Zobrazeno 1 - 10
of 316
pro vyhledávání: '"J.-C. Kaplan"'
Autor:
C. Jeanton-Scaramouche, Carmen Ayuso, Marta Corton, Lucas Fares-Taie, Patricia Ramos, I. Arroyo, Alice Goldenberg, D. Aguilera, Nicolas Chassaing, Jean-Michel Rozet, V. Gaston, Patrick Calvas, Julie Plaisancié, Fiona Blanco-Kelly, H. Dollfus, Christine Francannet, Cristina Villaverde, Maria Tarilonte, J. C. Kaplan
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2018, 137 (10), pp.831-846. ⟨10.1007/s00439-018-1940-x⟩
Human Genetics, Springer Verlag, 2018, 137 (10), pp.831-846. ⟨10.1007/s00439-018-1940-x⟩
International audience; There is an increasing implication of non-coding regions in pathological processes of genetic origin. This is partly due to the emergence of sophisticated techniques that have transformed research into gene expression by allow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a47ea9a42d72e3fff4855cdd9188f7
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03174772
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03174772
Autor:
H. Dollfus, Gilles Morin, J. C. Kaplan, Christine Francannet, Hélène Colineaux, Nicola K. Ragge, Daphné Lehalle, Nicolas Chassaing, Julie Plaisancié, Patrick Calvas
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2018, 93 (4), pp.837-845. ⟨10.1111/cge.13177⟩
Clinical Genetics, Wiley, 2018, 93 (4), pp.837-845. ⟨10.1111/cge.13177⟩
International audience; Microphthalmia and anophthalmia (MA) are severe developmental eye anomalies, many of which are likely to have an underlying genetic cause. More than 30 genes have been described, each of which is responsible for a small percen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d9eaeda59f506912a4df0c029bf6b91
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03160633
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03160633
Autor:
N. Leveziel, J. C. Kaplan, Coscas G, E.H. Souied, Cécile Delcourt, P. Benlian, Gisèle Soubrane, Jennyfer Zerbib, Hélène Dollfus
Publikováno v:
Journal Français d'Ophtalmologie. 32:440-451
Resume La degenerescence maculaire liee a l’âge (DMLA) est la principale cause de malvoyance apres 50 ans dans les pays developpes. Il s’agit d’une maladie multifactorielle et polygenique. Les facteurs environnementaux jouent un role important
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10ed68b30b07a8cca0ba2525b2d8c3d2
https://doi.org/10.1016/j.jfo.2009.04.009
https://doi.org/10.1016/j.jfo.2009.04.009
Autor:
J C Kaplan, D. Hubert, Daniel Dusser, B Richaud-Thiriez, J Dall'Ava-Santucci, R Matran, Thierry Bienvenu, Isabelle Fajac
Publikováno v:
European Respiratory Journal. 12:1295-1300
This study investigated the relations between nasal transepithelial electric potential difference (PD) and the phenotype and genotype of cystic fibrosis (CF) adult patients. Basal nasal PD was measured in 95 adult CF patients who were classified into
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8382a91385cadc074bebb387b8e37601
https://doi.org/10.1183/09031936.98.12061295
https://doi.org/10.1183/09031936.98.12061295
Autor:
Evani Viegas-Péquignot, Arnold Munnich, S Gerber, S. Châtelin, Jean-Michel Rozet, Isabelle Perrault, J. C. Kaplan, D. Molina-Gomez, E.H. Souied, P Calvas
Publikováno v:
Europe PubMed Central
Glutathione is a ubiquitous antioxidant in mammalian tissues. The first step of its synthesis is catalyzed by the glutamate-cysteine ligase (GLCL) which consists of a heavy, catalytic subunit and a light, regulatory subunit (GLCLR). Previous genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58797b2d0e98ff817ebb4fe563a7c57a
https://doi.org/10.1159/000015072
https://doi.org/10.1159/000015072
Autor:
I. Penisson, Marc Jeanpierre, Nathalie Deburgrave, Michel Fardeau, K. Azibi, O. Tanguy, F. Leturcq, Luciano Merlini, Michèle Mayer, Fernando M.S. Tomé, J. C. Kaplan, Kevin P. Campbell, Alain Carrié, Norma B. Romero, Bruno Eymard, F. Piccolo, H. Collin, M. Chaouch, C. Themar-Noel
Publikováno v:
Neurology. 48:1227-1234
Primary adhalin (or alpha-sarcoglycan) deficiency due to a defect of the adhalin gene localized on chromosome 17q21 causes an autosomal recessive myopathy. We evaluated 20 patients from 15 families (12 from Europe and three from North Africa) with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cc90d4002d4fde805f4c1569259f0ba
https://doi.org/10.1212/wnl.48.5.1227
https://doi.org/10.1212/wnl.48.5.1227
Autor:
F. Leturcq, Jacques S. Beckmann, Jon Andoni Urtizberea, K. Azibi, Rajagopal Krishnamoorthy, J.-C. Kaplan, Marc Jeanpierre, Luciano Merlini, C. Navarro, Kevin P. Campbell, Fernando M.S. Tomé, Laura Jarre, Annick Toutain, F. Piccolo, Catherine Dodé
Publikováno v:
Human Molecular Genetics. 5:2019-2022
We investigated the molecular basis of a severe form of early onset autosomal recessive muscular dystrophy with sarcoglycan (SG) deficiency in seven large Gypsy families living in different parts of Western Europe and apparently not closely related.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b67e4942150341517736f5cf44d2b7d0
https://doi.org/10.1093/hmg/5.12.2019
https://doi.org/10.1093/hmg/5.12.2019
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:
Ralf Herrmann, Konrad Oexle, Y. Mizuno, Kevin P. Campbell, Catherine Dodé, F. Leturcq, Ch. Hübner, E. Ozawa, J.-C. Kaplan, Thomas Voit
Publikováno v:
Europe PubMed Central
We report mild-to-moderate neurosensory hearing loss and severe childhood autosomal recessive muscular dystrophy with adhalin-deficiency in two siblings from a Bulgarian sibship of Turkish origin. Microsatellite analysis excluded linkage to the adhal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75b54b598bd80fca267f5ef1d9c93097
https://doi.org/10.1055/s-2007-973744
https://doi.org/10.1055/s-2007-973744
Autor:
Fabien Crozet, J. C. Kaplan, Stéphane Blanchard, Denis Le Paslier, Daniel Cohen, Jean Weissenbach, Hassan Chaib, Catherine Dodé, Dominique Weil, Christine Petit, Parry Guilford, Jacqueline Levilliers, Fabienne Levi-Acobas
Publikováno v:
Genomics. 29:163-169
Two forms of inherited childhood nonsyndromic deafness (DFNB1 and DFNA3) and a Duchenne-like form of progressive muscular dystrophy (LGMD2C) have been mapped to the pericentromeric region of chromosome 13. To clone the genes responsible for these dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bc0d9c2f31c7b0ca5e6be04826c9ced
https://doi.org/10.1006/geno.1995.1227
https://doi.org/10.1006/geno.1995.1227