Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Kelaginamane Hiriyanna"'
Autor:
Paul A. Sieving, Kent W. Small, Beverly M. Yashar, Richard G. Weleber, Kelaginamane Hiriyanna, David V. Weinberg, Richard A. Lewis, Julia E. Richards, Eve L. Bingham, Sten Andréasson, Gerald A. Fishman, Radha Ayyagari
Publikováno v:
Human Mutation. 14:423-427
Juvenile retinoschisis is an X-linked recessive disease caused by mutations in the XLRS1 gene. We screened 31 new unrelated patients and families for XLRS1 mutations in addition to previously reported mutations for 60 of our families (Retinoschisis C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e3487c67bd9805f38ed4f4edc47aa69
https://doi.org/10.1002/(sici)1098-1004(199911)14:5<423::aid-humu8>3.0.co
https://doi.org/10.1002/(sici)1098-1004(199911)14:5<423::aid-humu8>3.0.co
Publikováno v:
American Journal of Ophthalmology. 128:179-184
PURPOSE: To present an Arg213Trp missense mutation in the XLRS1 gene in a family with juvenile X-linked retinoschisis in which one affected male had a normal electroretinogram scotopic b-wave amplitude. METHODS: Two affected males and one unaffected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b8eae898901b895f80e31db97b4a441
https://doi.org/10.1016/s0002-9394(99)00144-0
https://doi.org/10.1016/s0002-9394(99)00144-0
Autor:
Mordechai Aladjem, Sung Han Kim, Wolfram Henn, Cigdem Altay, Terence P. Speed, Steven M. Haffner, John Blangero, Eve L. Bingham, Chi-Bew Chart, Jerry Pelletier, Katarzyna Dziechciowska, Sung Soo Hong, Paul A. Sieving, Kelaginamane Hiriyanna, Jean W. MacCluer, A. Gürgey, D. Castro de Guerra, Majid Ghahremani, Meridee Segal, Cashell E. Jaquish, Julia E. Richards, Chung Choo Lee, H. Arvelo, Young Bae Park, Francisco M. Salzano, Hemant Pawar, A. Rodríguez Larralde, Jae Jin Chae, Tzvy Bistritzer, Shili Lin, Yong Namkoong, Martin Tieder, André Reis, Michał Witt, Wojciech Cichy, M. P. Stern
Publikováno v:
Human Heredity. 46:I-IV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b8d685faca2d4e391dd5705a67f5790
https://doi.org/10.1159/000154367
https://doi.org/10.1159/000154367
Autor:
Hemant Pawar, Eve L. Bingham, Julia E. Richards, Paul A. Sieving, Kelaginamane Hiriyanna, Meridee Segal
Publikováno v:
Human Heredity. 46:329-335
We studied 17 pedigrees with 108 affected males with X-linked juvenile retinoschisis (RS; McKusick No. 31270) and have analyzed all of the known polymorphic markers in the RS region of Xp22.1-p22.2 between DXS987 and DXS41. By haplotype analyses we f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca43eb46c8690174fb1970a523f8bcf9
https://doi.org/10.1159/000154373
https://doi.org/10.1159/000154373
Autor:
Mineo Kondo, Kelaginamane Hiriyanna, Ronald A. Bush, Paul A. Sieving, Jeffrey A. Jamison, Naheed W. Khan
Publikováno v:
Journal of neurophysiology. 93(1)
Retinal on-pathway dysfunction is implicated in human complete-type congenital stationary night blindness (CSNB1), a Mendelian genetic condition that results from mutations in the NYX gene encoding the protein nyctalopin. We probed cone pathway dysfu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7f3e92d090ddbd93ddfca0592e66b1d
https://pubmed.ncbi.nlm.nih.gov/15331616
https://pubmed.ncbi.nlm.nih.gov/15331616
Autor:
Eric F. Wawrousek, Yuichiro Takada, Kelaginamane Hiriyanna, Sten Kjellstrom, N. Smaoui, Atsuhiro Tanikawa, Paul A. Sieving, Ronald A. Bush, Yong Zeng, Rafael C. Caruso
Publikováno v:
Investigative ophthalmologyvisual science. 45(9)
PURPOSE. To create and evaluate a mouse model of human X-linked juvenile retinoschisis (XLRS) and then investigate whether supplementing with the retinoschisin protein by gene delivery can reverse the abnormal “electronegative” electroretinogram
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac37f06caa2ae82665ccab634b1e731d
https://pubmed.ncbi.nlm.nih.gov/15326152
https://pubmed.ncbi.nlm.nih.gov/15326152
Autor:
Rita Singh-Parikshak, Kelaginamane Hiriyanna, Paul A. Sieving, Radha Ayyagari, B.M. Yashar, Jennifer A. Kemp, Eve L. Bingham
Publikováno v:
New Insights Into Retinal Degenerative Diseases ISBN: 9781461355137
We have analyzed 145 RS families for mutations in the XLRS1 gene and have sought clinical correlation of phenotype severity with the type and location of mutation in a subset of these families. Some of the RS families exhibited consistency of either
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b10fe7a560016bababc29f6f0c995abc
https://doi.org/10.1007/978-1-4615-1355-1_6
https://doi.org/10.1007/978-1-4615-1355-1_6
Autor:
Mordechai Aladjem, Tzvy Bistritzer, Shili Lin, Yong Namkoong, Julia E. Richards, D. Castro de Guerra, Martin Tieder, Michał Witt, Chi-Bew Chart, H. Arvelo, Cigdem Altay, Jerry Pelletier, Francisco M. Salzano, André Reis, Kelaginamane Hiriyanna, Jae Jin Chae, A. Rodríguez Larralde, Chung Choo Lee, Meridee Segal, Katarzyna Dziechciowska, Hemant Pawar, Terence P. Speed, Paul A. Sieving, Jean W. MacCluer, Wojciech Cichy, Steven M. Haffner, John Blangero, M. P. Stern, A. Gürgey, Wolfram Henn, Young Bae Park, Sung Han Kim, Cashell E. Jaquish, Eve L. Bingham, Sung Soo Hong, Majid Ghahremani
Publikováno v:
Human Heredity. 46:347-348
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b776ca07b4eea8467a0a01db0c8b1ebf
https://doi.org/10.1159/000154380
https://doi.org/10.1159/000154380
Autor:
Paul A. Sieving, Sten Andréasson, Radha Ayyagari, Kelaginamane Hiriyanna, Vesna Ponjavic, Eve L. Bingham, Berndt Ehinger, Louise Eksandh
Publikováno v:
Archives of Ophthalmology. 118:1098
Objective To describe the clinical phenotype of juvenile X-linked retinoschisis in patients with different mutations in the XLRS1 gene. Methods Thirty patients with 7 different XLRS1 mutations were examined. The genotype was determined by molecular g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3272066d8e9e510b0cc411d09364c75
https://doi.org/10.1001/archopht.118.8.1098
https://doi.org/10.1001/archopht.118.8.1098
Autor:
Sung Han Kim, Majid Ghahremani, A. Rodríguez Larralde, H. Arvelo, Chung Choo Lee, Francisco M. Salzano, Wojciech Cichy, Paul A. Sieving, Jean W. MacCluer, Young Bae Park, Terence P. Speed, Julia E. Richards, M. P. Stern, Martin Tieder, Hemant Pawar, Kelaginamane Hiriyanna, Jerry Pelletier, Cigdem Altay, André Reis, Katarzyna Dziechciowska, Meridee Segal, Steven M. Haffner, John Blangero, Wolfram Henn, Eve L. Bingham, A. Gürgey, Yong Namkoong, D. Castro de Guerra, Sung Soo Hong, Tzvy Bistritzer, Shili Lin, Mordechai Aladjem, Michał Witt, Cashell E. Jaquish, Chi-Bew Chart, Jae Jin Chae
Publikováno v:
Human Heredity. 46:344-344
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd8422559cd822db65cc702e2a6ccfab
https://doi.org/10.1159/000154378
https://doi.org/10.1159/000154378