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المؤلفون: Kevin E.C. Meyers, Susan L. Furth, Sonya Lopez, Jessica Gold, Jacqueline Leonard, Elaine H. Zackai, Lauren Galea, Stacey Drant, Wendy Hsiao, Alanna Strong, Sandra Amaral, Nina B. Gold, Cara M. Skraban, Reed E. Pyeritz
المصدر: Am J Med Genet A
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Contracture, Adolescent, Fibrillin-2, Receptor, Transforming Growth Factor-beta Type I, Connective tissue, Smad2 Protein, Kidney, Kidney cysts, Article, Cystic kidney disease, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Congenital contractural arachnodactyly, Child, Connective Tissue Diseases, Genetics (clinical), Exome sequencing, Cystic kidney, Loeys-Dietz Syndrome, business.industry, Kidney Diseases, Cystic, medicine.disease, Connective tissue disease, Arachnodactyly, Phenotype, medicine.anatomical_structure, Connective Tissue, Mutation, Skin Abnormalities, medicine.symptom, business, Kidney disease
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المؤلفون: Ana Berta Sousa, Anneke J.A. Kievit, Marjon van Slegtenhorst, Nicholas J. Hand, Kosuke Izumi, Paula Jorge, Andrew C. Edmondson, Elisa De Franco, Linlea Armstrong, Michael E. March, Dirk Lefeber, Hans van Bokhoven, Miao He, Sian Ellard, Marina P Hommersom, Serwet Demirdas, Elaine H. Zackai, Fleur S van Dijk, Anna Lehman, Avni Santani, Daniel L. Polla, Daniel J. Rader, Arjan P.M. de Brouwer, Sandrine Duvet, Xin Bi, Sophie C. Huffels, Dmitriy Niyazov, Céline Schulz
المساهمون: Clinical Genetics, Repositório da Universidade de Lisboa
المصدر: American Journal of Human Genetics, 108(7), 1342-1349. Cell Press
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
American Journal of Human Genetics, 108, 7, pp. 1342-1349
American Journal of Human Genetics, 108, 1342-1349
Am J Hum Genetمصطلحات موضوعية: Male, Glycosylation, Mouse, Developmental Disabilities, Endoplasmic Reticulum, Compound heterozygosity, chemistry.chemical_compound, Congenital Disorders of Glycosylation, 0302 clinical medicine, EIF2AK3, Child, Genetics (clinical), Exome sequencing, 0303 health sciences, Tunicamycin, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Pedigree, Mannosidase, Child, Preschool, N-glycan, Female, Adolescent, Biology, Cell Line, 03 medical and health sciences, Polysaccharides, alpha-Mannosidase, Intellectual Disability, Report, Genetics, medicine, Humans, Proteostasis Deficiencies, Gene, Alleles, Glycoproteins, 030304 developmental biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Endoplasmic reticulum, Calcium-Binding Proteins, Infant, medicine.disease, Molecular biology, carbohydrates (lipids), Dysmorphism, chemistry, Mutation, Unfolded protein response, High-mannose, CDG, EDEM3, Congenital disorder of glycosylation, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9de7e535ef91859e8db4ea8ac1e4f021
https://doi.org/10.1016/j.ajhg.2021.05.010 -
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المؤلفون: Lauren Lulis, Jennifer L. Cohen, Jennifer Tarpinian, Sarah Mazzola, Emma Bedoukian, Katheryn Grand, Cara M. Skraban, Beth Denenberg, Matthew A. Deardorff, Leah Dowsett, Elaine H. Zackai, Addie I. Nesbitt, Avni Santani
المصدر: American Journal of Medical Genetics Part A. 185:2766-2775
مصطلحات موضوعية: Male, 0301 basic medicine, Mutation, Missense, Retinoic acid, Ulna, Disease, 030105 genetics & heredity, Bioinformatics, Compound heterozygosity, Craniosynostosis, 03 medical and health sciences, chemistry.chemical_compound, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Family, Child, Genetics (clinical), Fetus, business.industry, Homozygote, Infant, Retinoic Acid 4-Hydroxylase, medicine.disease, Conductive hearing loss, Radius, Phenotype, 030104 developmental biology, Synostosis, chemistry, Female, business
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المؤلفون: Meryl S. Cohen, David A. Stevenson, Sarah E Sheppard, Dena R. Matalon, Beth Keena, Angela E. Lin, Elizabeth J. Bhoj, Elaine H. Zackai, Avni Santani
المصدر: Am J Med Genet A
مصطلحات موضوعية: Heart Defects, Congenital, Male, Proto-Oncogene Proteins B-raf, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Cardiovascular Abnormalities, Dwarfism, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Disease, 030105 genetics & heredity, RASopathy, Short stature, Article, 03 medical and health sciences, Genetics, medicine, Humans, Child, Genetics (clinical), business.industry, Noonan Syndrome, Infant, Newborn, Hypertrophic cardiomyopathy, Facies, Infant, Cardiomyopathy, Hypertrophic, medicine.disease, Connective tissue disease, Musculoskeletal Abnormalities, Pulmonary Valve Stenosis, PTPN11, Phenotype, 030104 developmental biology, Aortic Valve, Child, Preschool, Cohort, Skin Abnormalities, ras Proteins, Noonan syndrome, Female, medicine.symptom, business
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المؤلفون: Daniel E. McGinn, Marsha Gerdes, Beverly S. Emanuel, Sean Gallagher, Terrence B. Crowley, Elaine H. Zackai, Donna M. McDonald-McGinn, Raquel E. Gur, Kosha Ruparel, Cynthia Solot, Ruben C. Gur, Monica E. Calkins, Tyler M. Moore, Edward Moss
المصدر: Am J Med Genet B Neuropsychiatr Genet
مصطلحات موضوعية: Male, 0301 basic medicine, Psychosis, Adolescent, Population, Prodromal Symptoms, 030105 genetics & heredity, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Cognition, Language assessment, DiGeorge Syndrome, medicine, Cognitive development, Humans, Speech, Child, education, Association (psychology), Genetics (clinical), Language, Intelligence Tests, education.field_of_study, Intelligence quotient, Verbal Behavior, medicine.disease, Psychiatry and Mental health, 030104 developmental biology, Psychotic Disorders, Child, Preschool, Structured interview, Schizophrenia, Female, Chromosome Deletion, Psychology, Clinical psychology
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المؤلفون: Ming Xiao, Lahari Uppuluri, Beverly S. Emanuel, Donna M. McDonald-McGinn, Daniel E. McGinn, Deanne Taylor, Benjamin A. Silva, T. Blaine Crowley, Michael Xie, Heba Z. Abid, Bernice E. Morrow, Steven Pastor, Elaine H. Zackai, Oanh Tran, Alice Bailey, Eleanor Young, Danielle Carrado, Andrea Jin
المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reportsمصطلحات موضوعية: Male, 0301 basic medicine, Chromosomes, Human, Pair 22, Non-allelic homologous recombination, lcsh:Medicine, Biology, Genome informatics, Article, 03 medical and health sciences, Segmental Duplications, Genomic, 0302 clinical medicine, DiGeorge Syndrome, Humans, Homologous Recombination, lcsh:Science, Gene, Alleles, Segmental duplication, Genome, Multidisciplinary, Genome, Human, Haplotype, Breakpoint, lcsh:R, Chromosome Mapping, Low copy repeats, 030104 developmental biology, Haplotypes, Evolutionary biology, 030220 oncology & carcinogenesis, Female, Human genome, lcsh:Q, Chromosome Deletion, Homologous recombination
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المؤلفون: Therese van Amelsvoort, Eva W.C. Chow, Marianne Bernadette van den Bree, Paul M. Thompson, Wendy R. Kates, Jacob A. S. Vorstman, Nancy J. Butcher, Julio E Villalon Reina, Clodagh M. Murphy, Eileen Daly, Ania Fiksinski, Donna M. McDonald-McGinn, Raquel E. Gur, Wanda Fremont, David Edmund Johannes Linden, Daqiang Sun, Courtney A. Durdle, Rachel K. Jonas, Hayley Moss, Kosha Ruparel, Tony J. Simon, Nicolas Crossley, J. Eric Schmitt, David R. Roalf, Michael John Owen, Kevin M. Antshel, Sanne Koops, Linda E. Campbell, Beverly S. Emanuel, Anjanibhargavi Ragothaman, Maria Jalbrzikowski, Amy Lin, Kieran C. Murphy, Maria Gudbrandsen, Anne S. Bassett, Ariana Vajdi, T. Blaine Crowley, Dmitry Isaev, Joanne L. Doherty, Boris A. Gutman, Carrie E. Bearden, Kathryn McCabe, Naomi J. Goodrich-Hunsaker, Fidel Vila-Rodriguez, Laura Pacheco-Hansen, Artemis Zavaliangos-Petropulu, Christopher R.K. Ching, Elaine H. Zackai, Geor Bakker, Jennifer K. Forsyth, Adam C. Cunningham, Gabriela M. Repetto, Leila Kushan, Declan G. Murphy, Michael C. Craig
المساهمون: RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9)
المصدر: American Journal of Psychiatry, 177(7), 589-600. American Psychiatric Publishing, Inc.
The American journal of psychiatry, vol 177, iss 7
Ching, C R K, Gutman, B A, Sun, D, Villalon Reina, J, Ragothaman, A, Isaev, D, Zavaliangos-petropulu, A, Lin, A, Jonas, R K, Kushan, L, Pacheco-hansen, L, Vajdi, A, Forsyth, J K, Jalbrzikowski, M, Bakker, G, Van Amelsvoort, T, Antshel, K M, Fremont, W, Kates, W R, Campbell, L E, Mccabe, K L, Craig, M C, Daly, E, Gudbrandsen, M, Murphy, C M, Murphy, D G, Murphy, K C, Fiksinski, A, Koops, S, Vorstman, J, Crowley, T B, Emanuel, B S, Gur, R E, Mcdonald-mcginn, D M, Roalf, D R, Ruparel, K, Schmitt, J E, Zackai, E H, Durdle, C A, Goodrich-hunsaker, N J, Simon, T J, Bassett, A S, Butcher, N J, Chow, E W C, Vila-rodriguez, F, Cunningham, A, Doherty, J, Linden, D E, Moss, H, Owen, M J, Van Den Bree, M, Crossley, N A, Repetto, G M, Thompson, P M & Bearden, C E 2020, ' Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome : Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness ', American Journal of Psychiatry, vol. 177, no. 7, pp. 589-600 . https://doi.org/10.1176/appi.ajp.2019.19060583
Am J Psychiatryمصطلحات موضوعية: Male, Neurodevelopment, Physiology, CHILDREN, Copy Number Variant, Brain mapping, Medical and Health Sciences, 0302 clinical medicine, 2.1 Biological and endogenous factors, Aetiology, Child, Psychiatry, Brain Mapping, Putamen, Mental Disorders, Brain, MOUSE MODEL, Middle Aged, Serious Mental Illness, Magnetic Resonance Imaging, Psychiatry and Mental health, medicine.anatomical_structure, Mental Health, Schizophrenia, Major depressive disorder, Female, BEHAVIOR, Adult, Psychosis, SCHIZOPHRENIA SPECTRUM, CORTEX, Adolescent, DISORDERS, Clinical Trials and Supportive Activities, Amygdala, Article, 03 medical and health sciences, Young Adult, Neuroimaging, Clinical Research, 22q11.2 Deletion Syndrome, medicine, DiGeorge Syndrome, Humans, Bipolar disorder, DOSAGE, business.industry, Psychology and Cognitive Sciences, Neurosciences, Hypertrophy, medicine.disease, 030227 psychiatry, Brain Disorders, Neuroanatomy, Psychotic Disorders, MORPHOMETRY, Case-Control Studies, VOLUME, Atrophy, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5952af50f7d053fd79cb45c547512a4a
https://doi.org/10.1176/appi.ajp.2019.19060583 -
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المؤلفون: Margaret C. Souders, Lisa D. Wiggins, Nicole F. Dowling, Naomi Meeks, Ellen R. Elias, Stuart K. Shapira, Lin H. Tian, Aimee Alexander, Laura A. Schieve, Patricia M. Dietz, Julie Hoover-Fong, Marshalyn Yeargin-Allsopp, Anne C.-H. Tsai, Arthur S. Aylsworth, Elaine H. Zackai
المصدر: Autism Res
مصطلحات موضوعية: Male, genetic structures, Autism Spectrum Disorder, Population, Family income, behavioral disciplines and activities, Article, 03 medical and health sciences, Cognition, 0302 clinical medicine, Intellectual Disability, mental disorders, Intellectual disability, medicine, Humans, 0501 psychology and cognitive sciences, Cognitive skill, Association (psychology), education, Genetics (clinical), education.field_of_study, General Neuroscience, 05 social sciences, medicine.disease, Autism spectrum disorder, Child, Preschool, Premature Birth, Autism, Female, Neurology (clinical), Psychology, 030217 neurology & neurosurgery, 050104 developmental & child psychology, Clinical psychology
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المؤلفون: Richard Webster, Meredith Wilson, Joseph T. Shieh, Deepti Gupta, Carrie L. Heike, Elizabeth J. Bhoj, David B. Everman, John P. Dahl, Hakon Hakonarson, Yuri A. Zarate, Anne Guimier, Danny E. Miller, Margaret P. Adam, Anita E. Beck, Shireen Ganapathi, Catherine M. Albert, Angela Sun, Dong Li, Tara L. Wenger, Irene Chang, Natalie Wu, Markus D. Boos, John Christodoulou, Elaine H. Zackai, Randall A. Bly, Jirat Chenbhanich, Jeanne Amiel, Cynthia J. Curry, Julie Park, William B. Dobyns, Jonathan A. Perkins
المصدر: American Journal of Medical Genetics Part A. 182:1576-1591
مصطلحات موضوعية: Adult, Male, Oncology, Premature aging, medicine.medical_specialty, Adolescent, Infantile myofibromatosis, PDGFRB, Disease, Sudden death, Receptor, Platelet-Derived Growth Factor beta, Leukoencephalopathies, Internal medicine, Genetics, Humans, Medicine, Child, Protein Kinase Inhibitors, Genetic Association Studies, Genetics (clinical), business.industry, Infant, Myofibromatosis, Imatinib, medicine.disease, Aneurysm, Pedigree, Imatinib mesylate, Overgrowth syndrome, Imatinib Mesylate, Female, business, medicine.drug
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المؤلفون: Ann Seman, Rixa Woitschach, Duygu Selcen, Divya Nair, Lauren Gunderson, Mahim Jain, Sha Tang, Giuseppe Zampino, Julien L. Marcadier, Marielle Alders, Jason Pinner, Melanie Napier, Linda Hasadsri, Marina Macchiaiolo, Alyssa Blesson, Pavel N. Pichurin, Joseph T. Alaimo, Arjan Bouman, Philippe M. Campeau, Catherine Karimov, Chitra Prasad, Anne Dieux-Coeslier, Nicole L. Bertsch, Bernd Wollnik, Janine Altmüller, Zöe Powis, Holly Dubbs, Tahsin Stefan Barakat, Gregory M. Cooper, Kristen J. Rasmussen, Perrine Brunelle, Patrick R. Blackburn, Erica D. Smith, Jeff M. Milunsky, Katja Kloth, E. Martina Bebin, Lot Snijders Blok, Knut Brockmann, Karin Weiss, Xilma R. Ortiz-Gonzalez, Danna Gal, Dong Li, Francesca Clementina Radio, Joan M. Stoler, Elaine H. Zackai, Jiddeke M. van de Kamp, Deepali N. Shinde, Huifang Yan, Thomas Smol, Alejandro Ferrer, Dagmar Weise, Baiba Lace, Deborah L. Renaud, Lauren E. Bartik, Beth Keena, Michelle L. Thompson, Carol J Saunders, Theodore G. Drivas, Elizabeth J. Bhoj, Eric T. Rush, Marco Tartaglia, Eric W. Klee, Margit Burmeister, Jingmin Wang, Jonas Denecke
المساهمون: Clinical genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Gastroenterology Endocrinology Metabolism, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Clinical Genetics
المصدر: European Journal of Human Genetics
European Journal of Human Genetics, 28(10), 1422-1431. Nature Publishing Group
European journal of human genetics, 28(10), 1422-1431. Nature Publishing Group
Paediatrics Publications
Drivas, T G, Li, D, Nair, D, Alaimo, J T, Alders, M, Altmüller, J, Barakat, T S, Bebin, E M, Bertsch, N L, Blackburn, P R, Blesson, A, Bouman, A M, Brockmann, K, Brunelle, P, Burmeister, M, Cooper, G M, Denecke, J, Dieux-Coëslier, A, Dubbs, H, Ferrer, A, Gal, D, Bartik, L E, Gunderson, L B, Hasadsri, L, Jain, M, Karimov, C, Keena, B, Klee, E W, Kloth, K, Lace, B, Macchiaiolo, M, Marcadier, J L, Milunsky, J M, Napier, M P, Ortiz-Gonzalez, X R, Pichurin, P N, Pinner, J, Powis, Z, Prasad, C, Radio, F C, Rasmussen, K J, Renaud, D L, Rush, E T, Saunders, C, Selcen, D, Seman, A R, Shinde, D N, Smith, E D, Smol, T, Snijders Blok, L, Stoler, J M, Tang, S, Tartaglia, M, Thompson, M L, van de Kamp, J M, Wang, J, Weise, D, Weiss, K, Woitschach, R, Wollnik, B, Yan, H, Zackai, E H, Zampino, G, Campeau, P & Bhoj, E 2020, ' A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome ', European Journal of Human Genetics, vol. 28, no. 10, pp. 1422-1431 . https://doi.org/10.1038/s41431-020-0654-4مصطلحات موضوعية: Adult, Male, CHD3 variants, Genetic testing, Adolescent, Snijders Blok-Campeau syndrome, Developmental Disabilities, medicine.disease_cause, Pediatrics, Article, Chromodomain, Craniofacial Abnormalities, Catalytic Domain, Intellectual Disability, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), Mutation, medicine.diagnostic_test, biology, Significant difference, DNA Helicases, Helicase, Infant, Syndrome, Autism spectrum disorders, Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Cohort, biology.protein, Female, Mi-2 Nucleosome Remodeling and Deacetylase Complex
وصف الملف: application/pdf
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