J Fielding Hejtmancik: search on 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

Year:

2019

Language:

english

File:

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:

Year:

2015

File:

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:

Year:

2016

Language:

english

File:

PDF, 686 KB

english, 2016

4

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

Year:

1998

Language:

english

File:

PDF, 149 KB

english, 1998

5

Ophthalmology: Cataracts dissolved

Hejtmancik, J. Fielding

Journal:

Year:

2015

Language:

english

File:

PDF, 139 KB

english, 2015

6

Mutations and mechanisms in congenital and age-related cataracts

Shiels, Alan, Hejtmancik, J. Fielding

Journal:

Experimental Eye Research

Year:

2016

Language:

english

File:

PDF, 494 KB

english, 2016

7

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:

Year:

2016

Language:

english

File:

PDF, 1.26 MB

english, 2016

8

Understanding the genetic architecture of human retinal degenerations

Hejtmancik, J. Fielding, Daiger, Stephen P.

Journal:

Proceedings of the National Academy of Sciences

Year:

2020

File:

PDF, 502 KB

2020

9

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

Year:

1987

Language:

english

File:

PDF, 229 KB

english, 1987

10

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

Year:

1991

Language:

english

File:

PDF, 616 KB

english, 1991

11

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

Year:

1992

Language:

english

File:

PDF, 495 KB

english, 1992

12

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

Year:

2001

Language:

english

File:

PDF, 104 KB

english, 2001

13

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

Year:

2010

Language:

english

File:

PDF, 247 KB

english, 2010

14

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:

Year:

1989

Language:

english

File:

PDF, 615 KB

english, 1989

15

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:

Year:

2002

Language:

english

File:

PDF, 173 KB

english, 2002

16

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

17

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:

Year:

2005

Language:

english

File:

PDF, 502 KB

english, 2005

18

Autosomal recessive juvenile onset cataract associated with mutation inBFSP1

Ramya Devi Ramachandran, Vijayalakshmi Perumalsamy, J. Fielding Hejtmancik

Journal:

Year:

2007

Language:

english

File:

PDF, 467 KB

english, 2007

19

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:

Year:

2007

Language:

english

File:

PDF, 457 KB

english, 2007

20

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

21

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

Year:

2006

Language:

english

File:

PDF, 222 KB

english, 2006

22

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

Year:

1988

File:

PDF, 3.64 MB

1988

23

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

Manir Ali, Martin McKibbin, Adam Booth, David A. Parry, Payal Jain, S. Amer Riazuddin, J. Fielding Hejtmancik, Shaheen N. Khan, Sabika Firasat, Mike Shires, David F. Gilmour, Katherine Towns, Anna-Lou

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.05 MB

english, 2009

24

A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa

Lin Li, Naoki Nakaya, Venkata R.M. Chavali, Zhiwei Ma, Xiaodong Jiao, Paul A. Sieving, Sheikh Riazuddin, Stanislav I. Tomarev, Radha Ayyagari, S. Amer Riazuddin, J. Fielding Hejtmancik

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.28 MB

english, 2010

25

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

Jianjun Chen, Zhiwei Ma, Xiaodong Jiao, Robert Fariss, Wanda Lee Kantorow, Marc Kantorow, Eran Pras, Moshe Frydman, Elon Pras, Sheikh Riazuddin, S. Amer Riazuddin, J. Fielding Hejtmancik

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.19 MB

english, 2011

26

The mouse βB1-crystallin promoter: strict regulation of lens fiber cell specificity

Wei V. Chen, J. Fielding Hejtmancik, Joram Piatigorsky, Melinda K. Duncan

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

2001

Language:

english

File:

PDF, 5.04 MB

english, 2001

27

Linkage Mapping of New X-Linked Juvenile Retinoschisis Kindreds Using Microsatellite Markers

Barkur S. Shastry, Fielding J. Hejtmancik, Raymond T. Margherio, Michael T. Trese

Journal:

Biochemical and Biophysical Research Communications

Year:

1996

Language:

english

File:

PDF, 60 KB

english, 1996

28

Recurrent Missense (R197C) and Nonsense (Y89X) Mutations in the XLRS1 Gene in Families with X-Linked Retinoschisis

Barkur S. Shastry, Fielding J. Hejtmancik, Michael T. Trese

Journal:

Biochemical and Biophysical Research Communications

Year:

1999

Language:

english

File:

PDF, 52 KB

english, 1999

29

Linkage Analysis and Physical Mapping near the Gene for X-Linked Agammaglobulinemia at Xq22

Ornella Parolini, J.Fielding Hejtmancik, R.Cutler Allen, John W. Belmont, Gregory L. Lassiter, Mary Jo Henry, David F. Barker, Mary Ellen Conley

Journal:

Year:

1993

File:

PDF, 498 KB

1993

30

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

31

Initiation of endogenous messenger RNA translation on hen oviduct polysomes

J.Fielding Hejtmancik, John P. Comstock

Journal:

Biochimica et Biophysica Acta (BBA) - Nucleic Acids and Protein Synthesis

Year:

1979

Language:

english

File:

PDF, 766 KB

english, 1979

32

Developmental expression of creatine kinase isozymes in mammalian lens

David L. Friedman, J.Fielding Hejtmancik, John N. Hope, M.Benjamin Perryman

Journal:

Experimental Eye Research

Year:

1989

Language:

english

File:

PDF, 4.90 MB

english, 1989

33

Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration

J. Fielding Hejtmancik, Xiaodong Jiao, Anren Li, Yuri V. Sergeev, Xiaoyan Ding, Anil K. Sharma, Chi-Chao Chan, Igor Medina, Albert O. Edwards

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 944 KB

english, 2008

34

Homozygous Null Mutations in the ABCA4 Gene in Two Families With Autosomal Recessive Retinal Dystrophy

Hardeep Pal Singh, Subhadra Jalali, J. Fielding Hejtmancik, Chitra Kannabiran

Journal:

American Journal of Ophthalmology

Year:

2006

Language:

english

File:

PDF, 1.78 MB

english, 2006

35

A Novel Locus for Autosomal Recessive Retinitis Pigmentosa in a Consanguineous Pakistani Family Maps to Chromosome 2p

Shagufta Naz, S. Amer Riazuddin, Lin Li, Mariam Shahid, Samra Kousar, Paul A. Sieving, J. Fielding Hejtmancik, Sheikh Riazuddin

Journal:

American Journal of Ophthalmology

Year:

2010

Language:

english

File:

PDF, 1.05 MB

english, 2010

36

Molecular genetics of age-related cataract

J.Fielding Hejtmancik, Marc Kantorow

Journal:

Experimental Eye Research

Year:

2004

Language:

english

File:

PDF, 118 KB

english, 2004

37

βA3/A1-crystallin in astroglial cells regulates retinal vascular remodeling during development

Debasish Sinha, Andrew Klise, Yuri Sergeev, Stacey Hose, Imran A. Bhutto, Laszlo Hackler Jr., Tanya Malpic-llanos, Sonia Samtani, Rhonda Grebe, Morton F. Goldberg, J. Fielding Hejtmancik, Avindra Nath

Journal:

Molecular and Cellular Neuroscience

Year:

2008

Language:

english

File:

PDF, 2.35 MB

english, 2008

38

Congenital cataracts and their molecular genetics

J. Fielding Hejtmancik

Journal:

Seminars in Cell & Developmental Biology

Year:

2008

Language:

english

File:

PDF, 463 KB

english, 2008

39

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

40

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

41

Patterns of open-angle glaucoma in the Barbados Family Study

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

Journal:

Year:

2001

Language:

english

File:

PDF, 306 KB

english, 2001

42

INVITED EDITORIAL The Genetics of Cataract: Our Vision Becomes Clearer

J. Fielding Hejtmancik

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 66 KB

english, 1998

43

Autosomal Recessive Familial Exudative Vitreoretinopathy Is Associated with Mutations in LRP5

Xiaodong Jiao, Valerio Ventruto, Michael T. Trese, Barkur S. Shastry, J.Fielding Hejtmancik

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 343 KB

english, 2004

44

δ- and β-crystallin mRNA levels in the embryonic and posthatched chicken lens: Temporal and spatial changes during development

J.Fielding Hejtmancik, David C. Beebe, Harry Ostrer, Joram Piatigorsky

Journal:

Developmental Biology

Year:

1985

Language:

english

File:

PDF, 3.24 MB

english, 1985

45

Localization of the gene for familial hypertrophic cardiomyopathy to chromosome 14q1 in a diverse American population

J.Fielding Hejtmancik, Paul A. Brink, Jeffrey Towbin, Rita Hill, Lucy Brink, Grazyna Z Czemuszewicz, Terry Tapscott, Anatole Trakhtenbrolt, M.Benjamin Perryman, Robert Roberts

Journal:

Journal of the American College of Cardiology

Year:

1991

Language:

english

File:

PDF, 322 KB

english, 1991

46

Mapping of the chromosome containing the locus for hypertrophic cardiomyopathy using polymerase chain reaction and radiation hybrids

Adolph Mares Jr., J.Fielding Hejtmancik, Susan A. Ledbetter, David H. Ledbetter, M.Benjamin Perryman, Robert Roberts

Journal:

Journal of the American College of Cardiology

Year:

1991

Language:

english

File:

PDF, 322 KB

english, 1991

47

Size matters, but how much?

J. Fielding Hejtmancik

Journal:

Translational Research

Year:

2011

Language:

english

File:

PDF, 54 KB

english, 2011

48

Prenatal diagnosis and carrier detection of genetic diseases by analysis of deoxyribonucleic acid

Harry Ostrer, J. Fielding Hejtmancik

Journal:

The Journal of Pediatrics

Year:

1988

Language:

english

File:

PDF, 722 KB

english, 1988

49

Molecular Genetic Approach to Newborn Screening for Sickle Cell Disease

DAVID C. JINKS, MINDY VANDERFORD, J. FIELDING HEJTMANCIK, EDWARD R. B. McCABE

Journal:

Annals of the New York Academy of Sciences

Year:

1989

Language:

english

File:

PDF, 58 KB

english, 1989

50

A crystallin gene network in the mouse retina

Templeton, Justin P., Wang, XiangDi, Freeman, Natalie E., Ma, Zhiwei, Lu, Anna, Hejtmancik, Fielding, Geisert, Eldon E.

Journal:

Experimental Eye Research

Year:

2013

Language:

english

File:

PDF, 2.60 MB

english, 2013