Zobrazeno 1 - 10
of 67
pro vyhledávání: '"E. L. Berson"'
Autor:
E J Schaefer, S J Robins, G M Patton, M A Sandberg, C A Weigel-DiFranco, B Rosner, E L Berson
Publikováno v:
Journal of Lipid Research, Vol 36, Iss 7, Pp 1427-1433 (1995)
In order to test the hypothesis that retinitis pigmentosa (RP) is associated with fatty acid abnormalities within cell membrane phospholipids, red blood cell membrane (RBC) phosphatidylethanolamine (PE) fatty acid content (% of total fatty acids) was
Externí odkaz:
https://doaj.org/article/fcafb3640ebd40298f7536c3b9dfd237
Autor:
Bernard Rosner, C. A. Weigel-Difranco, G M Patton, Michael A. Sandberg, Ernst J. Schaefer, E. L. Berson, Sander J. Robins
Publikováno v:
Journal of Lipid Research, Vol 36, Iss 7, Pp 1427-1433 (1995)
In order to test the hypothesis that retinitis pigmentosa (RP) is associated with fatty acid abnormalities within cell membrane phospholipids, red blood cell membrane (RBC) phosphatidylethanolamine (PE) fatty acid content (% of total fatty acids) was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7254b5b5c85f27a7b991a7a3cfb98bf3
https://doi.org/10.1016/s0022-2275(20)39729-7
https://doi.org/10.1016/s0022-2275(20)39729-7
Publikováno v:
Investigative ophthalmologyvisual science. 42(10)
To determine the spectrum of ABCR mutations associated with Stargardt macular degeneration and cone-rod degeneration (CRD).One hundred eighteen unrelated patients with recessive Stargardt macular degeneration and eight with recessive CRD were screene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9d8b69ba152e8200d3879211ac793bf1
https://pubmed.ncbi.nlm.nih.gov/11527935
https://pubmed.ncbi.nlm.nih.gov/11527935
Publikováno v:
Investigative ophthalmologyvisual science. 41(10)
To identify mutations in the rhodopsin gene in North American patients with autosomal dominant retinitis pigmentosa (ADRP) and to measure the proportion of cases with rhodopsin mutations.Single-strand conformation polymorphism (SSCP) analysis and dir
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c2b5aa9f294e031fb6efc1ae7fe475dc
https://pubmed.ncbi.nlm.nih.gov/10967073
https://pubmed.ncbi.nlm.nih.gov/10967073
Publikováno v:
Investigative ophthalmologyvisual science. 41(9)
To assess the frequency of RPGR and RP2 mutations in a set of 85 patients with X-linked retinitis pigmentosa (XLRP) and to compare the visual function of patients with mutations in RPGR versus RP2.Eighty-five unrelated patients with XLRP were ascerta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::73c0014ec37aec99c4ae6cf8e68a82ab
https://pubmed.ncbi.nlm.nih.gov/10937588
https://pubmed.ncbi.nlm.nih.gov/10937588
Publikováno v:
Investigative ophthalmologyvisual science. 40(10)
To assess visual acuity recovery times and cone photopigment regeneration kinetics after a bleach in the fovea of patients with dominant retinitis pigmentosa due to rhodopsin mutations.The authors measured acuity recovery times by computerized photos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::987b6196dfb7b5d1bf73f199194ec5d0
https://pubmed.ncbi.nlm.nih.gov/10476820
https://pubmed.ncbi.nlm.nih.gov/10476820
Publikováno v:
Investigative ophthalmologyvisual science. 40(8)
To determine the mutation spectrum of the PDE6A gene encoding the alpha subunit of rod cyclic guanosine monophosphate (cGMP)phosphodiesterase and the proportion of patients with recessive retinitis pigmentosa (RP) due to mutations in this gene.The si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::72e3e75b9ef92b34083eb248062b125e
https://pubmed.ncbi.nlm.nih.gov/10393062
https://pubmed.ncbi.nlm.nih.gov/10393062
Publikováno v:
Investigative ophthalmologyvisual science. 40(5)
To determine the frequency and spectrum of mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein (CRALBP) in patients with hereditary retinal degeneration.The single-strand conformation polymorphism (SSCP) technique and a direct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b069f34a09a51432d6ba8a5cf75147ff
https://pubmed.ncbi.nlm.nih.gov/10102299
https://pubmed.ncbi.nlm.nih.gov/10102299
Publikováno v:
Investigative ophthalmologyvisual science. 39(3)
To establish the DNA sequence of the coding regions of the human arrestin locus and to determine whether defects in this sequence are present among patients with retinitis pigmentosa (RP) or types of stationary night blindness in addition to Oguchi d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5101c8a3a0ad5938c973352e9136ca1e
https://pubmed.ncbi.nlm.nih.gov/9501883
https://pubmed.ncbi.nlm.nih.gov/9501883
Publikováno v:
Investigative ophthalmologyvisual science. 38(10)
To measure the proportion of cases of retinitis pigmentosa (RP) caused by mutations in the peripherin/RDS (RDS) and ROM1 genes.The single-strand conformation polymorphism (SSCP) method was used to analyze 227 unrelated patients with dominant or reces
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::283752d41c17bfe0ead231d19f1bcc11
https://pubmed.ncbi.nlm.nih.gov/9331261
https://pubmed.ncbi.nlm.nih.gov/9331261