Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Sarah J Garnai"'
Autor:
Sarah J Garnai, Michelle L Brinkmeier, Ben Emery, Tomas S Aleman, Louise C Pyle, Biliana Veleva-Rotse, Robert A Sisk, Frank W Rozsa, Ayse Bilge Ozel, Jun Z Li, Sayoko E Moroi, Steven M Archer, Cheng-Mao Lin, Sarah Sheskey, Laurel Wiinikka-Buesser, James Eadie, Jill E Urquhart, Graeme C M Black, Mohammad I Othman, Michael Boehnke, Scot A Sullivan, Gregory L Skuta, Hemant S Pawar, Alexander E Katz, Laryssa A Huryn, Robert B Hufnagel, Genomic Ascertainment Cohort, Sally A Camper, Julia E Richards, Lev Prasov
Publikováno v:
PLoS Genetics, Vol 15, Iss 5, p e1008130 (2019)
Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes with relatively normal anatomy, a high hyperopic refractive error, and frequent association with angle closure glaucoma and vision loss. The condition constitu
Externí odkaz:
https://doaj.org/article/94bbb35e2ae74ac4ade880700b4d20c2
Autor:
Robert B. Hufnagel, Raphaela Goldbach-Mansky, Priyam Jani, Edward W. Cowen, Rachael Wasikowski, Antonette Souto El Husny, Marcus Y. Chen, J. Michelle Kahlenberg, Johann E. Gudjonsson, Sayoko E. Moroi, Adriana Almeida de Jesus, Blake M. Warner, Allison C. Billi, Haitao Wang, Izabela Almeida, Brian P. Brooks, Sarah J. Garnai, Lev Prasov, Edmundo Frota de Almeida, Carlos Ferreira, Shahzad I. Mian, Lam C. Tsoi, Julia E. Richards, Brenda L. Bohnsack, Luciana Negrão Frota de Almeida, Fernando Kok, Bin Guan, Sun Hur
Publikováno v:
J Med Genet
BackgroundSingleton-Merten syndrome (SGMRT) is a rare immunogenetic disorder that variably features juvenile open-angle glaucoma (JOAG), psoriasiform skin rash, aortic calcifications and skeletal and dental dysplasia. Few families have been described
Autor:
Carly J. van der Heide, Jessica N. Cooke Bailey, Susan Williams, Dan Milea, José Paulo Cabral de Vasconcellos, Sadiq M. Abdullahi, Douglas E. Gaasterland, Ifeoma N. Asimadu, Sayoko E. Moroi, Hasnaa Lamari, Sarah J. Garnai, Janey L. Wiggs, Donald L. Budenz, R. Rand Allingham, Julia E. Richards, Jonathan L. Haines, Jerome I. Rotter, Michael G. Anderson, Xiuqing Guo, Robert M. Feldman, Michael A. Hauser, Yii-Der Ida Chen, Hugo Freire Nunes, Leon W. Herndon, John F. Ervin, Stephen Akafo, Radha Ayyagari, Thomas J. Hoffmann, Rachel W. Kuchtey, Michèle Ramsay, Prisca Biangoup Nyamsi, Zheng Li, Eric Jorgenson, Kar Seng Sim, Ebenezer Obeng-Nyarkoh, William C. Bromley, Christopher A. Girkin, Robert N. Weinreb, Alberta A H J Thiadens, Serge Resnikoff, William E. Sponsel, Maggie C.Y. Ng, Christine M. Hulette, Donald W. Bowden, Saydou Bakayoko, Jeffrey M. Liebmann, Harvey Dubiner, Suhanya Okeke, Abba Hydara, Ruth J. F. Loos, Adeyinka O. Ashaye, Olusegun Olaniyi, Mahmoud B. Alhassan, Khaled K. Abu-Amero, Christopher J Hammond, Tin Aung, John H. Fingert, Robert P. Igo, Shih-Hsiu Wang, Rui Barroso Schimiti, Pratap Challa, Robert F. Mullins, Rodolfo A. Perez-Grossmann, Nouhoum Guirou, Margaret A. Pericak-Vance, Anthony Okeke, Pieter W.M. Bonnemaijer, Paulo Vinicius Svidnicki, Abdoulaye Napo, Louise R. Pasquale, Joyce Kabwe, Chiea Chuen Khor, Mônica Barbosa de Melo, Girish N. Nadkarni, CM Chuka-Okosa, Neil Risch, Nkiru Kizor-Akaraiwe, Miles J. Flamme-Wiese, Cornelia M. van Duijn, N J Uche, Joseph Msosa, Olusola Olawoye, Linda M. Zangwill, Mariana B. Oliveira, Caroline C W Klaver, Allison E. Ashley Koch, Vital Paulino Costa, Ngoy Janvier Kilangalanga, Trevor R. Carmichael, Xue Qin, Kent D. Taylor, Yutao Liu, Dianne A. Cruz
Publikováno v:
JAMA-Journal of the American Medical Association, 322(17), 1682-1691. American Medical Association
Jama : Journal of the American Medical Association, 322, 17, pp. 1682-1691
JAMA
Jama : Journal of the American Medical Association, 322, 1682-1691
Jama : Journal of the American Medical Association, 322, 17, pp. 1682-1691
JAMA
Jama : Journal of the American Medical Association, 322, 1682-1691
Importance: Primary open-angle glaucoma presents with increased prevalence and a higher degree of clinical severity in populations of African ancestry compared with European or Asian ancestry. Despite this, individuals of African ancestry remain unde
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort
Autor:
Sarah J. Garnai, Robert B. Hufnagel, Shivani S Kamat, Ehsan Ullah, Brian P. Brooks, Shahzad I. Mian, Grant M. Comer, Bernadete Ayres, Julia E. Richards, Steven M. Archer, Monte A. Del Monte, Laryssa A. Huryn, Sayoko E Moroi, Bin Guan, Christine A Rygiel, Philip Lieu, Jasmine Y Serpen, Hemant Pawar, Laurel Wiinikka-Buesser, Lev Prasov, Cagri G. Besirli, Kayla Johnson, Susan G. Elner
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Nanophthalmos is a rare condition defined by a small, structurally normal eye with resultant high hyperopia. While six genes have been implicated in this hereditary condition (MFRP, PRSS56, MYRF, TMEM98, CRB1,VMD2/BEST1), the relative contribution of
Publikováno v:
Experimental Eye Research. 155:85-90
Crystallin proteins are the most prominent protein of the lens and have been increasingly shown to play critical roles in other tissues, especially the retina. Members of all 3 sub-families of crystallins, alpha-, beta- and gamma-crystallins have bee
Autor:
Mohammad Othman, Gregory L. Skuta, Laurel Wiinikka-Buesser, Jun Li, Lev Prasov, Louise C. Pyle, Alexander E. Katz, Biliana O. Veleva-Rotse, S. A. Sullivan, Sayoko E. Moroi, Robert A. Sisk, Sally A. Camper, Ayse Bilge Ozel, Laryssa A. Huryn, Sarah Sheskey, James Eadie, Frank W. Rozsa, Cheng-mao Lin, Michael Boehnke, Julia E. Richards, Jill E. Urquhart, Michelle L. Brinkmeier, Sarah J. Garnai, Steven M. Archer, Tomas S. Aleman, Robert B. Hufnagel, Ben Emery, Hemant Pawar, Graeme C.M. Black
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 15, Iss 5, p e1008130 (2019)
Genomic Ascertainment Cohort 2019, ' Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice ', PLoS Genetics, vol. 15, no. 5, pp. e1008130 . https://doi.org/10.1371/journal.pgen.1008130
PLoS Genetics, Vol 15, Iss 5, p e1008130 (2019)
Genomic Ascertainment Cohort 2019, ' Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice ', PLoS Genetics, vol. 15, no. 5, pp. e1008130 . https://doi.org/10.1371/journal.pgen.1008130
Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes with relatively normal anatomy, a high hyperopic refractive error, and frequent association with angle closure glaucoma and vision loss. The condition constitu
Autor:
Brian L. Yaspan, Jonathan L. Haines, Caroline M. Schmidt, Donald J. Zack, Jesse Gilbert, Kari Branham, Sara Akbari, Gonçalo R. Abecasis, Sayoko E. Moroi, Hemant Pawar, Megan Ulmer, Wei Chen, Doug Gaasterland, Sarah J. Garnai, R. Rand Allingham, Julia E. Richards, Melisa Nika, David C. Musch, Yutao Liu, Michael A. Hauser, David M. Reed, Anand Swaroop, Janey L. Wiggs, Paul R. Lichter, Jun Li, Mohammad Othman, A. Bilge Ozel, Kathleen M. Scott, John R. Heckenlively, Jae H. Kang, David S. Friedman, Louis R. Pasquale, Frank W. Rozsa, Allison E. Ashley-Koch
Elevated intraocular pressure (IOP) is a major risk factor for glaucoma and is influenced by genetic and environmental factors. Recent genome-wide association studies (GWAS) reported associations with IOP at TMCO1 and GAS7, and with primary open-angl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe7c06c88b6ff4ad2310cdb9a1b78615
https://europepmc.org/articles/PMC3982323/
https://europepmc.org/articles/PMC3982323/
Autor:
Garnai, Sarah J.1,2, Brinkmeier, Michelle L.1,3, Emery, Ben4, Aleman, Tomas S.5,6, Pyle, Louise C.7, Veleva-Rotse, Biliana4, Sisk, Robert A.8, Rozsa, Frank W.1,9, Ozel, Ayse Bilge3, Li, Jun Z.3, Moroi, Sayoko E.1, Archer, Steven M.1, Lin, Cheng-mao1, Sheskey, Sarah1, Wiinikka-Buesser, Laurel1, Eadie, James1, Urquhart, Jill E.10,11, Black, Graeme C.M.10,11, Othman, Mohammad I.1, Boehnke, Michael12
Publikováno v:
PLoS Genetics. 5/2/2019, Vol. 15 Issue 5, p1-37. 37p.
Autor:
Prasov, Lev, Bohnsack, Brenda L., El Husny, Antonette S., Tsoi, Lam C., Bin Guan, Kahlenberg, J. Michelle, Almeida, Edmundo, Haitao Wang, Cowen, Edward W., De Jesus, Adriana A., Jani, Priyam, Billi, Allison C., Moroi, Sayoko E., Wasikowski, Rachael, Almeida, Izabela, Almeida, Luciana N., Kok, Fernando, Garnai, Sarah J., Mian, Shahzad I., Chen, Marcus Y.
Publikováno v:
Journal of Medical Genetics; Mar2022, Vol. 59 Issue 3, p294-304, 19p
Autor:
Hauser, Michael A., Allingham, R. Rand, Aung, Tin, Van Der Heide, Carly J., Taylor, Kent D., Rotter, Jerome I., Wang, Shih-Hsiu J., Bonnemaijer, Pieter W. M., Williams, Susan E., Abdullahi, Sadiq M., Abu-Amero, Khaled K., Anderson, Michael G., Akafo, Stephen, Alhassan, Mahmoud B., Asimadu, Ifeoma, Ayyagari, Radha, Bakayoko, Saydou, Nyamsi, Prisca Biangoup, Bowden, Donald W., Bromley, William C.
Publikováno v:
JAMA: Journal of the American Medical Association; 11/5/2019, Vol. 322 Issue 17, p1682-1691, 10p