Zobrazeno 1 - 10 of 337 pro vyhledávání: '"C, Beldjord"'
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Akademický článek
DHPLC-Based Method for DNA Methylation Analysis of Differential Methylated Regions from Imprinted Genes
Autor: P. Couvert, K. Poirier, A. Carrié, C. Chalas, P. Jouannet, C. Beldjord, T. Bienvenu, J. Chelly, A. Kerjean
Publikováno v: BioTechniques, Vol 34, Iss 2, Pp 356-362 (2003)
The bisulfite genomic sequencing method is one of the most widely used techniques for methylation analysis in heterogeneous unbiased PCR, amplifying for both methylated and unmethylated alleles simultaneously. However, it requires labor-intensive and
Externí odkaz: https://doaj.org/article/3b6ea708c4ef48928ae824897edbd40a
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2
X-chromosome inactivation in female patients with Fabry disease
Autor: O. Dubourg, L. Echevarria, A. Toussaint, Albert Hagège, F. Jabbour, P. De Mazancourt, Dominique P. Germain, D. Eladari, C. Beldjord, Karelle Benistan
Publikováno v: Clinical Genetics. 89:44-54
Fabry disease (FD) is an X-linked genetic disorder caused by the deficient activity of lysosomal α-galactosidase (α-Gal). While males are usually severely affected, clinical presentation in female patients may be more variable ranging from asymptom
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::106d75305c2e8b5d5882da4bde388bfa
https://doi.org/10.1111/cge.12613
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3
Common SNPs of AmelogeninX (AMELX) and Dental Caries Susceptibility
Autor: Adrien Boillot, E. Moulis, F. Vaysse, O. Laboux, S. Grabar, S. Opsahl Vital, Dominique Droz, Frédéric Courson, J.-Y. Sire, T. Davit-Béal, Anne Gaelle Lafont, J.M. Treluyer, Nawfal Al-Hashimi, Martine Hennequin, Catherine Chaussain, O. Chabadel, Barbara Gasse, Hervé Tassery, J.C. Carel, M. Jeanpierre, C. Beldjord, L. Quinquis
Publikováno v: Journal of Dental Research
Journal of Dental Research, 2013, 92 (5), pp.418-424. ⟨10.1177/0022034513482941⟩
Journal of Dental Research, SAGE Publications (UK and US), 2013, 92 (5), pp.418-424. ⟨10.1177/0022034513482941⟩
International audience; Genetic approaches have shown that several genes could modify caries susceptibility; AmelogeninX (AMELX) has been repeatedly designated. Here, we hypothesized that AMELX mutations resulting in discrete changes of enamel micros
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d83417579adcf80fff8da9d33ca6afe6
https://doi.org/10.1177/0022034513482941
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4
X-chromosome inactivation in female patients with Fabry disease
Autor: L, Echevarria, K, Benistan, A, Toussaint, O, Dubourg, A A, Hagege, D, Eladari, F, Jabbour, C, Beldjord, P, De Mazancourt, D P, Germain
Publikováno v: Clinical genetics. 89(1)
Fabry disease (FD) is an X-linked genetic disorder caused by the deficient activity of lysosomal α-galactosidase (α-Gal). While males are usually severely affected, clinical presentation in female patients may be more variable ranging from asymptom
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5b846a3a2dd8b2e5e54da92038e380ec
https://pubmed.ncbi.nlm.nih.gov/25974833
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5
Dental caries and enamelin haplotype
Autor: S. Opsahl Vital, Hervé Tassery, J.-Y. Sire, T. Davit-Béal, Frédéric Courson, A.G. Laffont, Catherine Chaussain, O. Chabadel, O. Laboux, C. Beldjord, E. Moulis, D. Droz, Alexandre Alcaïs, Barbara Gasse, J.M. Treluyer, J.C. Carel, Martine Hennequin, F. Vaysse, N. Bouazza
Publikováno v: Journal of Dental Research
Journal of Dental Research, 2014, 93 (4), pp.360-365. ⟨10.1177/0022034514522060⟩
Journal of Dental Research, SAGE Publications (UK and US), 2014, 93 (4), pp.360-365. ⟨10.1177/0022034514522060⟩
International audience; In the literature, the enamelin gene ENAM has been repeatedly designated as a possible candidate for caries susceptibility. Here, we checked whether ENAM variants could increase caries susceptibility. To this aim, we sequenced
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d6e4293e455dd4d6a2eecb318d23797
https://pubmed.ncbi.nlm.nih.gov/24487377
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6
Contents, Vol. 47, 1997
Autor: P. Chanson, X. Jeunemaitre, M. Talbot, D. Simpson, Emmanuel Gautherot, Annick Martin, Maria Luisa Brandi, Jp. Aubert, Catharina Larsson, F. Mantero, Cx. Zhang, David Wynford-Thomas, Claude Jaffiol, M. Boggild, Simona Mantovani, A.M. Masini, Eric Clauser, A. Angeli, Véronique Alvaro, Cristina Missale, G. Gunz, B. Fournes, A. Enjalbert, Olov Nilsson, I. Morange-Ramos, Charis Eng, B. Conte-Devolx, A. Courseaux, Eric Rouvier, A. Murat, Lars-Ove Farnebo, Alessandra Finardi, Filip Farnebo, G. Cadiot, P. Niccoli, B. Allolio, C. Beldjord, Massimo Giovanelli, Colette Auzan, P. Jaquet, P. Gaudray, Corinne Prévostel, Chiara Fiorentini, A. Ali, M. Giovagnetti, Pascal Meyer, R. Monier, B. Maes, Marco Losa, M. Terzolo, V. Aubert, Xavier Bertagna, Sandra Sigala, J.F. Hewy, W. Farrell, G. Arnaldi, M. Klein, A. Calender, J. Leclère, Jérôme Bertherat, Frederic Lenne, G. Osella, Patricia René, J. Bicknell, Andrea Lania, N. Porchet, Pf. Plouin, C. Gicquel, M.C. Béné, A. Barlier, Lois M. Mulligan, A. Boneu, L. Caccavelli, B. Caillou, Anna Spada, P. Rochefort, G. Opocher, G. Faure, Jacques Barbel, S. Giraud, Deborah J. Marsh, F. Michiels, Johannes Järhult, P. Rodien, Jacob Lagercrantz, Bin Tean Teh, J. Feunteun, G. Weryha, Dominique Joubert, M. Reincke, I. Schuffenecker, J.B. Corcuff, L. Mercken, Kerstin Sandelin, C. Dumont, M. Schlumberger, Y. Le Bouc, E. Modigliani, Yves de Keyzer, V. Pascal-Vigneron, Emilia Ballaré, Günther Weber, A.S. Bates, R.N. Clayton, I. Pellegrini-Bouiller, PierFranco Spano, N. Barbot, Gm. Lenoir
Publikováno v: Hormone Research. 47:I-IV
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d297928ac32ca3c3c7aadb06ed80a60c
https://doi.org/10.1159/000185453
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8
[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing]
Autor: N, Bahi-Buisson, N, Boddaert, Y, Saillour, I, Souville, K, Poirier, P-L, Léger, L, Castelnau, P, Plouin, N, Carion, C, Beldjord, J, Chelly
Publikováno v: Revue neurologique. 164(12)
Malformations of cortical development (MCD) represent a major cause of developmental disabilities and severe epilepsy. Advances in imaging and genetics have improved the diagnosis and classification of these conditions. Up to now, eight genes have be
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f292b4fd23559da635d04752f4d74807
https://pubmed.ncbi.nlm.nih.gov/18808783
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10
Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy
Autor: T, Bienvenu, I, Souville, K, Poirier, C, Aquaviva, L, Burglen, J, Amiel, B, Héron, A, Kaminska, P, Couvert, C, Beldjord, J, Chelly
Publikováno v: Human mutation. 18(3)
Rett syndrome (RTT) is a severe progressive neurological disorder that affects almost exclusively females. The gene responsible for this disorder, MECP2, was recently identified by candidate gene strategy. Mutations were detected in 70-85% of RTT cas
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d2f16275b596051c2353e3ef4904a8f7
https://pubmed.ncbi.nlm.nih.gov/11524737
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