Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Philippe, Millasseau"'
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Identification and characterization of a spinal muscular atrophy-determining gene
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
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3
E-box- and MEF-2-independent muscle-specific expression, positive autoregulation, and cross-activation of the chicken MyoD (CMD1) promoter reveal an indirect regulatory pathway
Autor: C. A. Dechesne, Philippe Millasseau, L. Gannoun-Zaki, Bruce M. Paterson, J. Eldridge, L. Bougueleret, D. Caterina, Qin Wei
Publikováno v: Molecular and Cellular Biology. 14:5474-5486
Members of the MyoD family of gene-regulatory proteins (MyoD, myogenin, myf5, and MRF4) have all been shown not only to regulate the transcription of numerous muscle-specific genes but also to positively autoregulate and cross activate each other's t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::449cd767e7cc52843725367c54cc1b21
https://doi.org/10.1128/mcb.14.8.5474
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4
The 1993–94 Généthon human genetic linkage map
Autor: Jean Morissette, Sophie Marc, Cécile Fizames, Gabor Gyapay, Philippe Millasseau, Alain Vignal, Giorgio Bernardi, Jean Weissenbach, Mark Lathrop, Colette Dib
Publikováno v: Nature Genetics. 7:246-339
In 1992, we described a second-generation genetic linkage map of the human genome. Using 1,267 new microsatellite markers, we now present a new genetic linkage map containing a total of 2,066 (AC)n short tandem repeats, 60% of which show a heterozygo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::674d0a28a69464b43ffaa213c79d9891
https://doi.org/10.1038/ng0694supp-246
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5
A second-generation linkage map of the human genome
Autor: Mark Lathrop, Jean Morissette, Alain Vignal, Jean Weissenbach, Gabor Gyapay, Guy Vaysseix, Philippe Millasseau, Colette Dib
Publikováno v: Nature. 359:794-801
A linkage map of the human genome has been constructed based on the segregation analysis of 814 newly characterized polymorphic loci containing short tracts of (C-A)n repeats in a panel of DNAs from eight large families. Statistical linkage analysis
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c604cffadf06965cf134aa3e14a9fda8
https://doi.org/10.1038/359794a0
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6
Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia
Autor: Ilya, Chumakov, Marta, Blumenfeld, Oxana, Guerassimenko, Laurent, Cavarec, Marta, Palicio, Hadi, Abderrahim, Lydie, Bougueleret, Caroline, Barry, Hiroaki, Tanaka, Philippe, La Rosa, Anne, Puech, Nadia, Tahri, Annick, Cohen-Akenine, Sylvain, Delabrosse, Sébastien, Lissarrague, Françoise-Pascaline, Picard, Karelle, Maurice, Laurent, Essioux, Philippe, Millasseau, Pascale, Grel, Virginie, Debailleul, Anne-Marie, Simon, Dominique, Caterina, Isabelle, Dufaure, Kattayoun, Malekzadeh, Maria, Belova, Jian-Jian, Luan, Michel, Bouillot, Jean-Luc, Sambucy, Gwenael, Primas, Martial, Saumier, Nadia, Boubkiri, Sandrine, Martin-Saumier, Myriam, Nasroune, Hélène, Peixoto, Arnaud, Delaye, Virginie, Pinchot, Mariam, Bastucci, Sophie, Guillou, Magali, Chevillon, Ricardo, Sainz-Fuertes, Said, Meguenni, Joan, Aurich-Costa, Dorra, Cherif, Anne, Gimalac, Cornelia, Van Duijn, Denis, Gauvreau, Gail, Ouellette, Isabel, Fortier, John, Raelson, Tatiana, Sherbatich, Nadejda, Riazanskaia, Evgeny, Rogaev, Peter, Raeymaekers, Jeroen, Aerssens, Frank, Konings, Walter, Luyten, Fabio, Macciardi, Pak C, Sham, Richard E, Straub, Daniel R, Weinberger, Nadine, Cohen, Daniel, Cohen, Gail, Ouelette, John, Realson
Publikováno v: Proceedings of the National Academy of Sciences of the U.S.A., 99, 13675-13680. National Academy of Sciences
A map of 191 single-nucleotide polymorphism (SNPs) was built across a 5-Mb segment from chromosome 13q34 that has been genetically linked to schizophrenia. DNA from 213 schizophrenic patients and 241 normal individuals from Canada were genotyped with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83667f3c76d9cca850cd3d8b7c5233ee
https://pure.eur.nl/en/publications/0848e3a4-4a47-4286-aca4-f79574228a30
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7
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies
Autor: Jean Weissenbach, Denis Le Paslier, Philippe Millasseau, Massimo Zeviani, Lydie Burglen, Philippe Burlet, Daniel Cohen, Sophie Reboullet, Judith Melki, Suzie Lefebvre, Olivier Clermont, Bernard Bénichou, Arnold Munnich
Publikováno v: Science
Science, American Association for the Advancement of Science, 1994, 264 (5164), pp.1474-1477. ⟨10.1126/science.7910982⟩
Scopus-Elsevier
Spinal muscular atrophies (SMAs) represent the second most common fatal autosomal recessive disorder after cystic fibrosis. Childhood spinal muscular atrophies are divided into severe (type I) and mild forms (types II and III). By a combination of ge
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ce6162df9aa5933a8b1fcc71834489f
http://hdl.handle.net/11577/3354593
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