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المؤلفون: Richard Duncan, Tao Wang, Carrie E. Bearden, David J. Cutler, Stephen T. Warren, Maria Pontillo, Robert Sean Gallagher, Elemi J. Breetvelt, Tingwei Guo, Nancy J. Butcher, Jennifer G. Mulle, Claudia Ornstein, Claudia Vingerhoets, Clodagh M. Murphy, Ehud Mekori-Domachevsky, Wendy R. Kates, Jacob A. S. Vorstman, Tracy Heung, Joris Vermeesch, Maria Gudbrandsen, Ann Swillen, H. Richard Johnston, Oanh Tran, Marco Armando, Joseph F. Cubells, Raoul Belzeaux, Jeroen Breckpot, Bruno Marino, Tony J. Simon, Harold I. Salmons, Maria Jalbrzikowski, Wanda Fremont, Anna J. Voss, Worrawat Engchuan, Opal Y. Ousley, Stefano Vicari, Jordi Rosell, Sixto García-Miñaur, Declan G. Murphy, Alexander Diacou, Ania Fiksinski, Abraham Weizman, Edward Moss, Stephan Eliez, Miri Carmel, Vandana Shashi, Anne S. Bassett, Ronnie Weinberger, Hayley Moss, Marianne Bernadette van den Bree, Kelly Schoch, Maude Schneider, Linda E. Campbell, Sasja N. Duijff, Eileen Daly, Annick Vogels, Stephen R. Hooper, David Fraguas, Sarah E. Prasad, Chelsea Lowther, Michael John Owen, Frédérique Béna, Gabriela M. Repetto, Eva W.C. Chow, Bernice E. Morrow, Robert J. Sharkus, Celso Arango, Christian R. Marshall, Jasna Raventos-Simic, Jaume Morey-Canyelles, Tiffany Busa, Andrea Jin, James T.R. Walters, Leila Kushan, Wolfram Demaerel, Monica E. Calkins, Jhih Rong Lin, Elaine H. Zackai, Esther D.A. van Duin, Antonio Buzzanca, Corrado Sandini, Kieran C. Murphy, Beverly S. Emanuel, Erik Boot, Maria Niarchou, Nigel Williams, Elfi Vergaelen, Maria Cristina Digilio, Daniele Merico, Karlene Coleman, Gregory A. Costain, Matthew S. Hestand, Peter Holmans, Michael E. Zwick, Michael P. Epstein, Damià H. Suñer, Yingjie Zhao, Marta Unolt, Kathryn McCabe, Aaron M. Holleman, Zhengdong Zhang, Rosemarie Fritsch, Alex V. Kotlar, Elena Michaelovsky, T. Blaine Crowley, Brenna Lilley, Sunny X. Tang, Rens Evers, Ruben C. Gur, Isabelle Cleynen, Flora Tassone, Nicole Philip, Kevin M. Antshel, Koen Devriendt, Antonio F. Pardiñas, Pankaj Chopra, Thomas Monfeuga, Fabio Di Fabio, Therese van Amelsvoort, Aaron Golden, Doron Gothelf, Donna M. McDonald-McGinn, Raquel E. Gur, Daniel E. McGinn
المساهمون: Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), The Hospital for sick children [Toronto] (SickKids), Emory University [Atlanta, GA], Cardiff University, University of Pennsylvania [Philadelphia], Albert Einstein College of Medicine [New York], University Hospitals Leuven [Leuven], University of Toronto, University Medical Center [Utrecht], University of California, Children’s Hospital of Philadelphia (CHOP ), Emory University School of Medicine, University Health Network, Centre for Addiction and Mental Health [Toronto] (CAMH), Maastricht University [Maastricht], Universidad de Chile, Clínica Alemana & Universidad del Desarrollo, Royal College of Surgeons in Ireland (RCSI), King‘s College London, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Children's Hospital Bambino Gesù [Rome, Italie], Tel Aviv University [Tel Aviv], The Edmond and Lily Safra Children's Hospital [Tel-Hahsomer, Israel], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE), University of Geneva [Switzerland], Geneva University Hospitals and Geneva University, Syracuse University, SUNY Upstate Medical University, State University of New York (SUNY), Hôpital Sainte-Marguerite [CHU - APHM] (Hôpitaux Sud ), Hôpital d'Enfants de la Timone [Marseille], Assistance Publique - Hôpitaux de Marseille (APHM), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Newcastle [Australia] (UoN), University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), Duke University School of Medicine, University of California [Davis] (UC Davis), Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), La Paz University Hospital, Hospital Universitario Son Espases, University of Pennsylvania, University of California (UC), Universidad de Chile = University of Chile [Santiago] (UCHILE), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), Tel Aviv University (TAU), Université de Genève = University of Geneva (UNIGE), University of Newcastle [Callaghan, Australia] (UoN), Caugant, Julien, RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9)
المصدر: Molecular Psychiatry
Molecular Psychiatry, Nature Publishing Group, 2020, ⟨10.1038/s41380-020-0654-3⟩
Molecular Psychiatry, 2020, ⟨10.1038/s41380-020-0654-3⟩
Molecular Psychiatry (2020)
Molecular psychiatry
Molecular Psychiatry, 26(8), 4496-4510. Nature Publishing Groupمصطلحات موضوعية: 0301 basic medicine, [SDV]Life Sciences [q-bio], VARIANTS, Cohort Studies, 0302 clinical medicine, Medicine, Copy-number variation, BRAIN, ddc:616, Genetics, education.field_of_study, PSYCHIATRIC-DISORDERS, ASSOCIATION, 3. Good health, [SDV] Life Sciences [q-bio], Psychiatry and Mental health, Schizophrenia, Cohort, BEHAVIOR, Adult, DATABASE, Population, COPY-NUMBER VARIATION, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, mental disorders, DiGeorge Syndrome, Humans, genetics, 22q11deletion syndrome, schizophrenia, education, Molecular Biology, Gene, Microarray analysis techniques, business.industry, MUTATIONS, CONSORTIUM, medicine.disease, Institutional repository, INDIVIDUALS, 030104 developmental biology, Psychotic Disorders, Case-Control Studies, 22q11.2 deletion syndrome, genetic factors, Polygenic risk score, business, 030217 neurology & neurosurgery, International 22q11.2DS Brain and Behavior Consortium
وصف الملف: application/pdf; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4c91788310dcf6c66ef3ac3973170b9Test
http://hdl.handle.net/20.500.12278/33344Test -
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المؤلفون: Jordan Virbalas, Bernice E. Morrow, David Reynolds, John P. Bent, Thomas J. Ow
المصدر: Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery. 160(3)
مصطلحات موضوعية: Male, Genotype, Urban Population, Hearing Loss, Sensorineural, Population, Deafness, Tertiary care, White People, 03 medical and health sciences, 0302 clinical medicine, Environmental health, Ethnicity, Prevalence, Medicine, Humans, 030223 otorhinolaryngology, education, Child, education.field_of_study, Polymorphism, Genetic, business.industry, Codeine, Ethnically diverse, Analgesics, Opioid, Cross-Sectional Studies, Otorhinolaryngology, Cytochrome P-450 CYP2D6, 030220 oncology & carcinogenesis, Pharmacogenomics, Surgery, Female, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f553c110ef5b3e9f9e3dc701180451fTest
https://pubmed.ncbi.nlm.nih.gov/30322340Test -
3
المؤلفون: Yang Liu, Deyou Zheng, Yidong Wang, Bin Zhou, Bernice E. Morrow, Pengfei Lu
المصدر: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
مصطلحات موضوعية: RBPMS, Biology, Transcriptome, Mice, 03 medical and health sciences, Spatio-Temporal Analysis, 0302 clinical medicine, transcription factors, Genetics, Morphogenesis, Animals, Medicine, Gene Regulatory Networks, Myocytes, Cardiac, Heart looping, Cardiac morphogenesis, scRNA‐seq, Gene, Transcription factor, Original Research, 030304 developmental biology, 0303 health sciences, Gene Expression & Regulation, Embryonic heart, business.industry, Cardiac looping, Heart, bioinformatics, Gene coexpression, Functional Genomics, Cell biology, Gene Expression Regulation, Atrioventricular canal, Signal transduction, Cardiology and Cardiovascular Medicine, business, transcriptome, 030217 neurology & neurosurgery, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccccb9c05acf652065092edf17e50471Test
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المؤلفون: Joris Vermeesch, Henry Richard Johnston, Michael P. Epstein, Donna M. McDonald-McGinn, Raquel E. Gur, Aaron M. Holleman, Isabelle Cleynen, Nigel Williams, Stephen T. Warren, Thomas Monfeuga, Bernice E. Morrow, Yingjie Zhao, Anne S. Bassett, Beverly S. Emanuel
المصدر: European Neuropsychopharmacology. 29:S1069-S1070
مصطلحات موضوعية: Pharmacology, Psychiatry and Mental health, Neurology, business.industry, Medicine, Pharmacology (medical), Deletion syndrome, Polygenic risk score, Neurology (clinical), business, Bioinformatics, Biological Psychiatry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3d7001a4067be05ec21732736cf1b930Test
https://doi.org/10.1016/j.euroneuro.2018.08.014Test -
5
المؤلفون: Hana Flögelová, Marijan Saraga, Maria Szczepańska, John M Darlow, Nicholas Katsanis, Barry Honig, Donald Petrey, Ali Samii, Akira Imamoto, Adele Mitrotti, Vladimir J Lozanovski, Bradley A. Warady, Max Werth, Qingxue Liu, Susan L. Furth, Mirna Saraga-Babić, Silvia E. Racedo, Grażyna Krzemień, Yangfan P. Liu, Rik Westland, Christopher E. Gillies, Iain A. Drummond, Alba Carrea, Matthew G. Sampson, Nicholas J Steers, Rémi Salomon, Rong Deng, Valentina P Capone, V. D’Agati, Virginia E. Papaioannou, Richard P. Lifton, Katarina Vukojević, Claudia Izzi, Małgorzata Mizerska-Wasiak, Francesco Scolari, Marcin Tkaczyk, Joanna A.E. van Wijk, Gabriel Makar, Prem Puri, Esther Lopez-Rivera, Loreto Gesualdo, Bernice E. Morrow, Jonathan Barasch, Velibor Tasic, Marcin Zaniew, Cécile Jeanpierre, Adela Arapović, Asaf Vivante, Donna M. McDonald-McGinn, Terrence B. Crowley, Monica Bodria, Daniele Cusi, Wassila Carpentier, Craig S. Wong, Ali G. Gharavi, Miguel Verbitsky, David Fasel, Zhonghai Yan, Edgar A. Otto, David E. Barton, Zoran Gucev, Monika Miklaszewska, Virginia Vega-Warner, Dorota Drozdz, Jeremiah Martino, Elaine H. Zackai, Agnieszka Szmigielska, Anna Latos-Bielenska, Mariarosa Maiorana, Anna Materna-Kiryluk, Landino Allegri, Dominique Gaillard, Laurence Heidet, Friedhelm Hildebrandt, Hakon Hakonarson, Gian Marco Ghiggeri, Simone Sanna-Cherchi, Nenad Kunac, Przemysław Sikora, Emilio Casolari, Krzysztof Kiryluk, Blair R. Anderson
المساهمون: Pediatric surgery, ACS - Microcirculation, Amsterdam Reproduction & Development (AR&D), Plateforme Post-génomique de la Pitié-Salpêtrière (P3S), UMS omique (OMIQUE), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 - UFR de Médecine Pierre et Marie Curie (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC)
المصدر: New England Journal of Medicine, 376(8), 742-754. Massachussetts Medical Society
Lopez-Rivera, E, Liu, Y P, Verbitsky, M, Anderson, B R, Capone, V P, Otto, E A, Yan, Z, Mitrotti, A, Martino, J, Steers, N J, Fasel, D A, Vukojevic, K, Deng, R, Racedo, S E, Liu, Q, Werth, M, Westland, R, Vivante, A, Makar, G S, Bodria, M, Sampson, M G, Gillies, C E, Vega-Warner, V, Maiorana, M, Petrey, D S, Honig, B, Lozanovski, V J, Salomon, R, Heidet, L, Carpentier, W, Gaillard, D, Carrea, A, Gesualdo, L, Cusi, D, Izzi, C, Scolari, F, Van Wijk, J A E, Arapovic, A, Saraga-Babic, M, Saraga, M, Kunac, N, Samii, A, McDonald-McGinn, D M, Crowley, T B, Zackai, E H, Drozdz, D, Miklaszewska, M, Tkaczyk, M, Sikora, P, Szczepanska, M, Mizerska-Wasiak, M, Krzemien, G, Szmigielska, A, Zaniew, M, Darlow, J M, Puri, P, Barton, D, Casolari, E, Furth, S L, Warady, B A, Gucev, Z, Hakonarson, H, Flogelova, H, Tasic, V, Latos-Bielenska, A, Materna-Kiryluk, A, Allegri, L, Wong, C S, Drummond, I A, D'Agati, V, Imamoto, A, Barasch, J M, Hildebrandt, F, Kiryluk, K, Lifton, R P, Morrow, B E, Jeanpierre, C, Papaioannou, V E, Ghiggeri, G M, Gharavi, A G, Katsanis, N & Sanna-Cherchi, S 2017, ' Genetic drivers of kidney defects in the digeorge syndrome ', New England Journal of Medicine, vol. 376, no. 8, pp. 742-754 . https://doi.org/10.1056/NEJMoa1609009Test
New England Journal of Medicine
New England Journal of Medicine, 2017, 376 (8), pp.742-754. ⟨10.1056/NEJMoa1609009⟩
New England Journal of Medicine, Massachusetts Medical Society, 2017, 376 (8), pp.742-754. ⟨10.1056/NEJMoa1609009⟩
The New England journal of medicine
376 (2017): 742–754. doi:10.1056/NEJMoa1609009
info:cnr-pdr/source/autori:Lopez-Rivera, E.; Liu, Y. P.; Verbitsky, M.; Anderson, B. R.; Capone, V. P.; Otto, E. A.; Yan, Z.; Mitrotti, A.; Martino, J.; Steers, N. J.; Fasel, D. A.; Vukojevic, K.; Deng, R.; Racedo, S. E.; Liu, Q.; Werth, M.; Westland, R.; Vivante, A.; Makar, G. S.; Bodria, M.; Sampson, M. G.; Gillies, C. E.; Vega-Warner, V.; Maiorana, M.; Petrey, D. S.; Honig, B.; Lozanovski, V. J.; Salomon, R.; Heidet, L.; Carpentier, W.; Gaillard, D.; Carrea, A.; Gesualdo, L.; Cusi, D.; Izzi, C.; Scolari, F.; van Wijk, J. A. E.; Arapovic, A.; Saraga-Babic, M.; Saraga, M.; Kunac, N.; Samii, A.; McDonald-McGinn, D. M.; Crowley, T. B.; Zackai, E. H.; Drozdz, D.; Miklaszewska, M.; Tkaczyk, M.; Sikora, P.; Szczepanska, M.; Mizerska-Wasiak, M.; Krzemien, G.; Szmigielska, A.; Zaniew, M.; Darlow, J. M.; Puri, P.; Barton, D.; Casolari, E.; Furth, S. L.; Warady, B. A.; Gucev, Z.; Hakonarson, H.; Flogelova, H.; Tasic, V.; Latos-Bielenska, A.; Materna-Kiryluk, A.; Allegri, L.; Wong, C. S.; Drummond, I. A.; D'Agati, V.; Imamoto, A.; Barasch, J. M.; Hildebrandt, F.; Kiryluk, K.; Lifton, R. P.; Morrow, B. E.; Jeanpierre, C.; Papaioannou, V. E.; Ghiggeri, G. M.; Gharavi, A. G.; Katsanis, N.; Sanna-Cherchi, S./titolo:Genetic Drivers of Kidney Defects in the DiGeorge Syndrome/doi:10.1056%2FNEJMoa1609009/rivista:The New England journal of medicine (Print)/anno:2017/pagina_da:742/pagina_a:754/intervallo_pagine:742–754/volume:376مصطلحات موضوعية: 0301 basic medicine, Male, Adaptor Proteins, Signal Transducing, Adolescent, Animals, Child, Chromosomes, Human, Pair 22, DiGeorge Syndrome, Exome, Female, Heterozygote, Humans, Infant, Infant, Newborn, Kidney, Mice, Models, Animal, Nuclear Proteins, Sequence Analysis, DNA, Urinary Tract, Young Adult, Zebrafish, Chromosome Deletion, Haploinsufficiency, Medicine (all), Pathology, [SDV]Life Sciences [q-bio], 0302 clinical medicine, Models, DiGeorge syndrome, Medicine, Genetics, education.field_of_study, biology, Adaptor Proteins, General Medicine, 3. Good health, medicine.anatomical_structure, Sequence Analysis, Human, medicine.medical_specialty, Urinary system, Population, Chromosomes, Article, 03 medical and health sciences, education, Animal, business.industry, Signal Transducing, DNA, Odds ratio, Newborn, medicine.disease, biology.organism_classification, 030104 developmental biology, Pair 22, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f1b5da3f4139cc905ca7e6de1a725ceTest
https://pubmed.ncbi.nlm.nih.gov/28456345Test -
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المؤلفون: Jan Vijg, Cristina Montagna, Kunjan Patel, Bernice E. Morrow, Alexander Y. Maslov, Aaron Golden, Maria Delio, John M. Greally
المصدر: Cancer Research. 73:P2-12
مصطلحات موضوعية: Cancer genome sequencing, Cancer Research, Tumor suppressor gene, business.industry, Ion semiconductor sequencing, Biology, Bioinformatics, medicine.disease, Deep sequencing, DNA sequencing, Breast cancer, Oncology, medicine, Personalized medicine, business, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9a79bd7974397d1fa6949b61fd7b7206Test
https://doi.org/10.1158/0008-5472.sabcs13-p2-12-09Test -
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المصدر: Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis
مصطلحات موضوعية: TBX1, Genetics, business.industry, Medicine, Deletion syndrome, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::16e57b732aa32ec7d48c5ebca5e7b819Test
https://doi.org/10.1093/med/9780199934522.003.0120Test -
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المؤلفون: Bernice E. Morrow, Hakon Hakonarson, Alice Bailey, Beverly S. Emanuel, Robert T. Schultz, Tara L. Wenger, Elaine H. Zackai, Donna M. McDonald-McGinn, Charlly Kao
المصدر: Scientific Reports
مصطلحات موضوعية: Risk, 0301 basic medicine, DNA Copy Number Variations, genetic structures, Autism Spectrum Disorder, Chromosomes, Human, Pair 22, Gene Dosage, Receptors, Metabotropic Glutamate, Bioinformatics, behavioral disciplines and activities, Article, 03 medical and health sciences, Tuberous sclerosis, 0302 clinical medicine, mental disorders, medicine, Humans, Genetic Predisposition to Disease, Copy-number variation, Multidisciplinary, Metabotropic glutamate receptor 5, business.industry, musculoskeletal, neural, and ocular physiology, Syndrome, medicine.disease, Pathophysiology, Fragile X syndrome, 030104 developmental biology, nervous system, Autism spectrum disorder, Metabotropic glutamate receptor, Gene-Environment Interaction, Chromosome Deletion, Haploinsufficiency, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4cff0be900b64452d44bc24f21289f5Test
https://doi.org/10.1038/srep19372Test -
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المؤلفون: Bernice E. Morrow, Maria Delio, Rashmi S. Hegde, Jinlu Cai, Arnaud P. J. Giese, Joy Samanich, Zubair Ahmed, Kunjan Patel, Jonathan M Grossheim, Saima Riazuddin, Gregory I. Frolenkov
المصدر: PLoS ONE
PLoS ONE, Vol 10, Iss 10, p e0141259 (2015)مصطلحات موضوعية: Adult, Male, Models, Molecular, Hearing loss, Mutation, Missense, chemistry.chemical_element, lcsh:Medicine, Calcium, Myosins, Protein Structure, Secondary, Stereocilia, Chlorocebus aethiops, medicine, Animals, Humans, Exome, Amino Acid Sequence, lcsh:Science, Child, Hearing Loss, Integrin binding, Genetics, Multidisciplinary, business.industry, lcsh:R, Calcium-Binding Proteins, Correction, Infant, Membrane Proteins, Hispanic or Latino, Pedigree, HEK293 Cells, chemistry, Mutation (genetic algorithm), COS Cells, lcsh:Q, Female, medicine.symptom, business, Non syndromic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47856088bbfb62e7d1cc7c50786ce3d0Test
http://europepmc.org/articles/PMC4608585Test -
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المؤلفون: Marcia A. Friedman, Cheryl A. Roe, Bernice E. Morrow, Anne Marie Higgins, Dongliang Wang, Robert J. Shprintzen, Nathanial R Miletta, Wendy R. Kates
المصدر: International Journal of Pediatric Otorhinolaryngology. 75:1167-1172
مصطلحات موضوعية: Adult, Heart Defects, Congenital, Male, TBX1, Heart disease, Chromosomes, Human, Pair 21, Retrognathia, Bioinformatics, Severity of Illness Index, Article, Cohort Studies, Young Adult, DiGeorge Syndrome, Prevalence, Humans, Medicine, Abnormalities, Multiple, Genetic Predisposition to Disease, Child, Aged, Retrospective Studies, Tetralogy of Fallot, Chromosome Aberrations, business.industry, Infant, Newborn, Infant, Retrospective cohort study, General Medicine, Anatomy, Middle Aged, medicine.disease, Phenotype, United States, Cleft Palate, Otorhinolaryngology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business, Chromosome 22, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f744f378d5e4e62669d1a6c81413c46Test
https://doi.org/10.1016/j.ijporl.2011.06.013Test