Muriel Kaiser: search on Z-Library

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1

Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency

Marjan Huizing, Yair Anikster, Diana L. Fitzpatrick, Anna B. Jeong, Maria D’Souza, Melanie Rausche, Jorge R. Toro, Muriel I. Kaiser-Kupfer, James G. White, William A. Gahl

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 1.70 MB

english, 2001

2

Gyrate Atrophy of the Choroid and Retina

Kaiser-Kupfer, Muriel I., Ludwig, Irene H., de Monasterio, Francisco M., Valle, David, Krieger, Ingeborg

Journal:

Year:

1985

Language:

english

File:

PDF, 1.71 MB

english, 1985

3

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:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 1.25 MB

english, 1986

4

Niikawa-Kuroki (Kabuki make-up) syndrome

John J. Mulvihill, Muriel I. Kaiser-Kupfer

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 108 KB

english, 1989

5

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

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

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 1.37 MB

english, 1994

6

Eyelid myxoma in Carney complex without PRKAR1A allelic loss

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

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 230 KB

english, 2004

7

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

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

Journal:

Arthritis & Rheumatism

Year:

1981

Language:

english

File:

PDF, 288 KB

english, 1981

8

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:

Year:

2002

Language:

english

File:

PDF, 1.81 MB

english, 2002

9

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)

Year:

2002

Language:

english

File:

PDF, 132 KB

english, 2002

10

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

Year:

2002

Language:

english

File:

PDF, 540 KB

english, 2002

11

Complications of nephropathic cystinosis after renal failure

William A. Gahl, Muriel I. Kaiser-Kupfer

Journal:

Pediatric Nephrology

Year:

1987

Language:

english

File:

PDF, 1.14 MB

english, 1987

12

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population

Xiao Mei Ouyang, Denise Yan, Li Lin Du, J. Fielding. Hejtmancik, Samuel G. Jacobson, Walter E. Nance, An Ren Li, Simon Angeli, Muriel Kaiser, Valerie Newton, Steve D. M. Brown, Thomas Balkany, Xue Zho

Journal:

Year:

2005

Language:

english

File:

PDF, 233 KB

english, 2005

13

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:

Year:

2000

Language:

english

File:

PDF, 159 KB

english, 2000

14

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:

Year:

1996

Language:

english

File:

PDF, 665 KB

english, 1996

15

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:

Year:

2004

Language:

english

File:

PDF, 7.89 MB

english, 2004

16

Usefulness of quantitative polymerase chain reaction in amniotic fluid as early prognostic marker of fetal infection with Toxoplasma gondii

Stéphane Romand, Muriel Chosson, Jacqueline Franck, Martine Wallon, François Kieffer, Karine Kaiser, Henri Dumon, François Peyron, Philippe Thulliez, Stéphane Picot

Journal:

American Journal of Obstetrics and Gynecology

Year:

2004

Language:

english

File:

PDF, 156 KB

english, 2004

17

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:

Molecular Genetics and Metabolism

Year:

1998

Language:

english

File:

PDF, 2.23 MB

english, 1998

18

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:

Molecular Genetics and Metabolism

Year:

1998

Language:

english

File:

PDF, 1.14 MB

english, 1998

19

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

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

Journal:

Molecular Genetics and Metabolism

Year:

1998

Language:

english

File:

PDF, 263 KB

english, 1998

20

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

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

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 1.90 MB

english, 2000

21

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

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

Journal:

Journal of Cataract & Refractive Surgery

Year:

2004

Language:

english

File:

PDF, 102 KB

english, 2004

22

Idiopathic intracranial hypertension in cystinosis

Cigdem F. Dogulu, Ekaterini Tsilou, Benjamin Rubin, Edmond J. FitzGibbon, Muriel I Kaiser-Kupper, Owen M. Rennert, William A. Gahl

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 125 KB

english, 2004

23

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:

Year:

2005

Language:

english

File:

PDF, 151 KB

english, 2005

24

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:

Year:

2004

Language:

english

File:

PDF, 268 KB

english, 2004

25

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:

Year:

2006

Language:

english

File:

PDF, 1.36 MB

english, 2006

26

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:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 263 KB

english, 2000

27

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:

American Journal of Ophthalmology

Year:

2002

Language:

english

File:

PDF, 128 KB

english, 2002

28

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

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

Journal:

Human Pathology

Year:

1996

Language:

english

File:

PDF, 2.36 MB

english, 1996

29

Menkes’ syndrome: Ophthalmic findings

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

Journal:

Year:

2002

Language:

english

File:

PDF, 89 KB

english, 2002

30

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

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

Journal:

Year:

2000

Language:

english

File:

PDF, 472 KB

english, 2000

31

Menkes disease

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

Journal:

Year:

1999

Language:

english

File:

PDF, 120 KB

english, 1999

32

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

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

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 5.71 MB

english, 1997

33

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

Year:

1981

Language:

english

File:

PDF, 741 KB

english, 1981

34

Authors' reply

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

Journal:

Year:

1994

Language:

english

File:

PDF, 185 KB

english, 1994

35

Clinical, biochemical, and therapeutic aspects of gyrate atrophy

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

Journal:

Progress in Retinal Research

Year:

1987

Language:

english

File:

PDF, 6.86 MB

english, 1987

36

Experimental Model of Gyrate Atrophy in Animals

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

Journal:

Year:

1981

Language:

english

File:

PDF, 1.92 MB

english, 1981

37

The Contralateral Eye in the Iridocorneal Endothelial (ICE) Syndrome

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

Journal:

Year:

1983

Language:

english

File:

PDF, 9.91 MB

english, 1983

38

Autosomal Dominant Congenital Cataract

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

Journal:

Year:

1994

Language:

english

File:

PDF, 4.24 MB

english, 1994

39

Systemic Manifestations of Gyrate Atrophy of the Choroid and Retina

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

Journal:

Year:

1981

Language:

english

File:

PDF, 1.52 MB

english, 1981

40

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

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

Journal:

Year:

1981

Language:

english

File:

PDF, 369 KB

english, 1981

41

Editorial Board

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

Journal:

Hematology/Oncology Clinics of North America

Year:

1998

Language:

english

File:

PDF, 138 KB

english, 1998

42

Gyrate Atrophy Symposium

Kaiser-Kupfer, Muriel I.

Journal:

Year:

1981

Language:

english

File:

PDF, 108 KB

english, 1981

43

Gyrate Atrophy of the Choroid and Retina

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

Journal:

Year:

1981

Language:

english

File:

PDF, 657 KB

english, 1981

44

Electroretinographic Findings in the Mucopolysaccharidoses

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

Journal:

Year:

1986

Language:

english

File:

PDF, 566 KB

english, 1986

45

Ophthalmologic Examinadon in the Diagnosis of Proteus Syndrome

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

Journal:

Year:

1993

Language:

english

File:

PDF, 4.67 MB

english, 1993

46

1. Tamoxifen Retinopathy

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

Journal:

Year:

1981

Language:

english

File:

PDF, 2.40 MB

english, 1981

47

Keratopathy of Multiple Myeloma Masquerading as Corneal Crystals of Ocular Cystinosis

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

Journal:

Mayo Clinic Proceedings

Year:

2004

Language:

english

File:

PDF, 76 KB

english, 2004

48

Evoked Potential Analysis of Visual Pathways in Human Albinism

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

Journal:

Year:

1994

Language:

english

File:

PDF, 618 KB

english, 1994

49

Evaluation of Visual Function Following Neodymium:YAG Laser Posterior Capsulotomy

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

Journal:

Year:

1997

Language:

english

File:

PDF, 736 KB

english, 1997

50

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

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

Journal:

Proceedings of the National Academy of Sciences

Year:

1977

Language:

english

File:

PDF, 622 KB

english, 1977