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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32c1b75f551f3d9ba05ded3008e83778Test
http://link.springer.com/article/10.1038/s41598-020-69134-4Test -
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المؤلفون: Lisanne Vervoort, Tamim H. Shaikh, Beverly S. Emanuel, Elfi Vergaelen, Ming Xiao, Steven Pastor, Wolfram Demaerel, Donna M. McDonald-McGinn, Matthew S. Hestand, Ann Swillen, Yulia Mostovoy, Elizabeth A. Geiger, Pui-Yan Kwok, Joris Vermeesch, Bernice E. Morrow, Curtis R. Coughlin, Stephen K. Chow, Feyza Yilmaz
المصدر: Genome research, vol 29, iss 9
مصطلحات موضوعية: Primates, Genome instability, 22q11 Deletion Syndrome, Evolution, Bioinformatics, Chromosomes, Human, Pair 22, Non-allelic homologous recombination, Biology, Medical and Health Sciences, Genome, Chromosomes, Fluorescence, Repetitive Sequences, Cell Line, Evolution, Molecular, 03 medical and health sciences, 0302 clinical medicine, Chromosomal Instability, Chromosome instability, Genetics, Animals, Humans, 2.1 Biological and endogenous factors, Aetiology, Allele, In Situ Hybridization, Fluorescence, In Situ Hybridization, Genetics (clinical), Repetitive Sequences, Nucleic Acid, 030304 developmental biology, 0303 health sciences, Nucleic Acid, Research, Human Genome, Chromosome Mapping, Molecular, Low copy repeats, Biological Sciences, Evolutionary biology, Pair 22, Chromosome 22, 030217 neurology & neurosurgery, Human
وصف الملف: Print; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce69d30c7c07cbca901d9297cc285853Test
https://doi.org/10.1101/gr.248682.119Test -
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المؤلفون: Bin Zhou, Alexander Diacou, Bernice E. Morrow, Silvia E. Racedo, Lijie Shi, Taeju Park
المصدر: Hum Mol Genet
مصطلحات موضوعية: Heart Defects, Congenital, animal structures, Vascular smooth muscle, Integrin, Notch signaling pathway, Cell morphology, Muscle, Smooth, Vascular, Adapter molecule crk, Mice, Genetics, medicine, Animals, Molecular Biology, Genetics (clinical), biology, Neural crest, Cell Differentiation, General Medicine, Proto-Oncogene Proteins c-crk, Cell biology, CRKL, medicine.anatomical_structure, Neural Crest, embryonic structures, biology.protein, Original Article, Pharyngeal arch, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c3872ecdcc77ea29e695ebc4cf52e14Test
https://pubmed.ncbi.nlm.nih.gov/34686881Test -
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المؤلفون: Elizabeth Goldmuntz, Beverly S. Emanuel, Omobola O. Oluwafemi, Fadi I Musfee, A. J. Agopian, Hongbo Xie, Tingwei Guo, Hakon Hakonarson, Laura E. Mitchell, Deanne Taylor, Donna M McDonald-McGinn, Bernice E. Morrow
المصدر: Genes
Volume 12
Issue 7
Genes, Vol 12, Iss 1030, p 1030 (2021)مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Genotype, Genome-wide association study, Single-nucleotide polymorphism, QH426-470, 030204 cardiovascular system & hematology, Biology, Polymorphism, Single Nucleotide, Article, Conotruncal heart defects, 03 medical and health sciences, 0302 clinical medicine, Conotruncal defect, Genetics, DiGeorge Syndrome, Humans, Deletion syndrome, Genetic Testing, Gene, Genetics (clinical), genome-wide association study, congenital, United States, 030104 developmental biology, Great vessels, Multiple comparisons problem, heart defects, Chromosome Deletion
وصف الملف: application/pdf
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http://europepmc.org/articles/PMC8306129Test -
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المؤلفون: Deanne Taylor, Mark Yandell, Hakon Hakonarson, Elizabeth Goldmuntz, Fadi I Musfee, Martin Tristani-Firouzi, Bernice E. Morrow, W. Scott Watkins, Laura E. Mitchell, A. J. Agopian
المصدر: Genes
Volume 12
Issue 5
Genes, Vol 12, Iss 655, p 655 (2021)مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Genotype, heart, QH426-470, 030204 cardiovascular system & hematology, Biology, Polymorphism, Single Nucleotide, Article, Conotruncal heart defects, genome-wide, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Risk Factors, Ventricular outflow tract, Humans, genetics, Cytoskeleton, gene, Gene, Exome, Genetics (clinical), Genetics, Genome, Human, Genetic variants, association, congenital, conotruncal, malformation, 030104 developmental biology, Bonferroni correction, Case-Control Studies, symbols, case-parent trios, case-control
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7995e5b10872c7d355952404cca4c33eTest
https://pubmed.ncbi.nlm.nih.gov/33925651Test -
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المؤلفون: Bernice E. Morrow, Yidong Wang, Bin Zhou, Bingruo Wu, Pengfei Lu
المصدر: J Mol Cell Cardiol
مصطلحات موضوعية: Male, 0301 basic medicine, Genetically modified mouse, Gene regulatory network, Notch signaling pathway, Biology, Wnt-5a Protein, Article, Mice, 03 medical and health sciences, Animals, Receptor, Notch1, Molecular Biology, In Situ Hybridization, beta Catenin, Receptors, Notch, Myocardium, Wnt signaling pathway, Gene Expression Regulation, Developmental, Cardiac chamber formation, Cell biology, WNT5A, 030104 developmental biology, embryonic structures, cardiovascular system, Female, sense organs, Signal transduction, Cardiology and Cardiovascular Medicine, Ex vivo, Endocardium
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::973acf5dac8f99d6cc3c93c39612da97Test
https://doi.org/10.1016/j.yjmcc.2018.10.014Test -
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المؤلفون: Maude Schneider, Doron Gothelf, Marianne Bernadette van den Bree, Carrie E. Bearden, Donna M. McDonald-McGinn, Marco Armando, Raquel E. Gur, Jordi Rosell, Joris Vermeesch, Ann Swillen, Therese van Amelsvoort, Jacob A. S. Vorstman, Robert J. Shprintzen, Tao Wang, Clodagh M. Murphy, Kieran C. Murphy, Tingwei Guo, Terrence B. Crowley, Jasna Raventos, Nicole Philip, Sasja N. Duijff, Elaine H. Zackai, Maria Pontillo, Jeroen Breckpot, Stephan Eliez, Alexander Diacou, Beverly S. Emanuel, Stefano Vicari, Michael John Owen, Maria Niarchou, Claudia Ornstein, Jaume Morey‐Cañellas, Anne S. Bassett, Yingjie Zhao, Ania Fiksinski, Rens Evers, Elemi J. Breetvelt, Antonino Buzzanca, Sixto García-Miñaur, Bernice E. Morrow, Eva W.C. Chow, Wendy R. Kates, Linda E. Campbell, Damian Heine-Suñer
المساهمون: RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9)
المصدر: American Journal of Medical Genetics. A, Vol. 176, No 10 (2018) pp. 2172-2181
American Journal of Medical Genetics Part A, 176(10), 2172-2181. Wiley
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American journal of medical genetics. Part A, vol 176, iss 10مصطلحات موضوعية: 0301 basic medicine, Male, Chromosomes, Human, Pair 22, Intellectual disability, DEVELOPMENTAL TRAJECTORIES, INTELLIGENCE, ddc:616.89, 0302 clinical medicine, Cognitive decline, BRAIN, Child, Genetics (clinical), Intelligence Tests, Pediatric, education.field_of_study, Intelligence quotient, CARDIO-FACIAL-SYNDROME, Low copy repeats, CONGENITAL HEART-DISEASE, low copy repeat, VELOCARDIOFACIAL SYNDROME, intellectual disability, Cohort, Female, SCHOOL-AGED CHILDREN, Chromosome Deletion, Haploinsufficiency, Deletion size, deletion size, Human, Adult, medicine.medical_specialty, Adolescent, Population, Clinical Sciences, Segmental duplication, Low copy repeat, segmental duplication, Biology, Article, Chromosomes, 03 medical and health sciences, NEURODEVELOPMENTAL OUTCOMES, Clinical Research, Internal medicine, medicine, DiGeorge Syndrome, Genetics, Acquired Cognitive Impairment, Humans, education, International 22q11.2 Brain and Behavior Consortium, medicine.disease, Brain Disorders, Institutional repository, 030104 developmental biology, Endocrinology, IQ, 22q11.2 deletion syndrome, COGNITIVE DECLINE, Pair 22, FOLLOW-UP, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c08da23afa70859c4fc6d6aa3b110d39Test
https://doi.org/10.1002/ajmg.a.40359Test -
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المؤلفون: Wei Wang, Antonio Baldini, Claudia Angelini, Bernice E. Morrow, Chenleng Cai, Anelisa G. Dantas, Hansoo Song, Hiroko Nomaru, Lionel Christiaen, Lu Zhang, Deyou Zheng, Silvia E. Racedo, Dario Righelli, Yang Liu, Andrea Cirino, Christopher De Bono, Robert G. Kelly
المساهمون: Albert Einstein College of Medicine [New York], Institute for Applied Computing, National Research Council, Naples, Italy, Università degli Studi di Padova = University of Padua (Unipd), University of Naples Federico II = Università degli studi di Napoli Federico II, Center for Developmental Genetics, Department of Biology, New York University, New York, NY, USA, Federal University of Sao Paulo, Sao Paulo, Brazil., Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA., Institut de Biologie du Développement de Marseille (IBDM), Aix Marseille Université (AMU)-Collège de France (CdF (institution))-Centre National de la Recherche Scientifique (CNRS), Nomaru, H., Liu, Y., De Bono, C., Righelli, D., Cirino, A., Wang, W., Song, H., Racedo, S. E., Dantas, A. G., Zhang, L., Cai, C. -L., Angelini, C., Christiaen, L., Kelly, R. G., Baldini, A., Zheng, D., Morrow, B. E.
المصدر: Nature communications 12 (2021): 1–19. doi:10.1038/s41467-021-26966-6
info:cnr-pdr/source/autori:Nomaru H.; Liu Y.; De Bono C.; Righelli D.; Cirino A.; Wang W.; Song H.; Racedo S.E.; Dantas A.G.; Zhang L.; Cai C.-L.; Angelini C.; Christiaen L.; Kelly R.G.; Baldini A.; Zheng D.; Morrow B.E./titolo:Single cell multi-omic analysis identifies a Tbx1-dependent multilineage primed population in murine cardiopharyngeal mesoderm./doi:10.1038%2Fs41467-021-26966-6/rivista:Nature communications/anno:2021/pagina_da:1/pagina_a:19/intervallo_pagine:1–19/volume:12
Nature Communications
Nature Communications, 2021, 12 (1), pp.6645. ⟨10.1038/s41467-021-26966-6⟩
Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)مصطلحات موضوعية: [SDV]Life Sciences [q-bio], Basic Helix-Loop-Helix Transcription Factor, General Physics and Astronomy, Mesoderm, Mice, Basic Helix-Loop-Helix Transcription Factors, Gene Regulatory Networks, education.field_of_study, Gene Regulatory Network, Multidisciplinary, Stem Cells, Gene Expression Regulation, Developmental, Cell Differentiation, Heart, RNA sequencing, TBX1, ATAC-seq, Cell biology, Chromatin, ChIP-seq, Single-Cell Analysi, medicine.anatomical_structure, Mechanisms of disease, embryonic structures, Single-Cell Analysis, Haploinsufficiency, Science, Population, Mice, Transgenic, Biology, General Biochemistry, Genetics and Molecular Biology, Article, Stem Cell, Pharyngeal apparatus, scRNA-seq, medicine, Animals, Progenitor cell, education, Muscle, Skeletal, Transcription factor, Cell lineage, Animal, Gene Expression Profiling, Myocardium, General Chemistry, Branchial Region, T-Box Domain Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49ae0da7c2b24344df9b923883c1f3d2Test
http://www.cnr.it/prodotto/i/460309Test -
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المؤلفون: Wei Wang, Hiroko Nomaru, Antonio Baldini, Lionel Christiaen, Claudia Angelini, Dario Righelli, Bernice E. Morrow, Christopher De Bono, Chenleng Cai, Deyou Zheng, Silvia E. Racedo, Yang Liu, Andrea Cirino, Robert G. Kelly, Anelisa Dantas
مصطلحات موضوعية: TBX1, Mesoderm, education.field_of_study, Population, Biology, Chromatin, Cell biology, medicine.anatomical_structure, Pharyngeal apparatus, embryonic structures, medicine, Progenitor cell, Haploinsufficiency, education, Transcription factor
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2a469b0c81352ba83ea7f69bd2ce6957Test
https://doi.org/10.1101/2020.12.24.424342Test -
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المؤلفون: Claudia Ornstein, Anne S. Bassett, Matthew S. Hestand, Bruno Marino, Kelly Schoch, Tony J. Simon, Therese van Amelsvoort, Doron Gothelf, Carrie E. Bearden, Elemi J. Breetvelt, Michael P. Epstein, Tiffany Busa, Robert J. Shprintzen, David Cutler, Tao Wang, Leila Kushan-Wells, Donna M. McDonald-McGinn, Raquel E. Gur, Hayley Moss, Esther D. A. van Duin, B Dallapiccola, Joris Vermeesch, Clodagh M. Murphy, Yingjie Zhao, Rens Evers, María Angeles de la Fuente Sanches, Ann Swillen, H. Richard Johnston, Maria Pontillo, Steve Warren, Guido Lattanzi, Michael E. Zwick, Jacob A. S. Vorstman, Jeroen Breckpot, Oanh Tran, Stylianos E. Antonarakis, Stefano Vicari, Andrea Jin, Alexander Diacou, Miri Carmel, Christian R. Marshall, Abraham Weizman, Bernice E. Morrow, Fadi I Musfee, Wendy R. Kates, Michael John Owen, Fabio Di Fabio, Marco Armando, Erik Boot, Claudia Vingerhoets, Elizabeth Goldmuntz, Massimo Biondi, Kieran C. Murphy, Nancy Butcher, Declan G. Murphy, Candice K. Silversides, Isabelle Cleynen, T. Blaine Crowley, Vandana Shashi, Linda E. Campbell, Elaine H. Zackai, Ronnie Weinberger, Sixto García-Miñaur, Marianne Bernadette van den Bree, Fernando García Algas, Damian Heine-Suñer, Tracy Heung, Daniel E. McGinn, Maude Schneider, Stephan Eliez, Marta Unolt, Stephen R. Hooper, Kathryn McCabe, A. J. Agopian, Tingwei Guo, Zhengdong Zhang, Rosemarie Fritsch, Luis Fernández, Beverly S. Emanuel, Elfi Vergaelen, Alejandra Laorden-Nieto, Flora Tassone, Gabriela M. Repetto, Laura E. Mitchell, Antonino Buzzanca, Elena Michaelovsky, M. Cristina Digilio, Nicole Philip
المساهمون: RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9), Antonarakis, Stylianos
المصدر: American Journal of Human Genetics, 106(1), 26-40. Cell Press
Am J Hum Genet
American Journal of Human Genetics, Vol. 106, No 1 (2020) pp. 26-40
American journal of human genetics, vol 106, iss 1مصطلحات موضوعية: Male, Heart disease, PREDICTION, Chromosomes, Human, Pair 22, Haploinsufficiency, Cardiovascular, Medical and Health Sciences, Genetic modifier, Proto-Oncogene Mas, Linkage Disequilibrium, Cohort Studies, Congenital, ddc:616.89, Segmental Duplications, Genomic, DiGeorge syndrome, 2.1 Biological and endogenous factors, Chromosome 22q11.2 deletion syndrome, Copy-number variation, Aetiology, Genetics (clinical), Heart Defects, Pediatric, Genetics & Heredity, Genetics, cardio-facial syndrome, II DEFICIENCY, 0303 health sciences, variants, MOLECULAR DEFINITION, 030305 genetics & heredity, TBX1, Single Nucleotide, Biological Sciences, Segmental Duplications, Complex trait, Heart Disease, Phenotype, Female, tbx1 haploinsufficiency, Chromosome Deletion, Human, Heart Defects, Congenital, prevalence, Biology, Polymorphism, Single Nucleotide, Chromosomes, Article, 03 medical and health sciences, Complete sequence, Clinical Research, LOW-COPY REPEATS, medicine, Humans, Polymorphism, Allele, Conotruncal heart defects, International 22q11.2 Brain and Behavior Consortium, 030304 developmental biology, Sequence (medicine), Congenital heart disease, Copy number variation, Human Genome, association, CRKL, medicine.disease, chromosome 22q11.2 deletion syndrome, complex trait, congenital heart disease, conotruncal heart defects, copy number variation, genetic association, genetic modifier, haploinsufficiency, Case-Control Studies, Genome-Wide Association Study, Genomic, Genetic association, Pair 22
وصف الملف: application/pdf; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8700304c185800fa1b2e56de201d2874Test
https://cris.maastrichtuniversity.nl/en/publications/fcebc151-7a92-4dbe-8f36-bd15cb7462bbTest