Hejtmancik, M. R. : rechercher sur Z-Library

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1

Biology of Inherited Cataracts and Opportunities for Treatment

Shiels, Alan, Hejtmancik, J. Fielding

Journal:

Annual Review of Vision Science

Année:

2019

Langue:

english

Fichier:

PDF, 398 KB

english, 2019

2

白内障の原因を解きほぐすラノステロール

Hejtmancik, J. Fielding

Journal:

Année:

2015

Fichier:

PDF, 1.33 MB

2015

3

Comparing the Curative Effects between Femtosecond Laser-Assisted Cataract Surgery and Conventional Phacoemulsification Surgery: A Meta-Analysis

Chen, Xinyi, Chen, Kailin, He, Jiliang, Yao, Ke, Hejtmancik, James Fielding

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 686 KB

english, 2016

4

Structure, function, and antigenicity of cholera toxin

Daiel E. Markel, Kelly E. Hejtmancik, Johnny W. Peterson, Alexander Kurosky

Journal:

Journal of Cellular Biochemistry

Année:

1979

Langue:

english

Fichier:

PDF, 677 KB

english, 1979

5

Genomic Organization of the Human Myocilin Gene (MYOC) Responsible for Primary Open Angle Glaucoma (GLC1A)

Ryo Kubota, Jun Kudoh, Yukihiko Mashima, Shuichi Asakawa, Shinsei Minoshima, J.Fielding Hejtmancik, Yoshihisa Oguchi, Nobuyoshi Shimizu

Journal:

Biochemical and Biophysical Research Communications

Année:

1998

Langue:

english

Fichier:

PDF, 149 KB

english, 1998

6

exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels

Maranhao, B., Biswas, P., Duncan, J.L., Branham, K.E., Silva, G.A., Naeem, M.A., Khan, S.N., Riazuddin, S., Hejtmancik, J.F., Heckenlively, J.R., Riazuddin, S.A., Lee, P.L., Ayyagari, R.

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2014

7

No prizes please

Behl, Mamta, Elmore, Susan A., Malarkey, David E., Hejtmancik, Milton R., Gerken, Diane K., Chhabra, Rajendra S.

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 684 KB

english, 2006

8

Two-Year Toxicity and Carcinogenicity Study of Methyleugenol in F344/N Rats and B6C3F 1 Mice

Johnson, Jerry D., Ryan, Michael J., Toft, John D., Graves, Steven W., Hejtmancik, Milton R., Cunningham, Michael L., Herbert, Ron, Abdo, Kamal M.

Journal:

Journal of Agricultural and Food Chemistry

Année:

2000

Langue:

english

Fichier:

PDF, 157 KB

english, 2000

9

Hematological Effects in F344 Rats and B6C3F1 Mice during the 13-Week Gavage Toxicity Study of Methylene Blue Trihydrate

Hejtmancik, M. R.

Journal:

Toxicological Sciences

Année:

2002

Langue:

english

Fichier:

PDF, 111 KB

english, 2002

10

Clinical and genetic features in Italian Bietti crystalline dystrophy patients

Rossi, S., Testa, F., Li, A., Yaylacioglu, F., Gesualdo, C., Hejtmancik, J. F., Simonelli, F.

Journal:

British Journal of Ophthalmology

Année:

2013

Langue:

english

Fichier:

PDF, 417 KB

english, 2013

11

Ophthalmology: Cataracts dissolved

Hejtmancik, J. Fielding

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 139 KB

english, 2015

12

Dermal Exposure to Cumene Hydroperoxide: Assessing Its Toxic Relevance and Oxidant Potential

Rider, C. V., Chan, P., Herbert, R. A., Kissling, G. E., Fomby, L. M., Hejtmancik, M. R., Witt, K. L., Waidyanatha, S., Travlos, G. S., Kadiiska, M. B.

Journal:

Toxicologic Pathology

Année:

2016

Langue:

english

Fichier:

PDF, 5.29 MB

english, 2016

13

X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus

Towbin, J. A., Hejtmancik, J. F., Brink, P., Gelb, B., Zhu, X. M., Chamberlain, J. S., McCabe, E. R., Swift, M.

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 3.82 MB

english, 1993

14

Mutations and mechanisms in congenital and age-related cataracts

Shiels, Alan, Hejtmancik, J. Fielding

Journal:

Experimental Eye Research

Année:

2016

Langue:

english

Fichier:

PDF, 494 KB

english, 2016

15

A Pilot Study to Propose a "Harm Scale", a New Method to Predict Risk of Harm to the Corneal Endothelium Caused by Longitudinal Phacoemulsification, and the Subsequent Effect of Endothelial Damage on Post Operative Visual Acuity

Sorrentino, Francesco Saverio, Bonifazzi, Claudio, Parmeggiani, Francesco, Perri, Paolo, Hejtmancik, James Fielding

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2016

16

Understanding the genetic architecture of human retinal degenerations

Hejtmancik, J. Fielding, Daiger, Stephen P.

Journal:

Proceedings of the National Academy of Sciences

Année:

2020

Fichier:

PDF, 502 KB

2020

17

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of Familial Exudative Vitreoretinopathy

Barkur S. Shastry, James F. Hejtmancik, Michael T. Trese

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 173 KB

english, 1997

18

Two cases of severe lethal Smith-Lemli-Opitz syndrome

John W. Belmont, Edith Hawkins, J. Fielding Hejtmancik, Dr. Frank Greenberg, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1987

Langue:

english

Fichier:

PDF, 229 KB

english, 1987

19

Denaturing gradient gel electrophoresis of the α1-antitrypsin gene: Application to prenatal diagnosis

Jacqueline R. Dubel, Raymond Finwick, J. Fielding Hejtmancik

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 616 KB

english, 1991

20

Diagnostic value of ophthalmologic findings in myotonic dystrophy: Comparison with risks calculated by haplotype analysis of closely linked restriction fragment length polymorphisms

M.D. T. Ashizawa, J. F. Hejtmancik, J. Liu, M. B. Perryman, H. F. Epstein, D. D. Koch

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 665 KB

english, 1992

21

Clinical variability and genetic heterogeneity within the Acadian Usher population

Richard J. H. Smith, Mary Z. Pelias, Stephen P. Daiger, Bronya Keats, William Kimberling, J. Fielding Hejtmancik

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 495 KB

english, 1992

22

Clinical diagnosis of the Usher syndromes

R. J. H. Smith, C. I. Berlin, J. F. Hejtmancik, B. J. B. Keats, W. J. Kimberling, R. A. Lewis, C. G. Möller, M. Z. Pelias, L. Tranebjærǵ

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 663 KB

english, 1994

23

Inheritance of open-angle glaucoma in the Barbados family study

Barbara Nemesure, Qimei He, Nancy Mendell, Suh-Yuh Wu, James Fielding Hejtmancik, Anselm Hennis, M. Cristina Leske

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 104 KB

english, 2001

24

DNA adduct formation in mice following dermal application of smoke condensates from cigarettes that burn or heat tobacco

Dr. C. K. Lee, B. C. Brown, E. A. Reed, M. Hejtmancik, A. T. Mosberg, D. J. Doolittle, A. W. Hayes

Journal:

Environmental and Molecular Mutagenesis

Année:

1992

Langue:

english

Fichier:

PDF, 837 KB

english, 1992

25

Results and conclusions of the national toxicology program's rodent carcinogenicity studies with sodium fluoride

John R. Bucher, Milton R. Hejtmancik, John D. Toft II, Ronald L. Persing, Scot L. Eustis, Joseph K. Haseman

Journal:

International Journal of Cancer

Année:

1991

Langue:

english

Fichier:

PDF, 558 KB

english, 1991

26

Toxicity of diethanolamine. 2. Drinking water and topical application exposures in B6C3F1 mice

Ronald L. Melnick, Joel Mahler, John R. Bucher, Milton Hejtmancik, Allen Singer, Ronald L. Persing

Journal:

Journal of Applied Toxicology

Année:

1994

Langue:

english

Fichier:

PDF, 895 KB

english, 1994

27

Toxicity of diethanolamine. 1. Drinking water and topical application exposures in F344 rats

Ronald L. Melnick, Joel Mahler, John R. Bucher, Morrow Thompson, Milton Hejtmancik, Michael J. Ryan, Lawrence E. Mezza

Journal:

Journal of Applied Toxicology

Année:

1994

Langue:

english

Fichier:

PDF, 919 KB

english, 1994

28

Carcinogenesis studies of cresols in rats and mice

J.M. Sanders, J.R. Bucher, J.C. Peckham, G.E. Kissling, M.R. Hejtmancik, R.S. Chhabra

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 212 KB

english, 2009

29

Linkage and candidate gene analysis of autosomal-dominant familial exudative vitreoretinopathy

BS Shastry, JF Hejtmancik, M Hiraoka, N Ibaraki, Y Okubo, A Okubo, DP Han, MT Trese

Journal:

Clinical Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 133 KB

english, 2000

30

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

31

USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele

XM Ouyang, JF Hejtmancik, SG Jacobson, XJ Xia, A Li, LL Du, V Newton, M Kaiser, T Balkany, WE Nance, X-Z Liu

Journal:

Clinical Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 86 KB

english, 2003

32

Mutational spectrum in Usher syndrome type II

XM Ouyang, D Yam, JF Hejtmancik, SG Jacobson, AR Li, LL Du, S Angeli, M Kaiser, T Balkany, XZ Liu

Journal:

Clinical Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 107 KB

english, 2004

33

Association analysis of nine candidate gene polymorphisms in Indian patients with type 2 diabetic retinopathy

Suganthalakshmi Balasubbu, Periasamy Sundaresan, Anand Rajendran, Kim Ramasamy, Gowthaman Govindarajan, Namperumalsamy Perumalsamy, J Fielding Hejtmancik

Journal:

BMC Medical Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 247 KB

english, 2010

34

In vitro amplification of the α1-antitrypsin gene: Application to prenatal diagnosis

J. F. Hejtmancik, J. D. Holcomb, J. Howard, M. Vanderford

Journal:

Prenatal Diagnosis

Année:

1989

Langue:

english

Fichier:

PDF, 557 KB

english, 1989

35

Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD)

B. Müller, C. Dechant, G. Meng, S. Liechti-Gallati, R. A. Doherty, J. F. Hejtmancik, E. Bakker, A. P. Read, M. Jeanpierre, K. H. Fischbeck, G. Romeo, U. Francke, E. Wilichowski, C. R. Greenberg, C. Br

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 226 KB

english, 1992

36

Effects of gamma-aminobutyric acid receptor agonists and antagonist on LHRH-synthesizing neurons as detected by immunocytochemistry and in situ hybridization

H. T. Bergen, J. F. Hejtmancik, D. W. Pfaff

Journal:

Experimental Brain Research

Année:

1991

Langue:

english

Fichier:

PDF, 2.20 MB

english, 1991

37

LHRH messenger RNA in neurons in the intact and castrate male rat forebrain, studied by in situ hybridization

J. M. Rothfeld, J. F. Hejtmancik, P. M. Conn, D. W. Pfaff

Journal:

Experimental Brain Research

Année:

1987

Langue:

english

Fichier:

PDF, 588 KB

english, 1987

38

Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening

David C. Jinks, Mikeanne Minter, Deborah A. Tarver, Mindy Vanderford, J. Fielding Hejtmancik, Edward R. B. McCabe

Journal:

Année:

1989

Langue:

english

Fichier:

PDF, 615 KB

english, 1989

39

Radioimmunoassay of gastrointestinal hormones

Phillip L. Rayford, Kelly Hejtmancik, James C. Thompson

Journal:

World Journal of Surgery

Année:

1979

Langue:

english

Fichier:

PDF, 851 KB

english, 1979

40

Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy

Zhaoxia Ren, Pei-Yu Lin, Gordon K. Klintworth, Fumino Iwata, Francis L. Munier, Daniel F. Schorderet, Leila El Matri, Veena Theendakara, Surendra Basti, Madhukar Reddy, Fielding J. Hejtmancik

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 173 KB

english, 2002

41

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:

Année:

2005

Langue:

english

Fichier:

PDF, 233 KB

english, 2005

42

Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4

Qingjiong Zhang, Fareeha Zulfiqar, Xueshan Xiao, S. Amer Riazuddin, Radha Ayyagari, Farooq Sabar, Raphael Caruso, Paul A. Sieving, Sheikh Riazuddin, J. Fielding Hejtmancik

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 502 KB

english, 2005

43

Autosomal recessive juvenile onset cataract associated with mutation inBFSP1

Ramya Devi Ramachandran, Vijayalakshmi Perumalsamy, J. Fielding Hejtmancik

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 467 KB

english, 2007

44

Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene

Qingjiong Zhang, Fareeha Zulfiqar, Xueshan Xiao, S. Amer Riazuddin, Zahoor Ahmad, Raphael Caruso, Ian MacDonald, Paul Sieving, Sheikh Riazuddin, J. Fielding Hejtmancik

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 457 KB

english, 2007

45

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:

Année:

2000

Langue:

english

Fichier:

PDF, 159 KB

english, 2000

46

Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1

Xiangming Guo, Huangxuan Shen, Xueshan Xiao, Qilin Dai, Shiqiang Li, Xiaoyun Jia, J. Fielding Hejtmancik, Qingjiong Zhang

Journal:

Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 222 KB

english, 2006

47

Prenatal Diagnosis of Dominant and Recessive Dystrophic Epidermolysis Bullosa: Application and Limitations in the Use of KF-1 and LH 7:2 Monoclonal Antibodies and Immunofluorescence Mapping Technique.

Fine, Jo-David, Eady, Robin A. J., Levy, Moise L., Hejtmancik, J. Fielding, Courtney, Kristine B., Carpenter, Robert J., Holbrook, Karen A., Hawkins, Hal K.

Journal:

The Journal of Investigative Dermatology

Année:

1988

Fichier:

PDF, 3.64 MB

1988

48

Genetic Heterogeneity in Microcornea-Cataract: Five Novel Mutations in CRYAA, CRYGD, and GJA8

Hansen, L., Yao, W., Eiberg, H., Kjaer, K. W., Baggesen, K., Hejtmancik, J. F., Rosenberg, T.

Journal:

Investigative Ophthalmology & Visual Science

Année:

2007

Langue:

english

Fichier:

PDF, 680 KB

english, 2007

49

Toxicity and Carcinogenicity Studies of Oxazepam in the Fischer 344 Rat

John R. Bucher, Joseph K. Haseman, Ron A. Herbert, Milton Hejtmancik, Michael J. Ryan

Journal:

Toxicological Sciences

Année:

1998

Langue:

english

Fichier:

PDF, 175 KB

english, 1998

50

Acute effects of aroclor®1254 (PCB) onIctalurus punctatus(Catfish)

B. J. Camp, E. Hejtmancik, C. Armour, D. H. Lewis

Journal:

Bulletin of Environmental Contamination and Toxicology

Année:

1974

Langue:

english

Fichier:

PDF, 196 KB

english, 1974