المؤلفون: Basamat Almoallem, Gavin Arno, Anne Destree, Elfride De Baere, Denise Williams, Anthony T. Moore, Thomy de Ravel, Ingele Casteels, Andrew R. Webster, Sarah Hull, Irina Balikova, Bart P. Leroy, Martina Suzani, Julie De Zaeytijd, John R. Ainsworth, Hannah Verdin, Michelle Y. Peng

المساهمون: Medical Genetics

المصدر: Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Scientific reports, vol 10, iss 1
SCIENTIFIC REPORTS

مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Medicine, Gene mutation, PHENOTYPE, Compound heterozygosity, Microphthalmia, Cohort Studies, Exon, 0302 clinical medicine, Genotype, Medicine and Health Sciences, 2.1 Biological and endogenous factors, Microphthalmos, Aetiology, lcsh:Science, Child, Genetics, Multidisciplinary, Molecular medicine, ASSOCIATION, Middle Aged, Disease gene identification, Microphthalmos/genetics, Child, Preschool, Female, FRIZZLED-RELATED PROTEIN, Adult, Serine Proteases/genetics, Heterozygote, Adolescent, DNA Copy Number Variations, Biology, Article, 03 medical and health sciences, Clinical Research, RETINITIS-PIGMENTOSA, GENE MUTATION, Retinitis pigmentosa, medicine, Humans, Family, Allele, Membrane Proteins/genetics, Preschool, Alleles, Aged, IDENTIFICATION, Whole Genome Sequencing, HIGH HYPEROPIA, lcsh:R, Membrane Proteins, Hereditary eye disease, medicine.disease, Brain Disorders, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, FOVEOSCHISIS, lcsh:Q, Serine Proteases

وصف الملف: application/pdf; Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c67f6b56f74c44ecf74e0f3c5839b48Test
https://pubmed.ncbi.nlm.nih.gov/31992737Test

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.2017.08.016Test
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.2017.08.016Test
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 Press

مصطلحات 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

وصف الملف: image/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebaf471f9fd4279d6c31620bc28af05eTest
https://dspace.library.uu.nl/handle/1874/362409Test

المؤلفون: Bart De Strooper, Claudia Bagni, Monica Di Luca, Sébastien Jacquemont, Ulrike Müller, Flora Tassone, Rudi D'Hooge, Detlef Balschun, Tariq Ahmed, Carlos G. Dotti, Laura Pacini, Zsuzsanna Callaerts-Vegh, Tina Wahle, Fabrizio Gardoni, Emanuela Pasciuto, Laura D'Andrea

المساهمون: University of Leuven, Associazione Italiana Sindrome X Fragile, Fondation Recherche Alzheimer, European Research Council, German Research Foundation, Compagnia di San Paolo, European Commission, Flanders Institute for Biotechnology, Neurology

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Neuron

مصطلحات موضوعية: Male, MAPK/ERK pathway, Time Factors, ADAM Proteins/genetics, ADAM10, Synaptogenesis, Inbred C57BL, Green Fluorescent Proteins/genetics, Transgenic, ADAM10 Protein, Amyloid beta-Protein Precursor, Mice, ADAM Proteins, Adolescent, Adult, Age Factors, Amyloid Precursor Protein Secretases, Animals, Animals, Newborn, Cells, Cultured, Cerebral Cortex, Child, Female, Fragile X Syndrome, Gene Expression Regulation, Green Fluorescent Proteins, Humans, Membrane Proteins, Mice, Inbred C57BL, Mice, Transgenic, Neurons, Synapses, Young Adult, 0302 clinical medicine, Medicine(all), Amyloid Precursor Protein Secretases/genetics, 0303 health sciences, Cultured, General Neuroscience, Settore BIO/13, Amyloid beta-Protein Precursor/metabolism, Phenotype, 3. Good health, Fragile X syndrome, Fragile X Syndrome/genetics, Psychology, Cerebral Cortex/cytology, congenital, hereditary, and neonatal diseases and abnormalities, Cells, Neuroscience(all), Gene Expression Regulation/genetics, 03 medical and health sciences, Downregulation and upregulation, mental disorders, medicine, Membrane Proteins/genetics, 030304 developmental biology, Newborn, medicine.disease, Neurons/drug effects, nervous system diseases, Metabotropic receptor, Synapses/pathology, Neuroscience, 030217 neurology & neurosurgery, Function (biology)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef16ee38b2f96b11051f7114593b71f4Test
https://doi.org/10.1016/j.neuron.2015.06.032Test

المؤلفون: Emmi Tikkanen, Pascal Guénel, Rico Rueedi, Hamdi Mbarek, Gerardo Heiss, Hilary K. Finucane, Jing Hua Zhao, Peter K. Joshi, Mark I. McCarthy, Frank B. Hu, Stephen J. Chanock, Manjeet K. Bolla, Sandosh Padmanabhan, Vilmundur Gudnason, Chunyan He, Aarno Palotie, Reedik Mägi, Joe Dennis, Nicholas G. Martin, Behrooz Z. Alizadeh, Elisabeth Widen, Caroline Hayward, Penelope A. Lind, Magdalena Zoledziewska, Ayellet V. Segrè, Fergus J. Couch, Massimo Mangino, Melissa C. Southey, Immaculata De Vivo, Yongmei Liu, Ute Hamann, Angela Cox, Maartje J. Hooning, Iffat Rahman, Mitul Shah, Eric Boerwinkle, Matthias W. Beckmann, Catharina A. Hartman, Tanguy Corre, Kathryn L. Lunetta, Thérèse Truong, Anna Marie Mulligan, Caterina Barbieri, Robert Winqvist, Lili Milani, Cristina Menni, Frits R. Rosendaal, Pau Navarro, Christian Gieger, Ken K. Ong, Stig E. Bojesen, Susan M. Ring, Marjanka K. Schmidt, George McMahon, Deborah J. Thompson, Robert Karlsson, Nicholas J. Timpson, M. Arfan Ikram, Alexander Teumer, Jingmei Li, Christa Meisinger, Diana L. Cousminer, Doris Stöckl, Heli Nevanlinna, Teresa Nutile, Tim D. Spector, Eva Albrecht, Murielle Bochud, Linda Broer, Felix R. Day, Sven Bergmann, Renée de Mutsert, Nicholas J. Wareham, Marjo-Riitta Järvelin, Marzyeh Amini, Elisabeth Altmaier, Isabel dos-Santos-Silva, Peter Vollenweider, Douglas F. Easton, Tamara B. Harris, Ellen A. Nohr, Paul D.P. Pharoah, David J. Porteous, Jenny A. Visser, Ilja M. Nolte, Genevieve Lachance, Thomas Meitinger, Archie Campbell, Thomas Brüning, Graham G. Giles, Johan G. Eriksson, Nancy L. Pedersen, George Davey Smith, Gonneke Willemsen, Joanne M. Murabito, Francesco Cucca, Daniel I. Chasman, Eleonora Porcu, Nora Franceschini, Thibaud Boutin, Ulla Sovio, Roger L. Milne, Annette Peters, Lisette Stolk, Paul M. Ridker, Claudia Langenberg, Patrick Sulem, Toshiko Tanaka, Marike Gabrielson, Judith S. Brand, Unnur Thorsteindottir, Alison M. Dunning, Marina Ciullo, Julie E. Buring, Harold Snieder, Lude Franke, Meir J. Stampfer, Po-Ru Loh, Julian Peto, Ellen W. Demerath, Sheila Ulivi, Ivana Kolcic, Maristella Steri, Jouke J. Hottenga, Amanda B. Spurdle, Tõnu Esko, Katherine S. Pollard, Eulalia Catamo, Anneli Pouta, Kyriaki Michailidou, Dieter Flesch-Janys, James F. Wilson, Kamila Czene, Sean Whalen, Diether Lambrechts, Abhishek Sarkar, Laura Crisponi, Jonathan Tyrer, Antonietta Robino, Sara Lindström, Harald Grallert, Stefania Lenarduzzi, Peter Kraft, Patrik K. E. Magnusson, Lavinia Paternoster, Digna R. Velez Edwards, Mike A. Nalls, Per Hall, Joyce Y. Tung, Cinzia Sala, Lindsay Fernández-Rhodes, Ayush Giri, Hiltrud Brauch, André G. Uitterlinden, Alkes L. Price, Tracy A. O'Mara, Lynda M. Rose, John L. Hopper, David A. Hinds, Katherine S. Ruth, Arto Mannermaa, Uwe Völker, Rossella Sorice, Zoltán Kutalik, Debbie A Lawlor, Georgia Chenevix-Trench, Anna Murray, Albertine J. Oldehinkel, Bruce H. R. Wolffenbuttel, Hae Kyung Im, Dale R. Nyholt, Lenore J. Launer, Andres Metspalu, Irene L. Andrulis, Konstantin Strauch, Albert V. Smith, Daniela Toniolo, Eco J. C. de Geus, Jenny Chang-Claude, Marek Zygmunt, Dorret I. Boomsma, Harry Campbell, Peter Devilee, Henry Völzke, Daniela Ruggiero, Dennis O. Mook-Kanamori, John R. B. Perry, Javier Benitez, Grant W. Montgomery, David J. Hunter, David Karasik, Luigi Ferrucci, Emily Hallberg, Stefania Bandinelli, Hermann Brenner, Raymond Noordam, Sarah E. Medland, Peter A. Fasching, Qin Wang, Ilaria Gandin, Manolis Kellis, Hannes Helgason, Igor Rudan, Paolo Radice, Michela Traglia, Jian'an Luan, Robert A. Scott, Brumat Marco, Veronique Vitart, Kari Stefansson, Katharina E. Schraut, Ko Willems van Dijk, Ozren Polasek, Daniel F. Gudbjartsson, Natalia Perjakova, Joop S.E. Laven

المساهمون: Life Course Epidemiology (LCE), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Lifestyle Medicine (LM), Center for Liver, Digestive and Metabolic Diseases (CLDM), Stem Cell Aging Leukemia and Lymphoma (SALL), Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET), Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Mental Health, APH - Methodology, Art and Culture, History, Antiquity, Day, Felix R., Thompson, Deborah J., Helgason, Hanne, Chasman, Daniel I., Finucane, Hilary, Sulem, Patrick, Ruth, Katherine S., Whalen, Sean, Sarkar, Abhishek K., Albrecht, Eva, Altmaier, Elisabeth, Amini, Marzyeh, Barbieri, CATERINA MARIA, Boutin, Thibaud, Campbell, Archie, Demerath, Ellen, Giri, Ayush, He, Chunyan, Hottenga, Jouke J., Karlsson, Robert, Kolcic, Ivana, Loh, Po Ru, Lunetta, Kathryn L., Mangino, Massimo, Brumat, Marco, Mcmahon, George, Medland, Sarah E., Nolte, Ilja M., Noordam, Raymond, Nutile, Teresa, Paternoster, Lavinia, Perjakova, Natalia, Porcu, Eleonora, Rose, Lynda M., Schraut, Katharina E., Segrã¨, Ayellet V., Smith, Albert V., Stolk, Lisette, Teumer, Alexander, Andrulis, Irene L., Bandinelli, Stefania, Beckmann, Matthias W., Benitez, Javier, Bergmann, Sven, Bochud, Murielle, Boerwinkle, Eric, Bojesen, Stig E., Bolla, Manjeet K., Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Broer, Linda, Brã¼ning, Thoma, Buring, Julie E., Campbell, Harry, Catamo, Eulalia, Chanock, Stephen, Chenevix Trench, Georgia, Corre, Tanguy, Couch, Fergus J., Cousminer, Diana L., Cox, Angela, Crisponi, Laura, Czene, Kamila, Davey Smith, George, De Geus, Eco J. C. N., De Mutsert, Renã©e, De Vivo, Immaculata, Dennis, Joe, Devilee, Peter, Dos Santos Silva, Isabel, Dunning, Alison M., Eriksson, Johan G., Fasching, Peter A., Fernández Rhodes, Lindsay, Ferrucci, Luigi, Flesch Janys, Dieter, Franke, Lude, Gabrielson, Marike, Gandin, Ilaria, Giles, Graham G., Grallert, Harald, Gudbjartsson, Daniel F., Guã©nel, Pascal, Hall, Per, Hallberg, Emily, Hamann, Ute, Harris, Tamara B., Hartman, Catharina A., Heiss, Gerardo, Hooning, Maartje J., Hopper, John L., Hu, Frank, Hunter, David J., Ikram, M. Arfan, Im, Hae Kyung, Jã¤rvelin, Marjo Riitta, Joshi, Peter K., Karasik, David, Kellis, Manoli, Kutalik, Zoltan, Lachance, Genevieve, Lambrechts, Diether, Langenberg, Claudia, Launer, Lenore J., Laven, Joop S. E., Lenarduzzi, Stefania, Li, Jingmei, Lind, Penelope A., Lindstrom, Sara, Liu, Yongmei, Luan, Jian'An, Mã¤gi, Reedik, Mannermaa, Arto, Mbarek, Hamdi, Mccarthy, Mark I., Meisinger, Christa, Meitinger, Thoma, Menni, Cristina, Metspalu, Andre, Michailidou, Kyriaki, Milani, Lili, Milne, Roger L., Montgomery, Grant W., Mulligan, Anna M., Nalls, Mike A., Navarro, Pau, Nevanlinna, Heli, Nyholt, Dale R., Oldehinkel, Albertine J., O'Mara, Tracy A., Padmanabhan, Sandosh, Palotie, Aarno, Pedersen, Nancy, Peters, Annette, Peto, Julian, Pharoah, Paul D. P., Pouta, Anneli, Radice, Paolo, Rahman, Iffat, Ring, Susan M., Robino, Antonietta, Rosendaal, Frits R., Rudan, Igor, Rueedi, Rico, Ruggiero, Daniela, Sala, Cinzia F., Schmidt, Marjanka K., Scott, Robert A., Shah, Mitul, Sorice, Rossella, Southey, Melissa C., Sovio, Ulla, Stampfer, Meir, Steri, Maristella, Strauch, Konstantin, Tanaka, Toshiko, Tikkanen, Emmi, Timpson, Nicholas J., Traglia, Michela, Truong, Thã©rã¨se, Tyrer, Jonathan P., Uitterlinden, André G., Edwards, Digna R. Velez, Vitart, Veronique, Vã¶lker, Uwe, Vollenweider, Peter, Wang, Qin, Widen, Elisabeth, Van Dijk, Ko Willem, Willemsen, Gonneke, Winqvist, Robert, Wolffenbuttel, Bruce H. R., Zhao, Jing Hua, Zoledziewska, Magdalena, Zygmunt, Marek, Alizadeh, Behrooz Z., Boomsma, Dorret I., Ciullo, Marina, Cucca, Francesco, Esko, Tãµnu, Franceschini, Nora, Gieger, Christian, Gudnason, Vilmundur, Hayward, Caroline, Kraft, Peter, Lawlor, Debbie A., Magnusson, Patrik K. E., Martin, Nicholas G., Mook Kanamori, Dennis O., Nohr, Ellen A., Polasek, Ozren, Porteous, David, Price, Alkes L., Ridker, Paul M., Snieder, Harold, Spector, Tim D., Stã¶ckl, Dori, Toniolo, Daniela, Ulivi, Sheila, Visser, Jenny A., Vã¶lzke, Henry, Wareham, Nicholas J., Wilson, James F., LifeLines Cohort, Study, Interact, Consortium, Kconfab/aocs, Investigator, Endometrial Cancer Association, Consortium, Ovarian Cancer Association, Consortium, Practical, Consortium, Spurdle, Amanda B., Thorsteindottir, Unnur, Pollard, Katherine S., Easton, Douglas F., Tung, Joyce Y., Chang Claude, Jenny, Hinds, David, Murray, Anna, Murabito, Joanne M., Stefansson, Kari, Ong, Ken K., Perry, John R. B., Internal Medicine, Erasmus MC other, Medical Oncology, Epidemiology, Obstetrics & Gynecology, Day, Felix [0000-0003-3789-7651], Thompson, Deborah [0000-0003-1465-5799], Dennis, Joe [0000-0003-4591-1214], Dunning, Alison [0000-0001-6651-7166], Langenberg, Claudia [0000-0002-5017-7344], Luan, Jian'an [0000-0003-3137-6337], Pharoah, Paul [0000-0001-8494-732X], Sovio, Ulla [0000-0002-0799-1105], Tyrer, Jonathan [0000-0003-3724-4757], Zhao, Jing Hua [0000-0003-4930-3582], Wareham, Nicholas [0000-0003-1422-2993], Easton, Douglas [0000-0003-2444-3247], Ong, Kenneth [0000-0003-4689-7530], Perry, John [0000-0001-6483-3771], Apollo - University of Cambridge Repository, Massachusetts Institute of Technology. Department of Mathematics, Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory

المصدر: Nature Genetics
Nature Genetics, 49(6), 834-841. Nature Publishing Group
Nature Genetics, 49(6), 834
Nature Genetics, 49(6), 834-+. Nature Publishing Group
PMC
Day, F R, Thompson, D J, Helgason, H, Chasman, D I, Finucane, H, Sulem, P, Ruth, K S, Whalen, S, Sarkar, A K, Albrecht, E, Altmaier, E, Amini, M, Barbieri, C M, Boutin, T, Campbell, A, Demerath, E, Giri, A, He, C, Hottenga, J J, Karlsson, R, Kolcic, I, Loh, P-R, Lunetta, K L, Mangino, M, Marco, B, McMahon, G, Medland, S E, Nolte, I M, Noordam, R, Nutile, T, Paternoster, L, Perjakova, N, Porcu, E, Rose, L M, Schraut, K E, Segrè, A V, Smith, A V, Stolk, L, Teumer, A, Andrulis, I L, Bandinelli, S, Beckmann, M W, Benitez, J, Bergmann, S, Bochud, M, Boerwinkle, E, Bojesen, S E, Bolla, M K, Brand, J S, Nohr, E A & Lifelines Cohort Study 2017, ' Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk ', Nature Genetics, vol. 49, no. 6, pp. 834–841 . https://doi.org/10.1038/ng.3841Test
Day, F R, Thompson, D J, Helgason, H, Chasman, D I, Finucane, H, Sulem, P, Ruth, K S, Whalen, S, Sarkar, A K, Albrecht, E, Altmaier, E, Amini, M, Barbieri, C M, Boutin, T, Campbell, A, Demerath, E, Giri, A, He, C, Hottenga, J J, Karlsson, R, Kolcic, I, Loh, P-R, Lunetta, K L, Mangino, M, Marco, B, McMahon, G, Medland, S E, Nolte, I M, Noordam, R, Nutile, T, Paternoster, L, Perjakova, N, Porcu, E, Rose, L M, Schraut, K E, Segrè, A V, Smith, A V, Stolk, L, Teumer, A, Andrulis, I L, Bandinelli, S, Beckmann, M W, Benitez, J, Bergmann, S, Bochud, M, de Geus, E J C N, Mbarek, H, Willemsen, G, Boomsma, D I, Visser, J A & LifeLines Cohort Study 2017, ' Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk ', Nature Genetics, vol. 49, no. 6, pp. 834-841 . https://doi.org/10.1038/ng.3841Test
Day, FR; Thompson, DJ; Helgason, H; Chasman, DI; Finucane, H; Sulem, P; et al.(2017). Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. NATURE GENETICS, 49(6), 834-+. doi: 10.1038/ng.3841. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/8gn0n3qqTest
Day, F R, Thompson, D J, Helgason, H, Chasman, D I, Finucane, H, Sulem, P, Ruth, K S, Whalen, S, Sarkar, A K, Albrecht, E, Altmaier, E, Amini, M, Barbieri, C M, Boutin, T, Campbell, A, Demerath, E, Giri, A, He, C, Hottenga, J J, Karlsson, R, Kolcic, I, Loh, P, Lunetta, K L, Mangino, M, Marco, B, Mcmahon, G, Medland, S E, Nolte, I M, Noordam, R, Nutile, T, Paternoster, L, Perjakova, N, Porcu, E, Rose, L M, Schraut, K E, Segrè, A V, Smith, A V, Stolk, L, Teumer, A, Andrulis, I L, Bandinelli, S, Beckmann, M W, Benitez, J, Bergmann, S, Bochud, M, Boerwinkle, E, Bojesen, S E, Bolla, M K, Brand, J S, Brauch, H, Brenner, H, Broer, L, Brüning, T, Buring, J E, Campbell, H, Catamo, E, Chanock, S, Chenevix-trench, G, Corre, T, Couch, F J, Cousminer, D L, Cox, A, Crisponi, L, Czene, K, Davey Smith, G, De Geus, E J C N, De Mutsert, R, De Vivo, I, Dennis, J, Devilee, P, Dos-santos-silva, I, Dunning, A M, Eriksson, J G, Fasching, P A, Fernández-rhodes, L, Ferrucci, L, Flesch-janys, D, Franke, L, Gabrielson, M, Gandin, I, Giles, G G, Grallert, H, Gudbjartsson, D F, Guénel, P, Hall, P, Hallberg, E, Hamann, U, Harris, T B, Hartman, C A, Heiss, G, Hooning, M J, Hopper, J L, Hu, F, Hunter, D J, Ikram, M A, Im, H K, Järvelin, M, Joshi, P K, Karasik, D, Kellis, M, Kutalik, Z, Lachance, G, Lambrechts, D, Langenberg, C, Launer, L J, Laven, J S E, Lenarduzzi, S, Li, J, Lind, P A, Lindstrom, S, Liu, Y, Luan, J, Mägi, R, Mannermaa, A, Mbarek, H, Mccarthy, M I, Meisinger, C, Meitinger, T, Menni, C, Metspalu, A, Michailidou, K, Milani, L, Milne, R L, Montgomery, G W, Mulligan, A M, Nalls, M A, Navarro, P, Nevanlinna, H, Nyholt, D R, Oldehinkel, A J, O'mara, T A, Padmanabhan, S, Palotie, A, Pedersen, N, Peters, A, Peto, J, Pharoah, P D P, Pouta, A, Radice, P, Rahman, I, Ring, S M, Robino, A, Rosendaal, F R, Rudan, I, Rueedi, R, Ruggiero, D, Sala, C F, Schmidt, M K, Scott, R A, Shah, M, Sorice, R, Southey, M C, Sovio, U, Stampfer, M, Steri, M, Strauch, K, Tanaka, T, Tikkanen, E, Timpson, N J, Traglia, M, Truong, T, Tyrer, J P, Uitterlinden, A G, Edwards, D R V, Vitart, V, Völker, U, Vollenweider, P, Wang, Q, Widen, E, Van Dijk, K W, Willemsen, G, Winqvist, R, Wolffenbuttel, B H R, Zhao, J H, Zoledziewska, M, Zygmunt, M, Alizadeh, B Z, Boomsma, D I, Ciullo, M, Cucca, F, Esko, T, Franceschini, N, Gieger, C, Gudnason, V, Hayward, C, Kraft, P, Lawlor, D A, Magnusson, P K E, Martin, N G, Mook-kanamori, D O, Nohr, E A, Polasek, O, Porteous, D, Price, A L, Ridker, P M, Snieder, H, Spector, T D, Stöckl, D, Toniolo, D, Ulivi, S, Visser, J A, Völzke, H, Wareham, N J, Wilson, J F, Spurdle, A B, Thorsteindottir, U, Pollard, K S, Easton, D F, Tung, J Y, Chang-claude, J, Hinds, D, Murray, A, Murabito, J M, Stefansson, K, Ong, K K & Perry, J R B 2017, ' Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk ', Nature Genetics, vol. 49, pp. 834-841 . https://doi.org/10.1038/ng.3841Test
Day, F R, et al. & Perry, J R B 2017, ' Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk ', Nature Genetics, vol. 49, no. 6, pp. 834-841 . https://doi.org/10.1038/ng.3841Test
Nature genetics
49 (2017): 834–841. doi:10.1038/ng.3841
info:cnr-pdr/source/autori:Day F.R.; Thompson D.J.; Helgason H.; Chasman D.I.; Finucane H.; Sulem P.; Ruth K.S.; Whalen S.; Sarkar A.K.; Albrecht E.; Altmaier E.; Amini M.; Barbieri C.M.; Boutin T.; Campbell A.; Demerath E.; Giri A.; He C.; Hottenga J.J.; Karlsson R.; Kolcic I.; Loh P.-R.; Lunetta K.L.; Mangino M.; Marco B.; McMahon G.; Medland S.E.; Nolte I.M.; Noordam R.; Nutile T.; Paternoster L.; Perjakova N.; Porcu E.; Rose L.M.; Schraut K.E.; Segre A.V.; Smith A.V.; Stolk L.; Teumer A.; Andrulis I.L.; Bandinelli S.; Beckmann M.W.; Benitez J.; Bergmann S.; Bochud M.; Boerwinkle E.; Bojesen S.E.; Bolla M.K.; Brand J.S.; Brauch H.; Brenner H.; Broer L.; Bruning T.; Buring J.E.; Campbell H.; Catamo E.; Chanock S.; Chenevix-Trench G.; Corre T.; Couch F.J.; Cousminer D.L.; Cox A.; Crisponi L.; Czene K.; Davey Smith G.; De Geus E.J.C.N.; De Mutsert R.; De Vivo I.; Dennis J.; Devilee P.; Dos-Santos-Silva I.; Dunning A.M.; Eriksson J.G.; Fasching P.A.; Fernandez-Rhodes L.; Ferrucci L.; Flesch-Janys D.; Franke L.; Gabrielson M.; Gandin I.; Giles G.G.; Grallert H.; Gudbjartsson D.F.; Guenel P.; Hall P.; Hallberg E.; Hamann U.; Harris T.B.; Hartman C.A.; Heiss G.; Hooning M.J.; Hopper J.L.; Hu F.; Hunter D.J.; Ikram M.A.; Im H.K.; Jarvelin M.-R.; Joshi P.K.; Karasik D.; Kellis M.; Kutalik Z.; Lachance G.; Lambrechts D.; Langenberg C.; Launer L.J.; Laven J.S.E.; Lenarduzzi S.; Li J.; Lind P.A.; Lindstrom S.; Liu Y.; Luan J.; Magi R.; Mannermaa A.; Mbarek H.; McCarthy M.I.; Meisinger C.; Meitinger T.; Menni C.; Metspalu A.; Michailidou K.; Milani L.; Milne R.L.; Montgomery G.W.; Mulligan A.M.; Nalls M.A.; Navarro P.; Nevanlinna H.; Nyholt D.R.; Oldehinkel A.J.; O'Mara T.A.; Padmanabhan S.; Palotie A.; Pedersen N.; Peters A.; Peto J.; Pharoah P.D.P.; Pouta A.; Radice P.; Rahman I.; Ring S.M.; Robino A.; Rosendaal F.R.; Rudan I.; Rueedi R.; Ruggiero D.; Sala C.F.; Schmidt M.K.; Scott R.A.; Shah M.; Sorice R.; Southey M.C.; Sovio U.; Stampfer M.; Steri M.; Strauch K.; Tanaka T.; Tikkanen E.; Timpson N.J.; Traglia M.; Truong T.; Tyrer J.P.; Uitterlinden A.G.; Edwards D.R.V.; Vitart V.; Volker U.; Vollenweider P.; Wang Q.; Widen E.; Van Dijk K.W.; Willemsen G.; Winqvist R.; Wolffenbuttel B.H.R.; Zhao J.H.; Zoledziewska M.; Zygmunt M.; Alizadeh B.Z.; Boomsma D.I.; Ciullo M.; Cucca F.; Esko T.; Franceschini N.; Gieger C.; Gudnason V.; Hayward C.; Kraft P.; Lawlor D.A.; Magnusson P.K.E.; Martin N.G.; Mook-Kanamori D.O.; Nohr E.A.; Polasek O.; Porteous D.; Price A.L.; Ridker P.M.; Snieder H.; Spector T.D.; Stockl D.; Toniolo D.; Ulivi S.; Visser J.A.; Volzke H.; Wareham N.J.; Wilson J.F.; Spurdle A.B.; Thorsteindottir U.; Pollard K.S.; Easton D.F.; Tung J.Y.; Chang-Claude J.; Hinds D.; Murray A.; Murabito J.M.; Stefansson K.; Ong K.K.; Perry J.R.B./titolo:Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk/doi:10.1038%2Fng.3841/rivista:Nature genetics (Print)/anno:2017/pagina_da:834/pagina_a:841/intervallo_pagine:834–841/volume:49

مصطلحات موضوعية: 0301 basic medicine, Male, Netherlands Twin Register (NTR), Ovarian Cancer Association Consortium, LOCI, Genome-wide association study, cancer risk, Menarche/genetics, Bioinformatics, GWAS, menarche, puberty, Body Mass Index, Risk Factors, Neoplasms, Databases, Genetic, WIDE ASSOCIATION, Endometrial Cancer Association Consortium, Ribonucleoproteins/genetics, 2. Zero hunger, Genetics, Age Factors, Genetics GWAS menarche, reproductive disorders, Neoplasms/genetics, 3. Good health, Ribonucleoproteins, Menarche, MENDELIAN RANDOMIZATION, Intercellular Signaling Peptides and Proteins, GROWTH, Female, TRAITS, Population variance, Intercellular Signaling Peptides and Proteins/genetics, Adolescent, Ubiquitin-Protein Ligases, kConFab/AOCS Investigators, Quantitative Trait Loci, Quantitative trait locus, Biology, METABOLISM, INHERITANCE, Polymorphism, Single Nucleotide, PRACTICAL consortium, 03 medical and health sciences, Genomic Imprinting, SDG 3 - Good Health and Well-being, Mendelian randomization, REGRESSION, medicine, Journal Article, Humans, cancer, Genetic Predisposition to Disease, 1000 Genomes Project, Membrane Proteins/genetics, METAANALYSIS, Puberty, Calcium-Binding Proteins, Membrane Proteins, Cancer, InterAct Consortium, Heritability, medicine.disease, BODY-MASS INDEX, 030104 developmental biology, genome-wide association studies, Puberty/genetics, LifeLines Cohort Study, Genome-Wide Association Study

وصف الملف: application/pdf; STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba4662b9373d751ace980e5bcc9dbbf2Test
https://www.bib.irb.hr/872815Test

المؤلفون: Ies J Nijman, Wigard P. Kloosterman, Mark van Roosmalen, Magdalena Harakalova, Rachel H. Giles, Carolien G.F. de Kovel, Gijs van Haaften, Karen Duran, Nine V A M Knoers, Hester Y. Kroes, Bert van der Zwaag, Glen R. Monroe

المصدر: EJHG, 24(2), 214-220. Nature Publishing Group
European Journal of Human Genetics

مصطلحات موضوعية: 0301 basic medicine, Male, Signal Transducing/genetics, TMEM67, Adaptor Proteins, Signal Transducing/genetics, Bioinformatics, Cerebellum, Pathology, Eye Abnormalities, Pathology, Molecular, Child, Genetics (clinical), Genetics, Sanger sequencing, education.field_of_study, Cystic/diagnosis, Adaptor Proteins, High-Throughput Nucleotide Sequencing, Eye Abnormalities/diagnosis, Kidney Diseases, Cystic, Child, Preschool, Proteins/genetics, symbols, Kidney Diseases, Cerebellum/abnormalities, Female, Abnormalities, medicine.medical_specialty, Abnormalities, Multiple/diagnosis, Adolescent, Genotype, Population, Genetic Counseling, Consanguinity, Biology, CC2D2A, Retina, Article, Joubert syndrome, 03 medical and health sciences, symbols.namesake, Young Adult, Molecular genetics, medicine, Humans, Abnormalities, Multiple, Membrane Proteins/genetics, Preschool, education, Kidney Diseases, Cystic/diagnosis, Adaptor Proteins, Signal Transducing, Multiple/diagnosis, Genetic heterogeneity, Retina/abnormalities, Molecular, Membrane Proteins, Proteins, Infant, medicine.disease, Adaptor Proteins, Vesicular Transport, Cytoskeletal Proteins, 030104 developmental biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efd11d8828c702d788ff0fb87ebf3437Test
https://research.rug.nl/en/publications/01daa816-81eb-4be5-a3b7-183021192272Test

المؤلفون: Hans H. Jung, Michael Sinnreich, Jens A. Petersen, Wolfram Kress, Thierry Kuntzer, Angela Huebner, Elisabeth J. Rushing, Maja von der Hagen, Johannes Alexander Lobrinus, Veronika Kana, Dirk Fischer

المساهمون: University of Zurich, Petersen, Jens A

المصدر: BMC Neurology, Vol. 15 (2015) P. 182
BMC neurology
BMC Neurology
Bmc Neurology, vol. 15, no. 1, pp. 182

مصطلحات موضوعية: Adult, Male, Heterozygote, Dysferlinopathy, Adolescent, Clinical Neurology, 10208 Institute of Neuropathology, Muscle Proteins, 610 Medicine & health, ddc:616.07, medicine.disease_cause, Dysferlin, Young Adult, medicine, Humans, Myopathy, ddc:611, Genetics, Mutation, biology, Genetic heterogeneity, business.industry, Homozygote, Haplotype, Membrane Proteins, General Medicine, Anatomy, Middle Aged, medicine.disease, Founder Effect, 10040 Clinic for Neurology, 3. Good health, 2728 Neurology (clinical), Phenotype, Muscular Dystrophies, Limb-Girdle, Female, Membrane Proteins/genetics, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/genetics, Switzerland, biology.protein, Neurology (clinical), medicine.symptom, business, Research Article, Limb-girdle muscular dystrophy, Founder effect

وصف الملف: s12883-015-0449-3.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b5d47ec334c3e9a41a950925d0c5859Test
https://doi.org/10.1186/s12883-015-0449-3Test

المؤلفون: Gunnar Houge, Axel von der Wense, Christian Becker, Pierre Bitoun, Francesca Pasutto, Gudrun Nürnberg, David Chitayat, John Tolmie, Peter Meinecke, David R. FitzPatrick, André Reis, Anne Slavotinek, Geert Mortier, Gerhard Hammersen, Sarah Keating, Raoul C.M. Hennekam, Heinrich Sticht, Peter Nürnberg, Heidemarie Schirmer-Zimmermann, Lorena Fernández-Martínez, Gabriele Gillessen-Kaesbach, Frank Brasch, Anita Rauch

المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatric Genetics

المصدر: American journal of human genetics, 80(3), 550-560. Cell Press
Pasutto, F, Sticht, H, Hammersen, G, Gillessen-Kaesbach, G, Fitzpatrick, D R, Nürnberg, G, Brasch, F, Schirmer-Zimmermann, H, Tolmie, J L, Chitayat, D, Houge, G, Fernández-Martínez, L, Keating, S, Mortier, G, Hennekam, R C M, von der Wense, A, Slavotinek, A, Meinecke, P, Bitoun, P, Becker, C, Nürnberg, P, Reis, A & Rauch, A 2007, ' Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation ', American Journal of Human Genetics, vol. 80, no. 3, pp. 550-60 . https://doi.org/10.1086/512203Test

مصطلحات موضوعية: Receptors, Cell Surface/genetics, Male, Alveolar capillary dysplasia, Hernia, Diaphragmatic/genetics, Vitamin A transport, Consanguinity, Abnormalities, Multiple/genetics, Missense mutation, Genetics(clinical), Diaphragmatic hernia, Phosphorylation, Lung/abnormalities, Lung, Genetics (clinical), Genetics, Pulmonary Alveoli/blood supply, Disease gene identification, Heart Defects, Congenital/genetics, Pedigree, Transmembrane domain, Female, Adult, Heart Defects, Congenital, Mutation/genetics, Adolescent, Lung/pathology, Molecular Sequence Data, Receptors, Cell Surface, Biology, Chromosome 15, Report, Intellectual Disability, medicine, Humans, Abnormalities, Multiple, Amino Acid Sequence, Membrane Proteins/genetics, Hernia, Diaphragmatic, Anophthalmia, Anophthalmos/genetics, Sequence Homology, Amino Acid, Infant, Newborn, Anophthalmos, Infant, Membrane Proteins, medicine.disease, Intellectual Disability/genetics, Capillaries, Pulmonary Alveoli, Mutation, Capillaries/abnormalities, Membrane Proteins/metabolism

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f10b189ca45bb1063918f5ed1932b6bfTest
https://doi.org/10.1086/512203Test

المؤلفون: Gallardo, Eduard, de Luna Salva, Noemí, Diaz-Manera, Jordi, Rojas-Garcia, Ricard, Gonzalez-Quereda, L., Flix, Bàrbara, de Morrée, Antoine, van der Maarel, Silvère, Illa, Isabel, Universitat Autònoma de Barcelona

المصدر: PLoS ONE
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
PLoS ONE, 6(12)
PLoS One
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
PLoS ONE, Vol 6, Iss 12, p e29061 (2011)
Gallardo, E, de Luna, N, Diaz-Manera, J, Rojas-García, R, Gonzalez-Quereda, L, Flix, B, de Morrée, A, van der Maarel, S & Illa, I 2011, ' Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy ', PLOS ONE, vol. 6, no. 12, pp. e29061 . https://doi.org/10.1371/journal.pone.0029061Test

مصطلحات موضوعية: Male, Pathology, Anatomy and Physiology, dysferlin myopathy, Biopsy, DNA Mutational Analysis, Lipopolysaccharide Receptors, Muscle Proteins, DYSF protein, human, Protein Synthesis, medicine.disease_cause, preschool child, Biochemistry, Muscular Dystrophies, Monocytes, Western blotting, Dysferlin, Monocytes/metabolism, membrane protein, genetics, gene mutation, Musculoskeletal System, comparative study, limb girdle muscular dystrophy, Muscle Proteins/genetics, Mutation, child, clinical article, Multidisciplinary, biology, medicine.diagnostic_test, adult, article, Neuromuscular Diseases, dysferlinopathy, aged, medicine.anatomical_structure, female, Neurology, immunohistochemistry, monocyte, Blood Chemistry, Lipopolysaccharide Receptors/metabolism, Immunohistochemistry, Muscle, Medicine, Female, dysferlin gene, medicine.symptom, muscle biopsy, myopathy, Research Article, mutational analysis, Adult, Dysferlinopathy, medicine.medical_specialty, Mutation/genetics, Science, Muscular Dystrophies, Limb-Girdle/diagnosis, muscle protein, Antigens, CD14, medicine, Humans, controlled study, human, Membrane Proteins/genetics, skeletal muscle, Myopathy, gene, Muscle, Skeletal, protein expression, Biology, Muscle, Skeletal/metabolism, Muscle biopsy, Plasma Proteins, human cell, solubility, Skeletal muscle, Proteins, Membrane Proteins, nucleotide sequence, CD14 antigen, medicine.disease, human tissue, dysferlin, Muscular Dystrophies, Limb-Girdle, Solubility, adolescent, biology.protein, gene expression, pathology, metabolism

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49021bb466532c6b22e57fd3201a9de0Test
http://europepmc.org/articles/PMC3241698Test