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

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

3

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

4

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

5

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

6

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

7

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

8

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

9

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

10

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

11

Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome

Atchaneeyasakul, La-Ongsri, Linck, Leesa M., Connor, William E., Weleber, Richard G., Steiner, Robert D.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 84 KB

english, 1998

12

Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)

Richard A. Spritz, Seung-Taek Lee, Kazuyoshi Fukai, Karen Brondum-Nielsen, David Chitayat, Mark H. Lipson, Maria A. Musarella, Ada Rosenmann, Richard G. Weleber

Journal:

Year:

1997

Language:

english

File:

PDF, 113 KB

english, 1997

13

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change

Kelaginamane T. Hiriyanna, Eve L. Bingham, Beverly M. Yashar, Radha Ayyagari, Gerald Fishman, Kent W. Small, David V. Weinberg, Richard G. Weleber, Richard A. Lewis, Sten Andreasson, Julia E. Richards

Journal:

Year:

1999

Language:

english

File:

PDF, 190 KB

english, 1999

14

Ruvalcaba-myhre-Smith syndrome: A case with probable autosomal-dominant inheritance and additional manifestations

Dr. John H. Diliberti, Richard G. Weleber, Sarojini Budden, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 332 KB

english, 1983

15

Tandem duplication of proximal 22q: A cause of cat-eye syndrome

Jacob A. Reiss, Richard G. Weleber, Michael G. Brown, Charles D. Bangs, Everett W. Lovrien, Dr. R. Ellen Magenis, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 472 KB

english, 1985

16

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

17

Microcephaly with chorioretinopathy in a brother–sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype

Karmen M. Trzupek, Rena E. Falk, Joseph L. Demer, Richard G. Weleber

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 218 KB

english, 2007

18

Conorenal dysplasia: A syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur

Rodney K. Beals, Richard G. Weleber

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 113 KB

english, 2007

19

Predicting the pathogenicity of RPE65 mutations

A.R. Philp, M. Jin, S. Li, E.I. Schindler, A. Iannaccone, B.L. Lam, R.G. Weleber, G.A. Fishman, S.G. Jacobson, R.F. Mullins, Gabriel H. Travis, Edwin M. Stone

Journal:

Year:

2009

Language:

english

File:

PDF, 185 KB

english, 2009

20

Joubert syndrome surviving to adulthood associated with a progressive movement disorder

Steven A. Gunzler, A. Jon Stoessl, Robert A. Egan, Richard G. Weleber, Paul Wang, John G. Nutt

Journal:

Movement Disorders

Year:

2007

Language:

english

File:

PDF, 123 KB

english, 2007

21

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

22

Gyrate atrophy of the choroid and retina

Richard G. Weleber, Nancy G. Kennaway, Neil R. M. Buist

Journal:

International Ophthalmology

Year:

1981

Language:

english

File:

PDF, 1.93 MB

english, 1981

23

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

24

Heterogeneity and complementation analysis of fibroblasts from vitamin B6responsive and non-responsive patients with gyrate atrophy of the choroid and retina

M. K. Wirtz, N. G. Kennaway, R. G. Weleber

Journal:

Journal of Inherited Metabolic Disease

Year:

1985

Language:

english

File:

PDF, 582 KB

english, 1985

25

Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations

De-Ann M. Pillers, K.M. Fitzgerald, N.M. Duncan, S.M. Rash, R.A. White, S.J. Dwinnell, B.R. Powell, R.E. Schnur, P.N. Ray, G.W. Cibis, R.G. Weleber

Journal:

Year:

1999

Language:

english

File:

PDF, 105 KB

english, 1999

26

A summary of 20CACNA1Fmutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

Kym Boycott, Tracy Maybaum, Margaret Naylor, Richard Weleber, Johane Robitaille, Yozo Miyake, Arthur Bergen, Mary Pierpont, William Pearce, N. Bech-Hansen

Journal:

Year:

2001

Language:

english

File:

PDF, 160 KB

english, 2001

27

Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations

De-Ann M. Pillers, K.M. Fitzgerald, N.M. Duncan, S.M. Rash, R.A. White, S.J. Dwinnell, B.R. Powell, R.E. Schnur, P.N. Ray, G.W. Cibis, R.G. Weleber

Journal:

Year:

1999

Language:

english

File:

PDF, 105 KB

english, 1999

28

B.L. Lam Electrophysiology of Vision, Clinical Testing and Applications Taylor & Francis. London, 2005, $149.95, ISBN 0:8247-4068-8

Richard G. Weleber

Journal:

Documenta Ophthalmologica

Year:

2006

Language:

english

File:

PDF, 64 KB

english, 2006

29

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

30

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

31

An eye for an eye: New models of genetic ocular disease

Evans, Kevin Gregory, Weleber, Richard G.

Journal:

Nature Biotechnology

Year:

1997

File:

PDF, 303 KB

1997

32

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

33

Dystrophin expression in the human retina is required for normal function as defined by electroretinography

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.

Journal:

Nature Genetics

Year:

1993

File:

PDF, 592 KB

1993

34

Vitamin A megatherapy for retinal abnormalities

Acott, Ted S., Weleber, Richard G.

Journal:

Nature Medicine

Year:

1995

File:

PDF, 1.94 MB

1995

35

Molecular biomarkers for autoimmune retinopathies: Significance of anti-transducin-alpha autoantibodies

Grazyna Adamus, Lori Brown, Richard G. Weleber

Journal:

Experimental and Molecular Pathology

Year:

2009

Language:

english

File:

PDF, 2.07 MB

english, 2009

36

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

Hitoshi Sakuma, George Inana, Akira Murakami, Toshihiro Yajima, Richard G. Weleber, William H. Murphey, J.Donald M. Gass, Yoshihiro Hotta, Mutsuko Hayakawa, Keiko Fujiki, Yong Qing Gao, Michael Dancig

Journal:

Year:

1995

File:

PDF, 187 KB

1995

37

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

38

Dose-response relationship between light irradiance and the suppression of plasma melatonin in human volunteers

George C. Brainard, Alfred J. Lewy, Michael Menaker, Richard H. Fredrickson, L. Stephen Miller, Richard G. Weleber, Vincent Cassone, David Hudson

Journal:

Year:

1988

Language:

english

File:

PDF, 648 KB

english, 1988

39

Clinical and Electrophysiologic Characterization of Paraneoplastic and Autoimmune Retinopathies Associated With Antienolase Antibodies

Richard G. Weleber, Robert C. Watzke, William T. Shults, Karmen M. Trzupek, John R. Heckenlively, Robert A. Egan, Grazyna Adamus

Journal:

American Journal of Ophthalmology

Year:

2005

Language:

english

File:

PDF, 1.03 MB

english, 2005

40

Expanded genome scan in extended families with age-related macular degeneration

S. Barral, P.J. Francis, D.W. Schultz, M.B. Schain, C. Haynes, J. Majewski, J. Ott, T. Acott, R.G. Weleber, M.L. Klein

Journal:

American Journal of Ophthalmology

Year:

2007

Language:

english

File:

PDF, 37 KB

english, 2007

41

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

42

Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa

Saloni Walia, Gerald A. Fishman, Samuel G. Jacobson, Tomas S. Aleman, Robert K. Koenekoop, Elias I. Traboulsi, Richard G. Weleber, Mark E. Pennesi, Elise Heon, Arlene Drack, Byron L. Lam, Rando Allikm

Journal:

Year:

2010

Language:

english

File:

PDF, 326 KB

english, 2010

43

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

44

Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes

Roberto Anitori, Kara Manning, Franklin Quan, Richard G. Weleber, Neil R.M. Buist, Eric A. Shoubridge, Nancy G. Kennaway

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 1.40 MB

english, 2005

45

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

46

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

Autumn L. Fletcher, Mark E. Pennesi, Cary O. Harding, Richard G. Weleber, Melanie B. Gillingham

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 750 KB

english, 2012

47

Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23

Kean T Oh, Reid Longmuir, Dawn M Oh, Edwin M Stone, Kelly Kopp, Jeremiah Brown, Gerald A Fishman, Peter Sonkin, Karen M Gehrs, Richard G Weleber

Journal:

American Journal of Ophthalmology

Year:

2003

Language:

english

File:

PDF, 152 KB

english, 2003

48

Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen

Albert O Edwards, Michael L Klein, C.Blair Berselli, J.Fielding Hejtmancik, Kristal Rust, Mary K Wirtz, Richard G Weleber, Ted S Acott

Journal:

American Journal of Ophthalmology

Year:

1998

Language:

english

File:

PDF, 710 KB

english, 1998

49

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

50

Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration

Ann H Milam, Christine A Curcio, Artur V Cideciyan, Samir Saxena, Sinoj K John, Howard S Kruth, Goldis Malek, John R Heckenlively, Richard G Weleber, Samuel G Jacobson

Journal:

Year:

2000

Language:

english

File:

PDF, 2.92 MB

english, 2000

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