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51

Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older

Sandeep Grover, Gerald A Fishman, Robert J Anderson, Marcia S.V Tozatti, John R Heckenlively, Richard G Weleber, Albert O Edwards, Jeremiah Brown Jr

Journal:

Year:

1999

Language:

english

File:

PDF, 209 KB

english, 1999

52

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

53

Autosomal-Dominant Congenital Cataract Associated with a Deletion Mutation in the Human Beaded Filament Protein Gene BFSP2

Petra M. Jakobs, John F. Hess, Paul G. FitzGerald, Patricia Kramer, Richard G. Weleber, Michael Litt

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 217 KB

english, 2000

54

Age-Related Macular Degeneration—a Genome Scan in Extended Families

Jacek Majewski, Dennis W. Schultz, Richard G. Weleber, Mitchell B. Schain, Albert O. Edwards, Tara C. Matise, Ted S. Acott, Jurg Ott, Michael L. Klein

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 641 KB

english, 2003

55

Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2

Anren Li, Xiaodong Jiao, Francis L. Munier, Daniel F. Schorderet, Wenliang Yao, Fumino Iwata, Mutsuko Hayakawa, Atsushi Kanai, Muh Shy Chen, Richard Alan Lewis, John Heckenlively, Richard G. Weleber,

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.93 MB

english, 2004

56

The Hajdu-Cheney syndrome: Report of two cases and review of the literature

Richard G. Weleber, Rodney K. Beals

Journal:

The Journal of Pediatrics

Year:

1976

Language:

english

File:

PDF, 7.00 MB

english, 1976

57

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

58

Specific reading disability: Identification of an inherited form through linkage analysis: by S. Smith, W. Kimberling, B. Pennington and H. Lubs. Science 219: 1345–1347, 1983

Richard Weleber

Journal:

Survey of Ophthalmology

Year:

1983

Language:

english

File:

PDF, 118 KB

english, 1983

59

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

60

Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: Studies in four children

Sarojini S. Budden, Nancy G. Kennaway, Neil R.M. Buist, A. Poulos, Richard G. Weleber

Journal:

The Journal of Pediatrics

Year:

1986

Language:

english

File:

PDF, 2.97 MB

english, 1986

61

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

62

Recommendations for Genetic Testing of Inherited Eye Diseases

Stone, Edwin M., Aldave, Anthony J., Drack, Arlene V., MacCumber, Mathew W., Sheffield, Val C., Traboulsi, Elias, Weleber, Richard G.

Journal:

Year:

2012

Language:

english

File:

PDF, 135 KB

english, 2012

63

Clinical Trial of Vitamin B6 for Gyrate Atrophy of the Choroid and Retina

Weleber, Richard G., Kennaway, Nancy G.

Journal:

Year:

1981

Language:

english

File:

PDF, 800 KB

english, 1981

64

CHROMOSOME ANOMALIES

Hecht, Frederick, Weleber, RichardG., Giblett, EloiseR.

Journal:

Year:

1967

Language:

english

File:

PDF, 171 KB

english, 1967

65

New York City Ballet performs during annual meeting

Hecht, Frederick, Weleber, RichardG., Giblett, EloiseR.

Journal:

Journal of the American Academy of Dermatology

Year:

1980

Language:

english

File:

PDF, 293 KB

english, 1980

66

HOSPITAL FESTIVITIES.

Hecht, Frederick, Weleber, RichardG., Giblett, EloiseR.

Journal:

Year:

1884

Language:

english

File:

PDF, 385 KB

english, 1884

67

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

Fishman, Gerald A., Gilbert, Leonardo D., Anderson, Robert J., Marmor, Michael F., Weleber, Richard G., Viana, Marlos A.G.

Journal:

Year:

1994

Language:

english

File:

PDF, 824 KB

english, 1994

68

Author reply

Stone, Edwin M., Aldave, Anthony J., Drack, Arlene V., MacCumber, Mathew W., Sheffield, Val C., Traboulsi, Elias, Weleber, Richard G.

Journal:

Year:

2013

Language:

english

File:

PDF, 39 KB

english, 2013

69

Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3

Musarella, M.A., Weleber, R.G., Murphey, W.H., Young, R.S.L., Anson-Cartwright, L., Mets, M., Kraft, S.P., Polemeno, R., Litt, M., Worton, R.G.

Journal:

Year:

1989

Language:

english

File:

PDF, 999 KB

english, 1989

70

TRISOMY 21 OR 22 IN DOWN'S SYNDROME ?

Hecht, Frederick, Weleber, RichardG.

Journal:

Year:

1967

Language:

english

File:

PDF, 184 KB

english, 1967

71

VITAMIN B6 IN MANAGEMENT OF GYRATE ATROPHY OF CHOROID AND RETINA

Weleber, RichardG., Kennaway, NancyG., Buist, NeilR.M.

Journal:

Year:

1978

Language:

english

File:

PDF, 155 KB

english, 1978

72

Abnormal night vision and altered dark adaptometry in patients treated with isotretinoin for acne

Denman, Susan, Weleber, Richard, Hanifin, Jon M., Cunningham, William, Phipps, Richard

Journal:

Journal of the American Academy of Dermatology

Year:

1986

Language:

english

File:

PDF, 540 KB

english, 1986

73

Infantile and childhood retinal blindness: A molecular perspective (The Franceschetti Lecture)

Weleber, Richard G.

Journal:

Ophthalmic Genetics

Year:

2002

Language:

english

File:

PDF, 518 KB

english, 2002

74

Clinical diagnoses that overlap with choroideremia

Lee, Thomas K.M., McTaggart, Kerry E., Sieving, Paul A., Heckenlively, John R., Levin, Alex V., Greenberg, Jacquie, Weleber, Richard G., Tong, Patrick Y., Anhalt, Edward F., Powell, Berkley R., MacDon

Journal:

Canadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologie

Year:

2003

Language:

english

File:

PDF, 1.77 MB

english, 2003

75

Ophthalmologic and Systemic Manifestations of Alström's Disease

Millay, Robert H., Weleber, Richard G., Heckenlively, John R.

Journal:

American Journal of Ophthalmology

Year:

1986

Language:

english

File:

PDF, 1.26 MB

english, 1986

76

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

77

Diagnostic Clinical Findings of a New Syndrome with Night Blindness, Maculopathy, and Enhanced S Cone Sensitivity

Marmor, Michael F., Jacobson, Samuel G., Foerster, Michael H., Kellner, Ulrich, Weleber, Richard G.

Journal:

American Journal of Ophthalmology

Year:

1990

Language:

english

File:

PDF, 2.62 MB

english, 1990

78

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

79

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

80

Cytogenetic Investigation of Cat-Eye Syndrome

Weleber, Richard G., Walknowska, Janina, Peakman, David

Journal:

American Journal of Ophthalmology

Year:

1977

Language:

english

File:

PDF, 3.39 MB

english, 1977

81

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

82

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

83

Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy

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

Journal:

Ophthalmic Genetics

Year:

1999

Language:

english

File:

PDF, 168 KB

english, 1999

84

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

85

Discrete expression and distribution pattern of TIMP-3 in the human retina and choroid

Vranka, Janice A., Johnson, Elaine, Zhu, Xianghong, Shepardson, Amy, Alexander, J. Preston, Bradley, John M.B., Wirtz, Mary K., Weleber, Richard G., Klein, Michael L., Acott, Ted S.

Journal:

Current Eye Research

Year:

1997

Language:

english

File:

PDF, 259 KB

english, 1997

86

Combined Retinal Hamartomas Leading to the Diagnosis of Neurofibromatosis Type 2

Grant, Elizabeth A., Trzupek, Karmen M., Reiss, Jacob, Crow, Kate, Messiaen, Ludwine, Weleber, Richard G.

Journal:

Ophthalmic Genetics

Year:

2008

Language:

english

File:

PDF, 1.15 MB

english, 2008

87

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

88

Book Review

Weleber, Richard G.

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 43 KB

english, 2004

89

HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD Locus in the Context of Complex Disease: Review and Perspective

Schultz, Dennis W., Weleber, Richard G., Lawrence, Gus, Barral, Sandra, Majewski, Jacek, Acott, Ted S., Klein, Michael L.

Journal:

Ophthalmic Genetics

Year:

2005

Language:

english

File:

PDF, 86 KB

english, 2005

90

Choroideremia: Analysis of the Retina from a Female Symptomatic Carrier

Bonilha, Vera L., Trzupek, Karmen M., Li, Yong, Francis, Peter J., Hollyfield, Joe G., Rayborn, Mary E., Smaoui, Nizar, Weleber, Richard G.

Journal:

Ophthalmic Genetics

Year:

2008

Language:

english

File:

PDF, 910 KB

english, 2008

91

Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss

Francis, P J, Hamon, S C, Ott, J, Weleber, R G, Klein, M L

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 260 KB

english, 2009

92

Residual Electroretinograms in Young Leber Congenital Amaurosis Patients with Mutations of AIPL1

Pennesi, Mark E., Stover, Niamh B., Stone, Edwin M., Chiang, Pei-Wen, Weleber, Richard G.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2011

Language:

english

File:

PDF, 2.45 MB

english, 2011

93

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

94

Effect of Glucagon on Incorporation of Glycine-C 14 Into Protein of Voluntary Skeletal Muscle1

BEATTY, C.H., PETERSON, R.D., BOCEK, R.M., CRAIG, N.C., WELEBER, R.

Journal:

Year:

1963

Language:

english

File:

PDF, 538 KB

english, 1963

95

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

Weleber, Richard G.

Journal:

Archives of Ophthalmology

Year:

1993

Language:

english

File:

PDF, 28.06 MB

english, 1993

96

Aicardi's Syndrome

Weleber, Richard G.

Journal:

Archives of Ophthalmology

Year:

1978

Language:

english

File:

PDF, 10.64 MB

english, 1978

97

X-linked Retinitis Pigmentosa Associated With a 2-Base Pair Insertion in Codon 99 of the RP3 Gene RPGR

Weleber, Richard G.

Journal:

Archives of Ophthalmology

Year:

1997

Language:

english

File:

PDF, 10.04 MB

english, 1997

98

Chronic Severe Periorbital Edema

Weleber, Richard

Journal:

JAMA The Journal of the American Medical Association

Year:

1976

Language:

english

File:

PDF, 189 KB

english, 1976

99

Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation

Yang, Paul, Chiang, Pei-Wen, Weleber, Richard G., Pennesi, Mark E.

Journal:

JAMA Ophthalmology

Year:

2015

Language:

english

File:

PDF, 707 KB

english, 2015

100

Variability in Isopter Position and Fatigue during Semi-Automated Kinetic Perimetry

Nowomiejska, Katarzyna, Brzozowska, Agnieszka, Zarnowski, Tomasz, Rejdak, Robert, Weleber, Richard G., Schiefer, Ulrich

Journal:

Ophthalmologica

Year:

2012

Language:

english

File:

PDF, 379 KB

english, 2012

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