Zobrazeno 1 - 10
of 127
pro vyhledávání: '"Jean, Frézal"'
Autor:
Axel Kahn, Jacques Glowinski, Jean Frézal, Jean Hamburger, Jean-Claude Dreyfus, Jean-François Lacronique, François Jacob, Michel G. Bergeron
Publikováno v:
médecine/sciences. 31:9-26
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::03a73e0ebc47b3080220f9518f865934
https://doi.org/10.1051/medsci/201531s1003
https://doi.org/10.1051/medsci/201531s1003
Autor:
Jean-François, Lacronique, Michel, Bergeron, Jacques, Glowinski, Jean, Frézal, Axel, Kahn, Jean-Claude, Dreyfus, Jean, Hamburger, François, Jacob
Publikováno v:
Medecine sciences : M/S.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e369118d82bb409de50a5724487db04a
https://pubmed.ncbi.nlm.nih.gov/26038810
https://pubmed.ncbi.nlm.nih.gov/26038810
Publikováno v:
Clinical Genetics. 7:37-39
A complete family investigation was made for 598 cases of retinoblastoma and details of any associated congenital malformations were recorded. Associated malformations were found in seven cases, four of which were cleft palate. There was a highly sig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0737044cffe0255dcf35ed30eba2f2bb
https://doi.org/10.1111/j.1399-0004.1975.tb00360.x
https://doi.org/10.1111/j.1399-0004.1975.tb00360.x
Autor:
Jean Frézal
Publikováno v:
Comptes Rendus de l'Académie des Sciences - Series III - Sciences de la Vie. 321:805-817
This article aims to illustrate the potentialities of the Genatlas database, taking, as an example, the developmental genes and their associated diseases in man. These genes belong to several categories intervening from the first stages of embryonic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df8e8ba2cb501e65c9ecc6f7a80219a1
https://doi.org/10.1016/s0764-4469(99)80021-3
https://doi.org/10.1016/s0764-4469(99)80021-3
Publikováno v:
Human Molecular Genetics. 7:1531-1536
Childhood spinal muscular atrophy (SMA) is a common recessive autosomal disorder that results in degeneration of lower motor neurons. The identification of the disease gene, Survival of Motor Neuron (SMN), was a major advance in understanding the mol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a7c0029977220cd23f17e20172bdb35
https://doi.org/10.1093/hmg/7.10.1531
https://doi.org/10.1093/hmg/7.10.1531
Autor:
Agnès Camuzat, Hélène Dollfus, Eric H Souied, Sophie Châtelin, Isabelle Perrault, Le Paslier D, Arnold Munnich, Imad Ghazi, Corinne Leowski, J.L. Dufier, J. C. Kaplan, Michèle Bonnemaison, Jean-Michel Rozet, P Calvas, Steven J. Pittler, Jean Frézal, Sylvie Gerber
Publikováno v:
Nature Genetics. 14:461-464
Leber's congenital amaurosis (LCA, MIM 2040001), the earliest and most severe form of inherited retinopathy, accounts for at least 5% of all inherited retinal dystrophies2,3. This autosomal recessive condition is usually recognized at birth or during
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ec4b737de42fbc719e8b9695c456ef7
https://doi.org/10.1038/ng1296-461
https://doi.org/10.1038/ng1296-461
Autor:
Michèle Bonnemaison, Jean-Louis Dufier, Corinne Leowski, Marie-Louise Briard, Hélène Dollfus, Dominique Bonneau, Jean-Michel Rozet, Sylvie Gerber, Jean Frézal, Josseline Kaplan, Agnès Camuzat, Jean Weissenbach, Imad Ghazi, Arnold Munnich
Publikováno v:
Human Molecular Genetics. 4:1447-1452
Leber's congenital amaurosis (LCA) is an autosomal recessive disease responsible for congenital blindness. It is the most early and severe form of inherited retinopathy and accounts for 5% of all inherited retinal dystrophies. Here we report the firs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec01b09fce03cb76007e2b111e331d16
https://doi.org/10.1093/hmg/4.8.1447
https://doi.org/10.1093/hmg/4.8.1447
Autor:
Jean Weissenbach, Lydie Burglen, Olivier Clermont, Philippe Burlet, Judith Melki, Corinne Cruaud, Denis Le Paslier, Sophie Reboullet, Suzie Lefebvre, Massimo Zeviani, Daniel Cohen, Bernard Bénichou, Philippe Millasseau, Arnold Munnich, Louis Viollet, Jean Frézal
Publikováno v:
Cell. 80(1):155-165
Spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder characterized by degeneration of lower motor neurons, leading to progressive paralysis with muscular atrophy. The gene for SMA has been mapped to chromosome 5q13, where larg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::826cf8aadc5b8568a683689f687e735b
Publikováno v:
Ophthalmic Paediatrics and Genetics. 13:37-47
In this review the authors first give an overview of the general strategies of mapping which differ whether the biochemical (molecular) defect of the disease is known or not. The main problems besides mapping are concerned for the first category with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ffb277aa536428f63a37d07b5616b8e
https://doi.org/10.3109/13816819209087603
https://doi.org/10.3109/13816819209087603
Autor:
Hubert Journel, Pierre Guibaud, Josué Feingold, Philippe Labrune, Philippe Tron, Jean Rey, Arnold Munnich, Marie-Louise Briard, Catherine Caillaud, Françoise Rey, Henri Plauchu, N Maurin, Jean-Louis Nivelon, D. Melle, M. Berthelon, Jean Frézal, Jean-Pierre Farriaux, Jean-Marie Saudubray, Stanislas Lyonnet, Bernard Le Marec
Publikováno v:
Human Genetics. 86:355-358
A total of 252 chromosomes from 126 patients with phenylalanine hydroxylase (PAH) deficiencies were analyzed for both mutant genotypes and restriction fragment length polymorphism (RFLP) haplotypes at the PAH locus. The mutant genes studied originate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca9c892fe8064eb522e05158b236ef7f
https://doi.org/10.1007/bf00201832
https://doi.org/10.1007/bf00201832