المؤلفون: Cecilia Pandini, Giulia Pagani, Martina Tassinari, Emanuele Vitale, Eugenia Bezzecchi, Mona Kamal Saadeldin, Valentina Doldi, Giuliana Giannuzzi, Roberto Mantovani, Matteo Chiara, Alessia Ciarrocchi, Paolo Gandellini

المصدر: Cell Death and Disease, Vol 15, Iss 3, Pp 1-14 (2024)

مصطلحات موضوعية: Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-4889

URL الوصول: https://doaj.org/article/db029eb3712e4d9b97363196451721b4

المؤلفون: Serena Redaelli, Francesca Romana Grati, Viviana Tritto, Giuliana Giannuzzi, Maria Paola Recalcati, Elena Sala, Nicoletta Villa, Francesca Crosti, Gaia Roversi, Francesca Malvestiti, Valentina Zanatta, Elena Repetti, Ornella Rodeschini, Chiara Valtorta, Ilaria Catusi, Lorenza Romitti, Emanuela Martinoli, Donatella Conconi, Leda Dalprà, Marialuisa Lavitrano, Paola Riva, Angela Bentivegna

المصدر: HGG Advances, Vol 5, Iss 2, Pp 100261- (2024)

مصطلحات موضوعية: structural chromosomal aberrations, olfactory receptor genes, chromosome 11, structural variants, cytogenetics, cytogenomics, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000933; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/38847ef173984780a4e4377e6cee1813

المؤلفون: Giuliana Giannuzzi, Nicolas Chatron, Katrin Mannik, Chiara Auwerx, Sylvain Pradervand, Gilles Willemin, Kendra Hoekzema, Xander Nuttle, Jacqueline Chrast, Marie C. Sadler, Eleonora Porcu, p11.2 Consortium, Yann Herault, Bertrand Isidor, Brigitte Gilbert-Dussardier, Evan E. Eichler, Zoltan Kutalik, Alexandre Reymond

المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/46886538723645c79e39a958f7052132

المؤلفون: Giuliana Giannuzzi, Nicolas Chatron, Katrin Mannik, Chiara Auwerx, Sylvain Pradervand, Gilles Willemin, Kendra Hoekzema, Xander Nuttle, Jacqueline Chrast, Marie C. Sadler, Eleonora Porcu, p11.2 Consortium, Yann Herault, Bertrand Isidor, Brigitte Gilbert-Dussardier, Evan E. Eichler, Zoltan Kutalik, Alexandre Reymond

المصدر: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-1 (2023)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/0e2625af34dd43c1b05de072415d6dc9

المؤلفون: Flavia Angela Maria Maggiolini, Ludovica Mercuri, Francesca Antonacci, Fabio Anaclerio, Francesco Maria Calabrese, Nicola Lorusso, Alberto L’Abbate, Melanie Sorensen, Giuliana Giannuzzi, Evan E. Eichler, Claudia Rita Catacchio, Mario Ventura

المصدر: Genes, Vol 11, Iss 2, p 213 (2020)

مصطلحات موضوعية: gene family, evolution, primates, centromeres, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/11/2/213; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/1cad101bd7d84cd9b545bcf0d974f21c

المؤلفون: Alexandre Reymond, Paolo Gasparini, Jacqueline Chrast, Hannie Kremer, Sissy Bassani, Giorgia Girotto, Jiddeke M. van de Kamp, Massimiliano Cocca, Nicolas Guex, Benjamin Delprat, Mireille Rossel, Francesca Amati, Flavio Faletra, Heiko Locher, Yoan Arribat, Sylvain Pradervand, Alban Ziegler, Jeroen Smits, Sandrine Marlin, Norine Voisin, Giuliana Giannuzzi, Tangui Maurice, Anna Morgan, Roxane Machavoine, Edward S A van Beelen, Nicolas Chatron

المساهمون: Clinical genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Gastroenterology Endocrinology Metabolism, Bassani, Sissy, van Beelen, Edward, Rossel, Mireille, Voisin, Norine, Morgan, Anna, Arribat, Yoan, Chatron, Nicola, Chrast, Jacqueline, Cocca, Massimiliano, Delprat, Benjamin, Faletra, Flavio, Giannuzzi, Giuliana, Guex, Nicola, Machavoine, Roxane, Pradervand, Sylvain, Smits, Jeroen J, van de Kamp, Jiddeke M, Ziegler, Alban, Amati, Francesca, Marlin, Sandrine, Kremer, Hannie, Locher, Heiko, Maurice, Tangui, Gasparini, Paolo, Girotto, Giorgia, Reymond, Alexandre

المصدر: Bassani, S, van Beelen, E, Rossel, M, Voisin, N, Morgan, A, Arribat, Y, Chatron, N, Chrast, J, Cocca, M, Delprat, B, Faletra, F, Giannuzzi, G, Guex, N, Machavoine, R, Pradervand, S, Smits, J J, van de Kamp, J M, Ziegler, A, Amati, F, Marlin, S, Kremer, H, Locher, H, Maurice, T, Gasparini, P, Girotto, G & Reymond, A 2021, ' Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss ', Human Molecular Genetics, vol. 30, no. 19, pp. 1785-1796 . https://doi.org/10.1093/hmg/ddab145
Human Molecular Genetics, 30(19), 1785-1796. OXFORD UNIV PRESS
Human Molecular Genetics, 30(19), 1785-1796. Oxford University Press
Human Molecular Genetics, 30, 19, pp. 1785-1796
Human Molecular Genetics, 30, 1785-1796

مصطلحات موضوعية: 0301 basic medicine, Reflex, Startle, Hydrolases, Hearing loss, Spiral limbus, ubiquitin hydrolase, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Hereditary hearing loss, USP48, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, otorhinolaryngologic diseases, Animals, Humans, Missense mutation, Inner ear, Hearing Loss, Molecular Biology, Zebrafish, Genetics (clinical), Exome sequencing, Spiral ganglion, biology, Ubiquitin, Cochlear nerve, Hereditary hearing lo, General Medicine, biology.organism_classification, 030104 developmental biology, medicine.anatomical_structure, Ubiquitin-Specific Proteases, sense organs, medicine.symptom, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f04c37bdd5fbeef500c5817cdbe20bc
https://doi.org/10.1093/hmg/ddab145

المؤلفون: Giuliana, Giannuzzi, Nicolas, Chatron, Katrin, Mannik, Chiara, Auwerx, Sylvain, Pradervand, Gilles, Willemin, Kendra, Hoekzema, Xander, Nuttle, Jacqueline, Chrast, Sadler, Marie C., Eleonora, Porcu, Katrin, Männik, Damien, Sanlaville, Caroline, Schluth-Bolard, Cédric Le Caignec, Mathilde, Nizon, Sandra, Martin, Sébastien, Jacquemont, Armand, Bottani, Marion, Gérard, Sacha, Weber, Aurélia, Jacquette, Catherine, Vincent-Delorme, Aurora, Currò, Francesca, Mari, Alessandra, Renieri, Brusco, Alfredo, Ferrero, Giovanni Battista, Yann, Herault, Bertrand, Isidor, Brigitte, Gilbert-Dussardier, Eichler, Evan E., Zoltan, Kutalik, Alexandre, Reymond

المساهمون: 16p11.2 Consortium, Männik, K., Sanlaville, D., Schluth-Bolard, C., Le Caignec, C., Nizon, M., Martin, S., Jacquemont, S., Bottani, A., Gérard, M., Weber, S., Jacquette, A., Vincent-Delorme, C., Currò, A., Mari, F., Renieri, A., Brusco, A., Ferrero, G.B.

المصدر: NPJ genomic medicine, vol. 7, no. 1, pp. 38

مصطلحات موضوعية: BOLA2, neurodevelopmental disease, Recurrent copy-number variations, CNV, 16p11.2, BOLA2, neurodevelopmental disease, neutropenia, lymphopenia, CNV, Genetics, neutropenia, lymphopenia, 16p11.2, Recurrent copy-number variations, Molecular Biology, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61d0533746a68ba9871fb470e14d550e
https://serval.unil.ch/notice/serval:BIB_99B0839DE58D

المؤلفون: Caroline Schluth-Bolard, Danny E. Miller, Marie-Noelle Bonnet-Dupeyron, Carl Baker, Alexandre Reymond, Evan E. Eichler, Damien Sanlaville, Katherine M. Munson, Nicolas Chatron, Glennis A. Logsdon, Pierre-Antoine Rollat-Farnier, Giuliana Giannuzzi, Julie Reversat, Kendra Hoekzema

مصطلحات موضوعية: Structural variation, chemistry.chemical_compound, chemistry, Chromosome 18, Evolutionary biology, Centromere, Locus (genetics), Human genome, Biology, Gene, Long terminal repeat, DNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4bdc786cb18a79ad3c5e9243759db6dd
https://doi.org/10.1101/2021.03.10.434819

المؤلفون: Rhonda E. Schnur, Fabio Sirchia, Olga Levchenko, Caroline Nava, Jane Juusola, Sarah Verheyen, Marketa Vlckova, Lindsay Rhodes, Gregory M. Cooper, Darina Prchalova, Thomas Courtin, Øystein L. Holla, David Kronn, Akemi J. Tanaka, E. Martina Bebin, Tara Funari, Miroslava Hancarova, Ennio Del Giudice, Nicolas Guex, Astrid Eisenkölbl, Dawn L. Earl, Toshiki Takenouchi, Ursula Gruber-Sedlmayr, Sedlácek Z, Sofia Douzgou, Heidelis A. Seebacher, Gerarda Cappuccio, Jasmin Blatterer, Anna Mikhaleva, Dian Donnai, Wendy K. Chung, Else Merckoll, Natasha J Brown, Elizabeth A. Sellars, Stefan Mundlos, Susan M. Hiatt, Giuliana Giannuzzi, Sinje Geuer, Giuseppina Vitiello, Séverine Lorrain, Alexandre Reymond, David J. Amor, Nicolas Chatron, Julien Delafontaine, Martine Doco, Kristian Tveten, Cecilie F. Rustad, Sylvain Pradervand, Delphine Héron, Alfredo Brusco, Elena L. Dadali, Nicola Brunetti-Pierri, Boris Keren, Yuri A. Zarate, Crystle Lee, Joel Charrow, Binnaz Yalcin, Heidi Taska-Tench, Elin Tønne, Tomoko Uehara, Alexander Lavrov, Jennifer Norman, Norine Voisin, Anna C.E. Hurst, Victoria R. Sanders, Ganka Douglas, Diana Johnson, Kenjiro Kosaki

المساهمون: Université de Lausanne = University of Lausanne (UNIL), Cooper Medical School of Rowan University [Camden] (CMSRU), Manchester University NHS Foundation Trust (MFT), University of Manchester [Manchester], HudsonAlpha Institute for Biotechnology [Huntsville, AL], Oslo University Hospital [Oslo], Victorian Clinical Genetics Services [Melbourne, VIC, Australia] (VCGS), Murdoch Children's Research Institute (MCRI), University of Melbourne, Seattle Children’s Hospital, Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme [ CHU Pitié-Salpêtrière AP-HP] (GRC : DIA), Université Pierre et Marie Curie - Paris 6 (UPMC)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Research Centre for Medical Genetics [Moscow, Russia] (RCMG), Max Planck Institute for Molecular Genetics (MPIMG), Max-Planck-Gesellschaft, Medical University of Graz, Sheffield Children's NHS Foundation Trust, University of Arkansas at Little Rock, Charles University [Prague] (CU), University Hospital Motol [Prague], University of Alabama at Birmingham [ Birmingham] (UAB), Università degli studi di Torino = University of Turin (UNITO), Azienda Ospedalerio - Universitaria Città della Salute e della Scienza di Torino = University Hospital Città della Salute e della Scienza di Torino, University of Naples Federico II = Università degli studi di Napoli Federico II, Ann & Robert H. Lurie Children's Hospital of Chicago, Swiss Institute of Bioinformatics [Lausanne] (SIB), Hémostase et Remodelage Vasculaire Post-Ischémie (HERVI - EA 3801), Université de Reims Champagne-Ardenne (URCA), GeneDx [Gaithersburg, MD, USA], Johannes Kepler University Linz [Linz] (JKU), Telemark Hospital Trust [Skien, Norway], New York Medical College (NYMC), Integris Pediatric Neurology [Oklahoma City, OK, USA] (IPN), Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo' [Trieste], Keio University School of Medicine [Tokyo, Japan], Columbia University [New York], Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Manchester Centre for Genomic Medicine [Manchester, UK] (MCGM), St Mary's Hospital Manchester-Manchester Academic Health Science Centre (MAHSC), University of Manchester [Manchester]-University of Manchester [Manchester]-Manchester University NHS Foundation Trust (MFT)-Faculty of Biology, Medicine and Health [Manchester, UK], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Dupuis, Christine, Voisin, N., Schnur, R. E., Douzgou, S., Hiatt, S. M., Rustad, C. F., Brown, N. J., Earl, D. L., Keren, B., Levchenko, O., Geuer, S., Verheyen, S., Johnson, D., Zarate, Y. A., Hancarova, M., Amor, D. J., Bebin, E. M., Blatterer, J., Brusco, A., Cappuccio, G., Charrow, J., Chatron, N., Cooper, G. M., Courtin, T., Dadali, E., Delafontaine, J., Del Giudice, E., Doco, M., Douglas, G., Eisenkolbl, A., Funari, T., Giannuzzi, G., Gruber-Sedlmayr, U., Guex, N., Heron, D., Holla, O. L., Hurst, A. C. E., Juusola, J., Kronn, D., Lavrov, A., Lee, C., Lorrain, S., Merckoll, E., Mikhaleva, A., Norman, J., Pradervand, S., Prchalova, D., Rhodes, L., Sanders, V. R., Sedlacek, Z., Seebacher, H. A., Sellars, E. A., Sirchia, F., Takenouchi, T., Tanaka, A. J., Taska-Tench, H., Tonne, E., Tveten, K., Vitiello, G., Vlckova, M., Uehara, T., Nava, C., Yalcin, B., Kosaki, K., Donnai, D., Mundlos, S., Brunetti Pierri, N., Chung, W. K., Reymond, A.

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108, pp.857-873. ⟨10.1016/j.ajhg.2021.04.001⟩
Am J Hum Genet

مصطلحات موضوعية: Male, Models, Molecular, Hypertrichosis, [SDV]Life Sciences [q-bio], Mesomelic Dysplasia, Transcriptome, Mice, Gene Frequency, Missense mutation, Child, Zebrafish, Genetics (clinical), Genetics, Brain Diseases, 0303 health sciences, biology, Protein Stability, 030305 genetics & heredity, AFF3, AFF4, horseshoe kidney, intellectual disability, mesomelic dysplasia, Nuclear Proteins, Syndrome, Phenotype, Ubiquitin ligase, [SDV] Life Sciences [q-bio], Child, Preschool, Female, Transcriptional Elongation Factors, Adolescent, Mutation, Missense, Osteochondrodysplasias, Article, Evolution, Molecular, Young Adult, 03 medical and health sciences, medicine, Animals, Humans, Amino Acid Sequence, Fused Kidney, 030304 developmental biology, Epilepsy, Infant, Horseshoe kidney, biology.organism_classification, medicine.disease, biology.protein

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bdc2a9f1f9c07fc6b814c2617df3bcc
http://hdl.handle.net/2318/1789646

المؤلفون: Marie-France Portnoï, Alexandre Reymond, Sandra Chantot-Bastaraud, Giuliana Giannuzzi, Eleonora Porcu, Yvan Herenger, Flavie Ader, Tony Yammine, Patrick Edery, Pierre-Antoine Rollat-Farnier, Flavie Diguet, Laurence Faivre, Alice Masurel-Paulet, Nathalie Marle, Kévin Uguen, Claire Bardel, Julia Lauer Zillhardt, Alistair T. Pagnamenta, Nicolas Chatron, Jenny C. Taylor, Stéphanie Valence, Andrew O.M. Wilkie, Solveig Heide, Emilie Chopin, Fabienne Prieur, Nora Chelloug, Christèle Dubourg, Marlène Rio, Eduardo Calpena, Zohra-Lydia Bellil, Arthur Sorlin, Laurence Lohmann, Sylvie Jaillard, Alexandra Afenjar, Corinne Metay, Jean-Pierre Siffroi, Damien Sanlaville, Marie-Pierre Cordier, Boris Keren, Françoise Girard, Caroline Schluth-Bolard, Joris Andrieux, Samantha J. L. Knight, Reza Maroofian, James Lespinasse, Michèle Mathieu-Dramard, Patrick Callier

مصطلحات موضوعية: chemistry.chemical_compound, Chromothripsis, chemistry, Evolutionary biology, Premature chromosome condensation, Breakpoint, Chromosomal rearrangement, Biology, Gene, DNA, Sequence (medicine), Chromatin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fbb06baaefddfcce5f3b63fb41a59581
https://doi.org/10.1101/2020.07.17.206771