Zobrazeno 1 - 10
of 16
pro vyhledávání: '"M. Z. Pelias"'
Autor:
L. Tranebjaerg, Richard J.H. Smith, M. Z. Pelias, J. F. Hejtmancik, Bronya J.B. Keats, Richard A. Lewis, Claes Möller, Charles I. Berlin, William J. Kimberling
Publikováno v:
American Journal of Medical Genetics. 50:32-38
The Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1c50f40a15355e4c929dca34704ab44a
https://doi.org/10.1002/ajmg.1320500107
https://doi.org/10.1002/ajmg.1320500107
Autor:
Elizabeth C. Lee, J. Fielding Hejtmancik, Stephen P. Daiger, Mary Guest, Alan C. Bird, Bronya J.B. Keats, William Reardon, William J. Kimberling, Richard J.H. Smith, M. Z. Pelias, Radha Ayyagari, Marcelle Jay
Publikováno v:
Genomics. 14:995-1002
The Usher syndromes (USH) are autosomal recessive diseases characterized by congenital sensorineural hearing loss and progressive pigmentary retinopathy. While relatively rare in the general population, collectively they account for approximately 6%
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d15580f2771a4f6c037cbf047d8f3f69
https://doi.org/10.1016/s0888-7543(05)80122-3
https://doi.org/10.1016/s0888-7543(05)80122-3
Autor:
Richard A. Lewis, William J. Kimberling, Mark Leppert, J. Fielding Hejtmancik, Alexander A. Todorov, Richard J.H. Smith, M. Z. Pelias, Bronya J.B. Keats, Larry D. Atwood
Publikováno v:
Genomics. 14:707-714
Usher Syndrome Type 1 is an autosomal recessive disease characterized by profound congenital hearing impairement and vestibular dysfunction followed by the onset of retinitis pigmentosa in childhood or early adolescence. Members of the Usher Syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b778c9eaa8642e7003be93f4d61fc92b
https://doi.org/10.1016/s0888-7543(05)80172-7
https://doi.org/10.1016/s0888-7543(05)80172-7
Autor:
J. F. Hejtmancik, Stephen P. Daiger, Bronya J.B. Keats, William J. Kimberling, Richard J.H. Smith, M. Z. Pelias
Publikováno v:
American Journal of Medical Genetics. 43:964-969
A number of Usher syndrome (USH) families are found among the French-Acadians living in southwestern Louisiana. These families are descended from a few common ancestors, suggesting that USH may be homogeneous within this ethnic group. However, we rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e90bd583015c3ce57b6f8b9ecc4b6f6
https://doi.org/10.1002/ajmg.1320430612
https://doi.org/10.1002/ajmg.1320430612
Autor:
M Z, Pelias, M M, DeAngelis
Publikováno v:
Loyola law review. 45(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e6e893da3894729143d234f196c99fa2
https://pubmed.ncbi.nlm.nih.gov/16622958
https://pubmed.ncbi.nlm.nih.gov/16622958
Autor:
M Z, Pelias, N J, Markward
Publikováno v:
Emory law journal. 49(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::214bec894c79aa066ebb984426031f2f
https://pubmed.ncbi.nlm.nih.gov/12645564
https://pubmed.ncbi.nlm.nih.gov/12645564
Publikováno v:
Molecular vision. 1
To refine the map position of the Usher syndrome type 1C (USH1C) locus to 11p14-p15.1 in the French-Acadian population settled in Louisiana.Linkage and haplotype analysis of Ush1C in the French-Acadian families from southwestern Louisiana was carried
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::82d300f8cf30ff26a37c8160b91711a6
https://pubmed.ncbi.nlm.nih.gov/9238080
https://pubmed.ncbi.nlm.nih.gov/9238080
Publikováno v:
American journal of human genetics. 54(4)
Usher syndrome type I is an autosomal recessive disease characterized by profound congenital hearing impairment and vestibular dysfunction followed by the onset of progressive pigmentary retinopathy in childhood or early adolescence. A locus (USH1C)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5e92e1f451b52c112a673d59092e1ad7
https://pubmed.ncbi.nlm.nih.gov/8128966
https://pubmed.ncbi.nlm.nih.gov/8128966
Autor:
R J, Smith, C I, Berlin, J F, Hejtmancik, B J, Keats, W J, Kimberling, R A, Lewis, C G, Möller, M Z, Pelias, L, Tranebjaerg
Publikováno v:
American journal of medical genetics. 50(1)
The Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::baf0cd4dfbfaed31d4225e11f69cdfd5
https://pubmed.ncbi.nlm.nih.gov/8160750
https://pubmed.ncbi.nlm.nih.gov/8160750
Publikováno v:
American journal of medical genetics. 46(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::282ae0efebf52a648368c12564eb09a5
https://pubmed.ncbi.nlm.nih.gov/8357030
https://pubmed.ncbi.nlm.nih.gov/8357030