Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

Συγγραφείς: Kreienkamp, Hans-Jürgen, Wagner, Matias, Weigand, Heike, Mcconkie-Rossell, Allyn, Mcdonald, Marie, Keren, Boris, Mignot, Cyril, Gauthier, Julie, Soucy, Jean-François, Michaud, Jacques, Dumas, Meghan, Smith, Rosemarie, Löbel, Ulrike, Hempel, Maja, Kubisch, Christian, Denecke, Jonas, Campeau, Philippe, Bain, Jennifer, Lessel, Davor

Συνεισφορές: Sorbonne Université, Gestionnaire HAL 9 - Cécile

Πηγή: Hum Genet

Θεματικοί όροι: Male, 0301 basic medicine, Adolescent, Mutation, Missense, Original Investigation, Human Genetics, Molecular Medicine, Gene Function, Metabolic Diseases, 03 medical and health sciences, Intellectual Disability, Diseases in Twins, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Child, Frameshift Mutation, Genetic Association Studies, Chromosomes, Human, X, 0303 health sciences, Heterogeneous-Nuclear Ribonucleoprotein Group F-H, Brain, Genetic Variation, ddc, Alternative Splicing, Amino Acid Substitution, Codon, Nonsense, Neurodevelopmental Disorders, Child, Preschool, Mutation, Female, Heterogeneous-Nuclear Ribonucleoprotein Group F-H/genetics [MeSH], Diseases in Twins/diagnostic imaging [MeSH], Frameshift Mutation [MeSH], Genetic Association Studies [MeSH], Codon, Nonsense [MeSH], Diseases in Twins/genetics [MeSH], Mutation, Missense [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Alternative Splicing/genetics [MeSH], Male [MeSH], Neurodevelopmental Disorders/diagnostic imaging [MeSH], Twins, Monozygotic [MeSH], Phenotype [MeSH], RNA-Seq [MeSH], Child [MeSH], Chromosomes, Human, X/genetics [MeSH], Genetic Variation [MeSH], Adolescent [MeSH], Female [MeSH], Mutation [MeSH], Brain/diagnostic imaging [MeSH], Intellectual Disability/diagnostic imaging [MeSH], Amino Acid Substitution [MeSH], Humans [MeSH], Intellectual Disability/genetics [MeSH], Young Adult [MeSH], Child, Preschool [MeSH]

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://link.springer.com/content/pdf/10.1007/s00439-021-02412-x.pdf
https://pubmed.ncbi.nlm.nih.gov/34907471
https://repository.publisso.de/resource/frl:6446824
https://mediatum.ub.tum.de/1705041

Best Practices in Structural Neuroimaging of Neurodevelopmental Disorders

Συγγραφείς: Lea L. Backhausen, Megan M. Herting, Christian K. Tamnes, Nora C. Vetter

Πηγή: Neuropsychol Rev

Θεματικοί όροι: 0301 basic medicine, Adolescent, Brain, Neuroimaging, Review, 16. Peace & justice, Magnetic Resonance Imaging, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental Disorders, Adolescent [MeSH], Brain/diagnostic imaging [MeSH], FreeSurfer, Neurodevelopmental disorders, Humans [MeSH], Structural MRI, Quality control, Neuroimaging/methods [MeSH], Neurodevelopmental Disorders/diagnostic imaging [MeSH], Children, Magnetic Resonance Imaging/methods [MeSH], Study design, Humans

Σύνδεσμος πρόσβασης: https://link.springer.com/content/pdf/10.1007/s11065-021-09496-2.pdf
https://pubmed.ncbi.nlm.nih.gov/33893904
https://link.springer.com/content/pdf/10.1007/s11065-021-09496-2.pdf
https://link.springer.com/article/10.1007/s11065-021-09496-2
https://pubmed.ncbi.nlm.nih.gov/33893904/
http://hdl.handle.net/10852/93570
https://doi.org/10.1007/s11065-021-09496-2
https://repository.publisso.de/resource/frl:6445956

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

Συγγραφείς: Vera, G., Sorlin, A., Delplancq, G., Lecoquierre, F., Brasseur-Daudruy, M., Petit, F., Smol, T., Ziegler, A., Bonneau, D., Colin, E., Mercier, S., Cogné, B., Bézieau, S., Edery, P., Lesca, G., Chatron, N., Sabatier, I., Duban-Bedu, B., Colson, C., Piton, A., Durand, B., Capri, Y., Perrin, L., Wiesener, A., Zweier, C., Maroofian, R., Carroll, C.J., Galehdari, H., Mazaheri, N., Callewaert, B., Giulianno, F., Zaafrane-Khachnaoui, K., Buchert-Lo, R., Haack, T., Magg, J., Rieß, A., Blandfort, M., Waldmüller, S., Horber, V., Leonardi, E., Polli, R., Turolla, L., Murgia, A., Frebourg, T., Lebre, A.S., Nicolas, G., Saugier-Veber, P., Guerrot, A.M.

Θεματικοί όροι: Adolescent, Adult, Brain/diagnostic imaging, Brain/pathology, Child, Preschool, Face/pathology, Female, GATA Transcription Factors/genetics, High-Throughput Nucleotide Sequencing, Humans, Infant, Intellectual Disability/diagnosis, Intellectual Disability/diagnostic imaging, Intellectual Disability/genetics, Magnetic Resonance Imaging, Male, Megalencephaly/diagnostic imaging, Megalencephaly/genetics, Muscle Hypotonia/genetics, Neurodevelopmental Disorders/diagnosis, Neurodevelopmental Disorders/diagnostic imaging, Neurodevelopmental Disorders/genetics, Neurodevelopmental Disorders/physiopathology, Phenotype, Pregnancy, Repressor Proteins, Sequence Deletion, Speech Disorders/genetics, Developmental delay

Relation: European Journal of Medical Genetics; https://iris.unil.ch/handle/iris/63183; serval:BIB_0C00C80EBBDF; 000573094100002

Διαθεσιμότητα: https://iris.unil.ch/handle/iris/63183
https://doi.org/10.1016/j.ejmg.2020.104004

Ketamine Restores Thalamic-Prefrontal Cortex Functional Connectivity in a Mouse Model of Neurodevelopmental Disorder-Associated 2p16.3 Deletion

Συγγραφείς: Hughes, Rebecca, Whittingham-Dowd, Jayde, Simmons, Rachel, Clapcote, Stephen, Broughton, Susan, Dawson, Neil

Πηγή: Cereb Cortex
B Hughes, R, Whittingham-Dowd, J, Simmons, R E, Clapcote, S J, Broughton, S J & Dawson, N 2020, 'Ketamine Restores Thalamic-Prefrontal Cortex Functional Connectivity in a Mouse Model of Neurodevelopmental Disorder-Associated 2p16.3 Deletion', Cerebral cortex (New York, N.Y. : 1991), vol. 30, no. 4, pp. 2358-2371. https://doi.org/10.1093/cercor/bhz244

Θεματικοί όροι: Male, 0301 basic medicine, Neural Cell Adhesion Molecules/genetics, Neurodevelopmental Disorders/diagnostic imaging, Prefrontal Cortex, Mice, Transgenic, Mice, 03 medical and health sciences, 0302 clinical medicine, Thalamus, Prefrontal Cortex/diagnostic imaging, Animals, Neural Cell Adhesion Molecules, Mice, Knockout, Calcium-Binding Proteins/genetics, Calcium-Binding Proteins, Original Articles, Nerve Net/diagnostic imaging, 3. Good health, Mice, Inbred C57BL, Disease Models, Animal, Neurodevelopmental Disorders, Thalamus/diagnostic imaging, Ketamine, Nerve Net, Ketamine/administration & dosage, Gene Deletion, Injections, Intraperitoneal

Περιγραφή αρχείου: text

Σύνδεσμος πρόσβασης: https://academic.oup.com/cercor/article-pdf/30/4/2358/33112096/bhz244.pdf
https://pubmed.ncbi.nlm.nih.gov/31812984
https://eprints.lancs.ac.uk/id/eprint/139509/
https://pubmed.ncbi.nlm.nih.gov/31812984/
https://europepmc.org/article/MED/31812984
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7175007
https://academic.oup.com/cercor/article/30/4/2358/5669891
https://eprints.lancs.ac.uk/id/eprint/139509/

Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.

Συγγραφείς: Sønderby, Ida E, Ching, Christopher R K, Ayesa-Arriola, Rosa, Thompson, Paul M, Bearden, Carrie E, Andreassen, Ole A, Group, ENIGMA-CNV Working, 2 Deletion Syndrome Working Group, ENIGMA 22q11., Bernard, Manon, Blackburn, Nicholas B, Bøen, Rune, de Geus, Eco, de Zwarte, Sonja M C, Bakker, Geor, Forti, Marta Di, Frei, Oleksandr, Fukunaga, Masaki, Hehir-Kwa, Jayne Y, Hillegers, Manon H J, Hoffmann, Per, Homuth, Georg, Jahanshad, Neda, Koops, Sanne, Kumar, Kuldeep, Bassett, Anne S, Kikuchi, Masataka, Le Hellard, Stephanie, Leu, Costin, Murray, Robin M, Naerland, Terje, Nyberg, Lars, Ophoff, Roel A, Pike, G Bruce, Sando, Sigrid B, Shin, Jean, Boomsma, Dorret I, Shumskaya, Elena, Sisodiya, Sanjay M, Steen, Vidar M, Teumer, Alexander, Uhlmann, Anne, Wright, Margaret J, Antshel, Kevin M, Campbell, Linda E, Crossley, Nicolas A, Crowley, T Blaine, Bülow, Robin, Daly, Eileen, Fiksinski, Ania M, Forsyth, Jennifer K, Fremont, Wanda, Goodrich-Hunsaker, Naomi J, Gudbrandsen, Maria, Jonas, Rachel K, Kates, Wendy R, Lin, Amy, McCabe, Kathryn L, Butcher, Nancy J, Moss, Hayley, Murphy, Declan G, Murphy, Kieran C, Owen, Michael J, Ruparel, Kosha, Simon, Tony J, van Amelsvoort, Therese, Vorstman, Jacob A S, Calhoun, Vince D, Caspers, Svenja, Chow, Eva W C, Cichon, Sven, Thomopoulos, Sophia I, Ciufolini, Simone, Craig, Michael C, Crespo-Facorro, Benedicto, Cunningham, Adam C, Dale, Anders M, Dazzan, Paola, de Zubicaray, Greig I, Djurovic, Srdjan, Doherty, Joanne L, Donohoe, Gary, van der Meer, Dennis, Draganski, Bogdan, Durdle, Courtney A, Ehrlich, Stefan, Emanuel, Beverly S, Espeseth, Thomas, Fisher, Simon E, Ge, Tian, Glahn, David C, Grabe, Hans J, Gur, Raquel E, Sun, Daqiang, Gutman, Boris A, Haavik, Jan, Håberg, Asta K, Hansen, Laura A, Hashimoto, Ryota, Hibar, Derrek P, Holmes, Avram J, Hottenga, Jouke-Jan, Hulshoff Pol, Hilleke E, Jalbrzikowski, Maria, Villalon-Reina, Julio E, Knowles, Emma E M, Kushan, Leila, Linden, David E J, Liu, Jingyu, Lundervold, Astri J, Martin-Brevet, Sandra, Martínez, Kenia, Mather, Karen A, Mathias, Samuel R, McDonald-McGinn, Donna M, Agartz, Ingrid, McRae, Allan F, Medland, Sarah E, Moberget, Torgeir, Modenato, Claudia, Monereo Sánchez, Jennifer, Moreau, Clara A, Mühleisen, Thomas W, Paus, Tomas, Pausova, Zdenka, Prieto, Carlos, Amunts, Katrin, Ragothaman, Anjanibhargavi, Reinbold, Céline S, Reis Marques, Tiago, Repetto, Gabriela M, Reymond, Alexandre, Roalf, David R, Rodriguez-Herreros, Borja, Rucker, James J, Sachdev, Perminder S, Schmitt, James E, Arango, Celso, Schofield, Peter R, Silva, Ana I, Stefansson, Hreinn, Stein, Dan J, Tamnes, Christian K, Tordesillas-Gutiérrez, Diana, Ulfarsson, Magnus O, Vajdi, Ariana, van 't Ent, Dennis, van den Bree, Marianne B M, Armstrong, Nicola J, Vassos, Evangelos, Vázquez-Bourgon, Javier, Vila-Rodriguez, Fidel, Walters, G Bragi, Wen, Wei, Westlye, Lars T, Wittfeld, Katharina, Zackai, Elaine H, Stefánsson, Kári, Jacquemont, Sebastien

Πηγή: Human brain mapping 43(1), 300-328 (2022). doi:10.1002/hbm.25354

Θεματικοί όροι: info:eu-repo/classification/ddc/610, Brain: diagnostic imaging, Brain: growth & development, Brain: pathology, DNA Copy Number Variations, Humans, Magnetic Resonance Imaging, Mental Disorders: diagnostic imaging, Mental Disorders: genetics, Mental Disorders: pathology, Multicenter Studies as Topic, Neurodevelopmental Disorders: diagnostic imaging, Neurodevelopmental Disorders: genetics, Neurodevelopmental Disorders: pathology, Neuroimaging, brain structural imaging, copy number variant, diffusion tensor imaging, evolution, genetics-first approach, neurodevelopmental disorders, psychiatric disorders

Θέμα γεωγραφικό: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:33615640; info:eu-repo/semantics/altIdentifier/issn/1065-9471; info:eu-repo/semantics/altIdentifier/issn/1097-0193; https://pub.dzne.de/record/155631

Διαθεσιμότητα: https://pub.dzne.de/record/155631
https://pub.dzne.de/search?p=id:%22DZNE-2021-00799%22

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study: A Multisite Genetic-First Study

Συγγραφείς: Martin-Brevet, Sandra, Rodríguez-Herreros, Borja, Nielsen, Jared A., Moreau, Clara, Modenato, Claudia, Maillard, Anne M., Pain, Aurélie, Richetin, Sonia, Jønch, Aia E., Qureshi, Abid Y., Zürcher, Nicole R., Conus, Philippe, Addor, Marie Claude, Andrieux, Joris, Arveiler, Benoît, Baujat, Geneviève, Sloan-Béna, Frédérique, Belfiore, Marco, Bonneau, Dominique, Bouquillon, Sonia, Boute, Odile, Brusco, Alfredo, Busa, Tiffany, Caberg, Jean Hubert, Campion, Dominique, Colombert, Vanessa, Cordier, Marie Pierre, David, Albert, Debray, François Guillaume, Delrue, Marie Ange, Doco-Fenzy, Martine, Dunkhase-Heinl, Ulrike, Edery, Patrick, Fagerberg, Christina, Faivre, Laurence, Forzano, Francesca, Genevieve, David, Gérard, Marion, Giachino, Daniela, Guichet, Agnès, Guillin, Olivier, Héron, Delphine, Isidor, Bertrand, Jacquette, Aurélia, Jaillard, Sylvie, Journel, Hubert, Keren, Boris, Lacombe, Didier, Lebon, Sébastien, Le Caignec, Cédric, Lemaître, Marie Pierre, Lespinasse, James, Mathieu-Dramart, Michèle, Mercier, Sandra, Mignot, Cyril, Missirian, Chantal, Petit, Florence, Pilekær Sørensen, Kristina, Pinson, Lucile, Plessis, Ghislaine, Prieur, Fabienne, Rooryck-Thambo, Caroline, Rossi, Massimiliano, Sanlaville, Damien, Schlott Kristiansen, Britta, Schluth-Bolard, Caroline, Till, Marianne, Van Haelst, Mieke, Van Maldergem, Lionel, Alupay, Hanalore, Aaronson, Benjamin, Ackerman, Sean, Ankenman, Katy, Anwar, Ayesha, Atwell, Constance, Bowe, Alexandra, Beaudet, Arthur L., Benedetti, Marta, Berg, Jessica, Berman, Jeffrey, Berry, Leandra N., Bibb, Audrey L., Blaskey, Lisa, Brennan, Jonathan, Brewton, Christie M., Buckner, Randy L., Bukshpun, Polina, Burko, Jordan, Cali, Phil, Cerban, Bettina, Chang, Yishin, Cheong, Maxwell, Chow, Vivian, Chu, Zili, Chudnovskaya, Darina, Cornew, Lauren, Dale, Corby, Dell, John, Dempsey, Allison G., Deschamps, Trent, Earl, Rachel, Edgar, James, Elgin, Jenna, Olson, Jennifer Endre, Evans, Yolanda L., Findlay, Anne, Fischbach, Gerald D., Fisk, Charlie, Fregeau, Brieana, Gaetz, Bill, Gaetz, Leah, Garza, Silvia, Gerdts, Jennifer, Glenn, Orit, Gobuty, Sarah E., Golembski, Rachel, Greenup, Marion, Heiken, Kory, Hines, Katherine, Hinkley, Leighton, Jackson, Frank I., Jenkins, Julian, Jeremy, Rita J., Johnson, Kelly, Kanne, Stephen M., Kessler, Sudha, Khan, Sarah Y., Ku, Matthew, Kuschner, Emily, Laakman, Anna L., Lam, Peter, Lasala, Morgan W., Lee, Hana, LaGuerre, Kevin, Levy, Susan, Cavanagh, Alyss Lian, Llorens, Ashlie V., Campe, Katherine Loftus, Luks, Tracy L., Marco, Elysa J., Martin, Stephen, Martin, Alastair J., Marzano, Gabriela, Masson, Christina, McGovern, Kathleen E., McNally Keehn, Rebecca, Miller, David T., Miller, Fiona K., Moss, Timothy J., Murray, Rebecca, Nagarajan, Srikantan S., Nowell, Kerri P., Owen, Julia, Paal, Andrea M., Packer, Alan, Page, Patricia Z., Paul, Brianna M., Peters, Alana, Peterson, Danica, Poduri, Annapurna, Pojman, Nicholas J., Porche, Ken, Proud, Monica B., Qasmieh, Saba, Ramocki, Melissa B., Reilly, Beau, Roberts, Timothy P.L., Shaw, Dennis, Sinha, Tuhin, Smith-Packard, Bethanny, Gallagher, Anne Snow, Swarnakar, Vivek, Thieu, Tony, Triantafallou, Christina, Vaughan, Roger, Wakahiro, Mari, Wallace, Arianne, Ward, Tracey, Wenegrat, Julia, Wolken, Anne, Chung, Wendy K., Sherr, Elliott H., Spiro, John E., Kherif, Ferath, Beckmann, Jacques S., Hadjikhani, Nouchine, Reymond, Alexandre, Draganski, Bogdan, Jacquemont, Sébastien

Συνεισφορές: CABERG, Jean-Hubert, DEBRAY, François-Guillaume, 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, Addor, M.C., Andrieux, J., Arveiler, B., Baujat, G., Sloan-Béna, F., Belfiore, M., Bonneau, D., Bouquillon, S., Boute, O., Brusco, A., Busa, T., Caberg, J.H., Campion, D., Colombert, V., Cordier, M.P., David, A., Debray, F.G., Delrue, M.A., Doco-Fenzy, M., Dunkhase-Heinl, U., Edery, P., Fagerberg, C., Faivre, L., Forzano, F., Genevieve, D., Gérard, M., Giachino, D., Guichet, A., Guillin, O., Héron, D., Isidor, B., Jacquette, A., Jaillard, S., Journel, H., Keren, B., Lacombe, D., Lebon, S., Le Caignec, C., Lemaître, M.P., Lespinasse, J., Mathieu-Dramart, M., Mercier, S., Mignot, C., Missirian, C., Petit, F., Pilekær Sørensen, K., Pinson, L., Plessis, G., Prieur, F., Rooryck-Thambo, C., Rossi, M., Sanlaville, D., Schlott Kristiansen, B., Schluth-Bolard, C., Till, M., Van Haelst, M., Van Maldergem, L., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A.L., Benedetti, M., Berg, J., Berman, J., Berry, L.N., Bibb, A.L., Blaskey, L., Brennan, J., Brewton, C.M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A.G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, J.E., Evans, Y.L., Findlay, A., Fischbach, G.D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S.E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F.I., Jenkins, J., Jeremy, R.J., Johnson, K., Kanne, S.M., Kessler, S., Khan, S.Y., Ku, M., Kuschner, E., Laakman, A.L., Lam, P., Lasala, M.W., Lee, H., LaGuerre, K., Levy, S., Cavanagh, A.L., Llorens, A.V., Campe, K.L., Luks, T.L., Marco, E.J., Martin, S., Martin, A.J., Marzano, G., Masson, C., McGovern, K.E., McNally Keehn, R., Miller, D.T., Miller, F.K., Moss, T.J., Murray, R., Nagarajan, S.S., Nowell, K.P., Owen, J., Paal, A.M., Packer, A., Page, P.Z., Paul, B.M., Peters, A., Peterson, D., Poduri, A., Pojman, N.J., Porche, K., Proud, M.B., Qasmieh, S., Ramocki, M.B., Reilly, B., Roberts, TPL, Shaw, D., Sinha, T., Smith-Packard, B., Gallagher, A.S., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Philips, Alexandre, Centre Hospitalier Universitaire Vaudois = Lausanne University Hospital Lausanne (CHUV), Université de Lausanne = University of Lausanne (UNIL), CHU Sainte Justine Montréal, Harvard University, Odense University Hospital (OUH), Department of radiology (Massachusetts General Hospital), Massachusetts General Hospital Boston, Department of Psychiatry Massachusetts General Hospital (MGH), Columbia University New York, Simons Foundation, University of California San Francisco (UC San Francisco), University of California (UC), Göteborgs Universitet = University of Gothenburg (GU), Department of Psychiatry Boston, Centre de recherche du CHU Sainte-Justine / Research Center of the Sainte-Justine University Hospital Montreal, Canada, Université de Montréal (UdeM)-CHU Sainte Justine Montréal, Laboratoire de Génétique Clinique, Hôpital Jeanne de Flandre Lille -Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Laboratoire de Génétique Humaine, Développement et Cancer, Université Bordeaux Segalen - Bordeaux 2, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique Médicale CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Guglielmo Marconi University Roma, Laboratoire de biomécanique (LBM), Université Paris 13 (UP13)-Université Sorbonne Paris Cité (USPC)-Centre National de la Recherche Scientifique (CNRS), Systèmes de Référence Temps Espace (SYRTE), Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de Paris, Centre National de la Recherche Scientifique (CNRS)-Université Paris Sciences et Lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Sciences et Lettres (PSL)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique clinique, Hôpital Jeanne de Flandre Lille -Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Department of Medical Sciences, Università degli studi di Torino = University of Turin (UNITO), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Liège (CHU-Liège), Service de cytogénétique constitutionnelle, Hospices Civils de Lyon (HCL)-CHU de Lyon-Centre Neuroscience et Recherche, Department of Clinical Genetics, Vejle Hospital Danemark, Institute of Child Health, Département de génétique médicale, maladies rares et médecine personnalisée CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Service de génétique Angers, Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-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)-Centre National de la Recherche Scientifique (CNRS), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes (Biosit : Biologie - Santé - Innovation Technologique), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou, Génétique Médicale, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA)-Hôpital Chubert, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de génétique médicale, Université de Bordeaux (UB)-Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux)-Groupe hospitalier Pellegrin, Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Génétique Chromosomique, Bâtiment Hôtel Dieu - Centre Hospitalier de Chambéry, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Service de génétique, CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de Génétique CHU Caen, Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Etienne CHU Saint-Etienne (CHU ST-E), Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux), Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

Πηγή: Simons Variation in Individuals Project (VIP) Consortium & 16p11.2 European Consortium 2018, 'Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure : A Multisite Genetic-First Study', Biological Psychiatry, vol. 84, no. 4, pp. 253-264. https://doi.org/10.1016/j.biopsych.2018.02.1176
Biological Psychiatry
Biological psychiatry, vol. 84, no. 4, pp. 253-264
16p11.2 European Consortium 2018, ' Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure : A Multisite Genetic-First Study ', Biological Psychiatry, vol. 84, no. 4, pp. 253-264 . https://doi.org/10.1016/j.biopsych.2018.02.1176

Θεματικοί όροι: Adult, Male, 0301 basic medicine, Adolescent, DNA Copy Number Variations, Autism Spectrum Disorder, [SDV]Life Sciences [q-bio], Autism Spectrum Disorder/diagnostic imaging, Autism Spectrum Disorder/genetics, Brain/pathology, Child, Chromosome Deletion, Chromosome Duplication, Chromosomes, Human, Pair 16/genetics, Cognitive Dysfunction/diagnostic imaging, Cognitive Dysfunction/genetics, Female, Humans, Intellectual Disability/diagnostic imaging, Intellectual Disability/genetics, Language, Magnetic Resonance Imaging, Middle Aged, Neurodevelopmental Disorders/diagnostic imaging, Neurodevelopmental Disorders/genetics, Schizophrenia/diagnostic imaging, Schizophrenia/genetics, Young Adult, 16p11.2, Autism spectrum disorder, Copy number variant, Genetics, Imaging, Neurodevelopmental disorders, Genetics & genetic processes, Biological Psychiatry, Génétique & processus génétiques, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Cognitive Dysfunction, 10. No inequality, Brain, Life sciences, 3. Good health, [SDV] Life Sciences [q-bio], 16p112, Neurodevelopmental Disorders, 13. Climate action, Sciences du vivant, Schizophrenia, Chromosomes, Human, Pair 16

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: http://www.biologicalpsychiatryjournal.com/article/S000632231831401X/pdf
https://pubmed.ncbi.nlm.nih.gov/29778275
https://serval.unil.ch/resource/serval:BIB_8964BF69CE74.P001/REF.pdf
https://www.sciencedirect.com/science/article/pii/S000632231831401X
https://pure.mpg.de/pubman/item/item_2596716_10/component/file_2637685/Martin-Brevet_Rodriguez-Herreros_2017.pdf
https://pure.mpg.de/pubman/faces/ViewItemOverviewPage.jsp?itemId=item_2596716
https://core.ac.uk/display/159132857
https://www.ncbi.nlm.nih.gov/pubmed/29778275
https://research.vumc.nl/en/publications/e939e162-b248-4ca7-92c3-0875ba22c872
https://pure.amsterdamumc.nl/en/publications/71fcc0a7-0452-4fba-81e1-ed637db19f21
https://doi.org/10.1016/j.biopsych.2018.02.1176
https://hdl.handle.net/2268/226236
https://doi.org/10.1016/j.biopsych.2018.02.1176
http://hdl.handle.net/21.11116/0000-0001-6AE8-3
http://hdl.handle.net/21.11116/0000-0001-FF1F-F
https://serval.unil.ch/resource/serval:BIB_8964BF69CE74.P001/REF.pdf
https://serval.unil.ch/notice/serval:BIB_8964BF69CE74
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_8964BF69CE744
https://hal.umontpellier.fr/hal-01870357v1/document
https://doi.org/10.1016/j.biopsych.2018.02.1176
https://hal.umontpellier.fr/hal-01870357v1
https://findresearcher.sdu.dk:8443/ws/files/142649202/Quantifying_the_Effects_of_16p11.2_Copy_Number_Variants_on_Brain_Structure.pdf
https://hdl.handle.net/2318/1669158
https://doi.org/10.1016/j.biopsych.2018.02.1176
https://www.biologicalpsychiatryjournal.com/article/S0006-3223(18)31401-X/fulltext

Early Electroencephalography Suppression and Postnatal Morbidities Correlate with Cerebral Volume at Term-Equivalent Age in Very Preterm Infants

Συγγραφείς: Sverre Wikström, Holger Hövel, Ingrid Hansen Pupp, Vineta Fellman, Petra S. Hüppi, David Ley, Lena Hellström-Westas

Πηγή: Neonatology, Vol. 113, No 1 (2018) pp. 15-20

Θεματικοί όροι: Male, Neurodevelopmental Disorders/diagnostic imaging, Gestational Age, 03 medical and health sciences, 0302 clinical medicine, Humans, Cerebrospinal Fluid, Sweden, ddc:618, Infant, Newborn, Infant, Brain, Electroencephalography, Newborn, Magnetic Resonance Imaging, 3. Good health, Neurodevelopmental Disorders, Extremely Premature/growth & development, Infant, Extremely Premature, Multivariate Analysis, Regression Analysis, Female, Morbidity, Brain/diagnostic imaging/growth & development/pathology

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/28934743
https://archive-ouverte.unige.ch/unige:107567
https://pubmed.ncbi.nlm.nih.gov/28934743/
https://www.ncbi.nlm.nih.gov/pubmed/28934743
https://portal.research.lu.se/en/publications/early-electroencephalography-suppression-and-postnatal-morbiditie
https://www.karger.com/Article/Pdf/479423
http://www.diva-portal.org/smash/record.jsf?pid=diva2:1174972
https://archive-ouverte.unige.ch/unige:107567

Abnormal neurodevelopmental outcomes are very likely in cases of bilateral neonatal arterial ischaemic stroke

Συγγραφείς: Min Soo Park, Ran Namgung, Ju Hyun Jin, Ho Seon Eun, Soon Min Lee, Jeong Eun Shin, Kook In Park

Συνεισφορές: College of Medicine, Dept. of Pediatrics, Ju Hyun Jin, Jeong Eun Shin, Soon Min Lee, Ho Seon Eun, Min Soo Park, Kook In Park, Ran Namgung, Namgung, Ran, Park, Kook In, Park, Min Soo, Shin, Jeong Eun, Eun, Ho Seon, Lee, Soon Min, Jin, Ju Hyun

Πηγή: Acta Paediatrica. 106:229-235

Θεματικοί όροι: Male, Neurodevelopmental Disorders/diagnostic imaging, Arterial ischaemic stroke, Neuroimaging, Cerebral Infarction/diagnostic imaging, 03 medical and health sciences, 0302 clinical medicine, Cerebral Infarction/complications, Humans, Child, Preschool, Neurodevelopmental Disorders/etiology, Retrospective Studies, Bilateral involvement, Delayed development, Infant, Newborn, Infant, Electroencephalography, Cerebral Infarction, Newborn, Magnetic Resonance Imaging, 3. Good health, Abnormal neurodevelopmental outcome, Neurodevelopmental Disorders, Child, Preschool, Cerebral palsy, Female

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/27809371
https://onlinelibrary.wiley.com/doi/abs/10.1111/apa.13655
https://ir.ymlib.yonsei.ac.kr/handle/22282913/154497
https://europepmc.org/article/MED/27809371
https://mdanderson.elsevierpure.com/en/publications/abnormal-neurodevelopmental-outcomes-are-very-likely-in-cases-of--2

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

Συγγραφείς: Kreienkamp, Hans-Jürgen, Wagner, Matias, Weigand, Heike, McConkie-Rossell, Allyn, McDonald, Marie, Keren, Boris, Mignot, Cyril, Gauthier, Julie, Soucy, Jean-François, Michaud, Jacques L, Dumas, Meghan, Smith, Rosemarie, Löbel, Ulrike, Hempel, Maja, Kubisch, Christian, Denecke, Jonas, Campeau, Philippe M, Bain, Jennifer M, Lessel, Davor

Πηγή: MaineHealth Maine Medical Center

Θεματικοί όροι: Adolescent, Alternative Splicing (genetics), Amino Acid Substitution, Brain (diagnostic imaging), Child, Preschool, Chromosomes, Human, X (genetics), Codon, Nonsense, Diseases in Twins (diagnostic imaging, genetics), Female, Frameshift Mutation, Genetic Association Studies, Genetic Variation, Heterogeneous-Nuclear Ribonucleoprotein Group F-H (genetics), Humans, Intellectual Disability (diagnostic imaging, Male, Mutation, Missense, Neurodevelopmental Disorders (diagnostic imaging, Phenotype, RNA-Seq, Twins, Monozygotic, Young Adult

Relation: https://knowledgeconnection.mainehealth.org/mmc/2253; https://pubmed.ncbi.nlm.nih.gov/34907471/

Διαθεσιμότητα: https://knowledgeconnection.mainehealth.org/mmc/2253
https://pubmed.ncbi.nlm.nih.gov/34907471/

Early Electroencephalography Suppression and Postnatal Morbidities Correlate with Cerebral Volume at Term-Equivalent Age in Very Preterm Infants

Συγγραφείς: Wikström, Sverre, Hövel, Holger, Hansen Pupp, Ingrid, Fellman, Vineta, Hüppi, Petra Susan, Ley, David, Hellström-Westas, Lena

Πηγή: ISSN: 1661-7800 ; Neonatology, vol. 113, no. 1 (2018) p. 15-20.

Θεματικοί όροι: info:eu-repo/classification/ddc/618, Brain/diagnostic imaging/growth & development/pathology, Cerebrospinal Fluid, Electroencephalography, Female, Gestational Age, Humans, Infant, Extremely Premature/growth & development, Newborn, Magnetic Resonance Imaging, Male, Morbidity, Multivariate Analysis, Neurodevelopmental Disorders/diagnostic imaging, Regression Analysis, Sweden

Relation: info:eu-repo/semantics/altIdentifier/pmid/28934743; unige:107567

Διαθεσιμότητα: https://archive-ouverte.unige.ch/unige:107567