المؤلفون: Yilmaz, Feyza, Gurusamy, Umamaheswaran, Mosley, Trenell J, Hallast, Pille, Kim, Kwondo, Mostovoy, Yulia, Purcell, Ryan H, Shaikh, Tamim H, Zwick, Michael E, Kwok, Pui-Yan, Lee, Charles, Mulle, Jennifer G

المصدر: Genome Medicine. 15(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Humans, Segmental Duplications, Genomic, Chromosome Mapping, Genomics, Syndrome, Haplotypes, DNA Copy Number Variations, 3q29, Structural variations, Genomic disorders, Schizophrenia, NAHR, Copy number variant(s), Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6cv3233cTest

المؤلفون: Cable, Jennifer, Purcell, Ryan H, Robinson, Elise, Vorstman, Jacob AS, Chung, Wendy K, Constantino, John N, Sanders, Stephan J, Sahin, Mustafa, Dolmetsch, Ricardo E, Shah, Bina Maniar, Thurm, Audrey, Martin, Christa L, Bearden, Carrie E, Mulle, Jennifer G

المصدر: Annals of the New York Academy of Sciences. 1506(1)

مصطلحات موضوعية: Pharmacology and Pharmaceutical Sciences, Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Autism, Pediatric, Mental Health, Neurosciences, Schizophrenia, Behavioral and Social Science, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Mental health, Congresses as Topic, Genetic Variation, Humans, Mental Disorders, Neurodevelopmental Disorders, Penetrance, Research Report, autism, autism heterogeneity, autism spectrum disorder, copy number variant, intellectual disability, neurodevelopmental disorders, neuropsychiatric disorders, polygenic risk score, rare variants, schizophrenia, 3q29 deletion, TSC, 16p11, deletion, 22q11, 16p11.2 deletion, 22q11.2 deletion, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0gx8f83gTest

المؤلفون: Feyza Yilmaz, Umamaheswaran Gurusamy, Trenell J. Mosley, Pille Hallast, Kwondo Kim, Yulia Mostovoy, Ryan H. Purcell, Tamim H. Shaikh, Michael E. Zwick, Pui-Yan Kwok, Charles Lee, Jennifer G. Mulle

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-17 (2023)

مصطلحات موضوعية: 3q29, Structural variations, Genomic disorders, Schizophrenia, NAHR, Copy number variant(s), Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/e1441505fb324218b0dd9286ccd86457Test

المؤلفون: Sanchez Russo, Rossana, Gambello, Michael J, Murphy, Melissa M, Aberizk, Katrina, Black, Emily, Burrell, T Lindsey, Carlock, Grace, Cubells, Joseph F, Epstein, Michael T, Espana, Roberto, Goines, Katrina, Guest, Ryan M, Klaiman, Cheryl, Koh, Sookyong, Leslie, Elizabeth J, Li, Longchuan, Novacek, Derek M, Saulnier, Celine A, Sefik, Esra, Shultz, Sarah, Walker, Elaine, White, Stormi Pulver, Mulle, Jennifer Gladys

المصدر: Genetics in Medicine. 23(5)

مصطلحات موضوعية: Biological Sciences, Genetics, Clinical Research, Behavioral and Social Science, Brain Disorders, Autism, Neurosciences, Pediatric, Clinical Trials and Supportive Activities, Mental Health, Intellectual and Developmental Disabilities (IDD), Aetiology, Management of diseases and conditions, 7.3 Management and decision making, 2.1 Biological and endogenous factors, Mental health, Neurological, Autism Spectrum Disorder, Child, Chromosome Deletion, Developmental Disabilities, Humans, Intellectual Disability, Psychotic Disorders, Emory 3q29 Project, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/409646r1Test

المؤلفون: Rebecca M. Pollak, Jordan E. Pincus, T. Lindsey Burrell, Joseph F. Cubells, Cheryl Klaiman, Melissa M. Murphy, Celine A. Saulnier, Elaine F. Walker, Stormi Pulver White, Jennifer G. Mulle

المصدر: Molecular Autism, Vol 13, Iss 1, Pp 1-14 (2022)

مصطلحات موضوعية: 3q29 deletion, Autism, Copy number variants, Developmental delay, Genomic disorder, Psychiatric genetics, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2040-2392Test

الوصول الحر: https://doaj.org/article/0ca839503387432397a107323f7c784fTest

المؤلفون: Alessia Bauleo, Vincenza Pace, Alberto Montesanto, Laura De Stefano, Rossella Brando, Domenica Puntorieri, Luca Cento, Maurizio Genuardi, Elena Falcone

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 4, Pp n/a-n/a (2023)

مصطلحات موضوعية: 3q29 microduplication, array‐CGH, CNV, minimal critical region, neurodevelopmental phenotypes, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/4ca09283599448118613ae8470d61672Test

المؤلفون: Tomoya Takemoto, Masayuki Baba, Kazumasa Yokoyama, Kohei Kitagawa, Kazuki Nagayasu, Yukio Ago, Kaoru Seiriki, Atsuko Hayata-Takano, Atsushi Kasai, Daisuke Mori, Norio Ozaki, Kazuhiro Takuma, Ryota Hashimoto, Hitoshi Hashimoto, Takanobu Nakazawa

المصدر: Molecular Brain, Vol 15, Iss 1, Pp 1-5 (2022)

مصطلحات موضوعية: 3q29 microdeletion, Autism spectrum disorder, Oxytocin, Paraventricular nucleus, Social behavior, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1756-6606Test

الوصول الحر: https://doaj.org/article/6e0ba469188045ff80ae72be14378861Test

المؤلفون: Guro Granerud, Torbjørn Elvsåshagen, Erik Arntzen, Katalin Juhasz, Nina Merete Emilsen, Ida Elken Sønderby, Terje Nærland, Eva Albertsen Malt

المصدر: Frontiers in Human Neuroscience, Vol 16 (2022)

مصطلحات موضوعية: autism, 3q29, stimulus equivalence, neuropsychology, MRI, EEG, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fnhum.2022.950922/fullTest; https://doaj.org/toc/1662-5161Test

الوصول الحر: https://doaj.org/article/e4f70ce7c32440ee976ed2f337d38513Test

المؤلفون: Trenell J. Mosley, H. Richard Johnston, David J. Cutler, Michael E. Zwick, Jennifer G. Mulle

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Copy number variants, Meiotic recombination, Parent of origin, 3q29 deletion, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/ee4d1dee8a6a471b8eda7c4245fbdd0aTest

المؤلفون: Massier, Marie, Doco-Fenzy, Martine, Egloff, Matthieu, Le Guillou, Xavier, Le Guyader, Gwenaël, Redon, Sylvia, Benech, Caroline, Le Millier, Karine, Uguen, Kevin, Ropars, Juliette, Sacaze, Elise, Audebert-Bellanger, Séverine, Apetrei, Andreea, Molin, Arnaud, Gruchy, Nicolas, Vincent-Devulder, Aline, Spodenkiewicz, Marta, Jacquin, Clémence, Loron, Gauthier, Thibaud, Marie, Delplancq, Geoffroy, Brisset, Sophie, Lesieur-Sebellin, Marion, Malan, Valérie, Romana, Serge, Rio, Marlène, Marlin, Sandrine, Amiel, Jeanne, Marquet, Valentine, Dauriat, Benjamin, Moradkhani, Kamran, Mercier, Sandra, Isidor, Bertrand, Arpin, Stéphanie, Pujalte, Mathilde, Jedraszak, Guillaume, Pebrel-Richard, Céline, Salaun, Gaëlle, Laffargue, Fanny, Boudjarane, John, Missirian, Chantal, Chelloug, Nora, Toutain, Annick, Chiesa, Jean, Keren, Boris, Mignot, Cyril, Gouy, Evan, Jaillard, Sylvie, Landais, Emilie, Poirsier, Céline

المساهمون: Hôpital universitaire Robert Debré Reims (CHU Reims), Laboratoire de neurosciences expérimentales et cliniques (LNEC Poitiers ), Université de Poitiers = University of Poitiers (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de mathématiques et applications UMR 7348 (LMA Poitiers ), Université de Poitiers = University of Poitiers (UP)-Centre National de la Recherche Scientifique (CNRS), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Service de Génétique CHU Caen, Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Imaging, Brain & Neuropsychiatry (iBraiN), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Amiens-Picardie, HEMATIM - Hématopoïèse et immunologie - UR UPJV 4666 (HEMATIM), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, 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 ), None

المصدر: ISSN: 1552-4825.

مصطلحات موضوعية: 3q29 duplication, chromosomal microarray analysis, copy number variation, genomic disorder, multiple molecular diagnoses, neurodevelopmental disorders, [SDV.GEN]Life Sciences [q-bio]/Genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38421086; hal-04488411; https://hal.science/hal-04488411Test; PUBMED: 38421086

الإتاحة: https://doi.org/10.1002/ajmg.a.63531Test
https://hal.science/hal-04488411Test