Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Jean-Hubert Caberg"'
Autor:
Adrian F. Daly, Leslie A. Dunnington, David F. Rodriguez-Buritica, Erica Spiegel, Francesco Brancati, Giovanna Mantovani, Vandana M. Rawal, Fabio Rueda Faucz, Hadia Hijazi, Jean-Hubert Caberg, Anna Maria Nardone, Mario Bengala, Paola Fortugno, Giulia Del Sindaco, Marta Ragonese, Helen Gould, Salvatore Cannavò, Patrick Pétrossians, Andrea Lania, James R. Lupski, Albert Beckers, Constantine A. Stratakis, Brynn Levy, Giampaolo Trivellin, Martin Franke
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-11 (2024)
Abstract Background X-linked acrogigantism (X-LAG; MIM: 300942) is a severe form of pituitary gigantism caused by chromosome Xq26.3 duplications involving GPR101. X-LAG-associated duplications disrupt the integrity of the topologically associating do
Externí odkaz:
https://doaj.org/article/3554c83b75ce4cf485ca6c1f7161c979
Autor:
François Boemer, Jean-Hubert Caberg, Pablo Beckers, Vinciane Dideberg, Samantha di Fiore, Vincent Bours, Sandrine Marie, Joseph Dewulf, Lionel Marcelis, Nicolas Deconinck, Aurore Daron, Laura Blasco-Perez, Eduardo Tizzano, Mickaël Hiligsmann, Jacques Lombet, Tatiana Pereira, Lucia Lopez-Granados, Sarvnaz Shalchian-Tehran, Véronique van Assche, Arabelle Willems, Sofie Huybrechts, Bénédicte Mast, Rudolf van Olden, Tamara Dangouloff, Laurent Servais
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Abstract Three new therapies for spinal muscular atrophy (SMA) have been approved by the United States Food and Drug Administration and the European Medicines Agency since 2016. Although these new therapies improve the quality of life of patients who
Externí odkaz:
https://doaj.org/article/aee7b58b35494c7a81456a3ae885e5c8
Autor:
Pablo Beckers, Jean-Hubert Caberg, Vinciane Dideberg, Tamara Dangouloff, Johan T. den Dunnen, Vincent Bours, Laurent Servais, François Boemer
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Duchenne Muscular Dystrophy (DMD) is a lethal progressive muscle-wasting disease. New treatment strategies relying on DMD gene exon-skipping therapy have recently been approved and about 30% of patients could be amenable to exon 51, 53 or 45
Externí odkaz:
https://doaj.org/article/27dddf18d89948a6a54653f693dce78e
Autor:
François Boemer, Claire Josse, Géraldine Luis, Emmanuel Di Valentin, Jérôme Thiry, Christophe Cello, Jean-Hubert Caberg, Caroline Dadoumont, Julie Harvengt, Aimé Lumaka, Vincent Bours, François-Guillaume Debray
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 4, p 2253 (2022)
Branched-chain amino acids (BCAA) are essential amino acids playing crucial roles in protein synthesis and brain neurotransmission. Branched-chain ketoacid dehydrogenase (BCKDH), the flux-generating step of BCAA catabolism, is tightly regulated by re
Externí odkaz:
https://doaj.org/article/31a9bf404eb54c159a3aaac7eda598db
Autor:
Raissa Teteli, Annette Uwineza, Yvan Butera, Janvier Hitayezu, Seraphine Murorunkwere, Lamberte Umurerwa, Janvier Ndinkabandi, Anne-Cécile Hellin, Mauricette Jamar, Jean-Hubert Caberg, Narcisse Muganga, Joseph Mucumbitsi, Emmanuel Kamanzi Rusingiza, Leon Mutesa
Publikováno v:
The Pan African Medical Journal, Vol 19, Iss 85 (2014)
INTRODUCTION: Congenital heart diseases (CHD) are commonly associated with genetic defects. Our study aimed at determining the occurrence and pattern of CHD association with genetic defects among pediatric patients in Rwanda. METHODS: A total of 125
Externí odkaz:
https://doaj.org/article/dd594be7178840dbae46dba6df594d82
Autor:
Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee, Laura Rohan, Emily Huber, Laila El Khattabi, Paolo Prontera, Jean-Hubert Caberg, Anke Van Dijck, Charles Schwartz, Laurence Faivre, Patrick Callier, Anne-Laure Mosca-Boidron, Mathilde Lefebvre, Kate Pope, Penny Snell, Paul J. Lockhart, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Giuseppa Maria Luana Mandara, Maria Grazia Bruccheri, Olivier Pichon, Cedric Le Caignec, Radka Stoeva, Silvestre Cuinat, Sandra Mercier, Claire Beneteau, Sophie Blesson, Ashley Nordsletten, Dominique Martin-Coignard, Erik Sistermans, R. Frank Kooy, David J. Amor, Corrado Romano, Bertrand Isidor, Jane Juusola, Santhosh Girirajan
Publikováno v:
medRxiv
We examined more than 38,000 spouse pairs from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic and genetic patterns in parents associated with neurodevelopmental disease risk in children. We identified correlations b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16abc621e8896a2a8b4693832e9d8dc5
https://europepmc.org/articles/PMC10246151/
https://europepmc.org/articles/PMC10246151/
Autor:
Guillaume Jouret, Solveig Heide, Arthur Sorlin, Laurence Faivre, Sandra Chantot‐Bastaraud, Claire Beneteau, Marie Denis‐Musquer, Peter D. Turnpenny, Charles Coutton, Gaëlle Vieville, Julien Thevenon, Austin Larson, Florence Petit, Elise Boudry, Thomas Smol, Bruno Delobel, Bénédicte Duban‐Bedu, Chiara Fallerini, Francesca Mari, Caterina Lo Rizzo, Alessandra Renieri, Jean‐Hubert Caberg, Anne‐Sophie Denommé‐Pichon, Frédéric Tran Mau‐Them, Isabelle Maystadt, Thomas Courtin, Boris Keren, Linda Mouthon, Perrine Charles, Silvestre Cuinat, Bertrand Isidor, Philippe Theis, Christian Müller, Marizela Kulisic, Seval Türkmen, Daniel Stieber, Dominique Bourgeois, Emmanuel Scalais, Barbara Klink
Publikováno v:
Clinical Genetics
Clinical Genetics, 2022, 102 (2), pp.117-122. ⟨10.1111/cge.14141⟩
Clinical Genetics, 2022, 102 (2), pp.117-122. ⟨10.1111/cge.14141⟩
International audience; BRD4 is part of a multiprotein complex involved in loading the cohesin complex onto DNA, a fundamental process required for cohesin-mediated loop extrusion and formation of Topologically Associating Domains. Pathogenic variati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef656e7edd72467b3c068c87f79974e9
https://pubmed.ncbi.nlm.nih.gov/35470444
https://pubmed.ncbi.nlm.nih.gov/35470444
Autor:
Jacques Lombet, Joseph Dewulf, Arabelle Willems, Laura Blasco-Pérez, Mickaël Hiligsmann, Bénédicte Mast, Rudolf van Olden, Samantha di Fiore, Sofie Huybrechts, Lucia Lopez-Granados, Jean-Hubert Caberg, Tatiana Aparecida Pereira, Nicolas Deconinck, Tamara Dangouloff, Sarvnaz Shalchian-Tehran, Vincent Bours, Sandrine Marie, Véronique van Assche, Eduardo F. Tizzano, François Boemer, Vinciane Dideberg, Laurent Servais, Pablo Beckers, A. Daron, Lionel Marcelis
Publikováno v:
Scientific Reports, 11(1):19922. Nature Publishing Group
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Scientific reports, 11 (1
Scientia
Scientific Reports
Scientific reports, Vol. 11, no.1, p. 19922 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Scientific reports, 11 (1
Scientia
Scientific Reports
Scientific reports, Vol. 11, no.1, p. 19922 (2021)
Three new therapies for spinal muscular atrophy (SMA) have been approved by the United States Food and Drug Administration and the European Medicines Agency since 2016. Although these new therapies improve the quality of life of patients who are symp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38d07d46f04cc1b6dd536260a4b351ba
https://cris.maastrichtuniversity.nl/en/publications/fac4ef37-2abb-4f2e-8fae-95295fa09308
https://cris.maastrichtuniversity.nl/en/publications/fac4ef37-2abb-4f2e-8fae-95295fa09308
Autor:
Mickaël Hiligsmann, Tamara Dangouloff, Vinciane Dideberg, Vincent Bours, Laurent Servais, François Boemer, Jean-Hubert Caberg, Domien Dardenne
Publikováno v:
Neuromuscular Disorders, 29(5), 343-349. Elsevier Science
Approval was recently granted for a new treatment for spinal muscular atrophy (SMA). Given that the treatment is effective when administered early and the societal burden of SMA-related disability, the implementation of a newborn screening program is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16d80f1fed4e9132fa852cd1e5a1624c
https://doi.org/10.1016/j.nmd.2019.02.003
https://doi.org/10.1016/j.nmd.2019.02.003
Autor:
Ji-eun Yoon, Arjun Krishnan, Marie Vincent, Marco Fichera, Claire Beneteau, Erik A. Sistermans, Nathalie Marle, Luana Mandarà, Sau Wai Cheung, R. Frank Kooy, Teresa Mattina, Rachel L. Kember, Mathilde Nizon, Jill A. Rosenfeld, Alexandre Reymond, Bertrand Isidor, Sophie Blesson, Jean-Hubert Caberg, Cindy Skinner, Emanuela Avola, Charles Perrine, Paolo Prontera, Susan Zeesman, Małgorzata J.M. Nowaczyk, Kate Pope, Lucilla Pizzo, David J. Amor, Boris Keren, Matthew Jensen, Katrin Männik, Patrick Callier, Pawel Stankiewicz, Damian Pazuchanics, Els Voorhoeve, Ornella Galesi, Joris Andrieux, Lucia Castiglia, Anne Laure Mosca-Boidron, Mathilde Lefebvre, Charles E. Schwartz, Santhosh Girirajan, Elizabeth McCready, Anke Van Dijck, Sandra Mercier, Maja Bucan, Corrado Romano, Laurence Faivre, Francesca Mari, Dominique Martin-Coignard, Vijay Kumar, Alessandra Renieri, Andrew Polyak, Emily Huber, Cédric Le Caignec, Aurora Currò, Olivier Pichon
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0266-3⟩
Genetics in Medicine, 21(4), 816-825. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, vol. 21, no. 4, pp. 816-825
Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, J A, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, S W, Pazuchanics, D, Huber, E, Kumar, V, Kember, R L, Mari, F, Curró, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandarà, L, Vincent, M, Nizon, M, Mercier, S, Bénéteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A L, Caberg, J H, Bucan, M, Zeesman, S, Nowaczyk, M J M, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, R F, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, D J, Andrieux, J & Girirajan, S 2019, ' Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants ', Genetics in Medicine, vol. 21, no. 4, pp. 816-825 . https://doi.org/10.1038/s41436-018-0266-3
Genetics in medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0266-3⟩
Genetics in Medicine, 21(4), 816-825. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, vol. 21, no. 4, pp. 816-825
Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, J A, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, S W, Pazuchanics, D, Huber, E, Kumar, V, Kember, R L, Mari, F, Curró, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandarà, L, Vincent, M, Nizon, M, Mercier, S, Bénéteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A L, Caberg, J H, Bucan, M, Zeesman, S, Nowaczyk, M J M, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, R F, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, D J, Andrieux, J & Girirajan, S 2019, ' Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants ', Genetics in Medicine, vol. 21, no. 4, pp. 816-825 . https://doi.org/10.1038/s41436-018-0266-3
Genetics in medicine
Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative cl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbf6c41b5e591ac3592571ea1af83d4b
http://www.scopus.com/inward/record.url?scp=85053071043&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85053071043&partnerID=8YFLogxK