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1كتاب
المساهمون: Swansbury, John.
مصطلحات موضوعية: Cytogenetics -- methods., Molecular Biology -- methods., Chromosome Disorders -- genetics., Neoplasms -- genetics., Cancer -- Genetic aspects -- Laboratory manuals., Neoplasms -- genetics -- Laboratory Manuals., Laboratory Manuals., Handbooks, manuals, etc., Laboratory manuals.
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2كتاب
المساهمون: Kirsch, Ilan R.
مصطلحات موضوعية: Chromosome abnormalities., Molecular genetics., Cytogenetics., Chromosome Aberrations -- genetics., Chromosome Disorders -- genetics.
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3كتاب
المساهمون: Patterson, David, 1944-, Epstein, Charles J.
مصطلحات موضوعية: Chromosome Disorders -- genetics., Down Syndrome -- genetics., Chromosomes, Human, Pair 21., Chromosome Aberrations -- genetics., Down syndrome -- Genetic aspects -- Congresses., Down syndrome -- Molecular aspects -- Congresses., Human chromosome 21 -- Congresses., Congresses.
Relation: Symposium on Molecular Genetics of Chromosome 21 and Down Syndrome (1989 : New York, N.Y.)
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4رسالة جامعية
المؤلفون: Degerman, Sofie
مصطلحات موضوعية: Chromosome aberrations, Chromosomes, human, pair 2 -- genetics, T-lymphocytes -- physiology, T-lymphocytes -- metabolism, Cell cycle proteins -- metabolism, Cell line, transformed -- metabolism, Chromosome breakage -- genetics, Chromosome disorders -- genetics, Nuclear proteins -- metabolism, Telomere -- metabolism
Degree: Diss. (sammanfattning) Umeå : Umeå universitet, 2010
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5رسالة جامعية
المؤلفون: Lindstrand, Anna
مصطلحات موضوعية: Chromosome Aberrations, Chromosome Disorders -- genetics, Chromosome Disorders -- diagnosis, Chromosome Breakage, Cytogenic Analysis, In Situ Hybridization, Fluorescence, Oligonucleotide Array Sequence Analysis
URL الوصول: http://diss.kib.ki.se/2010/978-91-7409-756-6/
Degree: Diss. (sammanfattning) Stockholm : Karolinska institutet, 2010
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6رسالة جامعية
المؤلفون: Schoumans, Jacqueline
مصطلحات موضوعية: Mental retardation -- genetics, Chromosome aberrations, Chromosome disorders -- genetics, Phenotype, Genotype, Cytogenetic analysis, Child
URL الوصول: http://diss.kib.ki.se/2005/91-7140-175-X/
Degree: Diss. (sammanfattning) Stockholm : Karol. inst., 2005
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7
المؤلفون: Francesca Pacchierotti, Kenichi Masumura, Roland Froetschl, Azeddine Elhajouji, David Tweats, Micheline Kirsch-Volders, David A. Eastmond, Anthony M. Lynch, Maik Schuler, Francesco Marchetti
المساهمون: Biology, Tweats, D., Eastmond, D. A., Lynch, A. M., Elhajouji, A., Froetschl, R., Kirsch-Volders, M., Marchetti, F., Masumura, K., Pacchierotti, F., Schuler, M.
المصدر: Mutation research. Genetic toxicology and environmental mutagenesis. 847
مصطلحات موضوعية: Mutagenicity Tests/methods, 0301 basic medicine, Carcinogenesis, Health, Toxicology and Mutagenesis, Aneuploidy, Chromosome Disorders, 010501 environmental sciences, medicine.disease_cause, Chromosomes/drug effects, 01 natural sciences, Mice, Chromosome Disorders/genetics, Chromosome instability, Neoplasms, Spindle Apparatus/drug effects, Neoplasms, Second Primary/chemically induced, Down Syndrome/complications, Tubulin Modulators/toxicity, Neoplasms, Second Primary, Tubulin Modulators, Models, Animal, Down syndrome, Spindle Apparatus, Chromosomes, 03 medical and health sciences, Chromosomal Instability, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, Mutagens/toxicity, Epigenetics, Carcinogen, 0105 earth and related environmental sciences, Centrosome, business.industry, Mutagenicity Tests, Cancer, medicine.disease, 030104 developmental biology, Neoplasms/chemically induced, Cancer research, Carcinogens, Carcinogenesis/genetics, Down Syndrome, business, Trisomy, Carcinogens/toxicity, Mutagens
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8
المؤلفون: D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Mace, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gerard, M., Goin-Kochel, R. P., Grant, E., Hunter, J. V., Isidor, B., Jacquette, A., Jonch, A. E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C. L., Mannik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M. J., Passeggeri, M., Rooryck-Thambo, C., Rosenfeld, J. A., Spence, S. J., Steinman, K. J., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E. H., Ledbetter, D. H., van den Bree, M. B. M., Beckmann, J. S., Spiro, J. E., Reymond, A., Jacquemont, S., Chung, W. K., Knoers, N. V. A. M., Martinet, D., Belfiore, M., Cuvellier, J. -C., Devries, B., Delrue, M. -A., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, M. A., Minet, J. -C., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, B. H., Koolen, D. A., Vulto-Van Silfhout, A., de Leeuw, N., Rosanfeld, J. A., Filges, I., Achatz, E., Roetzer, K. M., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, P. M., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, G. P., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Freminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, R. F., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Endre, J., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., La, K., Levy, S., Lian, A., Llorens, A. V., Loftus, K., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith, B., Snow, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A.
المساهمون: Blaumeiser, Bettina, Kooy, Frank, Other departments, Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, Knoers, VA., Martinet, D., Belfiore, M., Cuvellier, JC., de Vries, B., Delrue, MA., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, MA., Minet, JC., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, BH., Koolen, DA., Vulto-van Silfhout, A., de Leeuw, N., Rosenfeld, JA., Filges, I., Achatz, E., Roetzer, KM., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, PM., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, GP., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Fréminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, RF., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, AL., Benedetti, M., Berg, J., Berman, J., Berry, LN., Bibb, AL., Blaskey, L., Brennan, J., Brewton, CM., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, AG., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, JE., Evans, YL., Findlay, A., Fischbach, GD., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, SE., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, FI., Jenkins J.
3rd , Jeremy, RJ., Johnson, K., Kanne, SM., Kessler, S., Khan, SY., Ku, M., Kuschner, E., Laakman, AL., Lam, P., Lasala, MW., Lee, H., LaGuerre, K., Levy, S., Lian Cavanagh, A., Llorens, AV., Loftus Campe, K., Luks, TL., Marco, EJ., Martin, S., Martin, AJ., Marzano, G., Masson, C., McGovern, KE., McNally Keehn, R., Miller, DT., Miller, FK., Moss, TJ., Murray, R., Nagarajan, SS., Nowell, KP., Owen, J., Paal, AM., Packer, A., Page, PZ., Paul, BM., Peters, A., Peterson, D., Poduri, A., Pojman, NJ., Porche, K., Proud, MB., Qasmieh, S., Ramocki, MB., Reilly, B., Roberts, TP., Shaw, D., Sinha, T., Smith-Packard, B., Snow Gallagher, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)المصدر: JAMA psychiatry
Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study 2016, ' Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities ', JAMA Psychiatry, vol. 73, no. 1, pp. 20-30 . https://doi.org/10.1001/jamapsychiatry.2015.2123
JAMA PSYCHIATRY
JAMA psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 1, pp. 20-30
JAMA Psychiatry
Jama Psychiatry, vol. 73, no. 1, pp. 20-30
JAMA Psychiatry, 73(1), 20. American Medical Association
JAMA Psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 20-30مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Pediatrics, Autism Spectrum Disorder, Developmental Disabilities, Chromosome Disorders, Comorbidity, Nonverbal learning disorder, Cohort Studies, Cognition, 0302 clinical medicine, Cerebellum, Chromosome Duplication, Gene duplication, Copy-number variation, Non-U.S. Gov't, Child, 2. Zero hunger, Intelligence quotient, Research Support, Non-U.S. Gov't, Middle Aged, Psychiatry and Mental health, Microcephaly, Female, Schizophrenic Psychology, Chromosome Deletion, Psychology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Research Support, Nervous System Malformations, Article, Chromosomes, Young Adult, 03 medical and health sciences, Intellectual Disability, Journal Article, medicine, Humans, Autistic Disorder, Preschool, Psychiatry, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Epilepsy, Pair 16, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Case-control study, Autism Spectrum Disorder/epidemiology, Autism Spectrum Disorder/genetics, Autistic Disorder/epidemiology, Autistic Disorder/genetics, Case-Control Studies, Cerebellum/abnormalities, Child, Preschool, Chromosome Disorders/epidemiology, Chromosome Disorders/genetics, Chromosomes, Human, Pair 16/genetics, Developmental Disabilities/epidemiology, Developmental Disabilities/genetics, Epilepsy/epidemiology, Epilepsy/genetics, Intellectual Disability/epidemiology, Intellectual Disability/genetics, Microcephaly/epidemiology, Microcephaly/genetics, Nervous System Malformations/epidemiology, Nervous System Malformations/genetics, Schizophrenia/epidemiology, Schizophrenia/genetics, medicine.disease, 030104 developmental biology, Chromosomes, Human, Pair 16, Schizophrenia, Autism, Human medicine, 030217 neurology & neurosurgery
وصف الملف: image/pdf; pdf; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::221714038bda1846e56d6e2e8e45f87a
http://archpsyc.jamanetwork.com/article.aspx?articleid=2471269 -
9
المؤلفون: Maria Nicla Loviglio, Thomas Arbogast, Aia Elise Jønch, Stephan C. Collins, Konstantin Popadin, Camille S. Bonnet, Giuliana Giannuzzi, Anne M. Maillard, Sébastien Jacquemont, Binnaz Yalcin, Nicholas Katsanis, Christelle Golzio, Alexandre Reymond, Christina Fagerberg, Charlotte Brasch Andersen, Martine Doco-Fenzy, Marie-Ange Delrue, Laurence Faivre, Benoit Arveiler, David Geneviève, Anouck Schneider, Marion Gerard, Joris Andrieux, Salima El Chehadeh, Elise Schaefer, Christel Depienne, Mieke Van Haelst, Eva H. Brilstra, Ellen Van Binsbergen, Jeske van Harssel, Lars T. van der Veken, James F. Gusella, Yiping Shen, Elyse Mitchell, Usha Kini, Lara Hawkes, Carolyn Campbell, Florence Niel Butschi, Marie-Claude Addor, Jacques S. Beckmann
المساهمون: Université de Lausanne = University of Lausanne (UNIL), Duke University [Durham], Lausanne University Hospital, Centre for Integrative Biology - CBI (Inserm U964 - CNRS UMR7104 - IGBMC), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Immanuel Kant Baltic Federal University (IKBFU), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), 16p11.2 Consortium: Maria Nicla Loviglio, Aia Elise Jønch, Konstantin Popadin, Giuliana Giannuzzi, Anne M Maillard, Christina Fagerberg, Charlotte Brasch Andersen, Martine Doco-Fenzy, Marie-Ange Delrue, Laurence Faivre, Benoit Arveiler, David Geneviève, Anouck Schneider, Marion Gerard, Joris Andrieux, Salima El Chehadeh, Elise Schaefer, Christel Depienne, Mieke Van Haelst, Eva H Brilstra, Ellen Van Binsbergen, Jeske van Harssel, Lars T van der Veken, James F Gusella, Yiping Shen, Elyse Mitchell, Usha Kini, Lara Hawkes, Carolyn Campbell, Florence Niel Butschi, Marie-Claude Addor, Jacques S Beckmann, Sébastien Jacquemont, Alexandre Reymond., Dupuis, Christine, Amsterdam Reproduction & Development (AR&D), Human genetics, Amsterdam Neuroscience - Complex Trait Genetics
المصدر: American Journal of Human Genetics, 101(4), 564. Cell Press
16p11.2 Consortium 2017, ' The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs ', American Journal of Human Genetics, vol. 101, no. 4, pp. 564-577 . https://doi.org/10.1016/j.ajhg.2017.08.016
Loviglio, M N, Arbogast, T, Jønch, A E, Collins, S C, Popadin, K, Bonnet, C S, Giannuzzi, G, Maillard, A M, Jacquemont, S & 16p11.2 Consortium 2017, ' The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs ', American journal of human genetics, vol. 101, no. 4, pp. 564-577 . https://doi.org/10.1016/j.ajhg.2017.08.016
American Journal of Human Genetics
American Journal of Human Genetics, 2017, 101, pp.564-577. ⟨10.1016/j.ajhg.2017.08.016⟩
American journal of human genetics, 101(4), 564-577. Cell Pressمصطلحات موضوعية: Male, 0301 basic medicine, epistasis, Microcephaly, obesity, Embryo, Nonmammalian, Phosphoproteins/physiology, MAPK3, [SDV]Life Sciences [q-bio], Chromosome Disorders, Adaptor Proteins, Signal Transducing/genetics, zebrafish, Cohort Studies, Microcephaly/genetics, Mice, 0302 clinical medicine, Chromosome Disorders/genetics, Gene duplication, Genetics(clinical), Child, Zebrafish, Genetics (clinical), Aged, 80 and over, Mice, Knockout, Genetics, ZAP70, Brain, Gene Expression Regulation, Developmental, head size, Middle Aged, 16p11.2, Phenotype, Chromatin, [SDV] Life Sciences [q-bio], Child, Preschool, Knockout mouse, Female, Chromosomes, Human, Pair 16/genetics, Chromosome Deletion, Autistic Disorder/genetics, Signal Transduction, Adult, DNA Copy Number Variations, Adolescent, autism, Biology, Article, Young Adult, 03 medical and health sciences, Intellectual Disability, Zebrafish Proteins/genetics, medicine, Humans, Animals, Brain/metabolism, Autistic Disorder, Membrane Proteins/genetics, Adaptor Proteins, Signal Transducing, Aged, genome architecture, Membrane Proteins, Infant, Zebrafish Proteins, Phosphoproteins, medicine.disease, biology.organism_classification, Intellectual Disability/genetics, Mice, Inbred C57BL, 030104 developmental biology, Zebrafish/embryology, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery, Embryo, Nonmammalian/metabolism
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10دورية أكاديمية
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