المؤلفون: Renzo Guerrini, Ghayda M. Mirzaa, William B. Dobyns, Sarah Collins, Carissa Olds, Maha S. Zaki, Andrew E. Timms, David H. Ledbetter, Conti, M. E. Ross, Elena Parrini, Di Donato N, Candace T. Myers, James T. Bennett, Gemma L. Carvill, Sara Chiari, Kimberly A. Aldinger, Joseph G. Gleeson, Andreas Rump, Jean-Baptiste Rivière, Davide Mei

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: Male, 0301 basic medicine, DNA Mutational Analysis, TUBG1, Lissencephaly, Classical Lissencephalies and Subcortical Band Heterotopias, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, medicine, Humans, Mutation frequency, Gene, Genetic Association Studies, Genetics (clinical), Genetics, reelinopathy, TUBB3, actinopathy, ACTG1, Pachygyria, Brain, medicine.disease, tubulinopathy, Reelin Protein, 030104 developmental biology, Mutation, Cohort, Female, 030217 neurology & neurosurgery, subcortical band heterotopia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2178f503c62a70bd865a8017afd1c554Test
https://doi.org/10.1038/gim.2018.8Test

المؤلفون: Renzo Guerrini, Ghayda M. Mirzaa, Sara Chiari, A. James Barkovich, William B. Dobyns, Elena Parrini, Carissa Olds, Nataliya Di Donato, Kimberly A. Aldinger

المصدر: American journal of medical genetics. Part A. 173(6)

مصطلحات موضوعية: 0301 basic medicine, Adult, Doublecortin Domain Proteins, Male, medicine.medical_specialty, Doublecortin Protein, Adolescent, Genetic counseling, Lissencephaly, Classical Lissencephalies and Subcortical Band Heterotopias, Article, 03 medical and health sciences, PAFAH1B1, Young Adult, 0302 clinical medicine, Molecular genetics, SUBCORTICAL BAND HETEROTOPIA, Genetics, medicine, Humans, Child, Genetics (clinical), Genetic testing, Cerebral Cortex, medicine.diagnostic_test, business.industry, Pachygyria, Neuropeptides, Infant, Newborn, Infant, medicine.disease, Magnetic Resonance Imaging, 030104 developmental biology, Heterotopia (medicine), Phenotype, Child, Preschool, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Mutation, Female, business, Neuroscience, Microtubule-Associated Proteins, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b4f35dd0aada3fe5ae14737ddb576adTest
https://pubmed.ncbi.nlm.nih.gov/28440899Test

المؤلفون: Steven Gottlieb, Kevin A. Strauss, Rachel M. Johnson, Kathleen J. Millen, Ying Y. Jean, Deborah Bartholdi, Karlla W. Brigatti, Erik G. Puffenberger, A. Murat Maga, Agnieszka M. Czaja, Sarah Collins, Carol M. Troy, Amy Goldstein, Anke Nissen, Jessi A. Stover, Carissa Olds, Alison B. Shupp, Achira Roy, Ghayda M. Mirzaa, Robert N. Jinks, Rebecca A. Willert, Kimberly A. Aldinger, Briana D. Krewson, Victoria Boyd-Kyle, William B. Dobyns, Maria I. Avrutsky, Nataliya Di Donato, Anita Rauch

المساهمون: University of Zurich, Di Donato, Nataliya

المصدر: Di Donato, Nataliya; Jean, Ying Y; Maga, A Murat; Krewson, Briana D; Shupp, Alison B; Avrutsky, Maria I; Roy, Achira; Collins, Sarah; Olds, Carissa; Willert, Rebecca A; Czaja, Agnieszka M; Johnson, Rachel; Stover, Jessi A; Gottlieb, Steven; Bartholdi, Deborah; Rauch, Anita; Goldstein, Amy; Boyd-Kyle, Victoria; Aldinger, Kimberly A; Mirzaa, Ghayda M; ... (2016). Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. American journal of human genetics, 99(5), pp. 1117-1129. Cell Press 10.1016/j.ajhg.2016.09.010 <http://dx.doi.org/10.1016/j.ajhg.2016.09.010Test>

مصطلحات موضوعية: 0301 basic medicine, 10039 Institute of Medical Genetics, Apoptosis, PC12 Cells, Mice, 0302 clinical medicine, Cognition, Neurotrophic factors, Ethnicity, pachygyria, Genetics(clinical), Megalencephaly, Cloning, Molecular, 610 Medicine & health, Genetics (clinical), Genetics, Mice, Knockout, Neurons, Neocortex, biology, Caspase 2, CRADD Signaling Adaptor Protein, Cysteine Endopeptidases, medicine.anatomical_structure, intellectual disability, Lissencephaly, Signal Transduction, Programmed cell death, 2716 Genetics (clinical), Cell Survival, mouse model, Genes, Recessive, Article, 03 medical and health sciences, 1311 Genetics, medicine, Animals, Humans, Immunoprecipitation, Death domain, MCD, Amyloid beta-Peptides, Pachygyria, malformation of cortical development, Dendritic Cells, medicine.disease, neurodevelopmental disorder, Rats, Mice, Inbred C57BL, 030104 developmental biology, HEK293 Cells, Mutation, biology.protein, epilepsy, 570 Life sciences, Neuroscience, 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: Di_Donato_et_al,_Mutations_in_CRADDS_Result_in.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72907a7a4491db966d4dd84abd92358fTest
https://www.zora.uzh.ch/id/eprint/133429Test/

المؤلفون: Lim Jiin Yin, Beth Martin, Mark J. Stephan, Mariana Aracena, Cynthia J. Curry, Inge Krägeloh-Mann, Karen W. Gripp, Koenraad Devriendt, Michael Painter, Livia Garavelli, William B. Dobyns, Rachel Straussberg, Agustina Lanoel, Marie-Claude Addor, Margaret L. McKinnon, Luigi Boccuto, John Graham, Katrina Tatton-Brown, James D. Reggin, Jay Shendure, Colin C. Pritchard, Charles E. Schwartz, Mary Ella M Pierpont, Ian A. Glass, Fiona Stewart, Sulagna C. Saitta, Angeline Hwei Meeng Lai, Evan A. Boyle, Erin Torti, Anne Goriely, Michael T. Gabbett, Melanie Napier, Nicole Martin, Melissa T. Carter, Lisa Worgan, Renzo Guerrini, Katta M. Girisha, Ghayda M. Mirzaa, Chitra Prasad, Rachael Bradshaw, Leah W. Burke, Martin Kircher, Hulya Kayserilli, Andrew E. Timms, Jane Juusola, Karen D. Tsuchiya, Catherine E. Keegan, Robert L. Conway, David Chitayat, Kaylee Park, Hilde Van Esch, Aditi Shah Parikh, Maria R. Cordisco, Valerio Conti, Sondhya Ghedia, Raoul C.M. Hennekam, Sarah Collins, Bridget C. O’Connor, Stephen R. Braddock, Carissa Olds

المساهمون: ANS - Complex Trait Genetics, APH - Amsterdam Public Health, Paediatric Genetics

المصدر: JCI insight, vol. 1, no. 9, pp. 18p.
JCI insight, 1(9). The American Society for Clinical Investigation
Paediatrics Publications
JCI Insight

مصطلحات موضوعية: 0301 basic medicine, Genetics, Sanger sequencing, Somatic cell, Class I Phosphatidylinositol 3-Kinases/genetics, Female, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Humans, Infant, Male, Malformations of Cortical Development/genetics, Mosaicism, Mutation, Phenotype, Tissue Distribution, Vascular Malformations/genetics, General Medicine, Biology, Molecular biology, 3. Good health, Variable Expression, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, Targeted ngs, symbols, Amplicon sequencing, Tissue distribution, Class I Phosphatidylinositol 3-Kinases, neoplasms, Research Article

وصف الملف: application/pdf; Print

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e277962199864ba9a67d6d7a87cffb7Test
https://serval.unil.ch/notice/serval:BIB_4CC9606A7F29Test

المؤلفون: Carleton Goold, Nadia Solovieff, William B. Dobyns, Richard A. Gibbs, Elisa Rahikkala, Jonathan D. Biag, Colleen F. Macmurdo, Eric Boerwinkle, Sonya A. Gunter, Sandra L. Poliachik, Brian H.Y. Chung, Christine D. Wilson, Evan A. Boyle, Scott Mahan, Robert F. Hevner, Russell P. Saneto, Katta M. Girisha, Rebecca Leary, Wendy Winckler, Molly Weaver, Sharon S. McDaniel, Jay Shendure, Laura A. Jansen, Shanming Liu, Shalini N. Jhangiani, Andrew E. Timms, William R. Sellers, Gisele Ishak, Michael Morrissey, Michael O. Dorschner, Donna M. Muzny, Catarina D. Campbell, Jeffrey G. Ojemann, Beth Martin, Edward J. Novotny, Renzo Guerrini, Ghayda M. Mirzaa, Leon Murphy, Valerio Conti, Jonathan A. Bernstein, James R. Lupski, Sarah Collins, Suchithra Menon, Carissa Olds, Kit San Yeung

المصدر: JAMA neurology. 73(7)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Hemimegalencephaly, Pathology, medicine.medical_specialty, Adolescent, Developmental Disabilities, Neurogenetics, Nerve Tissue Proteins, Biology, Mechanistic Target of Rapamycin Complex 1, medicine.disease_cause, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, medicine, Animals, Humans, Megalencephaly, Amino Acids, Child, Exome sequencing, Cells, Cultured, Genetic Association Studies, Retrospective Studies, Cerebral Cortex, Neurons, Mutation, Mosaicism, TOR Serine-Threonine Kinases, Macrocephaly, Cortical dysplasia, medicine.disease, Embryo, Mammalian, Rats, Malformations of Cortical Development, 030104 developmental biology, Gene Expression Regulation, Child, Preschool, Multiprotein Complexes, Intercellular Signaling Peptides and Proteins, Female, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c7d0a49983a07e254d5281c050e787fTest
https://pubmed.ncbi.nlm.nih.gov/27158974Test

المؤلفون: Alma Kuechler, Susan Sell, Karl Hackmann, Evelin Schröck, William B. Dobyns, Sabiha Merchant, Janine Altmüller, Sarah Collins, Nina Bögershausen, Galen N. Breningstall, Samantha A. Schrier Vergano, Wolfram Heinritz, Roger L. Ladda, Joann Bodurtha, Andrew E. Timms, Carissa Olds, Nataliya Di Donato, Andreas Rump

المصدر: American journal of medical genetics. Part A. 170(10)

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Heterozygote, Craniofacial abnormality, DNA Mutational Analysis, Medizin, Mutation, Missense, Lissencephaly, 030105 genetics & heredity, Craniofacial Abnormalities, 03 medical and health sciences, Genetics, medicine, Missense mutation, Humans, Abnormalities, Multiple, Exome, Genetics (clinical), Exome sequencing, Genetic Association Studies, ACTG1, business.industry, Pachygyria, Brain, Facies, High-Throughput Nucleotide Sequencing, Infant, medicine.disease, Magnetic Resonance Imaging, Actins, 030104 developmental biology, Phenotype, Child, Preschool, Cohort, Female, business, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6282c444c8438d536bc7259b264c9acaTest
https://pubmed.ncbi.nlm.nih.gov/27240540Test

المؤلفون: Melissa T. Carter, Ed Blair, Evan A. Boyle, Yoko Narumi-Kishimoto, Sarah Ahmed, Lorenzo Tattini, Sarah Collins, Davide Mei, Patrick Nitschke, Jamel Chelly, Valerio Conti, Amy Goldstein, Renzo Guerrini, Ghayda M. Mirzaa, Allison L. Goetsch, Kathreen Johnston, Jay Shendure, Catharine Harris, Carissa Olds, Christopher Barnett, Kathryn Friend, Andrew E. Timms, Beth Martin, Anne Slavotinek, Jean-François Deleuze, Elena Parrini, William B. Dobyns, Christopher D. Smyser, Robert B. Hufnagel, Sarah Barnett

المصدر: The Lancet. Neurology

مصطلحات موضوعية: Adolescent, Population, DNA Mutational Analysis, Biology, Bioinformatics, medicine.disease_cause, DNA sequencing, Article, MPPH syndrome, 03 medical and health sciences, Young Adult, Phosphatidylinositol 3-Kinases, 0302 clinical medicine, Intellectual Disability, Polymicrogyria, medicine, megalencephaly, Missense mutation, Humans, Abnormalities, Multiple, Congenital bilateral perisylvian syndrome, polymicrogyria, education, Child, 030304 developmental biology, Genetic testing, Genetics, 0303 health sciences, education.field_of_study, Mutation, medicine.diagnostic_test, Infant, PIK3R2, medicine.disease, Perisylvian polymicrogyria, 3. Good health, Malformations of Cortical Development, mosaicism, Child, Preschool, Neurology (clinical), 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c66ec8ac85ea80df7329186701612185Test
https://zenodo.org/record/889954Test