المؤلفون: Rubtsova, Varvara I, Chun, Yujin, Kim, Joohwan, Ramirez, Cuauhtemoc B, Jung, Sunhee, Choi, Wonsuk, Kelly, Miranda E, Lopez, Miranda L, Cassidy, Elizabeth, Rushing, Gabrielle, Aguiar, Dean J, Lau, Wei Ling, Ahdoot, Rebecca S, Smith, Moyra, Edinger, Aimee L, Lee, Sang-Guk, Jang, Cholsoon, Lee, Gina

المصدر: iScience. 27(7)

مصطلحات موضوعية: Medical Biochemistry and Metabolomics, Analytical Chemistry, Biomedical and Clinical Sciences, Chemical Sciences, Pediatric, Cancer, Tuberous Sclerosis, Pediatric Cancer, Brain Disorders, Kidney Disease, Clinical Research, Prevention, Health Disparities, Rare Diseases, Minority Health, 4.1 Discovery and preclinical testing of markers and technologies, 2.1 Biological and endogenous factors, Renal and urogenital, Good Health and Well Being, Clinical genetics, Endocrinology, Pathophysiology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4x49x9xr
https://escholarship.org/content/qt4x49x9xr/qt4x49x9xr.pdf

المؤلفون: Fu, Jack M, Satterstrom, F Kyle, Peng, Minshi, Brand, Harrison, Collins, Ryan L, Dong, Shan, Wamsley, Brie, Klei, Lambertus, Wang, Lily, Hao, Stephanie P, Stevens, Christine R, Cusick, Caroline, Babadi, Mehrtash, Banks, Eric, Collins, Brett, Dodge, Sheila, Gabriel, Stacey B, Gauthier, Laura, Lee, Samuel K, Liang, Lindsay, Ljungdahl, Alicia, Mahjani, Behrang, Sloofman, Laura, Smirnov, Andrey N, Barbosa, Mafalda, Betancur, Catalina, Brusco, Alfredo, Chung, Brian HY, Cook, Edwin H, Cuccaro, Michael L, Domenici, Enrico, Ferrero, Giovanni Battista, Gargus, J Jay, Herman, Gail E, Hertz-Picciotto, Irva, Maciel, Patricia, Manoach, Dara S, Passos-Bueno, Maria Rita, Persico, Antonio M, Renieri, Alessandra, Sutcliffe, James S, Tassone, Flora, Trabetti, Elisabetta, Campos, Gabriele, Cardaropoli, Simona, Carli, Diana, Chan, Marcus CY, Fallerini, Chiara, Giorgio, Elisa, Girardi, Ana Cristina, Hansen-Kiss, Emily, Lee, So Lun, Lintas, Carla, Ludena, Yunin, Nguyen, Rachel, Pavinato, Lisa, Pericak-Vance, Margaret, Pessah, Isaac N, Schmidt, Rebecca J, Smith, Moyra, Costa, Claudia IS, Trajkova, Slavica, Wang, Jaqueline YT, Yu, Mullin HC, Cutler, David J, De Rubeis, Silvia, Buxbaum, Joseph D, Daly, Mark J, Devlin, Bernie, Roeder, Kathryn, Sanders, Stephan J, Talkowski, Michael E

المصدر: Nature Genetics. 54(9)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Brain Disorders, Stem Cell Research, Intellectual and Developmental Disabilities (IDD), Clinical Research, Mental Health, Human Genome, Mental Illness, Neurosciences, Autism, Schizophrenia, Pediatric, 2.1 Biological and endogenous factors, Mental health, Autism Spectrum Disorder, Autistic Disorder, DNA Copy Number Variations, Genetic Predisposition to Disease, Humans, Mutation, Autism Sequencing Consortium, Broad Institute Center for Common Disease Genomics, iPSYCH-BROAD Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/04m356rr
https://escholarship.org/content/qt04m356rr/qt04m356rr.pdf

المؤلفون: Kimonis, Virginia, Al Dubaisi, Rehab, Maclean, Andrew E, Hall, Kathy, Weiss, Lan, Stover, Alexander E, Schwartz, Philip H, Berg, Bethany, Cheng, Cheng, Parikh, Sumit, Conner, Blair R, Wu, Sitao, Hasso, Anton N, Scott, Daryl A, Koenig, Mary Kay, Karam, Rachid, Tang, Sha, Smith, Moyra, Chao, Elizabeth, Balk, Janneke, Hatchwell, Eli, Eis, Peggy S

المصدر: Journal of medical genetics. 58(5)

مصطلحات موضوعية: Brain, Humans, Mitochondrial Diseases, Mitochondrial Proteins, Magnetic Resonance Imaging, Pedigree, DNA Mutational Analysis, Adolescent, Child, Female, Male, Young Adult, Whole Exome Sequencing, RNA-Seq, clinical genetics, metabolic disorders, molecular genetics, neurology, Rare Diseases, Genetics, Clinical Research, Neurodegenerative, Brain Disorders, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/33q7g6w8

المؤلفون: Smith, Moyra

مصطلحات موضوعية: Biological Sciences, Genetics, Neurosciences, Mind and Body, Intellectual and Developmental Disabilities (IDD), Behavioral and Social Science, Pediatric, Brain Disorders, Mental Health, Generic health relevance, transcription, translation, enhancers, chromatin, cognition, autism, epilepsy, Biochemistry and cell biology, Medical biochemistry and metabolomics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2fw1b6gq

المؤلفون: Ham, Michelle, Han, Julia, Osann, Kathryn, Smith, Moyra, Kimonis, Virginia

مصطلحات موضوعية: Humans, Optic Atrophy, Autosomal Dominant, GTP Phosphohydrolases, Mutation, Adolescent, Adult, Aged, Middle Aged, Child, Child, Preschool, Infant, Infant, Newborn, Female, Male, Young Adult, Genetic Association Studies, Ataxia, Autosomal dominant, Genotype/phenotype, Hearing loss, Meta-analysis, Mitochondria, Myopathy, OPA1, Optic atrophy, Rare Diseases, Genetics, Neurosciences, Clinical Research, Eye Disease and Disorders of Vision, Eye, Biochemistry & Molecular Biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/67v3x4dm

المؤلفون: Smith, Moyra, Flodman, Pamela L

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Biotechnology, Generic health relevance, enhancers, transcription, domains, modifications malformations, enhancer, epigenetic, malformation, structural damage, Biochemistry and cell biology, Medical biochemistry and metabolomics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2nc7p31n

المؤلفون: Smith, Moyra

المصدر: Frontiers in Molecular Biosciences. 4(MAY)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Human Genome, Biotechnology, Genetic Testing, Precision Medicine, 2.1 Biological and endogenous factors, Generic health relevance, Cancer, Good Health and Well Being, nucleic acid sequencing, rare diseases, common diseases, pharmacogenetics, cancer diagnosis, Biochemistry and cell biology, Medical biochemistry and metabolomics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4bj539z4
https://escholarship.org/content/qt4bj539z4/qt4bj539z4.pdf

المؤلفون: Fu, Jack, Satterstrom, F. Kyle, Peng, Minshi, Brand, Harrison, Collins, Ryan, Dong, Shan, Wamsley, Brie, Klei, Lambertus, Wang, Lily, Hao, Stephanie, Stevens, Christine, Cusick, Caroline, Babadi, Mehrtash, Banks, Eric, Collins, Brett, Dodge, Sheila, Gabriel, Stacey, Gauthier, Laura, Lee, Samuel, Liang, Lindsay, Ljungdahl, Alicia, Mahjani, Behrang, Sloofman, Laura, Smirnov, Andrey, Barbosa, Mafalda, Betancur, Catalina, Brusco, Alfredo, Chung, Brian, Cook, Edwin, Cuccaro, Michael, Domenici, Enrico, Ferrero, Giovanni Battista, Gargus, J. Jay, Herman, Gail, Hertz-Picciotto, Irva, Maciel, Patricia, Manoach, Dara, Passos-Bueno, Maria Rita, Persico, Antonio, Renieri, Alessandra, Sutcliffe, James, Tassone, Flora, Trabetti, Elisabetta, Campos, Gabriele, Cardaropoli, Simona, Carli, Diana, Chan, Marcus, Fallerini, Chiara, Giorgio, Elisa, Girardi, Ana Cristina, Hansen-Kiss, Emily, Lee, So Lun, Lintas, Carla, Ludena, Yunin, Nguyen, Rachel, Pavinato, Lisa, Pericak-Vance, Margaret, Pessah, Isaac, Schmidt, Rebecca, Smith, Moyra, Costa, Claudia, Trajkova, Slavica, Wang, Jaqueline, Yu, Mullin, Cutler, David, de Rubeis, Silvia, Buxbaum, Joseph, Daly, Mark, Devlin, Bernie, Roeder, Kathryn, Sanders, Stephan, Talkowski, Michael

المساهمون: Massachusetts General Hospital Boston, Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School Boston (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital Boston, Carnegie Mellon University Pittsburgh (CMU), Harvard Medical School Boston (HMS), University of California San Francisco (UC San Francisco), University of California (UC), University of California Los Angeles (UCLA), University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE), Icahn School of Medicine at Mount Sinai New York (MSSM), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), 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, The University of Hong Kong (HKU), University of Illinois Chicago (UIC), University of Illinois System, University of Miami Leonard M. Miller School of Medicine (UMMSM), Università degli Studi di Trento = University of Trento (UNITN), University of California Irvine (UC Irvine), Nationwide Children's Hospital, University of California Davis (UC Davis), Universidade do Minho = University of Minho Braga, Massachusetts General Hospital Boston, MA, USA, Escola Politecnica da Universidade de Sao Paulo Sao Paulo, Università degli Studi di Messina = University of Messina (UniMe), Università degli Studi di Siena = University of Siena (UNISI), Azienda Ospedaliera Universitaria Senese, Vanderbilt University Nashville, Vanderbilt University School of Medicine Nashville, Università degli studi di Verona = University of Verona (UNIVR), University of Texas Health Science Center, The University of Texas Health Science Center at Houston (UTHealth), Università Campus Bio-Medico di Roma / University Campus Bio-Medico of Rome (UCBM), Emory University School of Medicine, Emory University Atlanta, GA, Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Autism Sequencing Consortium (ASC), Broad Institute Center for Common Disease Genomics (Broad-CCDG), iPSYCH-BROAD Consortium : Branko Aleksic, Mykyta Artomov, Elisa Benetti, Monica Biscaldi-Schafer, Anders D Børglum, Angel Carracedo, Andreas G Chiocchetti, Hilary Coon, Ryan N Doan, Montserrat Fernández-Prieto, Christine M Freitag, Sherif Gerges, Stephen Guter, David M Hougaard, Christina M Hultman, Suma Jacob, Miia Kaartinen, Alexander Kolevzon, Itaru Kushima, Terho Lehtimäki, Caterina Lo Rizzo, Nell Maltman, Marianna Manara, Gal Meiri, Idan Menashe, Judith Miller, Nancy Minshew, Matthew Mosconi, Norio Ozaki, Aarno Palotie, Mara Parellada, Kaija Puura, Abraham Reichenberg, Sven Sandin, Stephen W Scherer, Sabine Schlitt, Lauren Schmitt, Katja Schneider-Momm, Paige M Siper, Pål Suren, John A Sweeney, Karoline Teufel, Maria Del Pilar Trelles, Lauren A Weiss, Ryan Yuen.

المصدر: ISSN: 1061-4036.

مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology

Relation: info:eu-repo/semantics/altIdentifier/pmid/35982160; PUBMED: 35982160; PUBMEDCENTRAL: PMC9653013

الاتاحة: https://inserm.hal.science/inserm-03949950
https://inserm.hal.science/inserm-03949950v1/document
https://inserm.hal.science/inserm-03949950v1/file/Fu%20Nat%20Genet%202022.pdf
https://doi.org/10.1038/s41588-022-01104-0

المؤلفون: Smith, Moyra

مصطلحات موضوعية: Animals, Genetic Variation, Genetics, Medical, Humans, animal, editorial, genetic variability, genetics, human, medical genetics, methodology, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8cm773mm

المؤلفون: Smith, Moyra

مصطلحات موضوعية: Animals, Humans, Genetics, Medical, Genetic Variation, Genetics, Medical, animal, editorial, genetic variability, genetics, human, medical genetics, methodology, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8cm773mm

المؤلفون: Smith, Moyra, Flodman, Pamela L., Gargus, John J., Simon, Mariella T, Verrell, Kimberley, Haas, Richard, Reiner, Gail E., Naviaux, Robert, Osann, Katherine, Spence, M. Anne, Wallace, Douglas C.

المصدر: Biochimica et biophysica acta. 1817(10)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4wh2p4kb

المؤلفون: Smith, Moyra, Spence, M Anne, Flodman, Pamela

المصدر: Annals of the New York Academy of Sciences. 1151(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Biotechnology, Pediatric, Autism, Neurosciences, Mental Health, Human Genome, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Autistic Disorder, Cell Nucleus, DNA, Mitochondrial, Genome, Human, Genome, Mitochondrial, Humans, Microarray Analysis, Nuclear Proteins, autism, genome, mitochondria, dosage changes, copy number, copy number variation, twins, Copy number, Copy number variation, Dosage changes, Genome, Mitochondria, Twins, aminobutyric acid A receptor, aminobutyric acid B receptor, cadherin, cell nucleus DNA, contactin, fragile X mental retardation protein, glutamate receptor, glutamate receptor 6, glutamate receptor ionotropic delta 1, metabotropic receptor, mitochondrial DNA, n methyl dextro aspartic acid receptor 2A, neurexin, neuroligin, protocadherin, unclassified drug, chromosome 15q, chromosome 19q, chromosome deletion, chromosome duplication, DNA structure, environmental factor, gene cluster, gene dosage, gene frequency, gene interaction, gene location, gene locus, gene mapping, gene sequence, gene structure, genetic analysis, genetic risk, genetic variability, genomic instability, hemizygosity, human, karyotype 47, XYY, Klinefelter syndrome, microarray analysis, monozygotic twins, nerve, nerve cell, nerve cell differentiation, nerve function, pathogenesis, review, sequence homology, sex difference, single nucleotide polymorphism, synapse, tuberous sclerosis, Turner syndrome, X chromosome, Y chromosome, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8vq3278q
https://escholarship.org/content/qt8vq3278q/qt8vq3278q.pdf

المؤلفون: Smith, Moyra

المصدر: Annals of the New York Academy of Sciences. 1151(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Sexually Transmitted Infections, Biotechnology, Stem Cell Research, Schizophrenia, Mental Illness, Human Genome, Mental Health, Brain Disorders, Infectious Diseases, 2.1 Biological and endogenous factors, Good Health and Well Being, Animals, Central Nervous System Diseases, Epigenesis, Genetic, Genetic Variation, Genetics, Medical, Humans, human genome, copy number variant or variation, schizophrenia, microRNA, epigenetics, pluripotent stem cell, sexual differentiation, Duffy antigen, malaria, HIV-AIDS, Copy number variant or variation, Epigenetics, Human genome, Malaria, MicroRNA, Pluripotent stem cell, Sexual differentiation, beta defensin, Human immunodeficiency virus antigen, acquired immune deficiency syndrome, Africa, antigen function, blood group Duffy system, cell nucleus, central nervous system function, chromatin, chromatin assembly and disassembly, chromosome 22q, chromosome analysis, chromosome deletion, DNA methylation, DNA polymorphism, gene expression, gene locus, genetic association, genetic epistasis, genetic risk, genetic susceptibility, genetic variability, heredity, human, human genome project, Human immunodeficiency virus infection, immune response, incidence, mental patient, oocyte, pathogenesis, psoriasis, review, sex differentiation, somatic cell, true hermaphroditism, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1w69p3vt
https://escholarship.org/content/qt1w69p3vt/qt1w69p3vt.pdf

المؤلفون: Szatmari, Peter, Paterson, Andrew D, Zwaigenbaum, Lonnie, Roberts, Wendy, Brian, Jessica, Liu, Xiao-Qing, Vincent, John B, Skaug, Jennifer L, Thompson, Ann P, Senman, Lili, Feuk, Lars, Qian, Cheng, Bryson, Susan E, Jones, Marshall B, Marshall, Christian R, Scherer, Stephen W, Vieland, Veronica J, Bartlett, Christopher, Mangin, La Vonne, Goedken, Rhinda, Segre, Alberto, Pericak-Vance, Margaret A, Cuccaro, Michael L, Gilbert, John R, Wright, Harry H, Abramson, Ruth K, Betancur, Catalina, Bourgeron, Thomas, Gillberg, Christopher, Leboyer, Marion, Buxbaum, Joseph D, Davis, Kenneth L, Hollander, Eric, Silverman, Jeremy M, Hallmayer, Joachim, Lotspeich, Linda, Sutcliffe, James S, Haines, Jonathan L, Folstein, Susan E, Piven, Joseph, Wassink, Thomas H, Meyer, Kacie J, Sheffield, Val, Geschwind, Daniel H, Bucan, Maja, Brown, W Ted, Cantor, Rita M, Constantino, John N, Gilliam, T Conrad, Herbert, Martha, LaJonchere, Clara, Ledbetter, David H, Lese-Martin, Christa, Miller, Janet, Nelson, Stan, Samango-Sprouse, Carol A, Spence, Sarah, State, Matthew, Tanzi, Rudolph E, Coon, Hilary, Dawson, Geraldine, Devlin, Bernie, Estes, Annette, Flodman, Pamela, Klei, Lambertus, McMahon, William M, Minshew, Nancy, Munson, Jeff, Korvatska, Elena, Rodier, Patricia M, Schellenberg, Gerard D, Smith, Moyra, Spence, M Anne, Stodgell, Chris, Tepper, Ping Guo, Wijsman, Ellen M, Yu, Chang-En, Rogé, Bernadette, Mantoulan, Carine, Wittemeyer, Kerstin, Poustka, Annemarie, Felder, Bärbel, Klauck, Sabine M, Schuster, Claudia, Poustka, Fritz, Bölte, Sven, Feineis-Matthews, Sabine, Herbrecht, Evelyn, Schmötzer, Gabi, Tsiantis, John, Papanikolaou, Katerina, Maestrini, Elena, Bacchelli, Elena, Blasi, Francesca, Carone, Simona, Toma, Claudio, Van Engeland, Herman, de Jonge, Maretha, Kemner, Chantal, Koop, Frederieke

المصدر: Nature Genetics. 39(3)

مصطلحات موضوعية: Biological Sciences, Genetics, Autism, Pediatric, Human Genome, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Mental Health, Autistic Disorder, Chromosome Aberrations, Chromosome Mapping, Family, Female, Genetic Linkage, Genetic Predisposition to Disease, Genetic Testing, Genetic Variation, Humans, Lod Score, Male, Risk Factors, Autism Genome Project Consortium, glutamic acid, neurexin, neuroligin, adult, analytical equipment, article, autism, chromosome 11p, chromosome rearrangement, controlled study, family, female, gene locus, gene mapping, genetic analysis, genetic linkage, genetic risk, genetic variability, human, major clinical study, male, microarray analysis, priority journal, sample size, single nucleotide polymorphism, synaptogenesis, Genetic Screening, Linkage, Variation, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9s05v2sn
https://escholarship.org/content/qt9s05v2sn/qt9s05v2sn.pdf

المؤلفون: Autism Genome Project Consortium, Szatmari, Peter, Paterson, Andrew D, Zwaigenbaum, Lonnie, Roberts, Wendy, Brian, Jessica, Liu, Xiao-Qing, Vincent, John B, Skaug, Jennifer L, Thompson, Ann P, Senman, Lili, Feuk, Lars, Qian, Cheng, Bryson, Susan E, Jones, Marshall B, Marshall, Christian R, Scherer, Stephen W, Vieland, Veronica J, Bartlett, Christopher, Mangin, La Vonne, Goedken, Rhinda, Segre, Alberto, Pericak-Vance, Margaret A, Cuccaro, Michael L, Gilbert, John R, Wright, Harry H, Abramson, Ruth K, Betancur, Catalina, Bourgeron, Thomas, Gillberg, Christopher, Leboyer, Marion, Buxbaum, Joseph D, Davis, Kenneth L, Hollander, Eric, Silverman, Jeremy M, Hallmayer, Joachim, Lotspeich, Linda, Sutcliffe, James S, Haines, Jonathan L, Folstein, Susan E, Piven, Joseph, Wassink, Thomas H, Sheffield, Val, Geschwind, Daniel H, Bucan, Maja, Brown, W Ted, Cantor, Rita M, Constantino, John N, Gilliam, T Conrad, Herbert, Martha, Lajonchere, Clara, Ledbetter, David H, Lese-Martin, Christa, Miller, Janet, Nelson, Stan, Samango-Sprouse, Carol A, Spence, Sarah, State, Matthew, Tanzi, Rudolph E, Coon, Hilary, Dawson, Geraldine, Devlin, Bernie, Estes, Annette, Flodman, Pamela, Klei, Lambertus, McMahon, William M, Minshew, Nancy, Munson, Jeff, Korvatska, Elena, Rodier, Patricia M, Schellenberg, Gerard D, Smith, Moyra, Spence, M Anne, Stodgell, Chris, Tepper, Ping Guo, Wijsman, Ellen M, Yu, Chang-En, Rogé, Bernadette, Mantoulan, Carine, Wittemeyer, Kerstin, Poustka, Annemarie, Felder, Bärbel, Klauck, Sabine M, Schuster, Claudia, Poustka, Fritz, Bölte, Sven, Feineis-Matthews, Sabine, Herbrecht, Evelyn, Schmötzer, Gabi, Tsiantis, John, Papanikolaou, Katerina, Maestrini, Elena, Bacchelli, Elena, Blasi, Francesca, Carone, Simona, Toma, Claudio, Van Engeland, Herman, de Jonge, Maretha, Kemner, Chantal, Koop, Frederieke

المصدر: Nature genetics. 39(3)

مصطلحات موضوعية: Autism Genome Project Consortium, Humans, Chromosome Aberrations, Genetic Predisposition to Disease, Risk Factors, Chromosome Mapping, Family, Autistic Disorder, Lod Score, Female, Male, Genetic Variation, Genetic Testing, Genetic Linkage, Intellectual and Developmental Disabilities (IDD), Pediatric Research Initiative, Human Genome, Pediatric, Brain Disorders, Genetics, Autism, Mental Health, glutamic acid, neurexin, neuroligin, adult, analytical equipment, article, autism, chromosome 11p, chromosome rearrangement, controlled study, family, female, gene locus, gene mapping, genetic analysis, genetic linkage, genetic risk, genetic variability, human, major clinical study, male, microarray analysis, priority journal, sample size, single nucleotide polymorphism, synaptogenesis, Genetic Screening, Linkage, Variation, Developmental Biology, Biological Sciences, Medical and Health Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9s05v2sn

المؤلفون: McMichael, Brian, Frank, Jennifer, Armstrong, Caren, Lenahan, Patricia, Sun, Grace, Shapiro, Johanna, Mourra, Sarah, Chun, Daniel, Hoopes, Dan, Blaschko, Sarah, Kaiser, Meghann, Calderwood, Stanley, Christina Irvin, Christina, Colt, Henri, Kahn, Akiva Kahn, Millay, Vicky, Teet, Jaroslava, Lubliner, Erica, Keslerwest, Richard, Chan, Sheila Chan, Smith, Moyra

مصطلحات موضوعية: School of Medicine Dean’s Office, Office of Educational Affairs, Office of Admissions

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/03k7m396

المؤلفون: Swanson, James, Oosterlaan, Jaap, Murias, Michael, Schuck, Sabrina, Flodman, Pamela, Spence, M. Anne, Wasdell, Michael, Ding, Yuanchun, Chi, Han-Chang, Smith, Moyra, Mann, Miranda, Carlson, Caryn, Kennedy, James L., Sergeant, Joseph A., Leung, Patrick, Zhang, Ya-Ping, Sadeh, Avi, Chen, Chuansheng, Whalen, Carol K., Babb, Kimberley A., Moyzis, Robert, Posner, Michael I.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2000 Apr . 97(9), 4754-4759.

URL الوصول: https://www.jstor.org/stable/122464

المؤلفون: Wassink, Thomas H, Piven, Joseph, Vieland, Veronica J, Jenkins, Laura, Frantz, Rebecca, Bartlett, Christopher W, Goedken, Rhinda, Childress, Deb, Spence, M Anne, Smith, Moyra, Sheffield, Val C

المصدر: American Journal of Medical Genetics Part B Neuropsychiatric Genetics, vol 136B. (1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Pediatric, Neurosciences, Brain Disorders, Mental Health, Clinical Research, Genetic Testing, Autism, 2.1 Biological and endogenous factors, Mental health, ADP-Ribosylation Factors, Amino Acid Sequence, Autistic Disorder, Chromosome Deletion, Chromosomes, Human, Pair 2, DNA Mutational Analysis, Family Health, Female, GTPase-Activating Proteins, Genetic Linkage, Genetic Predisposition to Disease, Genotype, Humans, Lod Score, Male, Microsatellite Repeats, Mutation, Polymorphism, Genetic, Sequence Homology, Amino Acid, Telomere, linkage, linkage disequilibrium, autistic disorder, chromosomal abnormalities, Autistic disorder, Chromosomal abnormalities, Linkage, Linkage disequilibrium, arginine, glycine, serine, amino acid substitution, article, autism, CENTG2 gene, chromosome 2q, developmental disorder, DNA polymorphism, fluorescence in situ hybridization, gene, gene deletion, gene linkage disequilibrium, genetic analysis, genetic linkage, genetic susceptibility, genotype, human, priority journal, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9m33n261
https://escholarship.org/content/qt9m33n261/qt9m33n261.pdf

المؤلفون: Ramanathan, Subhadra, Woodroffe, Abigail, Flodman, Pamela L, Mays, Lee Z, Hanouni, Mona, Modahl, Charlotte B, Steinberg-Epstein, Robin, Bocian, Maureen E, Spence, M Anne, Smith, Moyra

المصدر: BMC medical genetics. 5(1)

مصطلحات موضوعية: Chromosomes, Human, Pair 4, Humans, Language Disorders, Chromosome Deletion, Receptors, Neuropeptide Y, Receptors, Neurotransmitter, Receptors, AMPA, Receptors, Glycine, Protein Subunits, Genetic Markers, Cytogenetic Analysis, Autistic Disorder, Microsatellite Repeats, Polymorphism, Genetic, Infant, Male, Chromosomes, Human, Pair 4, Receptors, Neuropeptide Y, Neurotransmitter, AMPA, Glycine, Polymorphism, Genetic, DNA, glutamate receptor, glutamate receptor 2, glycine receptor, neuropeptide receptor, neuropeptide Y, neuropeptide Y1 receptor, neuropeptide Y5 receptor, neurotransmitter receptor, receptor subunit, article, autism, brain development, case report, child, chromosome 4q, chromosome analysis, communication disorder, compulsion, developmental disorder, DNA sequence, environmental factor, family study, gene expression, gene function, gene identification, genetic association, genetic code, genetic polymorphism, hemizygosity, heredity, hippocampus, human, human cell, inheritance, interstitial chromosome deletion, karyotype 46, XY, learning, memory, motor dysfunction, nerve cell plasticity, phenotype, sequence analysis, social interaction, Genetics & Heredity, Genetics, Clinical Sciences, karyotype 46, XY

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0b74b17h

المؤلفون: Devlin, Bernie, Bennett, Pamela, Dawson, Geraldine, Figlewicz, Denise A, Grigorenko, Elena L, McMahon, William, Minshew, Nancy, Pauls, David, Smith, Moyra, Spence, M Anne, Rodier, Patricia M, Stodgell, Chris, Schellenberg, Gerard D

المصدر: American Journal of Medical Genetics Part B Neuropsychiatric Genetics, vol 126B. (1)

مصطلحات موضوعية: Biological Sciences, Genetics, Mental Health, Autism, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Pediatric, 2.1 Biological and endogenous factors, Alleles, Autistic Disorder, Case-Control Studies, Cell Adhesion Molecules, Neuronal, Extracellular Matrix Proteins, Genetic Predisposition to Disease, Humans, Linkage Disequilibrium, Nerve Tissue Proteins, Reelin Protein, Serine Endopeptidases, Trinucleotide Repeats, autism, Reelin, language development, genetic association, autistic disorder, CPEA Genetics Network, Autistic disorder, Genetic association, Language development, cytosine, guanine, reelin, age, allele, article, child, chromosome 7q, controlled study, family, genetic linkage, genetic polymorphism, human, major clinical study, priority journal, start codon, trinucleotide repeat, Clinical Sciences, Neurosciences, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7td237rb
https://escholarship.org/content/qt7td237rb/qt7td237rb.pdf