Zobrazeno 1 - 10
of 679
pro vyhledávání: '"Pernet, K."'
Autor:
Qebibo L; Pediatric Neurogenetics Laboratory, Department of Genetics, Armand-Trousseau Hospital, APHP. Sorbonne Université, Paris, France; Reference Center for Cerebellar Malformations and Congenital Diseases, Armand-Trousseau Hospital, APHP. Sorbonne Université, Paris, France; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders, Laboratory, 75015, Paris, France., Davakan A; IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France., Nesson-Dauphin M; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders, Laboratory, 75015, Paris, France., Boulali N; IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France., Siquier-Pernet K; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders, Laboratory, 75015, Paris, France., Afenjar A; Reference Center for Cerebellar Malformations and Congenital Diseases, Armand-Trousseau Hospital, APHP. Sorbonne Université, Paris, France., Amiel J; Service de Médecine Génomique des Maladies Rares, Necker Enfants Malades University Hospital, APHP, Paris, France., Bartholdi D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Switzerland., Barth M; Department of Biochemistry and Genetics, Angers University Hospital, Angers, France., Blondiaux E; Department of Radiology, Armand-Trousseau Hospital, APHP, Sorbonne University, Paris, France., Cristian I; Arnold Palmer Hospital for Children, Orlando Health, Florida, USA., Frazier Z; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, USA., Goldenberg A; Université Rouen Normandie, INSERM U1245, CHU de Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France., Good JM; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland., Salussolia CL; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, USA., Sahin M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, USA., McCullagh H; Leeds Teaching Hospitals NHS Trust, Leeds, UK., McDonald K; Department of Pediatrics, University of Louisville, Norton Children's Hospital, Louisville, USA., McRae A; Ann & Robert H. Lurie Children's Hospital of Chicago, USA., Morrison J; Arnold Palmer Hospital for Children, Orlando Health, Florida, USA., Pinner J; Centre for Clinical Genetics, Sydney Children's Hospitals Network and University of New South Wales, Sydney, Australia., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, USA., Toutain A; Unité fonctionnelle de Génétique Médicale, Centre Hospitalier Universitaire, 37044, Tours, France., Vyhnálková E; Charles University, Motol University Hospital, Prague, Czech Republic., Wheeler PG; Arnold Palmer Hospital for Children, Orlando Health, Florida, USA., Wilnai Y; Tel Aviv Sourasky Medical Center, Genetic Institute, Tel Aviv, Israel., Hausman-Kedem M; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Medical Center and Faculty of Medical and Health Science, Tel-Aviv University, Tel-Aviv, Israel., Coolen M; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders, Laboratory, 75015, Paris, France., Cantagrel V; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders, Laboratory, 75015, Paris, France. Electronic address: vincent.cantagrel@inserm.fr., Burglen L; Pediatric Neurogenetics Laboratory, Department of Genetics, Armand-Trousseau Hospital, APHP. Sorbonne Université, Paris, France; Reference Center for Cerebellar Malformations and Congenital Diseases, Armand-Trousseau Hospital, APHP. Sorbonne Université, Paris, France; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders, Laboratory, 75015, Paris, France. Electronic address: lydie.burglen@aphp.fr., Lory P; IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France. Electronic address: philippe.lory@igf.cnrs.fr.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Dec 12, pp. 101337. Date of Electronic Publication: 2024 Dec 12.
Autor:
Crespin M; AP-HP, Necker Enfants-Malades Hospital, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, 75015 Paris, France., Siquier-Pernet K; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders Laboratory, 75015 Paris, France., Marzin P; AP-HP, Necker Enfants-Malades Hospital, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, 75015 Paris, France., Bole-Feysot C; Université Paris Cité, Genomics Platform, Imagine Institute, INSERM UMR 1163, 75015 Paris, France., Malan V; AP-HP, Necker Enfants-Malades Hospital, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, 75015 Paris, France; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders Laboratory, 75015 Paris, France., Nitschké P; Université Paris Cité, Bioinformatics Core Facility, Imagine Institute, INSERM UMR 1163, 75015 Paris, France., Hully M; Département de Neurologie Pédiatrique, Necker Enfants-Malades Hospital, APHP Centre, Université Paris Cité, 75015 Paris, France; AP-HP, Necker Enfant Malade Hospital, Unité de Médecine Physique et de Réadaptation, 75015 Paris, France., Roux CJ; Département de Radiologie Pédiatrique, INSERM UMR 1163 and INSERM U1299, Institut Imagine, AP-HP, Necker Enfant Malade Hospital, 75015 Paris, France., Lemoine M; AP-HP, Necker Enfant Malade Hospital, Unité de Médecine Physique et de Réadaptation, 75015 Paris, France., Rio M; AP-HP, Necker Enfants-Malades Hospital, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, 75015 Paris, France., Boddaert N; Département de Radiologie Pédiatrique, INSERM UMR 1163 and INSERM U1299, Institut Imagine, AP-HP, Necker Enfant Malade Hospital, 75015 Paris, France., Courtin T; AP-HP, Necker Enfants-Malades Hospital, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, 75015 Paris, France; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders Laboratory, 75015 Paris, France., Cantagrel V; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders Laboratory, 75015 Paris, France. Electronic address: vincent.cantagrel@inserm.fr.
Publikováno v:
HGG advances [HGG Adv] 2024 Oct 16; Vol. 6 (1), pp. 100372. Date of Electronic Publication: 2024 Oct 16.
Akademický článek
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Publikováno v:
In Motricite cerebrale June 2015 36(2):66-71
Autor:
Nicolle R; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France.; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, 75015, France., Altin N; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France., Siquier-Pernet K; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France., Salignac S; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France., Blanc P; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France.; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, AP-HP, Necker Hospital for Sick Children, Paris, 75015, France., Munnich A; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, AP-HP, Necker Hospital for Sick Children, Paris, 75015, France., Bole-Feysot C; Genomics Platform, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, 75015, France., Malan V; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France.; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, AP-HP, Necker Hospital for Sick Children, Paris, 75015, France., Caron B; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, 75015, France., Nitschké P; Bioinformatics Core Facility, Université Paris Cité, INSERM UMR 1163, Imagine Institute, 75015, Paris, France., Desguerre I; Département de Neurologie Pédiatrique, AP-HP, Necker Hospital for Sick Children, 75015, Paris, France., Boddaert N; Département de Radiologie Pédiatrique, AP-HP, Necker Hospital for Sick Children and Université Paris Cité, INSERM UMR 1163 and INSERM U1299, Imagine Institute, Paris, 75015, France., Rio M; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France.; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, AP-HP, Necker Hospital for Sick Children, Paris, 75015, France., Rausell A; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, 75015, France.; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, AP-HP, Necker Hospital for Sick Children, Paris, 75015, France., Cantagrel V; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France. vincent.cantagrel@inserm.fr.
Publikováno v:
BMC medical genomics [BMC Med Genomics] 2023 Jun 21; Vol. 16 (1), pp. 143. Date of Electronic Publication: 2023 Jun 21.
Autor:
Nichita D; Revalidatieziekenhuis Inkendaal, Sint-Pieters-Leeuw, Belgium., Pernet K; Revalidatieziekenhuis Inkendaal, Sint-Pieters-Leeuw, Belgium.
Publikováno v:
Developmental medicine and child neurology [Dev Med Child Neurol] 2023 May; Vol. 65 (5), pp. 595. Date of Electronic Publication: 2023 Mar 08.
Autor:
Efthymiou, S., Salpietro, V., Malintan, N., Poncelet, M., Kriouile, Y., Fortuna, S., Zorzi, R. de, Payne, K., Henderson, L.B., Cortese, A., Maddirevula, S., Alhashmi, N., Wiethoff, S., Ryten, M., Botia, J.A., Provitera, V., Schuelke, M., Vandrovcova, J., Groppa, S., Karashova, B.M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Goraya, J.S., Sultan, T., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M.D., Maagdenberg, A.M.J.M. van den, Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A.M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B.M., Boles, R., Papacostas, S., Vikelis, M., Rothman, J., Kullmann, D., Papanicolaou, E.Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N.N., Atawneh, O., Lim, S.Y., Shaikh, F., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y.A., Minetti, C., Al-Khawaja, I., Al-Mutairi, F., Hamed, S., Pipis, M., Bettencourt, C., Rinaldi, S., Walsh, L., Torti, E., Iodice, V., Najafi, M., Karimiani, E.G., Maroofian, R., Siquier-Pernet, K., Boddaert, N., Lonlay, P. de, Cantagrel, V., Aguennouz, M., Khorassani, M. el, Schmidts, M., Alkuraya, F.S., Edvardson, S., Nolano, M., Devaux, J., Houlden, H., SYNAPS Study Grp
Publikováno v:
Brain
Brain, 142, 2948-2964. OXFORD UNIV PRESS
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2019, 142 (10), pp.2948-2964. ⟨10.1093/brain/awz248⟩
Web of Science
Brain, 142, 2948-2964. OXFORD UNIV PRESS
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2019, 142 (10), pp.2948-2964. ⟨10.1093/brain/awz248⟩
Web of Science
See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c7c064194867fb9fae777523d58b32c6
http://hdl.handle.net/11570/3144286
http://hdl.handle.net/11570/3144286
Autor:
Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Burgemeister AL; Genetikum, Genetic Counseling and Diagnostics, 70173 Stuttgart, Germany., Cantagrel V; Developmental Brain Disorders Laboratory, Université Paris Cité, Imagine Institute, INSERM UMR, 75015 Paris, France., Amiel J; Department of Genetics, AP-HP, Necker Enfants Malades Hospital, Université Paris Cité, Imagine Institute, 75015 Paris, France., Siquier-Pernet K; Developmental Brain Disorders Laboratory, Université Paris Cité, Imagine Institute, INSERM UMR, 75015 Paris, France., Boddaert N; Département de radiologie pédiatrique, INSERM UMR 1163 and INSERM U1000, AP-HP, Necker Enfants Malades Hospital, 75015 Paris, France., Hertecant J; Division of Genetics and Metabolics, Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates., Kannouche PL; CNRS UMR 9019, Université Paris-Saclay, Equipe labellisée Ligue contre le Cancer, Gustave Roussy, 94805 Villejuif, France., Pouvelle C; CNRS UMR 9019, Université Paris-Saclay, Equipe labellisée Ligue contre le Cancer, Gustave Roussy, 94805 Villejuif, France., Htun S; Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143, USA., Slavotinek AM; Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143, USA., Beetz C; Centogene GmbH, 18055 Rostock, Germany., Diego-Alvarez D; Centogene GmbH, 18055 Rostock, Germany., Kampe K; Centogene GmbH, 18055 Rostock, Germany., Fleischer N; FDNA Inc., Boston, MA 02111, USA., Awamleh Z; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada., Weksberg R; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.; Department of Molecular Genetics, Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A1, Canada., Kopajtich R; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Suleiman J; Division of Neurology, Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates.; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., El-Hattab AW; Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.; Pediatrics Department, University Hospital Sharjah, Sharjah, United Arab Emirates.; Genetics and Metabolic Department, KidsHeart Medical Center, Abu Dhabi, United Arab Emirates.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2022 Sep 10; Vol. 31 (18), pp. 3083-3094.
Publikováno v:
In Diabetes and Metabolism 2003 29(2):111-117
Autor:
Nicolle R; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France.; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Siquier-Pernet K; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Rio M; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France.; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Guimier A; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France., Ollivier E; Université de Paris, Bioinformatics Core Facility, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Nitschke P; Université de Paris, Bioinformatics Core Facility, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Bole-Feysot C; Université de Paris, Genomics Platform, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Romana S; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France.; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Hastie A; Bionano Genomics, San Diego, CA, USA., Cantagrel V; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Malan V; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France. valerie.malan@aphp.fr.; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France. valerie.malan@aphp.fr.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Jun; Vol. 30 (6), pp. 712-720. Date of Electronic Publication: 2022 Apr 07.