Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Françoise Marlhens"'
Autor:
Mireille Claustres, Corinne Bareil, Christian P. Hamel, B. Arnaud, Jean-Michel Griffoin, Françoise Marlhens
Publikováno v:
Retinal Degenerative Diseases and Experimental Therapy ISBN: 9780306461934
RPE65 encodes a retinal pigment epithelium (RPE)-specific protein thought to be involved in the 11 -cis retinoid metabolism, a key process in vision.To evaluate the visual implications of defects in this gene, we screened patients with various types
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd99c6e8e08b94da952f82f578021255
https://doi.org/10.1007/978-0-585-33172-0_3
https://doi.org/10.1007/978-0-585-33172-0_3
Autor:
Eberhart Zrenner, T M Redmond, Christian P. Hamel, Amalric P, Shengfa Liu, Emily L. Harris, Jean-Michel Griffoin, C. Bareil, Françoise Marlhens, C. Eliaou, Mireille Claustres, B. Arnaud
Publikováno v:
Nature Genetics. 17:139-141
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0328c1d35ff9a3128355af7d6f2703e2
https://doi.org/10.1038/ng1097-139
https://doi.org/10.1038/ng1097-139
Autor:
Christian P. Hamel, B. Arnaud, Françoise Marlhens, Mireille Claustres, Jean-Michel Griffoin, Corinne Bareil
Publikováno v:
European journal of human genetics : EJHG. 6(5)
Retinal dystrophies are a complex set of hereditary diseases of the retina that result in the degeneration of photoreceptors. Recent studies have shown that mutations in RPE65, a gene that codes for a retinal pigment epithelium (RPE)-specific protein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fc085b766b6dec17cddda70c53c3008
https://pubmed.ncbi.nlm.nih.gov/9801879
https://pubmed.ncbi.nlm.nih.gov/9801879
Autor:
Pierre Millet, Bernard Arnaud, Christian P. Hamel, Pierre‐André Duval, Jean-Michel Griffoin, Françoise Marlhens
Publikováno v:
Human Mutation. 13:259-259
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::94aff539debea64f785a951f4995974a
https://doi.org/10.1002/(sici)1098-1004(1999)13:3<259::aid-humu18>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1999)13:3<259::aid-humu18>3.0.co
Autor:
Evani Viegas-Péquignot, G Thomas, O. Haguenauer, Olivier Delattre, C. Brossard, Françoise Marlhens, N. Creau-Goldberg, N’Guyen Van Cong, A. Bernard, Bernard Malfoy, Bernard Dutrillaux
Publikováno v:
Human Heredity. 38:156-167
Starting from a chromosome-specific DNA library, we have isolated a human chromosome-specific satellite DNA sequence. This sequence of 635 base pairs (bp) consists of 3.7 alpha DNA monomers of 170-171 bp. Under high stringency it hybridizes to the ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62ddcedce87567a5de91845b5382899d
https://doi.org/10.1159/000153777
https://doi.org/10.1159/000153777
Publikováno v:
Biochemical and biophysical research communications. 129(1)
The activity of manganese superoxide dismutase (MnSOD) revealed by specific staining after gel electrophoresis of cell extracts, is decreased in human fibroblasts transformed by SV 40. The decrease in enzyme activity is attributable to decreased amou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d90c8b4bbeb81dd8f4631c9af1df8103
https://pubmed.ncbi.nlm.nih.gov/2988549
https://pubmed.ncbi.nlm.nih.gov/2988549
Autor:
Jean-Philippe Monpezat, Françoise Marlhens, A. Bernard, Bernard Dutrillaux, Olivier Delattre, Gilles Thomas
Publikováno v:
Nucleic acids research. 15(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cec3c1af8633138eeb573b839bd484de
https://pubmed.ncbi.nlm.nih.gov/2881270
https://pubmed.ncbi.nlm.nih.gov/2881270