R. G. WELEBER: search on Z-Library

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1

Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)

Richard A. Spritz, Jangsuk Oh, Kazuyoshi Fukai, Stuart A. Holmes, Lingling Ho, David Chitayat, Thomas D. France, Maria A. Musarella, Seth J. Orlow, Rhonda E. Schnur, Richard G. Weleber, Alex V. Levin

Journal:

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

2

Characterization of the Ocular Phenotype of Duchenne and Becker Muscular Dystrophy

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

Journal:

Year:

1994

Language:

english

File:

PDF, 2.56 MB

english, 1994

3

Randomized Trial of Ciliary Neurotrophic Factor Delivered by Encapsulated Cell Intraocular Implants for Retinitis Pigmentosa

Birch, David G., Weleber, Richard G., Duncan, Jacque L., Jaffe, Glenn J., Tao, Weng

Journal:

American Journal of Ophthalmology

Year:

2013

Language:

english

File:

PDF, 686 KB

english, 2013

4

The Natural History of Inherited Retinal Dystrophy due to Biallelic Mutations in the RPE65 Gene

Chung, Daniel C., Bertelsen, Mette, Lorenz, Birgit, Pennesi, Mark E., Leroy, Bart P., Hamel, Christian P., Pierce, Eric, Sallum, Juliana, Larsen, Michael, Stieger, Knut, Preising, Markus, Weleber, Ric

Journal:

American Journal of Ophthalmology

Year:

2018

Language:

english

File:

PDF, 9.66 MB

english, 2018

5

Åland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia

De-Ann M. Pillers, Richard G. Weleber, Berkley R. Powell, Cheryl E. Hanna, R. Ellen Magenis, Neil R. M. Buist

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 582 KB

english, 1990

6

Neuro-Ophthalmologic and Electroretinographic Findings in Pantothenate Kinase-Associated Neurodegeneration (formerly Hallervorden-Spatz Syndrome)

Robert A. Egan, Richard G. Weleber, Penelope Hogarth, Allison Gregory, Jason Coryell, Shawn K. Westaway, Jane Gitschier, Soma Das, Susan J. Hayflick

Journal:

American Journal of Ophthalmology

Year:

2005

Language:

english

File:

PDF, 493 KB

english, 2005

7

Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia

Rodney K. Beals, Richard G. Weleber

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 77 KB

english, 2004

8

Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions

Ram K. Tripathi, Kathleen M. Strunk, Lutz B. Giebel, Richard G. Weleber, Richard A. Spritz

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 811 KB

english, 1992

9

Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene

Darryl Y. Nishimura, Ruth E. Swiderski, Charles C. Searby, Erik M. Berg, Amanda L. Ferguson, Raoul Hennekam, Saul Merin, Richard G. Weleber, Leslie G. Biesecker, Edwin M. Stone, Val C. Sheffield

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.05 MB

english, 2005

10

High-Resolution Optical Coherence Tomography Shows New Aspects of Bietti Crystalline Retinopathy

PENNESI, MARK E., WELEBER, RICHARD G.

Journal:

Year:

2010

Language:

english

File:

PDF, 575 KB

english, 2010

11

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism

Fukai, Kazuyoshi, Holmes, Stuart A., Lucchese, Neil J., Mok Siu, Victoria, Weleber, Richard G., Schnur, Rhonda E., Spritz, Richard A.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 478 KB

1995

12

Effects of Dystrophin Isoforms on Signal Transduction through Neural Retina: Genotype–Phenotype Analysis of Duchenne Muscular Dystrophy Mouse Mutants

De-Ann M. Pillers, Richard G. Weleber, Daniel G. Green, Sean M. Rash, Ghassan Y. Dally, Perry L. Howard, Michael R. Powers, Donald C. Hood, Verne M. Chapman, Peter N. Ray, William R. Woodward

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 254 KB

english, 1999

13

Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency

Melanie B. Gillingham, Richard G. Weleber, Martha Neuringer, William E. Connor, Monte Mills, Sandy van Calcar, James ver Hoeve, Jon Wolff, Cary O. Harding

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 354 KB

english, 2005

14

Segregation analysis of ocular refraction and myopia: by G.C. Ashton, Hum Hered 35:232–239, 1985

Richard G. Weleber

Journal:

Survey of Ophthalmology

Year:

1987

Language:

english

File:

PDF, 250 KB

english, 1987

15

Novel Mutations in the KCNV2 Gene in Patients with Cone Dystrophy and a Supernormal Rod Electroretinogram

Thiagalingam, Sureka, McGee, Terri L., Weleber, Richard G., Sandberg, Michael A., Trzupek, Karmen M., Berson, Eliot L., Dryja, Thaddeus P.

Journal:

Ophthalmic Genetics

Year:

2007

Language:

english

File:

PDF, 4.32 MB

english, 2007

16

Book Review

Weleber, Richard G.

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 43 KB

english, 2004

17

Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia

Ku, Cristy A., Ng, Jacqueline K., Karr, Daniel J., Reznick, Leah, Harding, Cary O., Weleber, Richard G., Pennesi, Mark E.

Journal:

Ophthalmic Genetics

Year:

2016

Language:

english

File:

PDF, 1.32 MB

english, 2016

18

The ‘dark’ side of sedation: 12 years of office-based pediatric deep sedation for electroretinography in the dark

Kirk Lalwani, Brian D. Tompkins, Kevin Burnes, Melissa R. Krahmer, Mark E. Pennesi, Richard G. Weleber

Journal:

Pediatric Anesthesia

Year:

2011

Language:

english

File:

PDF, 309 KB

english, 2011

19

Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease)

Richard G. Weleber, Nisha Gupta, Karmen M. Trzupek, Meredith S. Wepner, Daryl E. Kurz, Ann H. Milam

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 1.91 MB

english, 2004

20

Effect of Light Wavelength on the Suppression of Nocturnal Plasma Melatonin in Normal Volunteers

G. C. BRAINARD, A. J. LEWY, M. MENAKER, R. H. FREDRICKSON, L. S. MILLER, R. G. WELEBER, V. CASSONE, D. HUDSON

Journal:

Annals of the New York Academy of Sciences

Year:

1985

Language:

english

File:

PDF, 135 KB

english, 1985

21

Microcephaly with chorioretinal degeneration

Atchaneeyasakul, La-ongsri, Linck, Leesa, Weleber, Richard G.

Journal:

Ophthalmic Genetics

Year:

1998

Language:

english

File:

PDF, 255 KB

english, 1998

22

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

Braun, T. A., Mullins, R. F., Wagner, A. H., Andorf, J. L., Johnston, R. M., Bakall, B. B., Deluca, A. P., Fishman, G. A., Lam, B. L., Weleber, R. G., Cideciyan, A. V., Jacobson, S. G., Sheffield, V.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 744 KB

english, 2013

23

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

Kimberling, William J, Hildebrand, Michael S, Shearer, A Eliot, Jensen, Maren L, Halder, Jennifer A, Trzupek, Karmen, Cohn, Edward S, Weleber, Richard G, Stone, Edwin M, Smith, Richard J H

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 228 KB

english, 2010

24

Quantification of Ellipsoid Zone Changes in Retinitis Pigmentosa Using en Face Spectral Domain–Optical Coherence Tomography

Hariri, Amir H., Zhang, Hong Yang, Ho, Alexander, Francis, Peter, Weleber, Richard G., Birch, David G., Ferris, Frederick L., Sadda, SriniVas R.

Journal:

JAMA Ophthalmology

Year:

2016

Language:

english

File:

PDF, 538 KB

english, 2016

25

Ocular Clinicopathologic Study of Gyrate Atrophy

Wilson, David J., Weleber, Richard G., Green, W. Richard

Journal:

American Journal of Ophthalmology

Year:

1991

Language:

english

File:

PDF, 1.23 MB

english, 1991

26

The Importance of Chromosomal Studies in Ophthalmology

WELEBER, RICHARD G., MAGENIS, R ELLEN

Journal:

International Ophthalmology Clinics

Year:

1984

File:

PDF, 937 KB

1984

27

Effect of Methazolamide on Chronic Macular Edema in Patients with Retinitis Pigmentosa

Fishman, G. A., Gilbert, L. D., Anderson, R. J., Marmor, M. F., Weleber, R. G., Viana, M. A.

Journal:

Year:

1995

File:

PDF, 202 KB

1995

28

The Phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from Mutation of RPE65 and Differentiation from Leber Congenital Amaurosis

Weleber, Richard G., Michaelides, Michel, Trzupek, Karmen M., Stover, Niamh B., Stone, Edwin M.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2011

Language:

english

File:

PDF, 2.52 MB

english, 2011

29

Autoantibodies against retinal proteins in paraneoplastic and autoimmune retinopathy

Grazyna Adamus, Gaoying Ren, Richard G Weleber

Journal:

BMC Ophthalmology

Year:

2004

Language:

english

File:

PDF, 922 KB

english, 2004

30

Normal α-l-Fucosidase and Other Lysosomal Enzyme Activities in Progressive Cone Dystrophy: Reply

STOUMBOS, VASILIKI D., WELEBER, RICHARD G., KENNAWAY, NANCY G.

Journal:

American Journal of Ophthalmology

Year:

1988

Language:

english

File:

PDF, 367 KB

english, 1988

31

The LOC387715 Gene, Smoking, Body Mass Index, Environmental Associations with Advanced Age-Related Macular Degeneration

Francis, Peter J., George, Sarah, Schultz, Dennis W., Rosner, Bernard, Hamon, Sara, Ott, Jurg, Weleber, Richard G., Klein, Michael L., Seddon, Johanna M.

Journal:

Year:

2007

Language:

english

File:

PDF, 127 KB

english, 2007

32

Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14

Albert O Edwards, Anita Miedziak, Tamara Vrabec, Janneke Verhoeven, Ted S Acott, Richard G Weleber, Larry A Donoso

Journal:

American Journal of Ophthalmology

Year:

1999

Language:

english

File:

PDF, 904 KB

english, 1999

33

Evidence for Genetic Heterogeneity in X-Linked Congenital Stationary Night Blindness

Kym M. Boycott, William G. Pearce, Maria A. Musarella, Richard G. Weleber, Tracy A. Maybaum, David G. Birch, Yozo Miyake, Rockefeller S.L. Young, N. Torben Bech-Hansen

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 407 KB

english, 1998

34

Serum IgM in retinitis pigmentosa: A genetic study

Roberta Spiro, Richard Weleber, William Kimberling

Journal:

Clinical Genetics

Year:

1978

Language:

english

File:

PDF, 601 KB

english, 1978

35

Normal α-L-Fucosidase and Other Lysosomal Enzyme Activities in Progressive Cone Dystrophy

Stoumbos, Vasiliki D., Weleber, Richard G., Kennaway, Nancy G.

Journal:

American Journal of Ophthalmology

Year:

1988

Language:

english

File:

PDF, 643 KB

english, 1988

36

Aicardi's Syndrome

Weleber, Richard G.

Journal:

Archives of Ophthalmology

Year:

1978

Language:

english

File:

PDF, 10.64 MB

english, 1978

37

SCLERAL PITS IN CHOROIDEREMIA

Al-Qahtani, Abdullah A., Ba-Ali, Shakoor, Alabduljalil, Talal, Coyner, Aaron S., Patel, Rachel C., Weleber, Richard G., Girach, Aniz, Christensen, Søren K., Larsen, Michael, Pennesi, Mark E., Yang, Pa

Journal:

Year:

2017

Language:

english

File:

PDF, 432 KB

english, 2017

38

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy

Shurygina, Maria F., Simonett, Joseph M., Parker, Maria A., Mitchell, Amanda, Grigorian, Florin, Lifton, Jacob, Nagiel, Aaron, Shpak, Alexander A., Dadali, Elena L., Mishina, Irina A., Weleber, Richar

Journal:

Investigative Opthalmology & Visual Science

Year:

2020

File:

PDF, 8.12 MB

2020

39

Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis

Dr. R. E. Magenis, R. R. Sheehy, M. G. Brown, H. E. McDermid, B. N. White, J. Zonana, R. Weleber, John M. Optiz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 714 KB

english, 1988

40

Computerized Quantitative Analysis of Kinetic Visual Fields

Weleber, Richard G., Tobler, Waldo R.

Journal:

American Journal of Ophthalmology

Year:

1986

Language:

english

File:

PDF, 629 KB

english, 1986

41

The Cuban Experience

Weleber, Richard G.

Journal:

Archives of Ophthalmology

Year:

1996

Language:

english

File:

PDF, 274 KB

english, 1996

42

Automated detection of preserved photoreceptor on optical coherence tomography in choroideremia based on machine learning

Wang, Zhuo, Camino, Acner, Hagag, Ahmed M., Wang, Jie, Weleber, Richard G., Yang, Paul, Pennesi, Mark E., Huang, David, Li, Dengwang, Jia, Yali

Journal:

Journal of Biophotonics

Year:

2018

Language:

english

File:

PDF, 1.93 MB

english, 2018

43

International Federation of Clinical Neurophysiology: Recommendations for visual system testing

Graham E. Holder, Gastone G. Celesia, Yozo Miyake, Shozo Tobimatsu, Richard G. Weleber

Journal:

Clinical Neurophysiology

Year:

2010

Language:

english

File:

PDF, 1.07 MB

english, 2010

44

Iris Hamartomas (Lisch Nodules) in a Case of Segmental Neurofibromatosis

Weleber, Richard G., Zonana, Jonathan

Journal:

American Journal of Ophthalmology

Year:

1983

Language:

english

File:

PDF, 726 KB

english, 1983

45

Molecular genetics of human blue cone monochromacy

Nathans, J, Davenport, C., Maumenee, I., Lewis, R., Hejtmancik, J., Litt, M, Lovrien, E, Weleber, R, Bachynski, B, Zwas, F, et, al.

Journal:

Year:

1989

Language:

english

File:

PDF, 2.37 MB

english, 1989

46

Acute zonal occult outer retinopathy (AZOOR) and pars planitis: a new association?

Sharma, S M, Watzke, R C, Weleber, R G, Smith, J R, Francis, P J

Journal:

British Journal of Ophthalmology

Year:

2008

Language:

english

File:

PDF, 863 KB

english, 2008

47

Comparison of nonparametric methods for static visual field interpolation

Smith, Travis B., Smith, Ning, Weleber, Richard G.

Journal:

Medical and Biological Engineering and Computing

Year:

2017

Language:

english

File:

PDF, 2.67 MB

english, 2017

48

Results at 5 Years after Gene Therapy for RPE65-deficient Retinal Dystrophy

Pennesi, Mark E, Weleber, Richard G, Yang, Paul, Whitebirch, Chris, Thean, Beverly, Flotte, Terence R, Humphries, Margaret, Chegarnov, Elvira, Beasley, Kathleen N, Stout, JT Timothy, Chulay, Jeffrey D

Journal:

Human Gene Therapy

Year:

2018

Language:

english

File:

PDF, 806 KB

english, 2018

49

A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy

Yukihiko Mashima, Richard G. Weleber, Nancy G. Kennaway, George Inana

Journal:

Year:

1992

Language:

english

File:

PDF, 307 KB

english, 1992

50

Isoflurane is an effective alternative to ketamine/xylazine/acepromazine as an anesthetic agent for the mouse electroretinogram

William R. Woodward, Dongseok Choi, Jared Grose, Bojan Malmin, Sawan Hurst, Jiaqing Pang, Richard G. Weleber, De-Ann M. Pillers

Journal:

Documenta Ophthalmologica

Year:

2007

Language:

english

File:

PDF, 549 KB

english, 2007

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