weleber, Michael Litt

Publikováno v: Archives of ophthalmology (Chicago, Ill. : 1960). 114(6)

Sorbsy fundus dystrophy (SFD) is an autosomal dominant disorder that is characterized by bilateral loss of central vision secondary to choroidal neovascularization and/or pigment epithelial atrophy in the macula, with onset of visual symptoms usually

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ed113a653ad7b755a2d2de6056eaf37
https://pubmed.ncbi.nlm.nih.gov/8639088

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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

Autor: Edwin M. Stone, Ronald E. Carr, Richard G. Weleber, Val C. Sheffield, William H. Murphey

Publikováno v: Archives of Ophthalmology. 111:1531

Background and Objectives: Mutations of the peripherin/RDSgene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, and retinitis punctata albescens. We report herein the occurrence of three separate phenotypes wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c279b55919a4877d65e3aa876348fcf
https://doi.org/10.1001/archopht.1993.01090110097033

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Neonatal Hypothyroidism Detected by the Northwest Regional Screening Program

Autor: Stephen H. LaFranchi, William H. Murphey, Thomas P. Foley, P. Reed Larsen, Neil R.M. Buist

Publikováno v: Pediatrics. 63:180-191

The Northwest Regional Screening Program to detect congenital hypothyroidism in infants born in Oregon, Montana, Alaska, and Idaho (combined birthrate of 69,000/yr) was added to our ongoing screening program in 1975. The program utilizes dried blood

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https://doi.org/10.1542/peds.63.2.180

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A Pilot Newborn Screening for Congenital Adrenal Hyperplasia in Alaska*

Autor: Antonette Leon, Stephen H. LaFranchi, Maria I. New, Lenore S. Levine, Songya Pang, David A. Spence, Ali S. Surve, William H. Murphey

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 55:413-420

A pilot newborn screening program for 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) was conducted in Alaska using a 3-mm disc filter paper elution technique of capillary whole blood for 17-hydroxyprogesterone (17-OHP) by RIA. The fil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bf0d95dca71acca7fe8fc4279fd2ab7
https://doi.org/10.1210/jcem-55-3-413

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