John H Fingert : rechercher sur Z-Library

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1

Reduced frequency of known mutations in a cohort of LHON patients from India

Sundaresan, Periasamy, Kumar, S. Mahesh, Thompson, Stewart, Fingert, John H.

Journal:

Ophthalmic Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 545 KB

english, 2010

2

Clinical Features Associated with Mutations in the Chromosome 1 Open-Angle Glaucoma Gene ( GLC1A )

Alward, Wallace L.M., Fingert, John H., Coote, Michael A., Johnson, A. Tim, Lerner, S. Fabian, Junqua, Denise, Durcan, Fiona J., McCartney, Paul J., Mackey, David A., Sheffield, Val C., Stone, Edwin M

Journal:

Boston Medical and Surgical Journal

Année:

1998

Langue:

english

Fichier:

PDF, 95 KB

english, 1998

3

Glaucoma-associated corneal endothelial cell damage: A review

Janson, Ben J., Alward, Wallace L., Kwon, Young H., Bettis, Daniel I., Fingert, John H., Provencher, Lorraine M., Goins, Kenneth M., Wagoner, Michael D., Greiner, Mark A.

Journal:

Survey of Ophthalmology

Année:

2017

Langue:

english

Fichier:

PDF, 364 KB

english, 2017

4

Update on Animal Models of Exfoliation Syndrome

Anderson, Michael G., Meyer, Kacie J., Hedberg-Buenz, Adam, Fingert, John H.

Journal:

Journal of Glaucoma

Année:

2018

Langue:

english

Fichier:

PDF, 1.47 MB

english, 2018

5

CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration

Burnight, Erin R., Giacalone, Joseph C., Cooke, Jessica A., Thompson, Jessica R., Bohrer, Laura R., Chirco, Kathleen R., Drack, Arlene V., Fingert, John H., Worthington, Kristan S., Wiley, Luke A., Mu

Journal:

Progress in Retinal and Eye Research

Année:

2018

Langue:

english

Fichier:

PDF, 4.25 MB

english, 2018

6

Long-Term Follow-Up of Normal Tension Glaucoma Patients With TBK1 Gene Mutations in One Large Pedigree

Quist, Tyler S., Johnson, Chris A., Robin, Alan L., Fingert, John H.

Journal:

American Journal of Ophthalmology

Année:

2020

Langue:

english

Fichier:

PDF, 8.16 MB

english, 2020

7

Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His

Michael A. Grassi, John H. Fingert, Todd E. Scheetz, Benjamin R. Roos, Robert Ritch, Sheila K. West, Kazuhide Kawase, Abdirashid M. Shire, Robert F. Mullins, Edwin M. Stone

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 149 KB

english, 2006

8

Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene

Michèle M. Sale, Jamie E. Craig, Jacinta C. Charlesworth, Liesel M. FitzGerald, Isabel M. Hanson, Joanne L. Dickinson, Sarah J. Matthews, Veronica van Heyningen, John H. Fingert, David A. Mackey

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 150 KB

english, 2002

9

Evaluation of variants in the selectin genes in age-related macular degeneration

Robert F Mullins, Jessica M Skeie, James C Folk, Frances M Solivan-Timpe, Thomas A Oetting, Jian Huang, Kai Wang, Edwin M Stone, John H Fingert

Journal:

BMC Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 933 KB

english, 2011

10

Familial non-arteritic anterior ischemic optic neuropathy

Sohan Singh Hayreh, John H. Fingert, Edwin Stone, Daniel M. Jacobson

Journal:

Graefe's Archive for Clinical and Experimental Ophthalmology

Année:

2008

Langue:

english

Fichier:

PDF, 249 KB

english, 2008

11

Genome-wide analysis of copy number variants in age-related macular degeneration

Kacie J. Meyer, Lea K. Davis, Emily I. Schindler, John S. Beck, Danielle S. Rudd, A. Jason Grundstad, Todd E. Scheetz, Terry A. Braun, John H. Fingert, Wallace L. Alward, Young H. Kwon, James C. Folk,

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 591 KB

english, 2011

12

Statistical Tests for Detecting Rare Variants Using Variance-Stabilising Transformations

Kai Wang, John H. Fingert

Journal:

Annals of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 670 KB

english, 2012

13

Assessing proarrhythmic potential of drugs when optimal studies are infeasible

Edwin P. Rock, John Finkle, Howard J. Fingert, Brian P. Booth, Christine E. Garnett, Stephen Grant, Robert L. Justice, Richard J. Kovacs, Peter R. Kowey, Ignacio Rodriguez, Wendy R. Sanhai, Colette St

Journal:

American Heart Journal

Année:

2009

Langue:

english

Fichier:

PDF, 460 KB

english, 2009

14

Familial Cavitary Optic Disk Anomalies: Identification of a Novel Genetic Locus

John H. Fingert, Robert A. Honkanen, Suma P. Shankar, Louisa M. Affatigato, Mary A. Ehlinger, Michael D. Moore, Lee M. Jampol, Val C. Sheffield, Edwin M. Stone, Wallace L.M. Alward

Journal:

American Journal of Ophthalmology

Année:

2007

Langue:

english

Fichier:

PDF, 878 KB

english, 2007

15

Familial Cavitary Optic Disk Anomalies: Clinical Features of a Large Family with Examples of Progressive Optic Nerve Head Cupping

Robert A. Honkanen, Lee M. Jampol, John H. Fingert, Michael D. Moore, Christine M. Taylor, Edwin M. Stone, Wallace L.M. Alward

Journal:

American Journal of Ophthalmology

Année:

2007

Langue:

english

Fichier:

PDF, 3.65 MB

english, 2007

16

LOXL1 Mutations Are Associated with Exfoliation Syndrome in Patients from the Midwestern United States

John H. Fingert, Wallace L.M. Alward, Young H. Kwon, Kai Wang, Luan M. Streb, Val C. Sheffield, Edwin M. Stone

Journal:

American Journal of Ophthalmology

Année:

2007

Langue:

english

Fichier:

PDF, 57 KB

english, 2007

17

Confirmation of TBK1 duplication in normal tension glaucoma

Kazuhide Kawase, R. Rand Allingham, Akira Meguro, Nobuhisa Mizuki, Ben Roos, Frances M. Solivan-Timpe, Alan L. Robin, Robert Ritch, John H. Fingert

Journal:

Experimental Eye Research

Année:

2012

Langue:

english

Fichier:

PDF, 355 KB

english, 2012

18

Myocilin Glaucoma

John H Fingert, Edwin M Stone, Val C Sheffield, Wallace L.M Alward

Journal:

Survey of Ophthalmology

Année:

2002

Langue:

english

Fichier:

PDF, 183 KB

english, 2002

19

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier

Jamie E Craig, Paul N Baird, Danielle L Healey, Andrew I McNaught, Paul J McCartney, Julian L Rait, Joanne L Dickinson, Lynne Roe, John H Fingert, Edwin M Stone, David A Mackey

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 2.86 MB

english, 2001

20

Primary Open-Angle Glaucoma

Kwon, Young H., Fingert, John H., Kuehn, Markus H., Alward, Wallace L.M.

Journal:

Boston Medical and Surgical Journal

Année:

2009

Langue:

english

Fichier:

PDF, 1.85 MB

english, 2009

21

Identification of Proteins that Interact with TANK Binding Kinase 1 and Testing for Mutations Associated with Glaucoma

Seo, Seongjin, Solivan-Timpe, Frances, Roos, Ben R., Robin, Alan L., Stone, Edwin M., Kwon, Young H., Alward, Wallace L.M., Fingert, John H.

Journal:

Current Eye Research

Année:

2013

Langue:

english

Fichier:

PDF, 215 KB

english, 2013

22

SPIE Proceedings [SPIE SPIE Medical Imaging - Lake Buena Vista (Orlando Area), Florida, USA (Saturday 9 February 2013)] Medical Imaging 2013: Computer-Aided Diagnosis - Changes in quantitative 3D shape features of the optic nerve head associated with age

Christopher, Mark, Novak, Carol L., Aylward, Stephen, Tang, Li, Fingert, John H., Scheetz, Todd E., Abramoff, Michael D.

Année:

2013

Langue:

english

Fichier:

PDF, 2.06 MB

english, 2013

23

The genetic aspects of adult-onset glaucoma: a perspective from the Greater Toronto area

Williams-Lyn, Donna, Flanagan, John, Buys, Yvonne, Trope, Graham E., Fingert, John, Stone, Edwin M., Héon, Elise

Journal:

Canadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologie

Année:

2000

Langue:

english

Fichier:

PDF, 497 KB

english, 2000

24

An exploratory phase 2 study of investigational Aurora A kinase inhibitor alisertib (MLN8237) in acute myelogenous leukemia and myelodysplastic syndromes

Goldberg, Stuart L., Fenaux, Pierre, Craig, Michael D., Gyan, Emmanuel, Lister, John, Kassis, Jeannine, Pigneux, Arnaud, Schiller, Gary J., Jung, JungAh, Jane Leonard, E., Fingert, Howard, Westervelt,

Journal:

Leukemia Research Reports

Année:

2014

Langue:

english

Fichier:

PDF, 329 KB

english, 2014

25

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

Shankar, Suma P., Fingert, John H., Carelli, Valerio, Valentino, Maria L., King, Terri M., Daiger, Stephen P., Salomao, Solange R., Berezovsky, Adriana, Belfort, Rubens, Braun, Terri A., Sheffield, Va

Journal:

Ophthalmic Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 5.84 MB

english, 2008

26

Mutation in the SLC4A11 Gene Associated with Autosomal Recessive Congenital Hereditary Endothelial Dystrophy in a Large Saudi Family

Shah, Shaival S., Al-Rajhi, Ali, Brandt, James D., Mannis, Mark J., Roos, Ben, Sheffield, Val C., Syed, Nasreen A., Stone, Edwin M., Fingert, John H.

Journal:

Ophthalmic Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 217 KB

english, 2008

27

Clinical and molecular characterization of a family affected with X-linked ocular albinism(OA1)

Lam, Byron L., Fingert, John H., Shutt, Bryce C., Singleton, E. Mitchell, Merin, Lawrence M., Brown, Harry H., Sheffield, Val C., Stone, Edwin M.

Journal:

Ophthalmic Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 2.23 MB

english, 1997

28

Mitochondrial Variant G4132A is Associated with Familial Non-Arteritic Anterior Ischemic Optic Neuropathy in One Large Pedigree

Fingert, John H., Grassi, Michael A., Janutka, Josesph C., East, Jade S., Howard, James G., Sheffield, Val C., Jacobson, Dan M., Hayreh, Sohan S., Stone, Edwin M.

Journal:

Ophthalmic Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 171 KB

english, 2007

29

Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States

Stamler, John F., Roos, Ben R., Wagoner, Michael D., Goins, Ken M., Kitzmann, Anna S., Riley, Janet B., Stone, Edwin M., Fingert, John H.

Journal:

Ophthalmic Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 553 KB

english, 2013

30

Copy Number Variations and Primary Open-Angle Glaucoma

Davis, Lea K., Meyer, Kacie J., Schindler, Emily I., Beck, John S., Rudd, Danielle S., Grundstad, A. Jason, Scheetz, Todd E., Braun, Terry A., Fingert, John H., Alward, Wallace L. M., Kwon, Young H.,

Journal:

Investigative Ophthalmology & Visual Science

Année:

2011

Langue:

english

Fichier:

PDF, 862 KB

english, 2011

31

Copy Number Variations of TBK1 in Australian Patients With Primary Open-Angle Glaucoma

Awadalla, Mona S., Fingert, John H., Roos, Benjamin E., Chen, Simon, Holmes, Richard, Graham, Stuart L., Chehade, Mark, Galanopolous, Anna, Ridge, Bronwyn, Souzeau, Emmanuelle, Zhou, Tiger, Siggs, Owe

Journal:

American Journal of Ophthalmology

Année:

2015

Langue:

english

Fichier:

PDF, 945 KB

english, 2015

32

Increased Expression of Serum Amyloid A in Glaucoma and Its Effect on Intraocular Pressure

Wang, Wan-Heng, McNatt, Loretta G., Pang, Iok-Hou, Hellberg, Peggy E., Fingert, John H., McCartney, Mitchell D., Clark, Abbot F.

Journal:

Investigative Ophthalmology & Visual Science

Année:

2008

Langue:

english

Fichier:

PDF, 416 KB

english, 2008

33

Automated Quantification of Inherited Phenotypes from Color Images: A Twin Study of the Variability of Optic Nerve Head Shape

Tang, Li, Scheetz, Todd E., Mackey, David A., Hewitt, Alex W., Fingert, John H., Kwon, Young H., Quellec, Gwenole, Reinhardt, Joseph M., Abràmoff, Michael D.

Journal:

Investigative Ophthalmology & Visual Science

Année:

2010

Langue:

english

Fichier:

PDF, 2.28 MB

english, 2010

34

Lyst Mutation in Mice Recapitulates Iris Defects of Human Exfoliation Syndrome

Trantow, Colleen M., Mao, Mao, Petersen, Greg E., Alward, Erin M., Alward, Wallace L. M., Fingert, John H., Anderson, Michael G.

Journal:

Investigative Ophthalmology & Visual Science

Année:

2009

Langue:

english

Fichier:

PDF, 987 KB

english, 2009

35

Automated Segmentation of the Optic Disc from Stereo Color Photographs Using Physiologically Plausible Features

Abra`moff, Michael D., Alward, Wallace L. M., Greenlee, Emily C., Shuba, Lesya, Kim, Chan Y., Fingert, John H., Kwon, Young H.

Journal:

Investigative Ophthalmology & Visual Science

Année:

2007

Langue:

english

Fichier:

PDF, 573 KB

english, 2007

36

Animal Models of Exfoliation Syndrome, Now and Future

John, Simon W.M., Harder, Jeffrey M., Fingert, John H., Anderson, Michael G.

Journal:

Journal of Glaucoma

Année:

2014

Langue:

english

Fichier:

PDF, 211 KB

english, 2014

37

Circumferential Iris Transillumination Defects in Exfoliation Syndrome

Fingert, John H., Burden, James H., Wang, Kai, Kwon, Young H., Alward, Wallace L.M., Anderson, Michael G.

Journal:

Journal of Glaucoma

Année:

2013

Langue:

english

Fichier:

PDF, 148 KB

english, 2013

38

Association of a Novel Mutation in the Retinol Dehydrogenase 12 (RDH12) Gene With Autosomal Dominant Retinitis Pigmentosa

Fingert, John H.

Journal:

Archives of Ophthalmology

Année:

2008

Langue:

english

Fichier:

PDF, 196 KB

english, 2008

39

No Association Between Variations in the WDR36 Gene and Primary Open-Angle Glaucoma

Fingert, John H.

Journal:

Archives of Ophthalmology

Année:

2007

Langue:

english

Fichier:

PDF, 70 KB

english, 2007

40

Thin Central Corneal Thickness and Early-Onset Glaucoma in Lacrimo-auriculo-dento-digital Syndrome

Tandon, Anamika, Tehrani, Shandiz, Greiner, Mark A., Fingert, John H., Alward, Wallace L. M.

Journal:

JAMA Ophthalmology

Année:

2014

Langue:

english

Fichier:

PDF, 376 KB

english, 2014

41

The Optic Nerve Head in Myocilin Glaucoma

Hewitt, Alex W., Bennett, Sonya L., Fingert, John H., Cooper, Richard L., Stone, Edwin M., Craig, Jamie E., Mackey, David A.

Journal:

Investigative Ophthalmology & Visual Science

Année:

2007

Langue:

english

Fichier:

PDF, 206 KB

english, 2007

42

Novel Intragenic FRMD7 Deletion in a Pedigree with Congenital X-Linked Nystagmus

Fingert, John H., Roos, Ben, Eyestone, Mari E., Pham, Joshua D., Mellot, Mei L., Stone, Edwin

Journal:

Ophthalmic Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 600 KB

english, 2010

43

The C677T Variant in the Methylenetetrahydrofolate Reductase Gene Is Not Associated with Disease in Cohorts of Pseudoexfoliation Glaucoma and Primary Open-Angle Glaucoma Patients from Iowa

Fingert, John H., Kwon, Young H., Moore, Paula A., Johnston, Rebecca M., Kim, Kwang-Youn, Sheffield, Val C., Alward, Wallace L. M., Stone, Edwin M.

Journal:

Ophthalmic Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 56 KB

english, 2006

44

Calpain-5 Mutations Cause Autoimmune Uveitis, Retinal Neovascularization, and Photoreceptor Degeneration

Mahajan, Vinit B., Skeie, Jessica M., Bassuk, Alexander G., Fingert, John H., Braun, Terry A., Daggett, Heather T., Folk, James C., Sheffield, Val C., Stone, Edwin M., Barsh, Gregory S.

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 4.28 MB

english, 2012

45

TBK1 and Flanking Genes in Human Retina

Fingert, John H., Darbro, Benjamin W., Qian, Qining, Van Rheeden, Richard, Miller, Kathy, Riker, Megan, Solivan-Timpe, Frances, Roos, Ben R., Robin, Alan L., Mullins, Robert F.

Journal:

Ophthalmic Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 512 KB

english, 2014

46

SPIE Proceedings [SPIE SPIE Medical Imaging - San Diego, California, USA (Saturday 15 February 2014)] Medical Imaging 2014: Computer-Aided Diagnosis - Automated discovery of structural features of the optic nerve head on the basis of image and genetic data

Aylward, Stephen, Hadjiiski, Lubomir M., Christopher, Mark, Tang, Li, Fingert, John H., Scheetz, Todd E., Abramoff, Michael D.

Année:

2014

Langue:

english

Fichier:

PDF, 1.13 MB

english, 2014

47

Exfoliation syndrome: assembling the puzzle pieces

Pasquale, Louis R., Borrás, Terete, Fingert, John H., Wiggs, Janey L., Ritch, Robert

Journal:

Acta Ophthalmologica (Blackwell)

Année:

2015

Langue:

english

Fichier:

PDF, 451 KB

english, 2015

48

The Utility of Diaton Tonometer Measurements in Patients With Ocular Hypertension, Glaucoma, and Glaucoma Tube Shunts

Risma, Justin M., Tehrani, Shandiz, Wang, Kai, Fingert, John H., Alward, Wallace L.M., Kwon, Young H.

Journal:

Journal of Glaucoma

Année:

2016

Langue:

english

Fichier:

PDF, 207 KB

english, 2016

49

Clinical and genetic characterization of a large primary open angle glaucoma pedigree

Kader, Mohideen Abdul, Namburi, Prasanthi, Ramugade, Sarika, Ramakrishnan, R., Krishnadas, Subbiah R., Roos, Ben R., Periasamy, Sundaresan, Robin, Alan L., Fingert, John H.

Journal:

Ophthalmic Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 682 KB

english, 2016

50

Glaucoma Risk Alleles in the Ocular Hypertension Treatment Study

Scheetz, Todd E., Faga, Ben, Ortega, Lizette, Roos, Ben R., Gordon, Mae O., Kass, Michael A., Wang, Kai, Fingert, John H.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 666 KB

english, 2016