Zobrazeno 1 - 10
of 72
pro vyhledávání: '"M. Béri"'
Publikováno v:
Results in Engineering, Vol 23, Iss , Pp 102389- (2024)
Structural Health Monitoring (SHM) techniques are key to monitor the health state of engineering structures, where damage type, location and severity are to be estimated by applying sophisticated techniques to signals measured by sensors. However, ve
Externí odkaz:
https://doaj.org/article/51c3845f354b4adbb07e7dcb33c1543a
Autor:
Claire Beneteau, Marie-José Grégoire, Christophe Philippe, Marie Marvier, Juliette Piard, M. Béri, Philippe Jonveaux, Virginie Roth, B. Leheup, Céline Bonnet, M. Valduga
Publikováno v:
American Journal of Medical Genetics Part A. :1933-1941
The clinical significance of an interstitial duplication of chromosome 15q11q13 is still not well documented. This abnormality has been associated with autistic spectrum disorders (ASD) and varying degrees of mental retardation. The clinical variabil
Autor:
A. Miton, M. Valduga, M. Béri, Christophe Nemos, B. Foliguet, Philippe Jonveaux, P. Bach Segura, O. Thiebaugeorges, Christophe Philippe, Céline Bonnet
Publikováno v:
Prenatal Diagnosis. 30:333-341
Objective To retrospectively define the frequency and the nature of submicroscopic chromosomal imbalances among fetuses with multiple congenital anomalies (MCA). Methods We used oligonucleotide arrays to perform comparative genomic hybridization afte
Autor:
B. Leheup, M. Béri, Céline Bonnet, Philippe Jonveaux, Marie-José Grégoire, Christophe Philippe
Publikováno v:
American Journal of Medical Genetics Part A. :1280-1289
Investigation of chromosomal rearrangements in patients with mental retardation (MR) is particularly informative in the search for novel genes involved in MR. We report on a family with a genomic duplication at Xq25 identified by oligo array-CGH. Fur
Publikováno v:
Breast, Vol 68, Iss , Pp S28- (2023)
Externí odkaz:
https://doaj.org/article/074f13197dc14b66b0c7a8436bc4817e
Autor:
Camille Leroy, Pascale Kleinfinger, Dominique Gaillard, Roselyne Garnotel, Marie-Laurence Poli-Merol, Caroline Fiquet, Martine Doco-Fenzy, M. Béri, Philippe Jonveaux, Pierre-François Souchon, Christine Pietrement, Emilie Landais, Stéphanie Brunet, Valérie Koubi
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (6), pp.1275-1284. ⟨10.1002/ajmg.a.36995⟩
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (6), pp.1275-1284. ⟨10.1002/ajmg.a.36995⟩
International audience; Familial transmission of chromosome 6 duplications is rare. We report on the first observation of a maternally-inherited pure segmental 6q duplication split into two segments, 6q15q16.3 and 6q16.3q21, and associated with obesi
Autor:
M. Béri, Philippe Jonveaux, S. El Chehadeh, P. Callier, Julien Thevenon, Céline Bonnet, Muriel Payet, Alice Masurel-Paulet, Clémence Ragon, N. Seta, Laurence Faivre, Anne-Laure Mosca-Boidron, C. Thauvin-Robinet, Francine Mugneret, T. Dupré, Laurence Duplomb, Nathalie Marle
Publikováno v:
JIMD Reports ISBN: 9783662466995
Intellectual disability (ID), which affects around 2–3% of the general population, is classically divided into syndromic and nonsyndromic forms, with several modes of inheritance. Nonsyndromic autosomal recessive ID (NS-ARID) appears extremely hete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3045b93c5e87c49eedccb6de8f1da7b
https://doi.org/10.1007/8904_2014_390
https://doi.org/10.1007/8904_2014_390
Publikováno v:
Acta Psychologica, Vol 230, Iss , Pp 103773- (2022)
In two studies we investigate the role of affective factors and top-down processes underlying production and deliberate control of emotional facial expressions and its neural underpinnings. In Study 1 we examine facial expressions of joy, fear and di
Externí odkaz:
https://doaj.org/article/5722725bda1f435fa36cac52f26becce
Autor:
Peter Vollenweider, Leena Peltonen, Audrey Labalme, Jessica L. Buxton, Alessandra Ferrarini, Dawn M. Waterworth, Sven Bergmann, Gérard Waeber, Marie Pigeyre, Sébastien Jacquemont, Vincent Mooser, Audrey Guilmatre, C. Lecoeur, Muriel Holder-Espinasse, Bettina Blaumeiser, Elena G. Bochukova, Ni Huang, Andrew Walley, Danielle Martinet, Peter Jacobson, B. Leheup, Marie-Pierre Lemaitre, A. Brioschi, Julia M. Keogh, Damien Sanlaville, Stephen O'Rahilly, Robert Sladek, Bruno Delobel, Fanny Stutzmann, Sophie Dupuis-Girod, Philippe Froguel, Muriel Gaillard, Anne Philippe, Katrin Männik, Jean-Marie Cuisset, M. Béri-Dexheimer, Lachlan J. M. Coin, Fei Chen, François Pattou, Katrin Õunap, Mari Nelis, A.-L. Hartikainen, Jean-Claude Chèvre, Philippe Jonveaux, Alice Goldenberg, Kay D. MacDermot, Elana Henning, Odile Boute, Sonia Bouquillon, Armand Valsesia, Valérie Malan, Stéphane Lobbens, R. F. Kooy, Alexandra I. F. Blakemore, Marie-Pierre Cordier, Lena M. S. Carlsson, Marjo-Riitta Järvelin, Lars Sjöström, Paul Elliott, C Le Caignec, Florence Fellmann, Nadège Calmels, Dominique Campion, M. M. van Haelst, Vincent Vatin, B. Balkau, Jacques S. Beckmann, Mark I. McCarthy, Robert Caiazzo, Jean-Louis Mandel, Joris Andrieux, Nouchine Hadjikhani, Catherine Vincent-Delorme, David Meyre, Ants Kurg, J. S. El-Sayed Moustafa, Johanna C. Andersson, Jean Chiesa, Michèle Mathieu-Dramard, R. Touraine, Tõnu Esko, Albert David, Alexandre Reymond, Priit Palta, Ghislaine Plessis, Andres Metspalu, Robin G. Walters, Vittorio Giusti, Richard J. Ellis, Bertrand Isidor, Anne-Emmanuelle Ambresin, A J de Smith, I. S. Farooqi, Matthew E. Hurles, Mario Falchi
Publikováno v:
Nature, 463(7281), 671-5. Nature Publishing Group
Nature
Nature, vol. 463, no. 7281, pp. 671-675
Nature; Vol 463
Walters, R G, Jacquemont, S, Valsesia, A, de Smith, A J, Martinet, D, Andersson, J, Falchi, M, Chen, F, Andrieux, J, Lobbens, S, Delobel, B, Stutzmann, F, El-Sayed Moustafa, J S, Chèvre, J-C, Lecoeur, C, Vatin, V, Bouquillon, S, Buxton, J L, Boute, O, Holder-Espinasse, M, Cuisset, J-M, Lemaitre, M-P, Ambresin, A-E, Brioschi, A, Gaillard, M, Giusti, V, Fellmann, F, Ferrarini, A, Hadjikhani, N, Campion, D, Guilmatre, A, Goldenberg, A, Calmels, N, Mandel, J-L, Le Caignec, C, David, A, Isidor, B, Cordier, M-P, Dupuis-Girod, S, Labalme, A, Sanlaville, D, Béri-Dexheimer, M, Jonveaux, P, Leheup, B, Ounap, K, Bochukova, E G, Henning, E, Keogh, J, Ellis, R J, Macdermot, K D, van Haelst, M M, Vincent-Delorme, C, Plessis, G, Touraine, R, Philippe, A, Malan, V, Mathieu-Dramard, M, Chiesa, J, Blaumeiser, B, Kooy, R F, Caiazzo, R, Pigeyre, M, Balkau, B, Sladek, R, Bergmann, S, Mooser, V, Waterworth, D, Reymond, A, Vollenweider, P, Waeber, G, Kurg, A, Palta, P, Esko, T, Metspalu, A, Nelis, M, Elliott, P, Hartikainen, A-L, McCarthy, M I, Peltonen, L, Carlsson, L, Jacobson, P, Sjöström, L, Huang, N, Hurles, M E, O'Rahilly, S, Farooqi, I S, Männik, K, Jarvelin, M-R, Pattou, F, Meyre, D, Walley, A J, Coin, L J M, Blakemore, A I F, Froguel, P & Beckmann, J S 2010, ' A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 ', Nature, vol. 463, no. 7281, pp. 671-5 . https://doi.org/10.1038/nature08727
Nature, 463(7281), 671-U104. Nature Publishing Group
Nature
Nature, vol. 463, no. 7281, pp. 671-675
Nature; Vol 463
Walters, R G, Jacquemont, S, Valsesia, A, de Smith, A J, Martinet, D, Andersson, J, Falchi, M, Chen, F, Andrieux, J, Lobbens, S, Delobel, B, Stutzmann, F, El-Sayed Moustafa, J S, Chèvre, J-C, Lecoeur, C, Vatin, V, Bouquillon, S, Buxton, J L, Boute, O, Holder-Espinasse, M, Cuisset, J-M, Lemaitre, M-P, Ambresin, A-E, Brioschi, A, Gaillard, M, Giusti, V, Fellmann, F, Ferrarini, A, Hadjikhani, N, Campion, D, Guilmatre, A, Goldenberg, A, Calmels, N, Mandel, J-L, Le Caignec, C, David, A, Isidor, B, Cordier, M-P, Dupuis-Girod, S, Labalme, A, Sanlaville, D, Béri-Dexheimer, M, Jonveaux, P, Leheup, B, Ounap, K, Bochukova, E G, Henning, E, Keogh, J, Ellis, R J, Macdermot, K D, van Haelst, M M, Vincent-Delorme, C, Plessis, G, Touraine, R, Philippe, A, Malan, V, Mathieu-Dramard, M, Chiesa, J, Blaumeiser, B, Kooy, R F, Caiazzo, R, Pigeyre, M, Balkau, B, Sladek, R, Bergmann, S, Mooser, V, Waterworth, D, Reymond, A, Vollenweider, P, Waeber, G, Kurg, A, Palta, P, Esko, T, Metspalu, A, Nelis, M, Elliott, P, Hartikainen, A-L, McCarthy, M I, Peltonen, L, Carlsson, L, Jacobson, P, Sjöström, L, Huang, N, Hurles, M E, O'Rahilly, S, Farooqi, I S, Männik, K, Jarvelin, M-R, Pattou, F, Meyre, D, Walley, A J, Coin, L J M, Blakemore, A I F, Froguel, P & Beckmann, J S 2010, ' A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 ', Nature, vol. 463, no. 7281, pp. 671-5 . https://doi.org/10.1038/nature08727
Nature, 463(7281), 671-U104. Nature Publishing Group
Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic contribution. Recent extensive genome-wide association studies (GWASs) have identified numerous
Publikováno v:
Pathologie-biologie. 55(1)
Chromosomal aberrations are the first cause of mental impairment and dysmorphism. Rearrangements involving large chromosomal segments can be detected by standard chromosome analysis using GTG-banding, but this technique is not suited for the detectio