نتائج البحث - "Chassevent, Anna"

1

دورية أكاديمية

mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.

المصدر: Brain. 145(6)

مصطلحات موضوعية: SZT2, epilepsy, genetics, mTOR, variant, Epilepsies, Partial, Epilepsy, Humans, Mechanistic Target of Rapamycin Complex 1, Megalencephaly, Nerve Tissue Proteins, Tumor Suppressor Proteins

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0r439455Test

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2

دورية أكاديمية

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

المؤلفون: Karayol, Remzi, Borroto, Maria Carla, Haghshenas, Sadegheh, Namasivayam, Anoja, Reilly, Jack, Levy, Michael A, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Shvedunova, Maria, Petersen, Andrea K, Magnussen, Kari, Zweier, Christiane, Vasileiou, Georgia, Reis, André, Savatt, Juliann M, Mulligan, Meghan R, Bicknell, Louise S, Poke, Gemma, Abu-El-Haija, Aya, Duis, Jessica, Hannig, Vickie, Srivastava, Siddharth, Barkoudah, Elizabeth, Hauser, Natalie S, van den Born, Myrthe, Hamiel, Uri, Henig, Noa, Baris Feldman, Hagit, McKee, Shane, Krapels, Ingrid P C, Lei, Yunping, Todorova, Albena, Yordanova, Ralitsa, Atemin, Slavena, Rogac, Mihael, McConnell, Vivienne, Chassevent, Anna, Barañano, Kristin W, Shashi, Vandana, Sullivan, Jennifer A, Peron, Angela, Iascone, Maria, Canevini, Maria P, Friedman, Jennifer, Reyes, Iris A, Kierstein, Janell, Shen, Joseph J, Ahmed, Faria N, Mao, Xiao, Sadikovic, Bekim, Akhtar, Asifa

المصدر: Karayol , R , Borroto , M C , Haghshenas , S , Namasivayam , A , Reilly , J , Levy , M A , Relator , R , Kerkhof , J , McConkey , H , Shvedunova , M , Petersen , A K , Magnussen , K , Zweier , C , Vasileiou , G , Reis , A , Savatt , J M , Mulligan , M R , Bicknell , L S , Poke , G , Abu-El-Haija , A , Duis , J , Hannig , V , Srivastava , S , Barkoudah ....

مصطلحات موضوعية: MSL2, autism, connective tissue, epigenetics, epilepsy, episignature, iPSC, male-specific lethal complex, neurodevelopmental syndrome

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/19226d0a-44bf-4a46-9eea-fdf815418363Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2024.05.001Test
https://cris.maastrichtuniversity.nl/en/publications/19226d0a-44bf-4a46-9eea-fdf815418363Test

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3

دورية أكاديمية

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders

المساهمون: Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics

مصطلحات موضوعية: neurology, genetic variation, phenotype, human genetics, INTELLECTUAL DISABILITY, UBIQUITIN LIGASE, VARIANTS, HECW2, MUTATIONS, NEDL2, GENETICS, GENES, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: WKC is funded by grants from the JPB Foundation and Simons Foundation. IS is supported by a pilot grant from the Columbia University Sergievsky Center.; Acharya , A , Kavus , H , Dunn , P , Nasir , A , Folk , L , Withrow , K , Wentzensen , I M , Ruzhnikov , M R Z , Fallot , C , Smol , T , Rama , M , Brown , K , Whalen , S , Ziegler , A , Barth , M , Chassevent , A , Smith-Hicks , C , Afenjar , A , Courtin , T , Heide , S , Font-Montgomery , E , Heid , C , Hamm , J A , Love , D R , Thabet , F , Misra , V K , Cunningham , M , Leal , S M , Järvelä , I , Normand , E A , Zou , F , Helal , M , Keren , B , Torti , E , Chung , W K & Schrauwen , I 2022 , ' Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders ' , Journal of Medical Genetics , vol. 59 , pp. 669–677 . https://doi.org/10.1136/jmedgenet-2021-107871Test; ORCID: /0000-0002-1770-6187/work/127003138; e3ee1496-7280-490f-9cbe-b4337608689c; http://hdl.handle.net/10138/353339Test; 000728118500001

الإتاحة: http://hdl.handle.net/10138/353339Test

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4

دورية أكاديمية

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

المؤلفون: Gracia-Diaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, Espana-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A, Lei, Sunyimeng, Otrimski, Garrett, Li, Dong, Sheppard, Sarah E, Mark, Paul, Harr, Margaret H, Hakonarson, Hakon, Rodan, Lance, Jackson, Adam, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A, Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fatima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H, di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna C E, Thompson, Michelle L, Chassevent, Anna, Smith-Hicks, Constance L, de la Cruz, Xavier, Holtz, Alexander M, Elloumi, Houda Zghal, Hajianpour, M J, Rieubland, Claudine, Braun, Dominique, Banka, Siddharth, French, Deborah L, Heller, Elizabeth A, Saade, Murielle, Song, Hongjun, Ming, Guo-Li, Alkuraya, Fowzan S, Agrawal, Pankaj B, Reinberg, Danny, Bhoj, Elizabeth J, Martínez-Balbás, Marian A, Akizu, Naiara

المصدر: Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; Espana-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natàlia; Fueyo, Raquel; Waxman, Elisa A; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah E; Mark, Paul; Harr, Margaret H; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep; . (2023). Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nature Communications, 14(1), p. 4109. Springer Nature 10.1038/s41467-023-39645-5

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/184706Test/

الإتاحة: https://doi.org/10.1038/s41467-023-39645-5Test
https://boris.unibe.ch/184706/1/s41467-023-39645-5.pdfTest
https://boris.unibe.ch/184706Test/

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5

دورية أكاديمية

The different clinical facets of SYN1-related neurodevelopmental disorders

المؤلفون: Parenti, Ilaria, Leitão, Elsa, Kuechler, Alma, Villard, Laurent, Goizet, Cyril, Courdier, Cécile, Bayat, Allan, Rossi, Alessandra, Julia, Sophie, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Nambot, Sophie, Lehalle, Daphné, Willems, Marjolaine, Lespinasse, James, Ghoumid, Jamal, Caumes, Roseline, Smol, Thomas, El Chehadeh, Salima, Schaefer, Elise, Abi-Warde, Marie-Thérèse, Keren, Boris, Afenjar, Alexandra, Tabet, Anne-Claude, Levy, Jonathan, Maruani, Anna, Aledo-Serrano, Ángel, Garming, Waltraud, Milleret-Pignot, Clara, Chassevent, Anna, Koopmans, Marije, Verbeek, Nienke, Person, Richard, Belles, Rebecca, Bellus, Gary, Salbert, Bonnie, Kaiser, Frank, Mazzola, Laure, Convers, Philippe, Perrin, Laurine, Piton, Amélie, Wiegand, Gert, Accogli, Andrea, Brancati, Francesco, Benfenati, Fabio, Chatron, Nicolas, Lewis-Smith, David, Thomas, Rhys, Zara, Federico, Striano, Pasquale, Lesca, Gaetan, Depienne, Christel

المساهمون: University Hospital Essen (AöR), Aix-Marseille Université - Faculté de médecine (AMU MED), Aix Marseille Université (AMU), Institut de Neurosciences cognitives et intégratives d'Aquitaine (INCIA), Université Bordeaux Segalen - Bordeaux 2-Université Sciences et Technologies - Bordeaux 1 (UB)-SFR Bordeaux Neurosciences-Centre National de la Recherche Scientifique (CNRS), IRCCS Policlinico San Matteo Foundation, Centre d'Epidémiologie et de Recherche en santé des POPulations (CERPOP), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Bourgogne Franche-Comté COMUE (UBFC), Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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)

المصدر: ISSN: 2296-634X ; Frontiers in Cell and Developmental Biology ; https://amu.hal.science/hal-03949582Test ; Frontiers in Cell and Developmental Biology, 2022, 10, ⟨10.3389/fcell.2022.1019715⟩.

مصطلحات موضوعية: SYN1, Autism spectrum disorders, Genotype-phenotype correlation, Neurodevelopmental disorders, Reflex epilepsy, Synapsins, [SDV]Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: hal-03949582; https://amu.hal.science/hal-03949582Test; https://amu.hal.science/hal-03949582/documentTest; https://amu.hal.science/hal-03949582/file/fcell-10-1019715.pdfTest

الإتاحة: https://doi.org/10.3389/fcell.2022.1019715Test
https://amu.hal.science/hal-03949582Test
https://amu.hal.science/hal-03949582/documentTest
https://amu.hal.science/hal-03949582/file/fcell-10-1019715.pdfTest

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6

دورية أكاديمية

Heterozygous NOTCH1 variants cause CNS immune activation and microangiopathy

مصطلحات موضوعية: ddc:610

وصف الملف: application/pdf

العلاقة: https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/98113Test; urn:nbn:de:bvb:384-opus4-981133; https://nbn-resolving.org/urn:nbn:de:bvb:384-opus4-981133Test; https://doi.org/10.1002/ana.26477Test; https://opus.bibliothek.uni-augsburg.de/opus4/files/98113/98113.pdfTest

الإتاحة: https://doi.org/10.1002/ana.26477Test
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/98113Test
https://nbn-resolving.org/urn:nbn:de:bvb:384-opus4-981133Test
https://opus.bibliothek.uni-augsburg.de/opus4/files/98113/98113.pdfTest

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7

دورية أكاديمية

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

المؤلفون: Lenaerts, Lisa, Reynhout, Sara, Verbinnen, Iris, Laumonnier, Frederic, Toutain, Annick, Bonnet-Brilhault, Frédérique, Hoorne, Yana, Joss, Shelagh, Chassevent, Anna, Smith-Hicks, Constance, Loeys, Bart, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mehta, Sarju, Chung, Wendy, Devriendt, Koenraad, Holder, Susan, Jewett, Tamison, Baldwin, Lauren, Wilson, William, Towner, Shelley, Srivastava, Siddharth, Johnson, Hannah, Daumer-Haas, Cornelia, Baethmann, Martina, Ruiz, Anna, Gabau, Elisabeth, Jain, Vani, Varghese, Vinod, Al-Beshri, Ali, Fulton, Stephen, Wechsberg, Oded, Orenstein, Naama, Prescott, Katrina, Childs, Anne-Marie, Faivre, Laurence, Moutton, Sébastien, Sullivan, Jennifer, Shashi, Vandana, Koudijs, Suzanne, Heijligers, Malou, Kivuva, Emma, Mctague, Amy, Male, Alison, van Ierland, Yvette, Plecko, Barbara, Maystadt, Isabelle, Hamid, Rizwan, Hannig, Vickie, Houge, Gunnar, Janssens, Veerle

المساهمون: Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), Imaging, Brain & Neuropsychiatry (iBraiN), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Queen Elizabeth University Hospital (Glasgow), Kennedy Krieger Institute Baltimore, University of Antwerp (UA), Universität Zürich Zürich = University of Zurich (UZH), Addenbrooke’s Hospital Cambridge, UK, Columbia University Medical Center (CUMC), Columbia University New York, North West Thames Regional Genetics Service London, UK (Harrow), North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow-Northwick Park Hospital Harrow, UK (NPH), Wake Forest University, University of Virginia, Boston Children's Hospital, Prenatal Medicine Munich Munich, Germany (PMM), Klinikum Dritter Orden Munich, Universitat Autònoma de Barcelona = Autonomous University of Barcelona = Universidad Autónoma de Barcelona (UAB), University Hospital of Wales (UHW), University of Alabama at Birmingham Birmingham (UAB), Le Bonheur Children's Hospital Memphis, TN, USA (LBCH), Schneider Children’s Medical Center of Israel Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University (TAU), Leeds Teaching Hospitals NHS Trust, Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Maison de Santé Protestante de Bordeaux-Bagatelle (MSPB), Duke University Medical Center, Maastricht University Medical Centre (MUMC), Maastricht University Maastricht, Royal Devon and Exeter NHS Foundation Trust UK, Great Ormond Street Institute of Child Health (UCL), University College of London London (UCL), Erasmus University Medical Center Rotterdam (Erasmus MC), Medical University Graz, Institut de Pathologie et Génétique Gosselies (I.P.G.), Vanderbilt University Medical Center Nashville, Vanderbilt University Nashville, Haukeland University Hospital, University of Bergen (UiB), Leuven Brain Institute Leuven, Belgium (LBI)

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: PPP2R1A, PP2A, intellectual disability, neurodevelopmental disorder, epilepsy, [SDV]Life Sciences [q-bio], [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33106617; inserm-03273405; https://inserm.hal.science/inserm-03273405Test; https://inserm.hal.science/inserm-03273405/documentTest; https://inserm.hal.science/inserm-03273405/file/s41436-020-00981-2.pdfTest; PUBMED: 33106617; PUBMEDCENTRAL: PMC7862067

الإتاحة: https://doi.org/10.1038/s41436-020-00981-2Test
https://inserm.hal.science/inserm-03273405Test
https://inserm.hal.science/inserm-03273405/documentTest
https://inserm.hal.science/inserm-03273405/file/s41436-020-00981-2.pdfTest

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8

دورية أكاديمية

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

المؤلفون: van Woerden, Geeske M., Bos, Melanie, de Konink, Charlotte, Distel, Ben, Avagliano Trezza, Rossella, Shur, Natasha E., Barañano, Kristin, Mahida, Sonal, Chassevent, Anna, Schreiber, Allison, Erwin, Angelika L., Gripp, Karen W., Rehman, Fatima, Brulleman, Saskia, McCormack, Róisín, de Geus, Gwynna, Kalsner, Louisa, Sorlin, Arthur, Bruel, Ange Line, Koolen, David A., Gabriel, Melissa K., Rossi, Mari, Fitzpatrick, David R., Wilkie, Andrew O.M., Calpena, Eduardo, Johnson, David, Brooks, Alice, van Slegtenhorst, Marjon, Fleischer, Julie, Groepper, Daniel, Lindstrom, Kristin, Innes, A. Micheil, Goodwin, Allison, Humberson, Jennifer, Noyes, Amanda, Langley, Katherine G., Telegrafi, Aida, Blevins, Amy, Hoffman, Jessica, Guillen Sacoto, Maria J., Juusola, Jane, Monaghan, Kristin G., Punj, Sumit, Simon, Marleen, Pfundt, Rolph, Elgersma, Ype, Kleefstra, Tjitske

المصدر: van Woerden , G M , Bos , M , de Konink , C , Distel , B , Avagliano Trezza , R , Shur , N E , Barañano , K , Mahida , S , Chassevent , A , Schreiber , A , Erwin , A L , Gripp , K W , Rehman , F , Brulleman , S , McCormack , R , de Geus , G , Kalsner , L , Sorlin , A , Bruel , A L , Koolen , D A , Gabriel , M K , Rossi , M , ....

الإتاحة: https://doi.org/10.1002/humu.24176Test
https://pure.eur.nl/en/publications/40d4fed9-ed6c-4d87-a215-5913a09b1a2dTest
http://www.scopus.com/inward/record.url?scp=85101812177&partnerID=8YFLogxKTest

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9

دورية أكاديمية

Delineating the genotypic and phenotypic spectrum of HECW2 -related neurodevelopmental disorders

المساهمون: Columbia University Medical Center (CUMC), Columbia University New York, The George Washington University (GW), University of Agriculture Faisalabad - UAF (PAKISTAN), GeneDx Gaithersburg, MD, USA, Stanford University, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Institut de génétique médicale, University of Colorado Anschutz Aurora, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Kennedy Krieger Institute Baltimore, Johns Hopkins University School of Medicine Baltimore, CHU Pitié-Salpêtrière AP-HP, University of Missouri Columbia (Mizzou), University of Missouri System, Sidra Medicine Doha, Qatar, Children's Hospital of Michigan, Central Michigan University (CMU), Helsingin yliopisto = Helsingfors universitet = University of Helsinki

المصدر: ISSN: 0022-2593.

مصطلحات موضوعية: genetic variation, human genetics, neurology, phenotype, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34321324; hal-03998194; https://hal.science/hal-03998194Test; https://hal.science/hal-03998194/documentTest; https://hal.science/hal-03998194/file/HECW2_main_Tables_updated.pdfTest; PUBMED: 34321324

الإتاحة: https://doi.org/10.1136/jmedgenet-2021-107871Test
https://hal.science/hal-03998194Test
https://hal.science/hal-03998194/documentTest
https://hal.science/hal-03998194/file/HECW2_main_Tables_updated.pdfTest

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