Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

Συγγραφείς: Stephanie Efthymiou, Cailyn P. Leo, Chenghong Deng, Sheng-Jia Lin, Reza Maroofian, Renee Lin, Irem Karagoz, Kejia Zhang, Rauan Kaiyrzhanov, Annarita Scardamaglia, Daniel Owrang, Valentina Turchetti, Friederike Jahnke, Kevin Huang, Cassidy Petree, Anna V. Derrick, Mark I. Rees, Javeria Raza Alvi, Tipu Sultan, Chumei Li, Marie-Line Jacquemont, Frederic Tran-Mau-Them, Maria Valenzuela-Palafoll, Rich Sidlow, Grace Yoon, Michelle M. Morrow, Deanna Alexis Carere, Mary O'Connor, Julie Fleischer, Erica H. Gerkes, Chanika Phornphutkul, Bertrand Isidor, Clotilde Rivier-Ringenbach, Christophe Philippe, Semra Hiz Kurul, Didem Soydemir, Bulent Kara, Deniz Sunnetci-Akkoyunlu, Viktoria Bothe, Konrad Platzer, Dagmar Wieczorek, Margarete Koch-Hogrebe, Nils Rahner, Ann-Charlotte Thuresson, Hans Matsson, Carina Frykholm, Sevcan Tuğ Bozdoğan, Atil Bisgin, Nicolas Chatron, Gaetan Lesca, Sara Cabet, Zeynep Tümer, Tina D. Hjortshøj, Gitte Rønde, Thorsten Marquardt, Janine Reunert, Erum Afzal, Mina Zamani, Reza Azizimalamiri, Hamid Galehdari, Pardis Nourbakhsh, Niloofar Chamanrou, Seo-Kyung Chung, Mohnish Suri, Paul J. Benke, Maha S. Zaki, Joseph G. Gleeson, Daniel G. Calame, Davut Pehlivan, Halil I. Yilmaz, Alper Gezdirici, Aboulfazl Rad, Iman Sabri Abumansour, Gabriela Oprea, Muhammed Burak Bereketoğlu, Guillaume Banneau, Sophie Julia, Jawaher Zeighami, Saeed Ashoori, Gholamreza Shariati, Alireza Sedaghat, Alihossein Sabri, Mohammad Hamid, Sahere Parvas, Tajul Arifin Tajudin, Uzma Abdullah, Shahid Mahmood Baig, Wendy K. Chung, Olga O. Glazunova, Sigaudy Sabine, Huma Arshad Cheema, Giovanni Zifarelli, Peter Bauer, Jai Sidpra, Kshitij Mankad, Barbara Vona, Andrew E. Fry, Gaurav K. Varshney, Henry Houlden, Dragony Fu

Συνεισφορές: Institut Català de la Salut, [Efthymiou S, Maroofian R, Lin R] Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N, UK. [Leo CP, Deng C] Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA. [Lin SJ] Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA. [Valenzuela-Palafoll M] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Efthymiou, Stephanie, Leo, Cailyn P., Deng, Chenghong, Lin, Sheng-Jia, Maroofian, Reza, Lin, Renee, Karagoz, Irem, Zhang, Kejia, Kaiyrzhanov, Rauan, Scardamaglia, Annarita, Fu, Dragony

Πηγή: Am J Hum Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Efthymiou, S, Leo, C P, Deng, C, Lin, S-J, Maroofian, R, Lin, R, Karagoz, I, Zhang, K, Kaiyrzhanov, R, Scardamaglia, A, Owrang, D, Turchetti, V, Jahnke, F, Huang, K, Petree, C, Derrick, A V, Rees, M I, Alvi, J R, Sultan, T, Li, C, Jacquemont, M-L, Tran-Mau-Them, F, Valenzuela-Palafoll, M, Sidlow, R, Yoon, G, Morrow, M M, Carere, D A, O'Connor, M, Fleischer, J, Gerkes, E H, Phornphutkul, C, Isidor, B, Rivier-Ringenbach, C, Philippe, C, Kurul, S H, Soydemir, D, Kara, B, Sunnetci-Akkoyunlu, D, Bothe, V, Platzer, K, Wieczorek, D, Koch-Hogrebe, M, Rahner, N, Thuresson, A-C, Matsson, H, Frykholm, C, Bozdoğan, S T, Bisgin, A, Chatron, N, Lesca, G, Cabet, S, Tümer, Z, Hjortshøj, T D, Rønde, G, Marquardt, T, Reunert, J, Afzal, E, Zamani, M, Azizimalamiri, R, Galehdari, H, Nourbakhsh, P, Chamanrou, N, Chung, S-K, Suri, M, Benke, P J, Zaki, M S, Gleeson, J G, Calame, D G, Pehlivan, D, Yilmaz, H I, Gezdirici, A, Rad, A, Abumansour, I S, Oprea, G, Bereketoğlu, M B, Banneau, G, Julia, S, Zeighami, J, Ashoori, S, Shariati, G, Sedaghat, A, Sabri, A, Hamid, M, Parvas, S, Tajudin, T A, Abdullah, U, Baig, S M, Chung, W K, Glazunova, O O, Sabine, S, Cheema, H A, Zifarelli, G, Bauer, P, Sidpra, J, Mankad, K, Vona, B, Fry, A E, Varshney, G K, Houlden, H & Fu, D 2025, ' Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder ', American Journal of Human Genetics, vol. 112, no. 5, pp. 1117-1138 . https://doi.org/10.1016/j.ajhg.2025.03.015

Θεματικοί όροι: Male, Other subheadings::Other subheadings::Other subheadings::/genetics, Adolescent, Peix zebra, Cell- och molekylärbiologi, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, ORGANISMOS::Eukaryota::animales::Chordata::vertebrados::peces::Cipriniformes::Cyprinidae::pez cebra, ENFERMEDADES::enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual, Article, Medical Genetics and Genomics, FENÓMENOS Y PROCESOS::fenómenos genéticos::estructuras genéticas::genoma::componentes genómicos::genes::alelos, RNA, Transfer, DISEASES::Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Intellectual Disability, ORGANISMS::Eukaryota::Animals::Chordata::Vertebrates::Fishes::Cypriniformes::Cyprinidae::Zebrafish, Humans, Animals, RNA Processing, Post-Transcriptional, Child, Zebrafish, Alleles, tRNA Methyltransferases, Discapacitat intel·lectual - Aspectes genètics, disease model, Neurosciences, zebrafish, neurodevelopmental disorder, Medicinsk genetik och genomik, CHEMICALS AND DRUGS::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::RNA::RNA, Transfer, COMPUESTOS QUÍMICOS Y DROGAS::nucleótidos y nucleósidos de ácidos nucleicos::ácidos nucleicos::ARN::ARN de transferencia, intellectual disability, Neurodevelopmental Disorders, Child, Preschool, TRMT1, RNA, Female, tRNA modification, Trastorns del desenvolupament - Aspectes genètics, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles, Neurovetenskaper, Cell and Molecular Biology, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/40245862
http://hdl.handle.net/11351/13177
https://avesis.kocaeli.edu.tr/publication/details/aa7afc7e-34dc-4173-b698-617d6da7cb61/oai
https://cronfa.swan.ac.uk/Record/cronfa69406/Download/69406__34168__968ddcf0ddc14e3aafccddf19ff57aeb.pdf
https://resolver.sub.uni-goettingen.de/purl?gro-2/149156
https://curis.ku.dk/ws/files/451258628/1-s2.0-S0002929725001363-main.pdf
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-558965

Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants

Συγγραφείς: Douiev, Liza, Frank, Marika, Hanington, Lucy, Hoffman, Trevor, Irons, Mira B., FERNANDEZ ALVAREZ, PAULA, Lasa-Aranzasti, Amaia

Συνεισφορές: Institut Català de la Salut, Vall d'Hebron Barcelona Hospital Campus

Πηγή: Scientia

Θεματικοί όροι: Discapacitat intel·lectual - Aspectes genètics, Fenotip, Trastorns del desenvolupament - Aspectes genètics, Anomalies cromosòmiques, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, CHEMICALS AND DRUGS::Enzymes and Coenzymes::Enzymes::Ligases::Ubiquitin-Protein Ligase Complexes::Ubiquitin-Protein Ligases, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders::Developmental Disabilities, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Loss of Function Mutation, DISEASES::Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, COMPUESTOS QUÍMICOS Y DROGAS::enzimas y coenzimas::enzimas::ligasas::complejos ubicuitina-proteína ligasa::ubicuitina-proteína ligasas, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico::discapacidades del desarrollo, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación con pérdida de función, ENFERMEDADES::enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual

Περιγραφή αρχείου: application/pdf

Relation: American Journal of Medical Genetics Part A;197(8); https://doi.org/10.1002/ajmg.a.64048; https://hdl.handle.net/11351/13891; 001459853200001

Διαθεσιμότητα: https://hdl.handle.net/11351/13891
https://doi.org/10.1002/ajmg.a.64048

Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 Individuals

Συγγραφείς: Durizot, Meghane, BURGLEN, Lydie, Garel, Catherine, Blondiaux, Eléonore, Riquet, Audrey, Floret, Valentine, Valenzuela, Irene

Συνεισφορές: Institut Català de la Salut, Durizot M APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France. Lydie Burglen L Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau, Paris, France. Department of Clinical Genetics, Centre de Référence Malformations et Maladies Congénitales du Cervelet, Hôpital Armand-Trousseau, Paris, France. Garel C, Blondiaux E APHP Sorbonne Université, Service de Radiologie, Hôpital Trousseau, Paris, France. Riquet A Département de Neuropédiatrie, GHICL Université Catholique de Lille, Hôpital Saint Vincent de Paul, Lille, France. Floret V CHU de Lille, Service de Neuropédiatrie, Hôpital Salengro, Lille, France. Valenzuela MI Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

Πηγή: Scientia

Θεματικοί όροι: Trastorns del desenvolupament - Aspectes genètics, Fenotip, Tubulines, Discapacitat intel·lectual - Aspectes genètics, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders, Other subheadings::Other subheadings::Other subheadings::/genetics, CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Proteins::Amino Acids, and Proteins::Proteins::Nerve Tissue Proteins::Tubulin, DISEASES::Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Otros calificadores::Otros calificadores::Otros calificadores::/genética, COMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::proteínas::aminoácidos, péptidos y proteínas::proteínas::proteínas del tejido nervioso::tubulina (proteína), ENFERMEDADES::enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual

Περιγραφή αρχείου: application/pdf

Relation: Pediatric Neurology;170; https://doi.org/10.1016/j.pediatrneurol.2025.06.003; https://hdl.handle.net/11351/13534; 001526965400003

Διαθεσιμότητα: https://hdl.handle.net/11351/13534
https://doi.org/10.1016/j.pediatrneurol.2025.06.003

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Συγγραφείς: Elisa Calì, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Faqeih, Emilia K. Bijlsma, Kristen Wigby, Diana Baralle, Mohammad Yahya Vahidi Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn C. Jones, Dmitriy Niyazov, Jennifer Jacober, Rebecca O. Littlejohn, Denisa Weis, Neda Zadeh, Lance H. Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra‐Clarke, Gabriella Horváth, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto‐van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya Ebrahimi Nasab, A. Gulhan Ercan‐Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stéphanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada M.H. Abdel‐Salam, Megan Li, Mario Bengala, Amelie J. Müller, María Cristina Digilio, Anita Rauch, Murat Günel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott McLean, Chanika Phornphutkul, Mustafa A. Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian

Συνεισφορές: Institut Català de la Salut, [Cali E] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. [Suri M] Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, United Kingdom. [Scala M] Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy. Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. [Ferla MP] Genomic Medicine theme, Oxford Biomedical Research Centre, NIHR, Oxford, Oxfordshire, United Kingdom. Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, United Kingdom. [Alavi S] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran. Palindrome, Isfahan, Iran. [Faqeih EA] Section of Medical Genetics, Children’s Specialist Hospital, King Fahad Medical, City, Riyadh, Saudi Arabia. [Valenzuela I] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

Πηγή: Genet Med
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Genetics in Medicine, 25, 1, pp. 135-142

Θεματικοί όροι: Neurobiologia del desenvolupament, 0301 basic medicine, Protein-Arginine N-Methyltransferases, Medical Sciences, Autism, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Global developmental delay, Intellectual disability, ENFERMEDADES::enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual, Pediatrics, Gene, Craniofacial abnormality, Craniofacial, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Medical Specialties, Medicine and Health Sciences, Psychology, Syndromic neurodevelopmental disorder, Autism spectrum disorder, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enanismo, Psychiatry, 2. Zero hunger, 0303 health sciences, Discapacitat intel·lectual - Aspectes genètics, Mental and Social Health, Brief Report, Brachydactyly, Chromatinopathy, Life Sciences, Protein Arginine Methyltransferases, 3. Good health, FOS: Psychology, Phenotype, Neurology, Medicine, Mendelian disorders of the epigenetic machinery, PRMT7, DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Dwarfism, Other subheadings::Other subheadings::Other subheadings::/genetics, Epigenetic Modifications and Their Functional Implications, Radboud University Medical Center, Dwarfism, Hypotonia, 03 medical and health sciences, Protein Arginine Methylation in Mammals, Neurodevelopmental disorder, DISEASES::Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability, Intellectual Disability, Biochemistry, Genetics and Molecular Biology, Internal Medicine, Genetics, Humans, Obesity, Molecular Biology, Biology, Syndromic obesity, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Nanisme, Musculoskeletal Abnormalities, Short stature, Neurodevelopmental Disorders, FOS: Biological sciences, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders

Περιγραφή αρχείου: application/pdf; image/jpeg; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet; text

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/36399134
https://hdl.handle.net/11351/9325
https://repository.ubn.ru.nl//bitstream/handle/2066/290796/290796.pdf
https://hdl.handle.net/2066/290796
https://hdl.handle.net/1887/3753511
https://discovery-pp.ucl.ac.uk/id/eprint/10160152/
https://eprints.soton.ac.uk/472172/

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes: From nonspecific symptoms to complete syndromes

Συγγραφείς: Maia, N., Ibarluzea, N., Misra-Isrie, M., Koboldt, D.C., Marques, I., Soares, G., Santos, R., Marcelis, C.L.M., Keski-Filppula, R., Guitart, M., Gabau Vila, E., Lehman, A., Hickey, S., Mori, M., Terhal, P., Valenzuela, I., Lasa-Aranzasti, A., Cueto-González, A.M., Chhouk, B.H., Yeh, R.C., Neil, J.E., Abu-Libde, B., Kleefstra, T., Elting, M.W., Császár, A., Kárteszi, J., Bessenyei, B., van Bokhoven, H., Jorge, P., van Hagen, J.M., de Brouwer, A.P.M.

Συνεισφορές: Institut Català de la Salut, [Maia N, Marques I] Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magãlhaes (CGM), Centro Hospitalar Universitário do Porto (CHUPorto) Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal. [Ibarluzea N] Biocruces Bizkaia Health Research Institute, Barakaldo, Spain. [Misra-Isrie M] Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. [Koboldt DC] Steve and Cindy Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA. Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA. [Soares G] Unidade de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhaes (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal. [Valenzuela I] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Genetica Klinische Genetica, Child Health

Πηγή: Am J Med Genet A
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
instname
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
Maia, N, Ibarluzea, N, Misra-Isrie, M, Koboldt, D C, Marques, I, Soares, G, Santos, R, Marcelis, C L M, Keski-Filppula, R, Guitart, M, Gabau Vila, E, Lehman, A, Hickey, S, Mori, M, Terhal, P, Valenzuela, I, Lasa-Aranzasti, A, Cueto-González, A M, Chhouk, B H, Yeh, R C, Neil, J E, Abu-Libde, B, Kleefstra, T, Elting, M W, Császár, A, Kárteszi, J, Bessenyei, B, van Bokhoven, H, Jorge, P, van Hagen, J M & de Brouwer, A P M 2023, 'Missense MED12 variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes', American Journal of Medical Genetics, Part A, vol. 191, no. 1, pp. 135-143. https://doi.org/10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part A, 191, 1, pp. 135-143

Θεματικοί όροι: Male, 0301 basic medicine, Other subheadings::Other subheadings::Other subheadings::/genetics, phenotype, genotype, Mutation, Missense, Radboud University Medical Center, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo, Blepharophimosis, ENFERMEDADES::enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual, 03 medical and health sciences, DISEASES::Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability, Otros calificadores::Otros calificadores::Otros calificadores::/genética, X-Linked Intellectual Disability, Intellectual Disability, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense, Genetics, Humans, Genetics(clinical), 0303 health sciences, Discapacitat intel·lectual - Aspectes genètics, Mediator Complex, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Original Articles, Syndrome, MED12, 3. Good health, Anomalies cromosòmiques, Phenotype, intellectual disability

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/36271811
https://i3pt.portalinvestigacion.com/publicaciones/1211
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85140230561&doi=10.1002/ajmg.a.63004&partnerID=40&md5=45dbf18cd0b8721f05b43ca779c00dd1
https://hdl.handle.net/11351/9031
https://research.vumc.nl/en/publications/b842d293-e8d4-4bf3-b85f-4625087ef2c2
https://dspace.library.uu.nl/handle/1874/459768
https://pure.amsterdamumc.nl/en/publications/1c37e620-f91c-45dd-9f2b-9ee900854f7f
https://doi.org/10.1002/ajmg.a.63004
https://repository.ubn.ru.nl//bitstream/handle/2066/290821/290821.pdf
https://hdl.handle.net/2066/290821

Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature

Συγγραφείς: van der Laan, Liselot, Rooney, Kathleen, Haghshenas, Sadegheh, Silva, Ananilia, McConkey, Haley, Relator, Raissa, Lasa-Aranzasti, Amaia, Castells Sarret, Neus, Valenzuela, Irene, Trujillano Lidón, Laura, Campos Estela, Berta

Συνεισφορές: Institut Català de la Salut, van der Laan L Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Rooney K, McConkey H Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada. Department of Pathology and Laboratory Medicine, Western University, London, Canada. Haghshenas S, Relator R Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada. Silva A Department of Pathology and Laboratory Medicine, Western University, London, Canada. Valenzuela I, Trujillano L, Lasa-Aranzasti A, Campos B, Castells N Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

Πηγή: Scientia

Θεματικοί όροι: Genòmica, Discapacitat intel·lectual - Aspectes genètics, Trastorns del desenvolupament - Aspectes genètics, DISCIPLINES AND OCCUPATIONS::Natural Science Disciplines::Biological Science Disciplines::Biology::Computational Biology::Genomics::Epigenomics, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders, Other subheadings::Other subheadings::Other subheadings::/genetics, DISCIPLINAS Y OCUPACIONES::disciplinas de las ciencias naturales::disciplinas de las ciencias biológicas::biología::biología computacional::genómica::epigenómica, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Otros calificadores::Otros calificadores::Otros calificadores::/genética

Περιγραφή αρχείου: application/pdf

Relation: International Journal of Molecular Sciences;24(18); https://doi.org/10.3390/ijms241814240; https://hdl.handle.net/11351/10403

Διαθεσιμότητα: https://hdl.handle.net/11351/10403
https://doi.org/10.3390/ijms241814240

A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome

Συγγραφείς: Lucia Campos, Cristina, Valenzuela Palafoll, Ma Irene, Ros-Pardo, David, Arnedo, Maria, Castells Sarret, Neus, Plaja Rustein, Alberto, Tenés Felipe, Anna, Cuscó Martín, Ivon, Tizzano Ferrari, Eduardo Fidel, Latorre-Pellicer, Ana, Gil Salvador, Marta, Trujillano Lidón, Laura

Συνεισφορές: Institut Català de la Salut, Lucia-Campos C, Latorre-Pellicer A, Gil-Salvador M, Arnedo M Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain. Valenzuela I, Castells N, Plaja A, Tenes A, Trujillano L, Tizzano EF Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Ros-Pardo D Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Molecular Modeling Group, Madrid, Spain. Cuscó I Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Department of Genetics, Hospital Sant Pau, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

Πηγή: Scientia

Θεματικοί όροι: Discapacitat intel·lectual - Aspectes genètics, Malalties congènites, Fenotip, DISEASES::Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability::De Lange Syndrome, Other subheadings::Other subheadings::Other subheadings::/genetics, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn, ENFERMEDADES::enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual::síndrome de De Lange, Otros calificadores::Otros calificadores::Otros calificadores::/genética, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas

Περιγραφή αρχείου: application/pdf

Relation: Genes;13(8); https://doi.org/10.3390/genes13081413; info:eu-repo/grantAgreement/ES/PE2017-2020/PI20%2F01767; https://hdl.handle.net/11351/8779; 000846710200001

Διαθεσιμότητα: https://hdl.handle.net/11351/8779
https://doi.org/10.3390/genes13081413