المؤلفون: Giannuzzi, G., Schmidt, P. J., Porcu, E., Willemin, G., Munson, K. M., Nuttle, X., Earl, R., Chrast, J., Hoekzema, K., Risso, D., Mannik, K., De Nittis, P., Baratz, E. D., Attanasio, C., Martin, S., Jacquemont, S., Bottani, A., Gerard, M., Weber, S., Jacquette, A., Lesne, F., Isidor, B., Le Caignec, C., Nizon, M., Vincent-Delorme, C., Gilbert-Dussardier, B., Curro`, A., Renieri, A., Giachino, D., Brusco, A., Herault, Y., Gao, X., Philpott, C. C., Bernier, R. A., Kutalik, Z., Fleming, M. D., Eichler, E. E., Reymond, A.

المساهمون: Chercheur indépendant, Department of Genome Sciences [Seattle] (GS), University of Washington [Seattle], Weill Medical College of Cornell University [New York], University of Tartu, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), Christian Albrechts University, Department of Psychiatry and Behavioral Sciences, Department of Medical Genetics, Université de Lausanne (UNIL), Center for Integrative Genomics - Institute of Bioinformatics, Génopode (CIG), Swiss Institute of Bioinformatics [Lausanne] (SIB), Université de Lausanne (UNIL)-Université de Lausanne (UNIL)

المصدر: Am J Hum Genet
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 105 (5), pp.947-958. ⟨10.1016/j.ajhg.2019.09.023⟩

مصطلحات موضوعية: Male, 0301 basic medicine, [SDV]Life Sciences [q-bio], Chromosome Disorders, 0302 clinical medicine, Chromosome Duplication, Gene duplication, Homeostasis, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), 2. Zero hunger, Genetics, iron deficiency anemia, medicine.diagnostic_test, Microcytosis, Anemia, Iron deficiency, 3. Good health, BOLA2, Phenotype, medicine.anatomical_structure, Serum iron, Female, Chromosome Deletion, Heterozygote, DNA Copy Number Variations, Genotype, 16p11.2 copy number variants, Iron, Biology, Article, 03 medical and health sciences, human evolution, gene duplication, human-specific segmental duplications, medicine, Animals, Humans, Autistic Disorder, [SDV.GEN]Life Sciences [q-bio]/Genetics, Proteins, medicine.disease, Red blood cell, 030104 developmental biology, Iron-deficiency anemia, Hemoglobin, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4278bbc6b11de493a02ddd8d3c54ba40Test
https://doi.org/10.1016/j.ajhg.2019.09.023Test

المؤلفون: Weiping Zou, Junfang Zhang, Jinxian Chen, Dan Ma, Jie Hong, Tingting Yan, Chaoqin Shen, Haoyan Chen, Qiang Liu, Danfeng Sun, Wan Du, Ming Zhong, Fangfang Guo, Ying-Xuan Chen, Yuan-Hong Xie, Xianglong Tian, Ji-Xuan Han, Penglei Jiang, Jing-Yuan Fang, Chenyang Yu, Ye Hu, Xiaoqiang Zhu, Jiayin Tang

المصدر: Oncogene

مصطلحات موضوعية: Male, 0301 basic medicine, Cancer Research, Candidate gene, Apoptosis, Mice, SCID, medicine.disease_cause, Cohort Studies, Mice, 0302 clinical medicine, Mice, Inbred NOD, Tumor Cells, Cultured, Promoter Regions, Genetic, Cancer genetics, Mice, Knockout, Genetics, Cadherins, Prognosis, Gene Expression Regulation, Neoplastic, Mechanisms of disease, 030220 oncology & carcinogenesis, Bone Morphogenetic Proteins, Colorectal Neoplasms, Quantitative Trait Loci, Locus (genetics), Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Antigens, CD, Biomarkers, Tumor, medicine, Animals, Humans, Genetic Predisposition to Disease, Allele, Enhancer, Molecular Biology, Transcription factor, Alleles, Cell Proliferation, Genetic association, NFATC Transcription Factors, Colorectal cancer, Xenograft Model Antitumor Assays, Repressor Proteins, 030104 developmental biology, Expression quantitative trait loci, Carcinogenesis, Chromosomes, Human, Pair 16, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9d99559cb49a9d090bd8000e7f8fbf8Test
https://doi.org/10.1038/s41388-019-1055-4Test

المؤلفون: M. A. Kelly, Amy C. Sturm, Christa Lese Martin, Matthew T. Oetjens, David H. Ledbetter

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Nature Communications

مصطلحات موضوعية: Male, 0301 basic medicine, Multifactorial Inheritance, Apolipoprotein B, Turner Syndrome, General Physics and Astronomy, Chromosome Disorders, Trisomy, Familial hypercholesterolemia, Quantitative trait, Body Mass Index, Hypobetalipoproteinemias, 0302 clinical medicine, Chromosome Duplication, XYY Karyotype, Genetics research, lcsh:Science, Sex Chromosome Aberrations, Genetics, education.field_of_study, Multidisciplinary, biology, Medical genetics, Middle Aged, embryonic structures, symbols, Receptor, Melanocortin, Type 4, Female, Chromosome Deletion, Proprotein Convertase 9, Science, Sex Chromosome Disorders of Sex Development, Population, Article, General Biochemistry, Genetics and Molecular Biology, Hyperlipoproteinemia Type II, 03 medical and health sciences, symbols.namesake, Klinefelter Syndrome, Rare Diseases, Intellectual Disability, Genetic variation, medicine, Humans, Obesity, Autistic Disorder, education, Apolipoproteins B, Genetic association, Chromosomes, Human, X, PCSK9, Rare variants, Cholesterol, LDL, General Chemistry, Melanocortin 4 Receptor Deficiency, medicine.disease, Body Height, 030104 developmental biology, Receptors, LDL, biology.protein, Mendelian inheritance, lcsh:Q, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56db2a15b70185ed9796798dae542b7fTest
https://doaj.org/article/96dda06cd3764488a3d966497943e622Test

المؤلفون: Manuel A. Rivas, Matthew Aguirre, James R. Priest

المصدر: The American Journal of Human Genetics. 105:373-383

مصطلحات موضوعية: Male, 0301 basic medicine, DNA Copy Number Variations, Genotype, Chromosome Disorders, Context (language use), Genomics, Coronary Artery Disease, Disease, Phenome, Biology, Polymorphism, Single Nucleotide, Article, Structural variation, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, DiGeorge Syndrome, Genetics, Humans, Genetic Predisposition to Disease, Copy-number variation, Autistic Disorder, Phenomics, Genetics (clinical), Selection (genetic algorithm), Biological Specimen Banks, Biobank, United Kingdom, Phenotype, 030104 developmental biology, Genetic Loci, Evolutionary biology, Case-Control Studies, Female, Chromosome Deletion, Chromosomes, Human, Pair 9, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6b602b17ff640ef4d0adc959cba43a2Test
https://doi.org/10.1016/j.ajhg.2019.07.001Test

المؤلفون: Sevgi Isik, Gulcin Gunden, Eren Gunduz, Olga Meltem Akay, Abdulvahap Aslan, Hulya Ozen, Oguz Cilingir, Ebru Erzurumluoglu Gokalp, Sinem Kocagil, Sevilhan Artan, Zafer Gulbas, Beyhan Durak Aras

المصدر: Cytogenetic and genome research. 161(10-11)

مصطلحات موضوعية: Male, Chromosomes, Human, Pair 13, DNA Copy Number Variations, Loss of Heterozygosity, Prognosis, Leukemia, Lymphocytic, Chronic, B-Cell, Genetics, Humans, Female, Chromosome Deletion, Molecular Biology, Genetics (clinical), Chromosomes, Human, Pair 16, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::400397653253ae6851deedd20ce3de71Test
https://pubmed.ncbi.nlm.nih.gov/34915466Test

المؤلفون: Zhihui, Jiao, Chaofeng, Zhu, Yaqin, Hou, Li, Wang, Xiangdong, Kong

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 38(8)

مصطلحات موضوعية: Fetus, Mosaicism, Pregnancy, Placenta, Prenatal Diagnosis, Cytogenetic Analysis, Amniocentesis, Humans, Female, Trisomy, Molecular Biology, Chromosomes, Human, Pair 16, In Situ Hybridization, Fluorescence

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f557290952b1bfa0f9ccd28e10314fcbTest
https://pubmed.ncbi.nlm.nih.gov/34365622Test

المؤلفون: Wendy K. Chung, Ellen Hanson, Raphael Bernier, Robin P. Goin-Kochel, Catherine Lord, Somer L. Bishop, Kyle J. Steinman, So Hyun Kim, LeeAnne Green-Snyder

المصدر: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, vol 183, iss 6
Am J Med Genet B Neuropsychiatr Genet

مصطلحات موضوعية: Male, Autism Spectrum Disorder, Autism, Chromosome Disorders, 16p11.2 deletion, Gene duplication, Chromosome Duplication, 2.1 Biological and endogenous factors, 16p11, Copy-number variation, deletion, Aetiology, Child, Genetics (clinical), Language, Pediatric, Middle Aged, Psychiatry and Mental health, Variation (linguistics), Mental Health, duplication, Autism spectrum disorder, Child, Preschool, Female, medicine.symptom, Chromosome Deletion, Psychology, Clinical psychology, Human, Adult, Heterozygote, Adolescent, DNA Copy Number Variations, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Semantics, Article, Chromosomes, Cellular and Molecular Neuroscience, Young Adult, 16p11.2 duplication, Clinical Research, Intellectual Disability, Behavioral and Social Science, medicine, Genetics, Humans, Speech, Family, Cognitive Dysfunction, Autistic Disorder, Preschool, Cognitive deficit, Syntax (programming languages), Pair 16, Verbal Behavior, Siblings, Neurosciences, language profiles, medicine.disease, Brain Disorders, Chromosomes, Human, Pair 16

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f35a7abe1b28d6f80a224a3cf4107fe9Test
https://escholarship.org/uc/item/6h67t169Test

المؤلفون: Seema Thakur, Abhipsa V. F. Debnath, Anushka Shrivastava, Sonal R Bakshi, Tara Nath

المصدر: Journal of Genetics. 100

مصطلحات موضوعية: Abortion, Habitual, Chromosomes, Human, Pair 22, Karyotype, Chromosome Disorders, Trisomy, Chromosomal translocation, Biology, Trisomy 22, Translocation, Genetic, Miscarriage, Fetus, Pregnancy, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Genetic testing, Chromosome Aberrations, medicine.diagnostic_test, Microarray Analysis, medicine.disease, Nondisjunction, Products of conception, Chromosomes, Human, Pair 2, Female, Chromosome Deletion, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b18bd706a6a6c49a819d1f5e32ba846Test
https://doi.org/10.1007/s12041-021-01304-3Test

المؤلفون: Megan Conrow-Graham, Benjamin Rein, Zhen Yan, Qing Cao, Allea Frazier

المصدر: Neuropharmacology. 204

مصطلحات موضوعية: Down-Regulation, Gene Expression, Chromosome Disorders, Mice, Transgenic, Biology, Gene Expression Regulation, Enzymologic, Histone Deacetylases, Histones, Cellular and Molecular Neuroscience, Intellectual Disability, Gene duplication, Gene expression, Basic Helix-Loop-Helix Transcription Factors, Animals, Humans, Epigenetics, Autistic Disorder, Transcription factor, Pharmacology, Histone deacetylase 5, Acetylation, Cell biology, Disease Models, Animal, Histone, Benzamides, biology.protein, GABAergic, Chromosome Deletion, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49f7b859173a1977038c817d124f1966Test
https://pubmed.ncbi.nlm.nih.gov/34822816Test

المؤلفون: Kentaro Tamura, Tomonari Awaya, Takahito Wada, Tatsuya Fujii, Taketoshi Yoshida

المصدر: Pediatrics and neonatology. 63(3)

مصطلحات موضوعية: Anemia, Hypochromic, alpha-Thalassemia, Intellectual Disability, Pediatrics, Perinatology and Child Health, Humans, Syndrome, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55cc3e393a410e7224184b6027bbabf9Test
https://pubmed.ncbi.nlm.nih.gov/35246371Test