المؤلفون: Janina Trauth, Thomas Discher, Moritz Fritzenwanker, Can Imirzalioglu, Tobias Arnold, Dagmar Steiner, Elvira Richter, Laura Crisponi, Bodo Grimbacher, Susanne Herold

المصدر: Emerging Infectious Diseases, Vol 28, Iss 7, Pp 1506-1509 (2022)

مصطلحات موضوعية: Hodgkin lymphoma, Mycobacterium genavense, nontuberculous Mycobacterium, cervical lymphadenopathy, zoonoses, Germany, Medicine, Infectious and parasitic diseases, RC109-216

وصف الملف: electronic resource

Relation: https://wwwnc.cdc.gov/eid/article/28/7/22-0425_article; https://doaj.org/toc/1080-6040; https://doaj.org/toc/1080-6059

URL الوصول: https://doaj.org/article/ebc13186bee24eb6828874bde99c577f

المؤلفون: Mara Marongiu, Laura Crisponi, Manuela Uda, Emanuele Pelosi

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: female infertility, age-related decline in fertility, reproductive aging, hypothalamic-pituitary-ovarian axis, primary ovarian insufficiency (POI), ovarian biology, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.839758/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/25b8d4e0364e48f0bba09f6df16e987e

المؤلفون: Insa Buers, Lara Schöning, Niki Tomas Loges, Yvonne Nitschke, Inga Marlena Höben, Albrecht Röpke, Laura Crisponi, Heymut Omran, Frank Rutsch

المصدر: Stem Cell Research, Vol 46, Iss , Pp 101855- (2020)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506120301562; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/1f0bde6615a14ea19143637a736d22db

المؤلفون: Lara Schöning, Niki Tomas Loges, Yvonne Nitschke, Inga Marlena Höben, Albrecht Röpke, Laura Crisponi, Heymut Omran, Frank Rutsch, Insa Buers

المصدر: Stem Cell Research, Vol 46, Iss , Pp 101820- (2020)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506120301227; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/f106bf553f9549a3b4806dbee37c0634

المؤلفون: Rita Maria Alves, Paolo Uva, Marielza F. Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia P. Toralles, Andrea Angius, Laura Crisponi

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: Whole exome sequencing, KBG syndrome, ANKRD11 gene, Generalized epilepsy with febrile seizures (GEFS+), SCN9A gene, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-019-0745-7; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/22adc8b7ac914df3a0cf5814817a5e60

المؤلفون: Tommaso Pippucci, Antonia Parmeggiani, Flavia Palombo, Alessandra Maresca, Andrea Angius, Laura Crisponi, Francesco Cucca, Rocco Liguori, Maria Lucia Valentino, Marco Seri, Valerio Carelli

المصدر: PLoS ONE, Vol 8, Iss 12, p e82154 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24358150/pdf/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/aecdf351c8ad4206b5d7427262e5fb7b

المؤلفون: Silvia Naitza, Eleonora Porcu, Maristella Steri, Dennis D Taub, Antonella Mulas, Xiang Xiao, James Strait, Mariano Dei, Sandra Lai, Fabio Busonero, Andrea Maschio, Gianluca Usala, Magdalena Zoledziewska, Carlo Sidore, Ilenia Zara, Maristella Pitzalis, Alessia Loi, Francesca Virdis, Roberta Piras, Francesca Deidda, Michael B Whalen, Laura Crisponi, Antonio Concas, Carlo Podda, Sergio Uzzau, Paul Scheet, Dan L Longo, Edward Lakatta, Gonçalo R Abecasis, Antonio Cao, David Schlessinger, Manuela Uda, Serena Sanna, Francesco Cucca

المصدر: PLoS Genetics, Vol 8, Iss 1, p e1002480 (2012)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3266885?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/c4706c9af750415bb33bf522097b1205

المؤلفون: Nicholette D Palmer, Caitrin W McDonough, Pamela J Hicks, Bong H Roh, Maria R Wing, S Sandy An, Jessica M Hester, Jessica N Cooke, Meredith A Bostrom, Megan E Rudock, Matthew E Talbert, Joshua P Lewis, DIAGRAM Consortium, MAGIC Investigators, Assiamira Ferrara, Lingyi Lu, Julie T Ziegler, Michele M Sale, Jasmin Divers, Daniel Shriner, Adebowale Adeyemo, Charles N Rotimi, Maggie C Y Ng, Carl D Langefeld, Barry I Freedman, Donald W Bowden, Benjamin F Voight, Laura J Scott, Valgerdur Steinthorsdottir, Andrew P Morris, Christian Dina, Ryan P Welch, Eleftheria Zeggini, Cornelia Huth, Yurii S Aulchenko, Gudmar Thorleifsson, Laura J McCulloch, Teresa Ferreira, Harald Grallert, Najaf Amin, Guanming Wu, Cristen J Willer, Soumya Raychaudhuri, Steve A McCarroll, Claudia Langenberg, Oliver M Hofmann, Josée Dupuis, Lu Qi, Ayellet V Segrè, Mandy van Hoek, Pau Navarro, Kristin Ardlie, Beverley Balkau, Rafn Benediktsson, Amanda J Bennett, Roza Blagieva, Eric Boerwinkle, Lori L Bonnycastle, Kristina Bengtsson Boström, Bert Bravenboer, Suzannah Bumpstead, Noël P Burtt, Guillaume Charpentier, Peter S Chines, Marilyn Cornelis, David J Couper, Gabe Crawford, Alex S F Doney, Katherine S Elliott, Amanda L Elliott, Michael R Erdos, Caroline S Fox, Christopher S Franklin, Martha Ganser, Christian Gieger, Niels Grarup, Todd Green, Simon Griffin, Christopher J Groves, Candace Guiducci, Samy Hadjadj, Neelam Hassanali, Christian Herder, Bo Isomaa, Anne U Jackson, Paul R V Johnson, Torben Jørgensen, Wen H L Kao, Norman Klopp, Augustine Kong, Peter Kraft, Johanna Kuusisto, Torsten Lauritzen, Man Li, Aloysius Lieverse, Cecilia M Lindgren, Valeriya Lyssenko, Michel Marre, Thomas Meitinger, Kristian Midthjell, Mario A Morken, Narisu Narisu, Peter Nilsson, Katharine R Owen, Felicity Payne, John R B Perry, Ann-Kristin Petersen, Carl Platou, Christine Proença, Inga Prokopenko, Wolfgang Rathmann, N William Rayner, Neil R Robertson, Ghislain Rocheleau, Michael Roden, Michael J Sampson, Richa Saxena, Beverley M Shields, Peter Shrader, Gunnar Sigurdsson, Thomas Sparsø, Klaus Strassburger, Heather M Stringham, Qi Sun, Amy J Swift, Barbara Thorand, Jean Tichet, Tiinamaija Tuomi, Rob M van Dam, Timon W van Haeften, Thijs van Herpt, Jana V van Vliet-Ostaptchouk, G Bragi Walters, Michael N Weedon, Cisca Wijmenga, Jacqueline Witteman, Richard N Bergman, Stephane Cauchi, Francis S Collins, Anna L Gloyn, Ulf Gyllensten, Torben Hansen, Winston A Hide, Graham A Hitman, Albert Hofman, David J Hunter, Kristian Hveem, Markku Laakso, Karen L Mohlke, Andrew D Morris, Colin N A Palmer, Peter P Pramstaller, Igor Rudan, Eric Sijbrands, Lincoln D Stein, Jaakko Tuomilehto, Andre Uitterlinden, Mark Walker, Nicholas J Wareham, Richard M Watanabe, Goncalo R Abecasis, Bernhard O Boehm, Harry Campbell, Mark J Daly, Andrew T Hattersley, Frank B Hu, James B Meigs, James S Pankow, Oluf Pedersen, H-Erich Wichmann, Inês Barroso, Jose C Florez, Timothy M Frayling, Leif Groop, Rob Sladek, Unnur Thorsteinsdottir, James F Wilson, Thomas Illig, Philippe Froguel, Cornelia M van Duijn, Kari Stefansson, David Altshuler, Michael Boehnke, Mark I McCarthy, Nicole Soranzo, Eleanor Wheeler, Nicole L Glazer, Nabila Bouatia-Naji, Reedik Mägi, Joshua Randall, Toby Johnson, Paul Elliott, Denis Rybin, Peter Henneman, Abbas Dehghan, Jouke Jan Hottenga, Kijoung Song, Anuj Goel, Josephine M Egan, Taina Lajunen, Alex Doney, Stavroula Kanoni, Christine Cavalcanti-Proença, Meena Kumari, Nicholas J Timpson, Carina Zabena, Erik Ingelsson, Ping An, Jeffrey O'Connell, Jian'an Luan, Amanda Elliott, Steven A McCarroll, Rosa Maria Roccasecca, François Pattou, Praveen Sethupathy, Yavuz Ariyurek, Philip Barter, John P Beilby, Yoav Ben-Shlomo, Sven Bergmann, Murielle Bochud, Amélie Bonnefond, Knut Borch-Johnsen, Yvonne Böttcher, Eric Brunner, Suzannah J Bumpstead, Yii-Der Ida Chen, Peter Chines, Robert Clarke, Lachlan J M Coin, Matthew N Cooper, Laura Crisponi, Ian N M Day, Eco J C de Geus, Jerome Delplanque, Annette C Fedson, Antje Fischer-Rosinsky, Nita G Forouhi, Rune Frants, Maria Grazia Franzosi, Pilar Galan, Mark O Goodarzi, Jürgen Graessler, Scott Grundy, Rhian Gwilliam, Göran Hallmans, Naomi Hammond, Xijing Han, Anna-Liisa Hartikainen, Caroline Hayward, Simon C Heath, Serge Hercberg, Andrew A Hicks, David R Hillman, Aroon D Hingorani, Jennie Hui, Joe Hung, Antti Jula, Marika Kaakinen, Jaakko Kaprio, Y Antero Kesaniemi, Mika Kivimaki, Beatrice Knight, Seppo Koskinen, Peter Kovacs, Kirsten Ohm Kyvik, G Mark Lathrop, Debbie A Lawlor, Olivier Le Bacquer, Cécile Lecoeur, Yun Li, Robert Mahley, Massimo Mangino, Alisa K Manning, María Teresa Martínez-Larrad, Jarred B McAteer, Ruth McPherson, Christa Meisinger, David Melzer, David Meyre, Braxton D Mitchell, Sutapa Mukherjee, Silvia Naitza, Matthew J Neville, Ben A Oostra, Marco Orrù, Ruth Pakyz, Giuseppe Paolisso, Cristian Pattaro, Daniel Pearson, John F Peden, Nancy L Pedersen, Markus Perola, Andreas F H Pfeiffer, Irene Pichler, Ozren Polasek, Danielle Posthuma, Simon C Potter, Anneli Pouta, Michael A Province, Bruce M Psaty, Nigel W Rayner, Kenneth Rice, Samuli Ripatti, Fernando Rivadeneira, Olov Rolandsson, Annelli Sandbaek, Manjinder Sandhu, Serena Sanna, Avan Aihie Sayer, Paul Scheet, Udo Seedorf, Stephen J Sharp, Beverley Shields, Eric J G Sijbrands, Angela Silveira, Laila Simpson, Andrew Singleton, Nicholas L Smith, Ulla Sovio, Amy Swift, Holly Syddall, Ann-Christine Syvänen, Toshiko Tanaka, Anke Tönjes, André G Uitterlinden, Ko Willems van Dijk, Dhiraj Varma, Sophie Visvikis-Siest, Veronique Vitart, Nicole Vogelzangs, Gérard Waeber, Peter J Wagner, Andrew Walley, Kim L Ward, Hugh Watkins, Sarah H Wild, Gonneke Willemsen, Jaqueline C M Witteman, John W G Yarnell, Diana Zelenika, Björn Zethelius, Guangju Zhai, Jing Hua Zhao, M Carola Zillikens, Ingrid B Borecki, Ruth J F Loos, Pierre Meneton, Patrik K E Magnusson, David M Nathan, Gordon H Williams, Kaisa Silander, Veikko Salomaa, George Davey Smith, Stefan R Bornstein, Peter Schwarz, Joachim Spranger, Fredrik Karpe, Alan R Shuldiner, Cyrus Cooper, George V Dedoussis, Manuel Serrano-Ríos, Lars Lind, Lyle J Palmer, Paul W Franks, Shah Ebrahim, Michael Marmot, W H Linda Kao, Peter Paul Pramstaller, Alan F Wright, Michael Stumvoll, Anders Hamsten, Thomas A Buchanan, Timo T Valle, Jerome I Rotter, David S Siscovick, Brenda W J H Penninx, Dorret I Boomsma, Panos Deloukas, Timothy D Spector, Luigi Ferrucci, Antonio Cao, Angelo Scuteri, David Schlessinger, Manuela Uda, Aimo Ruokonen, Marjo-Riitta Jarvelin, Dawn M Waterworth, Peter Vollenweider, Leena Peltonen, Vincent Mooser, Robert Sladek

المصدر: PLoS ONE, Vol 7, Iss 1, p e29202 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3251563?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/73ab7f9637a040a28be2840650771705

المؤلفون: Zari Dastani, Marie-France Hivert, Nicholas Timpson, John R B Perry, Xin Yuan, Robert A Scott, Peter Henneman, Iris M Heid, Jorge R Kizer, Leo-Pekka Lyytikäinen, Christian Fuchsberger, Toshiko Tanaka, Andrew P Morris, Kerrin Small, Aaron Isaacs, Marian Beekman, Stefan Coassin, Kurt Lohman, Lu Qi, Stavroula Kanoni, James S Pankow, Hae-Won Uh, Ying Wu, Aurelian Bidulescu, Laura J Rasmussen-Torvik, Celia M T Greenwood, Martin Ladouceur, Jonna Grimsby, Alisa K Manning, Ching-Ti Liu, Jaspal Kooner, Vincent E Mooser, Peter Vollenweider, Karen A Kapur, John Chambers, Nicholas J Wareham, Claudia Langenberg, Rune Frants, Ko Willems-Vandijk, Ben A Oostra, Sara M Willems, Claudia Lamina, Thomas W Winkler, Bruce M Psaty, Russell P Tracy, Jennifer Brody, Ida Chen, Jorma Viikari, Mika Kähönen, Peter P Pramstaller, David M Evans, Beate St Pourcain, Naveed Sattar, Andrew R Wood, Stefania Bandinelli, Olga D Carlson, Josephine M Egan, Stefan Böhringer, Diana van Heemst, Lyudmyla Kedenko, Kati Kristiansson, Marja-Liisa Nuotio, Britt-Marie Loo, Tamara Harris, Melissa Garcia, Alka Kanaya, Margot Haun, Norman Klopp, H-Erich Wichmann, Panos Deloukas, Efi Katsareli, David J Couper, Bruce B Duncan, Margreet Kloppenburg, Linda S Adair, Judith B Borja, DIAGRAM+ Consortium, MAGIC Consortium, GLGC Investigators, MuTHER Consortium, James G Wilson, Solomon Musani, Xiuqing Guo, Toby Johnson, Robert Semple, Tanya M Teslovich, Matthew A Allison, Susan Redline, Sarah G Buxbaum, Karen L Mohlke, Ingrid Meulenbelt, Christie M Ballantyne, George V Dedoussis, Frank B Hu, Yongmei Liu, Bernhard Paulweber, Timothy D Spector, P Eline Slagboom, Luigi Ferrucci, Antti Jula, Markus Perola, Olli Raitakari, Jose C Florez, Veikko Salomaa, Johan G Eriksson, Timothy M Frayling, Andrew A Hicks, Terho Lehtimäki, George Davey Smith, David S Siscovick, Florian Kronenberg, Cornelia van Duijn, Ruth J F Loos, Dawn M Waterworth, James B Meigs, Josee Dupuis, J Brent Richards, Benjamin F Voight, Laura J Scott, Valgerdur Steinthorsdottir, Christian Dina, Ryan P Welch, Eleftheria Zeggini, Cornelia Huth, Yurii S Aulchenko, Gudmar Thorleifsson, Laura J McCulloch, Teresa Ferreira, Harald Grallert, Najaf Amin, Guanming Wu, Cristen J Willer, Soumya Raychaudhuri, Steve A McCarroll, Oliver M Hofmann, Ayellet V Segrè, Mandy van Hoek, Pau Navarro, Kristin Ardlie, Beverley Balkau, Rafn Benediktsson, Amanda J Bennett, Roza Blagieva, Eric Boerwinkle, Lori L Bonnycastle, Kristina Bengtsson Boström, Bert Bravenboer, Suzannah Bumpstead, Noël P Burtt, Guillaume Charpentier, Peter S Chines, Marilyn Cornelis, Gabe Crawford, Alex S F Doney, Katherine S Elliott, Amanda L Elliott, Michael R Erdos, Caroline S Fox, Christopher S Franklin, Martha Ganser, Christian Gieger, Niels Grarup, Todd Green, Simon Griffin, Christopher J Groves, Candace Guiducci, Samy Hadjadj, Neelam Hassanali, Christian Herder, Bo Isomaa, Anne U Jackson, Paul R V Johnson, Torben Jørgensen, Wen H L Kao, Augustine Kong, Peter Kraft, Johanna Kuusisto, Torsten Lauritzen, Man Li, Aloysius Lieverse, Cecilia M Lindgren, Valeriya Lyssenko, Michel Marre, Thomas Meitinger, Kristian Midthjell, Mario A Morken, Narisu Narisu, Peter Nilsson, Katharine R Owen, Felicity Payne, Ann-Kristin Petersen, Carl Platou, Christine Proença, Inga Prokopenko, Wolfgang Rathmann, N William Rayner, Neil R Robertson, Ghislain Rocheleau, Michael Roden, Michael J Sampson, Richa Saxena, Beverley M Shields, Peter Shrader, Gunnar Sigurdsson, Thomas Sparsø, Klaus Strassburger, Heather M Stringham, Qi Sun, Amy J Swift, Barbara Thorand, Jean Tichet, Tiinamaija Tuomi, Rob M van Dam, Timon W van Haeften, Thijs van Herpt, Jana V van Vliet-Ostaptchouk, G Bragi Walters, Michael N Weedon, Cisca Wijmenga, Jacqueline Witteman, Richard N Bergman, Stephane Cauchi, Francis S Collins, Anna L Gloyn, Ulf Gyllensten, Torben Hansen, Winston A Hide, Graham A Hitman, Albert Hofman, David J Hunter, Kristian Hveem, Markku Laakso, Andrew D Morris, Colin N A Palmer, Igor Rudan, Eric Sijbrands, Lincoln D Stein, Jaakko Tuomilehto, Andre Uitterlinden, Mark Walker, Richard M Watanabe, Goncalo R Abecasis, Bernhard O Boehm, Harry Campbell, Mark J Daly, Andrew T Hattersley, Oluf Pedersen, Inês Barroso, Leif Groop, Rob Sladek, Unnur Thorsteinsdottir, James F Wilson, Thomas Illig, Philippe Froguel, Cornelia M van Duijn, Kari Stefansson, David Altshuler, Michael Boehnke, Mark I McCarthy, Nicole Soranzo, Eleanor Wheeler, Nicole L Glazer, Nabila Bouatia-Naji, Reedik Mägi, Joshua Randall, Paul Elliott, Denis Rybin, Abbas Dehghan, Jouke Jan Hottenga, Kijoung Song, Anuj Goel, Taina Lajunen, Alex Doney, Christine Cavalcanti-Proença, Meena Kumari, Nicholas J Timpson, Carina Zabena, Erik Ingelsson, Ping An, Jeffrey O'Connell, Jian'an Luan, Amanda Elliott, Steven A McCarroll, Rosa Maria Roccasecca, François Pattou, Praveen Sethupathy, Yavuz Ariyurek, Philip Barter, John P Beilby, Yoav Ben-Shlomo, Sven Bergmann, Murielle Bochud, Amélie Bonnefond, Knut Borch-Johnsen, Yvonne Böttcher, Eric Brunner, Suzannah J Bumpstead, Yii-Der Ida Chen, Peter Chines, Robert Clarke, Lachlan J M Coin, Matthew N Cooper, Laura Crisponi, Ian N M Day, Eco J C de Geus, Jerome Delplanque, Annette C Fedson, Antje Fischer-Rosinsky, Nita G Forouhi, Maria Grazia Franzosi, Pilar Galan, Mark O Goodarzi, Jürgen Graessler, Scott Grundy, Rhian Gwilliam, Göran Hallmans, Naomi Hammond, Xijing Han, Anna-Liisa Hartikainen, Caroline Hayward, Simon C Heath, Serge Hercberg, David R Hillman, Aroon D Hingorani, Jennie Hui, Joe Hung, Marika Kaakinen, Jaakko Kaprio, Y Antero Kesaniemi, Mika Kivimaki, Beatrice Knight, Seppo Koskinen, Peter Kovacs, Kirsten Ohm Kyvik, G Mark Lathrop, Debbie A Lawlor, Olivier Le Bacquer, Cécile Lecoeur, Yun Li, Robert Mahley, Massimo Mangino, María Teresa Martínez-Larrad, Jarred B McAteer, Ruth McPherson, Christa Meisinger, David Melzer, David Meyre, Braxton D Mitchell, Sutapa Mukherjee, Silvia Naitza, Matthew J Neville, Marco Orrù, Ruth Pakyz, Giuseppe Paolisso, Cristian Pattaro, Daniel Pearson, John F Peden, Nancy L Pedersen, Andreas F H Pfeiffer, Irene Pichler, Ozren Polasek, Danielle Posthuma, Simon C Potter, Anneli Pouta, Michael A Province, Nigel W Rayner, Kenneth Rice, Samuli Ripatti, Fernando Rivadeneira, Olov Rolandsson, Annelli Sandbaek, Manjinder Sandhu, Serena Sanna, Avan Aihie Sayer, Paul Scheet, Udo Seedorf, Stephen J Sharp, Beverley Shields, Gunnar Sigurðsson, Eric J G Sijbrands, Angela Silveira, Laila Simpson, Andrew Singleton, Nicholas L Smith, Ulla Sovio, Amy Swift, Holly Syddall, Ann-Christine Syvänen, Anke Tönjes, André G Uitterlinden, Ko Willems van Dijk, Dhiraj Varma, Sophie Visvikis-Siest, Veronique Vitart, Nicole Vogelzangs, Gérard Waeber, Peter J Wagner, Andrew Walley, Kim L Ward, Hugh Watkins, Sarah H Wild, Gonneke Willemsen, Jaqueline C M Witteman, John W G Yarnell, Diana Zelenika, Björn Zethelius, Guangju Zhai, Jing Hua Zhao, M Carola Zillikens, DIAGRAM Consortium, GIANT Consortium, Global B Pgen Consortium, Ingrid B Borecki, Pierre Meneton, Patrik K E Magnusson, David M Nathan, Gordon H Williams, Kaisa Silander, Stefan R Bornstein, Peter Schwarz, Joachim Spranger, Fredrik Karpe, Alan R Shuldiner, Cyrus Cooper, Manuel Serrano-Ríos, Lars Lind, Lyle J Palmer, Paul W Franks, Shah Ebrahim, Michael Marmot, W H Linda Kao, Peter Paul Pramstaller, Alan F Wright, Michael Stumvoll, Anders Hamsten, Procardis Consortium, Thomas A Buchanan, Timo T Valle, Jerome I Rotter, Brenda W J H Penninx, Dorret I Boomsma, Antonio Cao, Angelo Scuteri, David Schlessinger, Manuela Uda, Aimo Ruokonen, Marjo-Riitta Jarvelin, Leena Peltonen, Vincent Mooser, Robert Sladek, MAGIC investigators, GLGC Consortium, Kiran Musunuru, Albert V Smith, Andrew C Edmondson, Ioannis M Stylianou, Masahiro Koseki, James P Pirruccello, Daniel I Chasman, Christopher T Johansen, Sigrid W Fouchier, Gina M Peloso, Maja Barbalic, Sally L Ricketts, Joshua C Bis, Mary F Feitosa, Marju Orho-Melander, Olle Melander, Xiaohui Li, Mingyao Li, Yoon Shin Cho, Min Jin Go, Young Jin Kim, Jong-Young Lee, Taesung Park, Kyunga Kim, Xueling Sim, Rick Twee-Hee Ong, Damien C Croteau-Chonka, Leslie A Lange, Joshua D Smith, Andreas Ziegler, Weihua Zhang, Robert Y L Zee, John B Whitfield, John R Thompson, Ida Surakka, Tim D Spector, Johannes H Smit, Juha Sinisalo, James Scott, Juha Saharinen, Chiara Sabatti, Lynda M Rose, Robert Roberts, Mark Rieder, Alex N Parker, Guillaume Pare, Christopher J O'Donnell, Markku S Nieminen, Deborah A Nickerson, Grant W Montgomery, Wendy McArdle, David Masson, Nicholas G Martin, Fabio Marroni, Gavin Lucas, Robert Luben, Marja-Liisa Lokki, Guillaume Lettre, Lenore J Launer, Edward G Lakatta, Reijo Laaksonen, Kirsten O Kyvik, Inke R König, Kay-Tee Khaw, Lee M Kaplan, Åsa Johansson, A Cecile J W Janssens, Wilmar Igl, G Kees Hovingh, Christian Hengstenberg, Aki S Havulinna, Nicholas D Hastie, Tamara B Harris, Talin Haritunians, Alistair S Hall, Leif C Groop, Elena Gonzalez, Nelson B Freimer, Jeanette Erdmann, Kenechi G Ejebe, Angela Döring, Anna F Dominiczak, Serkalem Demissie, Panagiotis Deloukas, Ulf de Faire, Gabriel Crawford, Yii-der I Chen, Mark J Caulfield, S Matthijs Boekholdt, Themistocles L Assimes, Thomas Quertermous, Mark Seielstad, Tien Y Wong, E-Shyong Tai, Alan B Feranil, Christopher W Kuzawa, Herman A Taylor, Stacey B Gabriel, Hilma Holm, Vilmundur Gudnason, Ronald M Krauss, Jose M Ordovas, Patricia B Munroe, Jaspal S Kooner, Alan R Tall, Robert A Hegele, John J P Kastelein, Eric E Schadt, David P Strachan, Muredach P Reilly, Nilesh J Samani, Heribert Schunkert, L Adrienne Cupples, Manjinder S Sandhu, Paul M Ridker, Daniel J Rader, Sekar Kathiresan

المصدر: PLoS Genetics, Vol 8, Iss 3, p e1002607 (2012)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22479202/?tool=EBI; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/d72a07536f4c468e8ab94500a1e663a5

المؤلفون: Adrien Georges, Bérénice A Benayoun, Mara Marongiu, Aurélie Dipietromaria, David L'Hôte, Anne-Laure Todeschini, Jana Auer, Laura Crisponi, Reiner A Veitia

المصدر: PLoS ONE, Vol 6, Iss 10, p e25463 (2011)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3192040?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/1b3eb1220c2e47c3aba4b5db7819ae43

المؤلفون: Mara Marongiu, Manila Deiana, Alessandra Meloni, Loredana Marcia, Alessandro Puddu, Antonio Cao, David Schlessinger, Laura Crisponi

المصدر: PLoS ONE, Vol 5, Iss 3, p e9477 (2010)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2830456?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/22fe7f94ce1e4c5a803578b0c2273ccf

المؤلفون: Siguang Li, Serena Sanna, Andrea Maschio, Fabio Busonero, Gianluca Usala, Antonella Mulas, Sandra Lai, Mariano Dei, Marco Orrù, Giuseppe Albai, Stefania Bandinelli, David Schlessinger, Edward Lakatta, Angelo Scuteri, Samer S Najjar, Jack Guralnik, Silvia Naitza, Laura Crisponi, Antonio Cao, Gonçalo Abecasis, Luigi Ferrucci, Manuela Uda, Wei-Min Chen, Ramaiah Nagaraja

المصدر: PLoS Genetics, Vol 3, Iss 11, p e194 (2007)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2065883?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/c60593e7ab224e6dadf50b9e691ab045

المؤلفون: Laura Crisponi, Insa Buers, Frank Rutsch

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 2; Pages: 992

مصطلحات موضوعية: CRLF1, CLCF1, type I cytokine receptor, development, Crisponi/cold-induced sweating syndrome

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms23020992

الاتاحة: https://doi.org/10.3390/ijms23020992

المؤلفون: Haghshenas, Sadegheh, Bout, Hidde J, Schijns, Josephine M, Levy, Michael A, Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A, Williams, Ella M, Halliday, Benjamin J, Huisman, Sylvia A, Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F, Galazzi, Elena, van Gils, Julien, Hurst, Anna C E, Kaiser, Frank J, Lacombe, Didier, Martinez-Monseny, Antonio F, Fergelot, Patricia, Monteiro, Fabíola P, Parenti, Ilaria, Persani, Luca, Santos-Simarro, Fernando, Simpson, Brittany N, Alders, Mariëlle, Robertson, Stephen P, Sadikovic, Bekim, Menke, Leonie A The members of the MKHK Research Consortium are An- drea Angius, Janice A. Baker, Emma Bedoukian, Vikas Bhambhani, Olaf Bodamer, Alan O’Brien, Jill Clayton- Smith, Laura Crisponi, Anna Mar ́ıa Cueto Gonza ́lez, the DDD study, Koenraad Devriendt, Elena Dominguez Gar- rido, Nadja Ehmke, Albertien van Eerde, Annette P. M. van den Elzen, Laurence Faivre, Laura Fisher, Josue A. Flores- Daboub, Alison Foster, Jennifer Friedman, Elisabeth Gabau, Elena Galazzi, Sixto Garc ́ıa-Min ̃au ́r, Livia Garavelli, That- jana Gardeitchik, Erica H. Gerkes, Julien van Gils, Jacques C. Giltay, Aixa Gonzalez Garcia, Ketil Riddervold Heimdal, Denise Horn, Gunnar Houge, Sophia B. Hufnagel, Denisa Ilencikova, Sophie Julia, Sarina G. Kant, Esther Kinning, Eric W. Klee, Chelsea Kois, Maja Kovacevi, c, A. M. A. (Guus) Lachmeijer, Brendan Lanpher, Marine Lebrun, Eyby Leon, Angie Ward Lichty, Ruth Lin, Isabel Llano-Rivas, Sally Ann Lynch, Saskia M. Maas, Silvia B. Maitz, Shane McKee, Daniela Melis, Elisabetta Merati, Giuseppe Merla, Ruth Newbury-Ecob, Mathilde Nizon, Soo-Mi Park, Jennifer Pat- terson, Florence Petit, Hilde Peeters, Luca Persani, Ivana Per- sico, Valentina Pes, Marzia Pollazzon, Thomas Potjer, Lor- raine Potocki, Carrie Pottinger, Chitra Prasad, Eloise J. Prijoles, Nicola K. Ragge, Jan Peter Rake, Conny M. A. van Ravenswaaij-Arts, Gillian Rea, Claudia Ruivenkamp, Au- drey Rutz, Sulagna C Saitta, Rossana Sanchez Russo, Gijs W. E. Santen, Elise Schaefer, Vandana Shashi, Laura Schultz-Rogers, Andrea Sluga, Stefano Sotgiu, Elisabeth Steichen-Gersdorf, Jennifer A. Sullivan, Yu Sun, Mohnish Suri, Marco Tartaglia, Matt Tedder, Paulien Terhal, Ian Tully, Nienke Verbeek, Maren Wenzel, Susan M. White, Bing Xiao.

المساهمون: Sadegheh, Haghshena, Hidde J, Bout, Josephine M, Schijn, Michael A, Levy, Jennifer, Kerkhof, Pratibha, Bhai, Haley, Mcconkey, Zandra A, Jenkin, Ella M, William, Benjamin J, Halliday, Sylvia A, Huisman, Peter, Lauffer, Vivian, de Waard, Laura, Witteveen, Siddharth, Banka, Angela F, Brady, Elena, Galazzi, Julien, van Gil, Anna C E, Hurst, Frank J, Kaiser, Didier, Lacombe, Antonio F, Martinez-Monseny, Patricia, Fergelot, Fabíola P, Monteiro, Ilaria, Parenti, Luca, Persani, Fernando, Santos-Simarro, Brittany N, Simpson, Mariëlle, Alder, Stephen P, Robertson, Bekim, Sadikovic, Menke, A The members of the MKHK Research Consortium are An- drea Angius, Leonie, Baker, Janice A., Bedoukian, Emma, Bhambhani, Vika, Bodamer, Olaf, O’Brien, Alan, Clayton- Smith, Jill, Crisponi, Laura, Mar ́ıa Cueto Gonza ́lez, Anna, DDD study, The, Devriendt, Koenraad, Dominguez Gar- rido, Elena, Ehmke, Nadja, van Eerde, Albertien, van den Elzen, Annette P. M., Faivre, Laurence, Fisher, Laura, Flores- Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, Garc ́ıa-Min ̃au ́r, Sixto, Garavelli, Livia, jana Gardeitchik, That-, Gerkes, Erica H., van Gils, Julien, Giltay, Jacques C., Gonzalez Garcia, Aixa, Riddervold Heimdal, Ketil, Horn, Denise, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Kinning, Esther, Klee, Eric W., Kois, Chelsea, Kovacevi, Maja, C, (Guus) Lachmeijer, A. M. A., Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Ward Lichty, Angie, Lin, Ruth, Llano-Rivas, Isabel, Ann Lynch, Sally, Maas, Saskia M., Maitz, Silvia B., Mckee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Nizon, Mathilde, Park, Soo-Mi, Pat- terson, Jennifer, Petit, Florence, Peeters, Hilde, Persani, Luca, Per- sico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thoma, raine Potocki, Lor-

مصطلحات موضوعية: CREB-binding protein, DNA methylation, E1A-associated protein p300, MKHK, Menke-Hennekam syndrome, Rubinstein-Taybi syndrome, episignature, intellectual disability, intrinsically disordered linker, zinc-finger domain

Relation: info:eu-repo/semantics/altIdentifier/pmid/38553851; info:eu-repo/semantics/altIdentifier/wos/WOS:001233488300001; volume:5; firstpage:1; lastpage:19; numberofpages:19; journal:HGG ADVANCES; https://hdl.handle.net/11386/4895476

الاتاحة: https://hdl.handle.net/11386/4895476
https://doi.org/10.1016/j.xhgg.2024.100287

المؤلفون: Xiao Peng, Andres Caballero G. de Oteyza, Michele Proietti, Laura Crisponi

المصدر: Clinical Immunology. 250:109508

مصطلحات موضوعية: Immunology, Immunology and Allergy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::30d6f3c196a7892616f664e87db27010
https://doi.org/10.1016/j.clim.2023.109508

المؤلفون: Mara Marongiu, Laura Crisponi, Manuela Uda, Emanuele Pelosi

المصدر: Frontiers in genetics. 13

مصطلحات موضوعية: Genetics, Molecular Medicine, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f07822987ccc9a2115dca633f252c57f
https://pubmed.ncbi.nlm.nih.gov/35368681

المؤلفون: Gudrun Aubertin, Frank Rutsch, Gianmauro Cuccuru, Laura Crisponi, Insa Buers, Manuela Oppo, Paolo Uva, Eva-Lena Stattin, Andrew E. Fry, Ivana Persico, Gurdip Hulait, Andrea Angius, María Palomares-Bralo, Fernando Santos-Simarro, Göran Annerén, Margot I. Van Allen, Francesco Muntoni, Giangiorgio Crisponi, Stefano Onano, Francesco Cucca

المصدر: Clinical Genetics. 95:607-614

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Scoliosis, 030105 genetics & heredity, Bioinformatics, Genetic analysis, Death, Sudden, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, Humans, Hyperhidrosis, Genetics (clinical), Exome sequencing, Genetic heterogeneity, business.industry, Facies, Infant, medicine.disease, Phenotype, Hypotonia, Pedigree, 030104 developmental biology, Medical genetics, Female, Trismus, CLCF1, medicine.symptom, business, Hand Deformities, Congenital

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::070c99ea26ca0c56947b368bd431615e
https://doi.org/10.1111/cge.13532

المؤلفون: Unnur Styrkarsdottir, Lynda M. Rose, Rehannah Borup, Anne B. Newman, Georgia Chenevix-Trench, Chikashi Terao, Jeremy A. Daniel, Christa Meisinger, Albert V. Smith, Emil Peter Thrane Hertz, Raymond Noordam, Wei He, Jennifer A. Smith, Mikael Eriksson, Konstantin Strauch, Daniel I. Chasman, Nicholas J. Timpson, Melissa A. Troester, Claudia Langenberg, Montserrat Garcia-Closas, Mohammad Arfan Ikram, Sara Lindström, Gad Rennert, Pascal Guénel, Kristina W. Olsen, Pierre Fontanillas, Ozren Polasek, Daniel F. Gudbjartsson, Frank B. Hu, Archie Campbell, Celine M. Vachon, Sheila Ulivi, Robin N Beaumont, Robert Karlsson, Lenore J. Launer, Renée de Mutsert, Annette Peters, David Schlessinger, Stefania Bandinelli, Rico Rueedi, Joop S.E. Laven, Pascal Timshel, Joanne M. Murabito, Kuang Lin, Jazib Hussain, Dennis O. Mook-Kanamori, Manjeet K. Bolla, Catherine E. Aiken, Javier Martin Gonzalez, Simon S. Cross, Immaculata De Vivo, Paul M. Ridker, Christopher A. Haiman, Gerardo Heiss, Jessica Tyrrell, Paul R. H. J. Timmers, Hironori Abe, Mike A. Nalls, Luigi Ferrucci, Natalia Perjakova, Jouke J. Hottenga, Robin G. Walters, Reedik Mägi, Niclas Håkansson, Miriam Dwek, Barbara McKnight, Sandra Turon, Stasa Stankovic, Linda Broer, Stephen J. Chanock, Martina La Bianca, Jenny Chang-Claude, Loic Le Marchand, Hamdi Mbarek, Doris Stöckl, Andrew F. Olshan, Graham G. Giles, James F. Wilson, Micaella Joaquim, Amruta Shrikhande, Eva Hoffmann, Stefania Benonisdottir, Ana Martínez-Marchal, Anthony J. Swerdlow, David Karasik, Nicholas J. Wareham, Peter A. Fasching, Jane L. Tarry-Adkins, Charles Kooperberg, Peter Vollenweider, Douglas F. Easton, Paula Aguilera, Jessica D. Faul, Patrik K. E. Magnusson, Emmanouil Saloustros, Alpa V. Patel, Ellen W. Demerath, Qin Wang, Aditya Sankar, Christopher G. Scott, Iffat Rahman, Sharon L.R. Kardia, Peter K. Joshi, Caterina Barbieri, Claus Yding Andersen, Tõnu Esko, Massimo Mezzavilla, Nicholas G. Martin, Rebecca D. Jackson, Alison D. Murray, Marina Ciullo, Nicholas Bowker, Anna Murray, Patrick Deelen, Zoltán Kutalik, Alicja Wolk, Manuela Gago-Dominguez, Eleonora Porcu, Laura Crisponi, Michela Traglia, Katharina E. Schraut, Antonietta Robino, Chunyan He, Bruce H. R. Wolffenbuttel, Henry Völzke, Daniela Ruggiero, John R. B. Perry, Lude Franke, Igor Rudan, Angela Cox, Unnur Þorsteinsdottir, Christian Gieger, David R. Weir, Jodie N. Painter, Martha S. Linet, Massimo Mangino, Melissa C. Southey, Petr Solc, Tim D. Spector, Christiana Kartsonaki, Momoko Horikoshi, Meir J. Stampfer, Eulalia Catamo, Mònica Ferrer-Roda, Ko Willems van Dijk, Daniela Toniolo, Caroline Hayward, Lili Milani, Chloé Sarnowski, Jian'an Luan, Behrooz Z. Alizadeh, Jenny A. Visser, Stig E. Bojesen, Genevieve Lachance, Ulrike Peters, Antonella Mulas, John J. Spinelli, Elnaz Naderi, Andrew R. Wood, Paul D.P. Pharoah, Elinor J. Sawyer, Annique Claringbould, Saleh Shekari, David G. Hunter, Marie Louise Grøndahl, Vilmundur Gudnason, Nora Franceschini, Dale P. Sandler, Dale R. Nyholt, Jacques E. Rossouw, Amber N. Wilcox, Thomas U. Ahearn, Hedy S. Rennert, Olivier B. Bakker, Jingmei Li, Francesco Cucca, Eric Boerwinkle, Matthias W. Beckmann, Cristina Menni, Minouk J. Schoemaker, Esther M. John, Tune H. Pers, Andrés J. López-Contreras, Tanguy Corre, Jonathan Marten, Alice M. Arnold, N. Charlotte Onland-Moret, Lucie Knoblochova, Anna Pujol, Kathryn L. Lunetta, Marjanka K. Schmidt, Teresa Nutile, Serena Sanna, Gonneke Willemsen, Roger L. Milne, Kristan J. Aronson, Frits R. Rosendaal, Murielle Bochud, Ken K. Ong, Susan M. Ring, Nancy L. Pedersen, Blair H. Smith, Ivana Kolcic, Annelie Augustinsson, Jose E. Castelao, Alexander Teumer, Felix R. Day, Sven Bergmann, Timothy M. Frayling, Lauren R. Teras, George Davey Smith, Thomas Meitinger, Alison M. Dunning, Ignasi Roig, Dorret I. Boomsma, Harald Grallert, Toshiko Tanaka, Katherine S. Ruth, Julie E. Buring, Marek Zygmunt, Uwe Völker, Irene L. Andrulis, Håkan Olsson, Harry Campbell, Cari M. Kitahara, Annika Lindblom, Yvonne T. van der Schouw, Cinzia Sala, Debbie A Lawlor, Joe Dennis, Yongmei Liu, Yan Huang, Stephen Burgess, Brumat Marco, Veronique Vitart, Kari Stefansson, Susan E. Ozanne, Kamila Czene, Simin Liu, John L. Hopper, Joyce B. J. van Meurs, Satoshi H. Namekawa, Miya Kudo Høffding, Fergus J. Couch, Ajuna Azad, Eco J. C. de Geus, Liming Li, Grant W. Montgomery, Peter Kraft, André G. Uitterlinden, Arto Mannermaa, Heiko Becher, Allison W. Kurian, Vallari Shukla, Zhengming Chen, Per Hall, Jennifer A. Brody, Rossella Sorice, Wei Zhao, Andres Metspalu, Sarah E. Medland, Tricia Lindstrom, Clarice R. Weinberg, Bruce M. Psaty, Thérèse Truong, Anna Marie Mulligan, Deborah J. Thompson, Patrick Sulem

المساهمون: Internal Medicine, Epidemiology, Obstetrics & Gynecology, Hoffmann, Eva R [0000-0002-2588-0652], Murray, Anna [0000-0002-2351-2522], Roig, Ignasi [0000-0003-0313-3581], Perry, John RB [0000-0001-6483-3771], Apollo - University of Cambridge Repository, Life Course Epidemiology (LCE), Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Center for Liver, Digestive and Metabolic Diseases (CLDM), Stem Cell Aging Leukemia and Lymphoma (SALL), Biological Psychology, APH - Mental Health, APH - Methodology, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases

المصدر: University of Bristol-PURE
Nature, 596(7872), 393-397. NATURE PORTFOLIO
Nature 596, 393-397 (2021)
Nature, 596(7872), 393-397. Nature Publishing Group
Nature (Lond.) 596 (2021): 393–397. doi:10.1038/s41586-021-03779-7
info:cnr-pdr/source/autori:Ruth K.S.; Day F.R.; Hussain J.; Martinez-Marchal A.; Aiken C.E.; Azad A.; Thompson D.J.; Knoblochova L.; Abe H.; Tarry-Adkins J.L.; Gonzalez J.M.; Fontanillas P.; Claringbould A.; Bakker O.B.; Sulem P.; Walters R.G.; Terao C.; Turon S.; Horikoshi M.; Lin K.; Onland-Moret N.C.; Sankar A.; Hertz E.P.T.; Timshel P.N.; Shukla V.; Borup R.; Olsen K.W.; Aguilera P.; Ferrer-Roda M.; Huang Y.; Stankovic S.; Timmers P.R.H.J.; Ahearn T.U.; Alizadeh B.Z.; Naderi E.; Andrulis I.L.; Arnold A.M.; Aronson K.J.; Augustinsson A.; Bandinelli S.; Barbieri C.M.; Beaumont R.N.; Becher H.; Beckmann M.W.; Benonisdottir S.; Bergmann S.; Bochud M.; Boerwinkle E.; Bojesen S.E.; Bolla M.K.; Boomsma D.I.; Bowker N.; Brody J.A.; Broer L.; Buring J.E.; Campbell A.; Campbell H.; Castelao J.E.; Catamo E.; Chanock S.J.; Chenevix-Trench G.; Ciullo M.; Corre T.; Couch F.J.; Cox A.; Crisponi L.; Cross S.S.; Cucca F.; Czene K.; Smith G.D.; de Geus E.J.C.N.; de Mutsert R.; De Vivo I.; Demerath E.W.; Dennis J.; Dunning A.M.; Dwek M.; Eriksson M.; Esko T.; Fasching P.A.; Faul J.D.; Ferrucci L.; Franceschini N.; Frayling T.M.; Gago-Dominguez M.; Mezzavilla M.; Garcia-Closas M.; Gieger C.; Giles G.G.; Grallert H.; Gudbjartsson D.F.; Gudnason V.; Guenel P.; Haiman C.A.; Hakansson N.; Hall P.; Hayward C.; He C.; He W.; Heiss G.; Hoffding M.K.; Hopper J.L.; Hottenga J.J.; Hu F.; Hunter D.; Ikram M.A.; Jackson R.D.; Joaquim M.D.R.; John E.M.; Joshi P.K.; Karasik D.; Kardia S.L.R.; Kartsonaki C.; Karlsson R.; Kitahara C.M.; Kolcic I.; Kooperberg C.; Kraft P.; Kurian A.W.; Kutalik Z.; La Bianca M.; LaChance G.; Langenberg C.; Launer L.J.; Laven J.S.E.; Lawlor D.A.; Le Marchand L.; Li J.; Lindblom A.; Lindstrom S.; Lindstrom T.; Linet M.; Liu Y.M.; Liu S.; Luan J.; Magi R.; Magnusson P.K.E.; Mangino M.; Mannermaa A.; Marco B.; Marten J.; Martin N.G.; Mbarek H.; McKnight B.; Medland S.E.; Meisinger C.; Meitinger T.; Menni C.; Metspalu A.; Milani L.; Milne R.L.; Montgomery G.W.; Mook-Kanamori D.O.; Mulas A.; Mulligan A.M.; Murray A.; Nalls M.A.; Newman A.; Noordam R.; Nutile T.; Nyholt D.R.; Olshan A.F.; Olsson H.; Painter J.N.; Patel A.V.; Pedersen N.L.; Perjakova N.; Peters A.; Peters U.; Pharoah P.D.P.; Polasek O.; Porcu E.; Psaty B.M.; Rahman I.; Rennert G.; Rennert H.S.; Ridker P.M.; Ring S.M.; Robino A.; Rose L.M.; Rosendaal F.R.; Rossouw J.; Rudan I.; Rueedi R.; Ruggiero D.; Sala C.F.; Saloustros E.; Sandler D.P.; Sanna S.; Sawyer E.J.; Sarnowski C.; Schlessinger D.; Schmidt M.K.; Schoemaker M.J.; Schraut K.E.; Scott C.; Shekari S.; Shrikhande A.; Smith A.V.; Smith B.H.; Smith J.A.; Sorice R.; Southey M.C.; Spector T.D.; Spinelli J.J.; Stampfer M.; Stockl D.; van Meurs J.B.J.; Strauch K.; Styrkarsdottir U.; Swerdlow A.J.; Tanaka T.; Teras L.R.; Teumer A.; Thorsteinsdottir U.; Timpson N.J.; Toniolo D.; Traglia M.; Troester M.A.; Truong T.; Tyrrell J.; Uitterlinden A.G.; Ulivi S.; Vachon C.M.; Vitart V.; Volker U.; Vollenweider P.; Volzke H.; Wang Q.; Wareham N.J.; Weinberg C.R.; Weir D.R.; Wilcox A.N.; van Dijk K.W.; Willemsen G.; Wilson J.F.; Wolffenbuttel B.H.R.; Wolk A.; Wood A.R.; Zhao W.; Zygmunt M.; Chen Z.; Li L.; Franke L.; Burgess S.; Deelen P.; Pers T.H.; Grondahl M.L.; Andersen C.Y.; Pujol A.; Lopez-Contreras A.J.; Daniel J.A.; Stefansson K.; Chang-Claude J.; van der Schouw Y.T.; Lunetta K.L.; Chasman D.I.; Easton D.F.; Visser J.A.; Ozanne S.E.; Namekawa S.H.; Solc P.; Murabito J.M.; Ong K.K.; Hoffmann E.R.; Murray A.; Roig I.; Perry J.R.B./titolo:Genetic insights into biological mechanisms governing human ovarian ageing/doi:10.1038%2Fs41586-021-03779-7/rivista:Nature (Lond.)/anno:2021/pagina_da:393/pagina_a:397/intervallo_pagine:393–397/volume:596
Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature
Ruth, K S, Day, F R, Hussain, J, Martinez-Marchal, A, Aiken, C E, Azad, A, Thompson, D J, Knoblochova, L, Abe, H, Tarry-Adkins, J L, Gonzalez, J M, Fontanillas, P, Claringbould, A, Bakker, O B, Sulem, P, Walters, R G, Terao, C, Turon, S, Horikoshi, M, Lin, K, Onland-Moret, N C, Sankar, A, Hertz, E P T, Timshel, P N, Shukla, V, Borup, R, Olsen, K W, Aguilera, P, Ferrer-Roda, M, Huang, Y, Stankovic, S, Timmers, P R H J, Ahearn, T U, Alizadeh, B Z, Naderi, E, Andrulis, I L, Arnold, A M, Aronson, K J, Augustinsson, A, Bojesen, S E, Hoffding, M K, Shrikhande, A, Pers, T H, Grøndahl, M L, Andersen, C Y, Lopez-Contreras, A J, Daniel, J A, Hoffmann, E R, Biobank-based Integrative Omics St, eQTLGen Consortium, BioBank Japan Project, China Kadoorie Biobank Collaborati, kConFab Investigators, LifeLines Cohort Study, InterAct Consortium & 23 Me Res Team 2021, ' Genetic insights into biological mechanisms governing human ovarian ageing ', Nature, vol. 596, pp. 393-397 . https://doi.org/10.1038/s41586-021-03779-7
Ruth, K S, Davey Smith, G, Lawlor, D A, Ring, S M, Timpson, N J, Perry, J R B & al., E 2021, ' Genetic insights into biological mechanisms governing human ovarian ageing ', Nature . https://doi.org/10.1038/s41586-021-03779-7
Ruth, K S, Boomsma, D I, de Geus, E J C N, Hottenga, J J, Willemsen, G, Murray, A, Perry, J R B, China Kadoorie Biobank Collaborative Group, kConFab Investigators, The LifeLines Cohort Study, The InterAct consortium, 23Andme Research Team, Biobank-based Integrative Omics Study (BIOS) Consortium, eQTLGen Consortium & The Biobank Japan Project 2021, ' Genetic insights into biological mechanisms governing human ovarian ageing ', Nature, vol. 596, no. 7872, pp. 393-397 . https://doi.org/10.1038/s41586-021-03779-7
2021, ' Genetic insights into biological mechanisms governing human ovarian ageing ', Nature . https://doi.org/10.1038/s41586-021-03779-7

مصطلحات موضوعية: Gerontology, Aging, Far East, Endocrinology, Diabetes and Metabolism, Menopause, Premature, Genome-wide association study, VARIANTS, Primary Ovarian Insufficiency, Inbred C57BL, Bioinformatics, DISEASE, Healthy Aging, genetics of ovarian aging, Fragile X Mental Retardation Protein, Mice, Endocrinology, Medicine, EARLY MENOPAUSE, media_common, RISK, Multidisciplinary, Asia, Eastern, Reproduction, Longevity, Middle Aged, Europe, MENDELIAN RANDOMIZATION, Medical genetics, Female, ICEP, Menopause, Adult, Alleles, Animals, Bone and Bones, Checkpoint Kinase 1, Checkpoint Kinase 2, Diabetes Mellitus, Type 2, Diet, Fertility, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Mice, Inbred C57BL, Ovary, Uterus, Type 2, medicine.medical_specialty, media_common.quotation_subject, MEDLINE, Biology, Premature ovarian insufficiency, Article, genome-wide meta-analysis, SDG 3 - Good Health and Well-being, GERMLINE, Diabetes Mellitus, Genetic predisposition, Ovarian reserve, Premature, business.industry, Human genetics, CHROMOSOME SYNAPSIS, DNA-DAMAGE, Ageing, EXPRESSION ANALYSIS, business, MEIOTIC CELL-CYCLE

وصف الملف: application/pdf; application/msword

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c116da3463b05311b0eb7aaf58170e4e
https://hdl.handle.net/1887/3217417

المؤلفون: Laura Crisponi, Ivana Persico, Anirban Mandal, Anju Seth, Puneet Kaur Sahi

المصدر: Indian pediatrics. 57(11)

مصطلحات موضوعية: medicine.medical_specialty, Cytokine Receptor-Like Factor 1, business.industry, Maternal and child health, Facies, Cold-induced sweating syndrome, Sweating, Death, Sudden, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Immunology, Pediatric surgery, Mutation, Medicine, Humans, Hyperhidrosis, Trismus, Receptors, Cytokine, business, Hand Deformities, Congenital

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a8fb1aa82884c636fe2070198d4748
https://pubmed.ncbi.nlm.nih.gov/33231180

المؤلفون: Inga M. Höben, Frank Rutsch, Heymut Omran, Albrecht Röpke, Lara Schöning, Laura Crisponi, Insa Buers, Yvonne Nitschke, Niki T. Loges

المصدر: Stem Cell Research, Vol 46, Iss, Pp 101820-(2020)

مصطلحات موضوعية: 0301 basic medicine, Turkish population, Induced Pluripotent Stem Cells, Sweating, Germ layer, Crisponi syndrome, Biology, 03 medical and health sciences, 0302 clinical medicine, Humans, Hyperhidrosis, Induced pluripotent stem cell, Gene, lcsh:QH301-705.5, Cytokine Receptor-Like Factor 1, Facies, Karyotype, Cold-induced sweating syndrome, Cell Biology, General Medicine, 030104 developmental biology, lcsh:Biology (General), Cancer research, Hand Deformities, Congenital, 030217 neurology & neurosurgery, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cdbed3dcc1728cbea9624e784eb1a5f
http://www.sciencedirect.com/science/article/pii/S1873506120301227