Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Jean-Baptiste Rivière"'
Publikováno v:
Trends in Genetics. 38:321-324
Maturity-onset diabetes in the young (MODY) comprises monogenic phenotypes of young-onset, insulinopenic diabetes. All its forms are dominantly inherited. Why? Are the pancreatic β cells only harmed by heterozygous variants? We propose that recessiv
Publikováno v:
Journal of Clinical Lipidology. 16:e53-e54
BACKGROUND Familial Hypercholesterolemia (FH) is the most common genetic disorder in humans with an estimated prevalence of 1/311. In geographic regions with founder effect mutations, such as the province of Quebec, prevalence is as high as 1/80. FH
Autor:
Richard S. Fraser, Philippe Broët, Andrea Gomez Corredor, Nicole Ezer, Léon C van Kempen, Jonathan Spicer, Sophie Camilleri-Broët, H. Wang, George Chong, Alan Spatz, Pierre Fiset, Jean-Baptiste Rivière, Ayesha Baig, Marianne S M Issac
Publikováno v:
Cancer Treatment and Research Communications, 29:100484
Cancer Treatment and Research Communications, Vol 29, Iss, Pp 100484-(2021)
Cancer Treatment and Research Communications, Vol 29, Iss, Pp 100484-(2021)
MICROABSTRACT: Integration of Next Generation Sequencing (NGS) information for use in distinguishing between Multiple Primary Lung Cancer and intrapulmonary metastasis was evaluated. We used a probabilistic model, comprehensive histologic assessment
Autor:
Lisa Weibel, Jean-Baptiste Rivière, Christophe Philippe, Virginie Carmignac, Paul Kuentz, Arthur Sorlin, Sylvie Fraitag, Laurence Faivre, C. Thauvin-Robinet, Pierre Vabres, Yannis Duffourd, Annabel Maruani, Jeanne Amiel, Olivia Boccara, Martin Theiler
Publikováno v:
Journal of the European Academy of Dermatology and Venereology
Journal of the European Academy of Dermatology and Venereology, Wiley, 2021, ⟨10.1111/jdv.17413⟩
Journal of the European Academy of Dermatology and Venereology, Wiley, 2021, ⟨10.1111/jdv.17413⟩
BRAF postzygotic activating mutations have been found in 50% of cases of syringocystadenoma papilliferum (SCAP)1 and in phacomatosis pigmentokeratotica (PPK)2,3 , also possibly caused by HRAS4 mutations. BRAF is a RAS-activating serine/threonine kina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::202dc28708708d4a0e43e3f7a787ae52
https://hal.archives-ouvertes.fr/hal-03342804
https://hal.archives-ouvertes.fr/hal-03342804
Autor:
Renzo Guerrini, Ghayda M. Mirzaa, William B. Dobyns, Sarah Collins, Carissa Olds, Maha S. Zaki, Andrew E. Timms, David H. Ledbetter, Conti, M. E. Ross, Elena Parrini, Di Donato N, Candace T. Myers, James T. Bennett, Gemma L. Carvill, Sara Chiari, Kimberly A. Aldinger, Joseph G. Gleeson, Andreas Rump, Jean-Baptiste Rivière, Davide Mei
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose To estimate diagnostic yield and genotype-phenotype correlations in a cohort of 811 patients with lissencephaly or subcortical band heterotopia. Methods We collected DNA from 756 children with lissencephaly over 30 years. Many were tested for
Autor:
Andrea, Accogli, G, Eric Jarvis, Alessandra, Schiavetto, Laurence, Lai, Evangelia L, Amirali, Daniel Alexander, Jimenez Cruz, Jean-Baptiste, Rivière, Yannis, Trakadis
Publikováno v:
Journal of genetics. 99
Autor:
Marjolaine Willems, Olivier Prodhomme, Guillaume Captier, Thomas Guignard, Anne Boland, Kevin Yauy, Ikram Taleb Arrada, Vincent Meyer, Frédéric Tran Mau-Them, Jean-François Deleuze, Patricia Blanchet, Christian Herlin, Jean-Baptiste Rivière, Mouna Barat-Houari, Elodie Sanchez, Yannis Duffourd, Christine Coubes, David Geneviève, Marie-Pascale Le Gac, Jean-Michel Faure
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2018, 20 (2), pp.269-274. ⟨10.1038/gim.2017.109⟩
Genetics in Medicine, Nature Publishing Group, 2017, 〈https://www.nature.com/articles/gim2017109〉. 〈10.1038/gim.2017.109〉
Genetics in Medicine, 2018, 20 (2), pp.269-274. ⟨10.1038/gim.2017.109⟩
Genetics in Medicine, Nature Publishing Group, 2018, 20 (2), pp.269-274. ⟨10.1038/gim.2017.109⟩
Genetics in Medicine, Nature Publishing Group, 2017, 〈https://www.nature.com/articles/gim2017109〉. 〈10.1038/gim.2017.109〉
Genetics in Medicine, 2018, 20 (2), pp.269-274. ⟨10.1038/gim.2017.109⟩
International audience; PurposeBased on prenatal suspicion of the combination of radioulnar or radiohumeral synostosis and a peculiar shape of the skull suggestive of craniosynostosis, we report on six patients from four unrelated consanguineous fami
Autor:
C. Thauvin-Robinet, Nada Houcinat, Daphné Lehalle, A Vital, Laurence Faivre, Agnès Rötig, Jaak Jaeken, Fan Xia, Matthew N. Bainbridge, Marlène Rio, Sophie Nambot, Jean-Baptiste Rivière, Paul Kuentz, Julien Thevenon, D Gavrilov, Cyril Goizet, Ange-Line Bruel, Fanny Mochel, N Niu, Arthur L. Beaudet, Yannis Duffourd
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2017, 〈www.wiley.com/〉. 〈10.1111/cge.12985〉
www.wiley.com/
Clinical Genetics, Wiley, 2017, 92 (2), pp.188-198. ⟨10.1111/cge.12985⟩
Clinical Genetics, Wiley, 2017, 〈www.wiley.com/〉. 〈10.1111/cge.12985〉
www.wiley.com/
Clinical Genetics, Wiley, 2017, 92 (2), pp.188-198. ⟨10.1111/cge.12985⟩
Background Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan
Autor:
Julien Thevenon, Christiane Zweier, Hilde Olivié, Nicole Revencu, Aurélia Jacquette, Megan T. Cho, Anne-Laure Mosca-Boidron, Marjolein H. Willemsen, Laurence Faivre, Yannis Duffourd, Odile Boute-Benejean, Elaine H. Zackai, Carey McDougall, Amber Begtrup, Anita Rauch, Christel Thauvin-Robinet, Perrine Charles, Koen L.I. van Gassen, Thomas Smol, Laurence Duplomb-Jego, Daphné Lehalle, Amanda Clarkson, Orrin Devinsky, Catherine Vincent-Delorme, Paul Kuentz, Bénédicte Gérard, Patrick Callier, Karol Rubin, Jean-Baptiste Rivière, Sébastien Moutton, Deborah J. Shears, Ana Lisa Taylor Tavares, Ingrid Simonic, Paulien A. Terhal, Soo-Mi Park, Alice Masurel-Paulet, Golder N. Wilson
Publikováno v:
Journal of Medical Genetics, 54(7), 479. BMJ Publishing Group
Journal of Medical Genetics, 54, 479-488
Journal of Medical Genetics, 54, 7, pp. 479-488
Journal of Medical Genetics, 54, 479-488
Journal of Medical Genetics, 54, 7, pp. 479-488
Item does not contain fulltext BACKGROUND: Cohesinopathies are rare neurodevelopmental disorders arising from a dysfunction in the cohesin pathway, which enables chromosome segregation and regulates gene transcription. So far, eight genes from this p
Autor:
Florence Demurger, Christine Binquet, Muriel Holder, Frédéric Tran Mau-Them, Salima El Chehadeh, Martine Doco-Fenzy, Geneviève Baujat, Delphine Héron, Judith St-Onge, Christophe Philippe, Elodie Gautier, Robert Olaso, Rebecca A. Barnard, Paul Kuentz, François Lecoquierre, Stanislas Lyonnet, Gwenaëlle Collod-Béroud, Dominique Martin-Coignard, Isabelle Missotte, Anne Boland, Cyril Goizet, Laurence Perrin, Valérie Cormier-Daire, Sébastien Moutton, Nadine Hanna, Jean-François Deleuze, Audrey Putoux, Guillaume Jondeau, Sylvie Odent, Doris Lechner, Arnold Munnich, Thibaud Jouan, Aurélia Jacquette, Pierre-Simon Jouk, Martin Chevarin, Virginie Carmignac, Elisabetta Lapi, Alice Goldenberg, Christel Thauvin-Robinet, Sujatha Jagadeesh, P. Callier, Fatma Daoud, Yannis Duffourd, Frédéric Huet, Nathalie Marle, Charlotte Poe, Gipsy Lopez, Cyril Mignot, Florence Petit, Khadija Amarof, Brian J. O'Roak, Caroline Cabret, Fanny Morice-Picard, Jean Baptiste Rivière, Mirna Assoum, Marie Ange Delrue, Julien Thevenon, Laurence Faivre, David Geneviève, Elisabeth Sarrazin, Ange Line Bruel, Pauline Arnaud, Catherine Boileau, Christine Coubes, Didier Lacombe, Laurence Duplomb, Alice Masurel, Patrick Collignon, Antonio Vitobello, Julien Van-Gils, Bruno Leheup, Nolwenn Jean-Marçais
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Journal of Medical Genetics, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Journal of Medical Genetics, BMJ Publishing Group, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Journal of Medical Genetics, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
PurposeMarfanoid habitus (MH) combined with intellectual disability (ID) (MHID) is a clinically and genetically heterogeneous presentation. The combination of array CGH and targeted sequencing of genes responsible for Marfan or Lujan–Fryns syndrome