المؤلفون: François Pattou, Robert Sladek, Flore Zufferey, Matthias Nauck, Kari Stefansson, Unnur Thorsteinsdottir, Robin G. Walters, Katrin Männik, Tõnu Esko, Sébastien Jacquemont, Peter Vollenweider, Jaana Laitinen, Adam J. de Smith, Claudia Schurmann, Danielle Martinet, Anna-Liisa Hartikainen, Gérard Waeber, David Meyre, Julia S. El-Sayed Moustafa, Armand Valsesia, Lachlan J. M. Coin, Philippe Froguel, Alexandra I. F. Blakemore, Henry Völzke, Marjo-Riitta Järvelin, Jacques S. Beckmann, Gudmar Thorleifsson, Aimo Ruokonen, Andres Metspalu, Paul Elliott, Beverley Balkau

المساهمون: Medical Research Council (MRC)

المصدر: Plos One, vol. 8, no. 3, pp. e58048
PLoS ONE, Vol 8, Iss 3, p e58048 (2013)
PLoS ONE

مصطلحات موضوعية: Male, False discovery rate, Heredity, Kinesins, lcsh:Medicine, Genome-wide association study, Adolescent Adult Aged Body Mass Index Child Child, Preschool *Chromosome Deletion Chromosomes, Human, Pair 16/*genetics Cohort Studies Female Forkhead Transcription Factors/genetics *Genetic Loci Genome-Wide Association Study Humans Kinesin/genetics Male Middle Aged Obesity/*genetics, Body Mass Index, Cohort Studies, HIDDEN-MARKOV MODEL, Missing heritability problem, WIDE ASSOCIATION, Copy-number variation, Child, lcsh:Science, Genetics, education.field_of_study, Multidisciplinary, Forkhead Transcription Factors, Kinesin, Genomics, Middle Aged, Child, Preschool, Cohort, Science & Technology - Other Topics, Medicine, Female, CHILDHOOD OBESITY, Chromosome Deletion, Research Article, Adult, CHROMOSOME 16P11.2, Adolescent, General Science & Technology, Clinical Research Design, Population, EARLY-ONSET, Biology, MD Multidisciplinary, Humans, COHORT, Obesity, education, SNP GENOTYPING DATA, Genetic Association Studies, COPY NUMBER VARIATION, Aged, Nutrition, Science & Technology, MULTIDISCIPLINARY SCIENCES, Complex Traits, lcsh:R, Computational Biology, Human Genetics, Odds ratio, BODY-MASS INDEX, CIRCULAR BINARY SEGMENTATION, Genetic Loci, Case-Control Studies, Genetics of Disease, Multiple comparisons problem, Structural Genomics, lcsh:Q, Chromosomes, Human, Pair 16, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93d91e305331af2048204730a8ad19cb
https://serval.unil.ch/notice/serval:BIB_0257103FC0D5

المؤلفون: Peter Vollenweider, Leena Peltonen, Audrey Labalme, Jessica L. Buxton, Alessandra Ferrarini, Dawn M. Waterworth, Sven Bergmann, Gérard Waeber, Marie Pigeyre, Sébastien Jacquemont, Vincent Mooser, Audrey Guilmatre, C. Lecoeur, Muriel Holder-Espinasse, Bettina Blaumeiser, Elena G. Bochukova, Ni Huang, Andrew Walley, Danielle Martinet, Peter Jacobson, B. Leheup, Marie-Pierre Lemaitre, A. Brioschi, Julia M. Keogh, Damien Sanlaville, Stephen O'Rahilly, Robert Sladek, Bruno Delobel, Fanny Stutzmann, Sophie Dupuis-Girod, Philippe Froguel, Muriel Gaillard, Anne Philippe, Katrin Männik, Jean-Marie Cuisset, M. Béri-Dexheimer, Lachlan J. M. Coin, Fei Chen, François Pattou, Katrin Õunap, Mari Nelis, A.-L. Hartikainen, Jean-Claude Chèvre, Philippe Jonveaux, Alice Goldenberg, Kay D. MacDermot, Elana Henning, Odile Boute, Sonia Bouquillon, Armand Valsesia, Valérie Malan, Stéphane Lobbens, R. F. Kooy, Alexandra I. F. Blakemore, Marie-Pierre Cordier, Lena M. S. Carlsson, Marjo-Riitta Järvelin, Lars Sjöström, Paul Elliott, C Le Caignec, Florence Fellmann, Nadège Calmels, Dominique Campion, M. M. van Haelst, Vincent Vatin, B. Balkau, Jacques S. Beckmann, Mark I. McCarthy, Robert Caiazzo, Jean-Louis Mandel, Joris Andrieux, Nouchine Hadjikhani, Catherine Vincent-Delorme, David Meyre, Ants Kurg, J. S. El-Sayed Moustafa, Johanna C. Andersson, Jean Chiesa, Michèle Mathieu-Dramard, R. Touraine, Tõnu Esko, Albert David, Alexandre Reymond, Priit Palta, Ghislaine Plessis, Andres Metspalu, Robin G. Walters, Vittorio Giusti, Richard J. Ellis, Bertrand Isidor, Anne-Emmanuelle Ambresin, A J de Smith, I. S. Farooqi, Matthew E. Hurles, Mario Falchi

المساهمون: Medical Research Council (MRC), Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Other departments

المصدر: Nature, 463(7281), 671-5. Nature Publishing Group
Nature
Nature, vol. 463, no. 7281, pp. 671-675
Nature; Vol 463
Walters, R G, Jacquemont, S, Valsesia, A, de Smith, A J, Martinet, D, Andersson, J, Falchi, M, Chen, F, Andrieux, J, Lobbens, S, Delobel, B, Stutzmann, F, El-Sayed Moustafa, J S, Chèvre, J-C, Lecoeur, C, Vatin, V, Bouquillon, S, Buxton, J L, Boute, O, Holder-Espinasse, M, Cuisset, J-M, Lemaitre, M-P, Ambresin, A-E, Brioschi, A, Gaillard, M, Giusti, V, Fellmann, F, Ferrarini, A, Hadjikhani, N, Campion, D, Guilmatre, A, Goldenberg, A, Calmels, N, Mandel, J-L, Le Caignec, C, David, A, Isidor, B, Cordier, M-P, Dupuis-Girod, S, Labalme, A, Sanlaville, D, Béri-Dexheimer, M, Jonveaux, P, Leheup, B, Ounap, K, Bochukova, E G, Henning, E, Keogh, J, Ellis, R J, Macdermot, K D, van Haelst, M M, Vincent-Delorme, C, Plessis, G, Touraine, R, Philippe, A, Malan, V, Mathieu-Dramard, M, Chiesa, J, Blaumeiser, B, Kooy, R F, Caiazzo, R, Pigeyre, M, Balkau, B, Sladek, R, Bergmann, S, Mooser, V, Waterworth, D, Reymond, A, Vollenweider, P, Waeber, G, Kurg, A, Palta, P, Esko, T, Metspalu, A, Nelis, M, Elliott, P, Hartikainen, A-L, McCarthy, M I, Peltonen, L, Carlsson, L, Jacobson, P, Sjöström, L, Huang, N, Hurles, M E, O'Rahilly, S, Farooqi, I S, Männik, K, Jarvelin, M-R, Pattou, F, Meyre, D, Walley, A J, Coin, L J M, Blakemore, A I F, Froguel, P & Beckmann, J S 2010, ' A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 ', Nature, vol. 463, no. 7281, pp. 671-5 . https://doi.org/10.1038/nature08727
Nature, 463(7281), 671-U104. Nature Publishing Group

مصطلحات موضوعية: Male, Aging, SAMPLE, Inheritance Patterns, Genome-wide association study, Penetrance, MC4R, Body Mass Index, Cohort Studies, 0302 clinical medicine, SH2B1, Missing heritability problem, Age of Onset, Child, 2. Zero hunger, Genetics, 0303 health sciences, education.field_of_study, Sex Characteristics, Multidisciplinary, Mental-Retardation, Adolescent Adult Age of Onset Aging Body Mass Index Case-Control Studies Child *Chromosome Deletion Chromosomes, Human, Pair 16/*genetics Cognition Disorders/complications/genetics Cohort Studies Europe Female Genome-Wide Association Study Heterozygote Humans Inheritance Patterns/genetics Male Mutation/genetics Obesity/complications/*genetics/*physiopathology *Penetrance Reproducibility of Results Sex Characteristics Young Adult, 3. Good health, Multidisciplinary Sciences, Europe, Adolescent, Adult, Case-Control Studies, Chromosome Deletion, Chromosomes, Human, Pair 16/genetics, Cognition Disorders/complications, Cognition Disorders/genetics, Female, Genome-Wide Association Study, Heterozygote, Humans, Inheritance Patterns/genetics, Mutation/genetics, Obesity/complications, Obesity/genetics, Obesity/physiopathology, Reproducibility of Results, Young Adult, Medical genetics, Science & Technology - Other Topics, CHILDHOOD OBESITY, medicine.medical_specialty, Childhood Obesity, BIRTH, General Science & Technology, Population, Single-nucleotide polymorphism, Biology, Article, Childhood obesity, 03 medical and health sciences, medicine, MICRODELETION, Obesity, GENOME-WIDE ASSOCIATION, AUTISM, education, 030304 developmental biology, COPY NUMBER VARIATION, Science & Technology, MULTIDISCIPLINARY SCIENCES, FRAMESHIFT MUTATION, Individuals, medicine.disease, RISK LOCI, INDIVIDUALS, CIRCULAR BINARY SEGMENTATION, Mutation, Human medicine, Cognition Disorders, MENTAL-RETARDATION, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 16

وصف الملف: application/pdf; pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f35a49847e321d4ca01f15aef737ad7d
http://ora.ox.ac.uk/objects/uuid:f0001a16-0ea7-4f93-a4a3-7fe79cafe6ed

المؤلفون: K L Tsun, Ui-Soon Khoo, H Y S Ngan, B S Y Leung, P M Chiu, Annie N.Y. Cheung

المصدر: Journal of clinical pathology. 57(7)

مصطلحات موضوعية: Telomerase, Pathology, medicine.medical_specialty, Uterine Cervical Neoplasms, Uterine cervical neoplasms - diagnosis - genetics, Context (language use), Cervical intraepithelial neoplasia, Pathology and Forensic Medicine, Immunoenzyme Techniques, Chromosomes, human, pair 11 - genetics, Chromosomes, human, pair 16 - genetics, Cytology, medicine, Carcinoma, Biomarkers, Tumor, Humans, CISH, In Situ Hybridization, Vaginal Smears, biology, Chromosomes, Human, Pair 11, General Medicine, Original Articles, medicine.disease, Uterine Cervical Dysplasia, Molecular biology, Koilocyte, Ki-67 Antigen, Ki-67, biology.protein, Carcinoma, Squamous Cell, Female, Tumor markers, biological - metabolism, In situ hybridization - methods, Chromosomes, Human, Pair 16

وصف الملف: 196203 bytes; 3013 bytes; application/pdf; text/plain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37b64eb102dc26e27fb599fa1dd608ea
https://pubmed.ncbi.nlm.nih.gov/15220365

المؤلفون: Gustavsson, Peter, Schoumans, Jacqueline, Staaf, Johan, Borg, Åke, Nordenskjöld, Magnus, Annerén, Göran

مصطلحات الفهرس: Child, Chromosome Aberrations, Chromosomes; Human; Pair 16/*genetics, Female, Humans, In Situ Hybridization; Fluorescence, Karyotyping, Mental Retardation/genetics, Nucleic Acid Hybridization, Oligonucleotide Array Sequence Analysis, Phenotype, Spinal Dysraphism/*genetics, Medical and Health Sciences, Medicin och hälsovetenskap, Article in journal, info:eu-repo/semantics/article, text

URL: http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-13683
European Journal of Medical Genetics, 1769-7212, 2007, 50:3, s. 237-241