Muriel Kaiser-Kupfer : rechercher sur Z-Library

Année:

1985

Langue:

english

Fichier:

PDF, 1.71 MB

english, 1985

SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma

Dr., PhD Dilys M. Parry, John J. Mulvihill, Shien Tsai, Muriel I. Kaiser-Kupfer, Janet M. Cowan, John M. Opitz, James F. Reynolds

Journal:

John J. Mulvihill, Muriel I. Kaiser-Kupfer

Année:

1986

Langue:

english

Fichier:

PDF, 1.25 MB

english, 1986

Niikawa-Kuroki (Kabuki make-up) syndrome

Journal:

Dr. Dilys M. Parry, Roswell Eldridge, Muriel I. Kaiser-Kupfer, Evrydiki A. Bouzas, Anita Pikus, Nicholas Patronas

Année:

1989

Langue:

english

Fichier:

PDF, 108 KB

english, 1989

Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity

Journal:

Ekaterini T. Tsilou, Chi-Chao Chan, Fabiano Sandrini, Benjamin I. Rubin, De Fen Shen, J. Aidan Carney, Muriel Kaiser-Kupfer, Constantine A. Stratakis

Année:

1994

Langue:

english

Fichier:

PDF, 1.37 MB

english, 1994

Eyelid myxoma in Carney complex without PRKAR1A allelic loss

Journal:

Barton F. Haynes, Anita Pikus, Muriel Kaiser-Kupfer, Anthony S. Fauci

Année:

2004

Langue:

english

Fichier:

PDF, 230 KB

english, 2004

Successful treatment of sudden hearing loss in cogan's syndrome with corticosteroids

Journal:

Arthritis & Rheumatism

Année:

1981

Langue:

english

Fichier:

PDF, 288 KB

english, 1981

Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases

Christina R. Hermos, Marjan Huizing, Muriel I. Kaiser-Kupfer, William A. Gahl

Journal:

Human Mutation

Année:

2002

Langue:

english

Fichier:

PDF, 1.81 MB

english, 2002

Usher syndrome clinical types I and II: Could ocular symptoms and signs differentiate between the two types?

Ekaterini T. Tsilou, Benjamin I. Rubin, Rafael C. Caruso, George F. Reed, Anita Pikus, James F. Hejtmancik, Fumino Iwata, Joy B. Redman, Muriel I. Kaiser-Kupfer

Journal:

Acta Ophthalmologica (Blackwell)

Année:

2002

Langue:

english

Fichier:

PDF, 132 KB

english, 2002

Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2

Dr Chi-Chao Chan, Christian A. Koch, Muriel I. Kaiser-Kupfer, Dilys M. Parry, David H. Gutmann, Zhengping Zhuang, Alexander O. Vortmeyer

Journal:

The Journal of Pathology

Année:

2002

Langue:

english

Fichier:

PDF, 540 KB

english, 2002

Complications of nephropathic cystinosis after renal failure

William A. Gahl, Muriel I. Kaiser-Kupfer

Journal:

Pediatric Nephrology

Année:

1987

Langue:

english

Fichier:

PDF, 1.14 MB

english, 1987

A 5-base insertion in the ?C-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract

Zhaoxia Ren, Anren Li, Barker S. Shastry, Tirunilai Padma, Radha Ayyagari, Mark H. Scott, Marshall M. Parks, Muriel I. Kaiser-Kupfer, J. Fielding Hejtmancik

Journal:

Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 159 KB

english, 2000

Characterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis

Deborah Stone, Y. Ning, Xin-Yuan Guan, Muriel Kaiser-Kupfer, Anthony Wynshaw-Boris, L. Biesecker

Journal:

Human Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 665 KB

english, 1996

Cellular, Molecular and Clinical Characterization of Patients with Hermansky–Pudlak Syndrome Type 5

Marjan Huizing, Richard Hess, Heidi Dorward, David A. Claassen, Amanda Helip-Wooley, Robert Kleta, Muriel I. Kaiser-Kupfer, James G. White, William A. Gahl

Journal:

Traffic

Année:

2004

Langue:

english

Fichier:

PDF, 7.89 MB

english, 2004

Identification, Isolation, and Characterization of a 32-kDa Fatty Acid-Binding Protein Missing from Lymphocytes in Humans with Bietti Crystalline Dystrophy (BCD)

June Lee, Xiaodong Jiao, J.Fielding Hejtmancik, Muriel Kaiser-Kupfer, Gerald J. Chader

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 2.23 MB

english, 1998

Three New Mutations in a Gene Causing Hermansky–Pudlak Syndrome: Clinical Correlations

Vorasuk Shotelersuk, Senator Hazelwood, David Larson, Fumino Iwata, Muriel I. Kaiser-Kupfer, Ernest Kuehl, Isa Bernardini, William A. Gahl

Journal:

Fumino Iwata, Ernest M. Kuehl, George F. Reed, Lessie M. McCain, William A. Gahl, Muriel I. Kaiser-Kupfer

Année:

1998

Langue:

english

Fichier:

PDF, 1.14 MB

english, 1998

A Randomized Clinical Trial of Topical Cysteamine Disulfide (Cystamine) versus Free Thiol (Cysteamine) in the Treatment of Corneal Cystine Crystals in Cystinosis

Journal:

William A. Gahl, Ernest M. Kuehl, Fumino Iwata, Anne Lindblad, Muriel I. Kaiser-Kupfer

Année:

1998

Langue:

english

Fichier:

PDF, 263 KB

english, 1998

Corneal Crystals in Nephropathic Cystinosis: Natural History and Treatment with Cysteamine Eyedrops

Journal:

Ekaterini Tsilou, Benjamin I Rubin, Fabian A Abraham, Muriel Kaiser-Kupfer

Année:

2000

Langue:

english

Fichier:

PDF, 1.90 MB

english, 2000

Bilateral late posterior chamber intraocular lens dislocation with the capsular bag in a patient with gyrate atrophy

Journal:

Journal of Cataract & Refractive Surgery

Année:

2004

Langue:

english

Fichier:

PDF, 102 KB

english, 2004

Use of nitisinone in patients with alkaptonuria

Pim Suwannarat, Kevin O'Brien, Monique B. Perry, Nancy Sebring, Isa Bernardini, Muriel I. Kaiser-Kupfer, Benjamin I. Rubin, Ekaterina Tsilou, Lynn H. Gerber, William A. Gahl

Journal:

Metabolism

Année:

2005

Langue:

english

Fichier:

PDF, 151 KB

english, 2005

Milder ocular findings in Hermansky–Pudlak syndrome type 3 compared with Hermansky–Pudlak syndrome type 1

Ekaterini T Tsilou, Benjamin I Rubin, George F Reed, Lessie McCain, Marjan Huizing, James White, Muriel I Kaiser-Kupfer, William Gahl

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 268 KB

english, 2004

Nephropathic Cystinosis: Posterior Segment Manifestations and Effects of Cysteamine Therapy

Ekaterini T. Tsilou, Benjamin I. Rubin, George Reed, Rafael C. Caruso, Fumino Iwata, Joan Balog, William A. Gahl, Muriel I. Kaiser-Kupfer

Journal:

The American Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 1.36 MB

english, 2006

Genetic Linkage of Bietti Crystallin Corneoretinal Dystrophy to Chromosome 4q35

Xiaodong Jiao, Francis L. Munier, Fumino Iwata, Mutsuko Hayakawa, Atsushi Kanai, June Lee, Daniel F. Schorderet, Muh-Shy Chen, Muriel Kaiser-Kupfer, J. Fielding Hejtmancik

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 263 KB

english, 2000

Retinal visualization in an eye with corneal crystals using indocyanine green videoangiography

Ekaterini Tsilou, Karl Csaky, Benjamin I Rubin, William Gahl, Muriel Kaiser-Kupfer

Journal:

Susan Gentleman, Muriel I Kaiser-Kupfer, Richard J Sherins, Rafael Caruso, W.Gerald Robison Jr, Rhea A Lloyd-Muhammad, Mary A Crawford, Anita Pikus, Gerald J Chader

Année:

2002

Langue:

english

Fichier:

PDF, 128 KB

english, 2002

Ultrastructural and biochemical analysis of sperm flagella from an infertile man with a rod-dominant retinal degeneration

Journal:

Human Pathology

Année:

1996

Langue:

english

Fichier:

PDF, 2.36 MB

english, 1996

Menkes’ syndrome: Ophthalmic findings

Alice T Gasch, Rafael C Caruso, Stephen G Kaler, Muriel Kaiser-Kupfer

Journal:

Fumino Iwata, George F Reed, Rafael C Caruso, Ernest M Kuehl, William A Gahl, Muriel I Kaiser-Kupfer

Année:

2002

Langue:

english

Fichier:

PDF, 89 KB

english, 2002

Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism

Journal:

Alice T Gasch, Stephen G Kaler, Muriel Kaiser-Kupfer

Année:

2000

Langue:

english

Fichier:

PDF, 472 KB

english, 2000

Menkes disease

Journal:

Senator Hazelwood, Vorasuk Shotelersuk, Scott C. Wildenberg, David Chen, Fumino Iwata, Muriel I. Kaiser-Kupfer, James G. White, Richard A. King, William A. Gahl

Année:

1999

Langue:

english

Fichier:

PDF, 120 KB

english, 1999

Evidence for Locus Heterogeneity in Puerto Ricans with Hermansky-Pudlak Syndrome

Journal:

The American Journal of Human Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 5.71 MB

english, 1997

Studies using human lenses from a family displaying hereditary congenital cataracts

Paul Russell, Shigekazu Uga, J. Samuel Zigler Jr, Muriel Kaiser-Kupfer, Toichiro Kuwabara

Journal:

Vision Research

Année:

1981

Langue:

english

Fichier:

PDF, 741 KB

english, 1981

Authors' reply

Bouzas, Evrydiki, Caruso, Rafael C., Drews-Bankiewicz, Malina A., Kaiser-Kupfer, Muriel I.

Journal:

Kaiser-Kupfer, Muriel I., Valle, David L.

Année:

1994

Langue:

english

Fichier:

PDF, 185 KB

english, 1994

Clinical, biochemical, and therapeutic aspects of gyrate atrophy

Journal:

Progress in Retinal Research

Année:

1987

Langue:

english

Fichier:

PDF, 6.86 MB

english, 1987

Experimental Model of Gyrate Atrophy in Animals

Kuwabara, Toichiro, Ishikawa, Yujiro, Kaiser-Kupfer, Muriel I.

Journal:

Kupfer, Carl, Kaiser-Kupfer, Muriel I., Datiles, Manuel, McCain, Lessie

Année:

1981

Langue:

english

Fichier:

PDF, 1.92 MB

english, 1981

The Contralateral Eye in the Iridocorneal Endothelial (ICE) Syndrome

Journal:

Scott, Mark H., Hejtmancik, J. Fielding, Wozencraft, Laura A., Reuter, Leanne M., Parks, Marshall M., Kaiser-Kupfer, Muriel I.

Année:

1983

Langue:

english

Fichier:

PDF, 9.91 MB

english, 1983

Autosomal Dominant Congenital Cataract

Journal:

Kaiser-Kupfer, Muriel I., Kuwabara, Toichiro, Askanas, Valerie, Brody, Leslie, Takki, Kirsti, Dvoretzky, Israel, Engel, W. King

Année:

1994

Langue:

english

Fichier:

PDF, 4.24 MB

english, 1994

Systemic Manifestations of Gyrate Atrophy of the Choroid and Retina

Journal:

Kaiser-Kupfer, Muriel I., de Monasterio, Francisco, Valle, David, Walser, MacKenzie, Brusilow, Saul

Année:

1981

Langue:

english

Fichier:

PDF, 1.52 MB

english, 1981

Visual Results of a Long-Term Trial of a Low-Arginine Diet in Gyrate Atrophy of Choroid and Retina

Journal:

Kaiser-Kupfer, Muriel I., de Monasterio, Francisco, Valle, David, Walser, MacKenzie, Brusilow, Saul

Année:

1981

Langue:

english

Fichier:

PDF, 369 KB

english, 1981

Editorial Board

Journal:

Hematology/Oncology Clinics of North America

Année:

1998

Langue:

english

Fichier:

PDF, 138 KB

english, 1998

Gyrate Atrophy Symposium

Kaiser-Kupfer, Muriel I.

Journal:

Valle, David, Walser, Mackenzie, Brusilow, Saul, Kaiser-Kupfer, Muriel I., Takki, Kirsti

Année:

1981

Langue:

english

Fichier:

PDF, 108 KB

english, 1981

Gyrate Atrophy of the Choroid and Retina

Journal:

Caruso, Rafael C., Kaiser-Kupfer, Muriel I., Muenzer, Joseph, Ludwig, Irene H., Zasloff, Michael A., Mercer, Patricia A.

Année:

1981

Langue:

english

Fichier:

PDF, 657 KB

english, 1981

Electroretinographic Findings in the Mucopolysaccharidoses

Journal:

Bouzas, Evrydiki A., Krasnewich, Donna, Koutroumanidis, Michael, Papadimitriou, Alexandros, Marini, Joan C., Kaiser-Kupfer, Muriel I.

Année:

1986

Langue:

english

Fichier:

PDF, 566 KB

english, 1986

Ophthalmologic Examinadon in the Diagnosis of Proteus Syndrome

Journal:

Kaiser-Kupfer, Muriel I., Kupfer, Carl, Rodrigues, Merlyn M.

Année:

1993

Langue:

english

Fichier:

PDF, 4.67 MB

english, 1993

1. Tamoxifen Retinopathy

Journal:

Kleta, Robert, Blair, Scott C., Bernardini, Isa, Kaiser-Kupfer, Muriel I., Gahl, William A.

Année:

1981

Langue:

english

Fichier:

PDF, 2.40 MB

english, 1981

Keratopathy of Multiple Myeloma Masquerading as Corneal Crystals of Ocular Cystinosis

Journal:

Mayo Clinic Proceedings

Année:

2004

Langue:

english

Fichier:

PDF, 76 KB

english, 2004

Evoked Potential Analysis of Visual Pathways in Human Albinism

Bouzas, Evrydiki A., Caruso, Rafael C., Drews-Bankiewicz, Malina A., Kaiser-Kupfer, Muriel I.

Journal:

Magno, Benjamin V., Datiles, Manuel B., Lasa, Maria Susan M., Fajardo, Moises Romeo Q., Caruso, Rafael C., Kaiser-Kupfer, Muriel I.

Année:

1994

Langue:

english

Fichier:

PDF, 618 KB

english, 1994

Evaluation of Visual Function Following Neodymium:YAG Laser Posterior Capsulotomy

Journal:

David Valle, Muriel I. Kaiser-Kupfer and Luis A. Del Valle

Année:

1997

Langue:

english

Fichier:

PDF, 736 KB

english, 1997

Gyrate Atrophy of the Choroid and Retina: Deficiency of Ornithine Aminotransferase in Transformed Lymphocytes

Journal:

Proceedings of the National Academy of Sciences

Année:

1977

Langue:

english

Fichier:

PDF, 622 KB

english, 1977

Association of Thyroid Disease With Retinitis Pigmentosa and Gyrate Atrophy

Whitcup, Scott M., Iwata, Furaino, Podgor, Marvin J., Valle, David, Sran, Puspha K., Kaiser-Kupfer, Muriel I.

Journal:

Kaiser-Kupfer, Muriel I., Valle, David, Del Valle, Luis A.

Année:

1996

Langue:

english

Fichier:

PDF, 1.46 MB

english, 1996

A Specific Enzyme Defect in Gyrate Atrophy

Journal:

Kaiser-Kupfer, Muriel, Kuwabara, Toichiro, Kupfer, Carl

Année:

1978

Langue:

english

Fichier:

PDF, 1.44 MB

english, 1978

Progressive Bilateral Essential Iris Atrophy

Journal: