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1دورية أكاديمية
المؤلفون: Giulia Grigioni, Christian Saleh, Phillip Jaszczuk, Dorothea Wand, Stefanie Wilmes, Margret Hund-Georgiadis
المصدر: Case Reports in Neurology, Vol 12, Iss 3, Pp 466-471 (2020)
مصطلحات موضوعية: fragile-x-associated tremor, tremor, ataxia, cerebellar atrophy, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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المؤلفون: Bernhard F. Décard, Dorothea Wand, Eva Kesenheimer, Michael Sinnreich, David Goldblum, Faady Yahya
المصدر: Klinische Monatsblätter für Augenheilkunde. 238:349-352
مصطلحات موضوعية: Corneal Dystrophies, Hereditary, Pathology, medicine.medical_specialty, business.industry, Amyloidosis, medicine.disease, Ophthalmology, Blepharochalasis, Mutation, medicine, Humans, business, Gelsolin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::447bf81d768c11a68fa2af0572780775Test
https://doi.org/10.1055/a-1386-3051Test -
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المؤلفون: Phillip Jaszczuk, Giulia Grigioni, Margret Hund-Georgiadis, Christian Saleh, Stefanie Wilmes, Dorothea Wand
المصدر: Case Reports in Neurology
Case Reports in Neurology, Vol 12, Iss 3, Pp 466-471 (2020)مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, business.industry, Alcohol abuse, Case Series − General Neurology, Disease, medicine.disease, lcsh:RC346-429, nervous system diseases, Tremor, Cerebellar atrophy, medicine, Cerebellar Degeneration, Fragile-X-associated tremor, Intention tremor, Neurology (clinical), medicine.symptom, business, Cognitive impairment, lcsh:Neurology. Diseases of the nervous system, Fragile X-associated tremor/ataxia syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5785710a0a11e1360e6cadad65d0eab1Test
http://europepmc.org/articles/PMC7772861Test -
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المؤلفون: Elisabeth Bruder, Gernot Jundt, Dorothea Wand
المصدر: Osteologie. 28:91-97
مصطلحات موضوعية: business.industry, Medicine, General Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8f31fc5bf84331517db7e802def78e9eTest
https://doi.org/10.1055/a-0832-4827Test -
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المؤلفون: Wallid Deb, Bertrand Cariou, Arnaud Wiedemann, Julien Thevenon, Rhonda E. Schnur, Vincent Ramaekers, Alexandre N. Datta, Richard Redon, Solène Conrad, Natacha Sloboda, Benjamin Cogné, François Feillet, Geneviève Baujat, Bertrand Isidor, Pierre Vabres, Tawfeg Ben-Omran, Marie Vincent, Flora Breheret, Dorothea Wand, Aline Delignières, Laurence Faivre, Betty Gardie, Xavier Balguerie, Anne-Claire Bursztejn, Marion Lenglet, Lionel Van Maldergem, Sébastien Küry, Antonin Lamaziere, Virginie Carmignac, Eva Trochu, Sébastien Barbarot, Marie-Cécile Nassogne, Erin Torti, Yue Si, Paul Kuentz, Thomas Besnard, Jean-Louis Guéant, Alice Goldenberg, Stéphane Bézieau
المساهمون: UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, Service de Génétique Médicale, Centre hospitalier universitaire de Nantes (CHU Nantes), Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), CHU Rouen, Hamad medical corporation, Centre Hospitalier Universitaire de Nancy (CHU Nancy), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Université Bourgogne Franche-Comté [COMUE] (UBFC), University of Basel (Unibas), Hôpital Bretagne Atlantique, Partenaires INRAE, École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Université Catholique de Louvain = Catholic University of Louvain (UCL), Centre Hospitalier Universitaire de Liège (CHU-Liège), Gene Dx, Centre de Génétique, Hôpital St-Antoine
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics, Vol. 21, no.9, p. 2025-2035 (2019)
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2019, 21 (9), pp.2025-2035. ⟨10.1038/s41436-019-0445-x⟩
Web of Scienceمصطلحات موضوعية: Male, Developmental Disabilities, Intellectual disability, cholesterol pathway, Whole Exome Sequencing, chemistry.chemical_compound, Missense mutation, Age of Onset, Child, Intramolecular Transferases, Genetics (clinical), Exome sequencing, Genetics, Sanger sequencing, 0303 health sciences, biology, Lanosterol, 030305 genetics & heredity, LSS, 3. Good health, Pedigree, Cholesterol, Phenotype, intellectual disability, Child, Preschool, Allelic Imbalance, Congenital cataracts, symbols, Female, Squalene, early-onset epileptic encephalopathy, 03 medical and health sciences, symbols.namesake, Cholesterol pathway, Exome Sequencing, medicine, Humans, 030304 developmental biology, Epilepsy, Infant, Alopecia, alopecia, medicine.disease, Early-onset epileptic encephalopathy, chemistry, Mutation, biology.protein, Hypotrichosis, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, Lanosterol synthase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea3cff14711e5e791a560c860d3f8040Test
https://hdl.handle.net/2078.1/239317Test -
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المؤلفون: Dorothea Wand
المصدر: Eur J Hum Genet
مصطلحات موضوعية: Genetics, Biology, Genetics (clinical), Book Review
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2daee68850f31f8bf7b4abb51bee0578Test
https://doi.org/10.1038/s41431-019-0534-yTest -
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المؤلفون: Eitan Friedman, Mattias Van Heetvelde, Jennifer B. Permuth, Joseph Vijai, Patricia A. Ganz, Jennifer A. Doherty, Argyrios Ziogas, Bernard Peissel, Edwin S. Iversen, Angela Brooks-Wilson, Ingo B. Runnebaum, Amanda B. Spurdle, Heli Nevanlinna, Kenneth Offit, Laura Papi, Georgia Chenevix-Trench, Saundra S. Buys, Martin Köbel, Fabienne Lesueur, Elizabeth W. Pugh, Joe Dennis, Sylvie Mazoyer, Diana Eccles, Shirley Hodgson, Jolanta Lissowska, Judy Garber, Pascal Pujol, Kristin K. Zorn, Orland Diez, Marcia Adams, Thomas Conner, Renée T. Fortner, Tjoung-Won Park-Simon, Vanesa García-Barberán, Kerstin Rhiem, Norbert Arnold, Karoline Kuchenbaecker, Susan M. Domchek, María Josefa Mosteiro García, Matthias W. Beckmann, Alex Henderson, Melissa C. Larson, Jane Romm, Anja Rudolph, Steven A. Narod, Mats Jernetz, Jolanta Kupryjanczyk, Natalia Bogdanova, Jacob Musinsky, Helga B. Salvesen, Jonathan Beesley, Paolo Peterlongo, Arif B. Ekici, Clarice R. Weinberg, Marion Piedmonte, Christian F. Singer, Robert L. Nussbaum, Katja K.H. Aben, Michael J. Birrer, Juul T. Wijnen, Elizabeth M. Poole, Phuong L. Mai, David J. Hunter, Tanja Pejovic, Athanassios Vratimos, Barbara Wappenschmidt, Nicolas Wentzensen, Marcus Q. Bernardini, Leigha Senter, Terence Cescon, Daniel W. Cramer, Silvia Tognazzo, Drakoulis Yannoukakos, Jacopo Azzollini, Ignace Vergote, Karen H. Lu, Gustavo C. Rodriguez, Julian Adlard, Tomasz Huzarski, Mark H. Greene, Susan L. Neuhausen, Marina Bermisheva, Alicja Wolk, Paulo C Lyra, Usha Menon, Ralf Bützow, Siddhartha Kar, Manuel R. Teixeira, Conxi Lázaro, Agnieszka Dansonka-Mieszkowska, Aleksandra Gentry-Maharaj, Zsofia K. Stadler, Melissa C. Southey, Ramunas Janavicius, Douglas F. Easton, Digna R. Velez Edwards, Jocelyne Chiquette, Karin Kast, Jonathan Tyrer, Georg Pfeiler, Tara M. Friebel, Bruno Buecher, Goska Leslie, Jackie Cook, Catherine M. Phelan, Steve Ellis, Estrid Høgdall, Beth Y. Karlan, Anthony J. Swerdlow, Sarah E. Ferguson, Rosalind Glasspool, Frans B. L. Hogervorst, Lotte Nedergaard, Britton Trabert, Jack A. Taylor, Irene L. Andrulis, Paolo Radice, Dennis J. Hazelett, Mads Thomassen, Dong Liang, Joseph H. Rothstein, Loren Lipworth, Melissa A. Merritt, Ana Vega, Petra H.M. Peeters, Claus Høgdall, Anna M. Piskorz, Bernardo Bonanni, Janet M. Lee, Malcolm C. Pike, Clemens Liebrich, Zachary C. Fogarty, Bent Ejlertsen, Yuan Chun Ding, Dieter Niederacher, Michael E. Carney, Dominique Stoppa-Lyonnet, Nadine Tung, Curtis Olswold, Ana Osorio, Fiona Bruinsma, Christine Walsh, Fabienne Prieur, Lara E. Sucheston-Campbell, Stephen B. Gruber, Maartje J. Hooning, George Fountzilas, Amanda Black, David E. Goldgar, Anna Jakubowska, Paul D.P. Pharoah, Angela R. Bradbury, Helene Holland, Ruth C. Travis, Susana Banerjee, Penelope M. Webb, Brooke L. Fridley, Clara Bodelon, Mary Anne Rossing, Yen Y. Tan, Rosa B. Barkardottir, Jong Won Lee, Stephen J. Chanock, Bruce Poppe, Sandra Fert Ferrer, Melissa Moffitt, Taymaa May, Gustavo Mendoza-Fandiño, Christopher A. Haiman, Alicia Beeghly-Fadiel, Rebecca Sutphen, Michelle A.T. Hildebrandt, Lambertus A. Kiemeney, Thilo Dörk, Douglas A. Levine, Gerasimos Aravantinos, Celeste Leigh Pearce, Sue K. Park, David Van Den Berg, Louise Izatt, Hannah P. Yang, Graham G. Giles, Linda S. Cook, John R. McLaughlin, Nick Orr, Weiva Sieh, Raymonda Varon-Mateeva, Marco Montagna, Honglin Song, Laura Ottini, Ruea-Yea Huang, Joanna Moes-Sosnowska, Anders Bojesen, David M. O'Malley, Andrew K. Godwin, Lucy Side, Sung-Won Kim, Lukasz Szafron, Christoph Engel, Harvey A. Risch, Alexander Hein, Penny Soucy, Elza Khusnutdinova, Ana Peixoto, Arto Leminen, Cora M. Aalfs, Matthias Dürst, Mary B. Daly, Patricia Rice, Nadeem Siddiqui, Dale P. Sandler, Ava Kwong, Madalene Earp, Marjorie J. Riggan, Inge Søkilde Pedersen, Susanne K. Kjaer, Mercedes Durán, Joellen M. Schildkraut, James D. Brenton, D. Gareth Evans, Liisa M. Pelttari, Kimberly F. Doheny, Karen Hosking, Miquel Angel Pujana, Salina B. Chan, Joan Brunet, Trinidad Caldés, Rosemarie Davidson, Jessica N. McAlpine, Jenny Lester, Niclas Håkansson, Kai-ren Ong, Ros Eeles, Francesmary Modugno, Martin Gore, Loic Le Marchand, Robert A. Vierkant, Wendy K. Chung, Christopher I. Amos, N. Charlotte Onland-Moret, Brita Arver, Marc Tischkowitz, Craig Luccarini, Daniel Barrowdale, Laima Tihomirova, Louise A. Brinton, Fergus J. Couch, Alfons Meindl, Nerea Larrañaga, Cristina Rodríguez-Antona, Alice S. Whittemore, Johanna I. Kiiski, Todd L. Edwards, Eric Hahnen, Grzegorz Sukiennicki, Els Van Nieuwenhuysen, Elizabeth J. van Rensburg, Michael Jones, Åke Borg, Edith Olah, Ute Hamann, Liv Cecilie Vestrheim Thomsen, Xiaoqing Chen, Ganna Chornokur, Minouk J. Schoemaker, Marc T. Goodman, Fanny Dao, Andrea Gehrig, Hagay Sobol, Nhu D. Le, Esther M. John, Adriaan Vanderstichele, Antonia Trichopoulou, Kunle Odunsi, Yukie Bean, David G. Huntsman, Lidia Pezzani, V. Wendy Setiawan, Marinus J. Blok, Yael Laitman, Mary Porteous, Patricia Harrington, Samantha Poblete, Shashikant Lele, Anne M. van Altena, Mingajeva Elvira, Lene Lundvall, Dominique Leroux, Annemarie H. van der Hout, Darya Prokofyeva, Debra Frost, Yoke-Eng Chiew, Gad Rennert, Stacey J. Winham, Muy-Kheng Tea, Kirsten B. Moysich, Angel Izquierdo, Anna H. Wu, Christine Rappaport-Fuerhauser, Peter Hillemanns, Rob B. van der Luijt, Gord Glendon, Jan Lubinński, Csilla Szabo, Gillian Mitchell, Andrea L. Richardson, Mark E. Robson, Roger L. Milne, Thomas Hansen, Francesca Damiola, Tameka Shelford, Natalia Antonenkova, Julie Lecarpentier, Paul A. James, Claudine Isaacs, Gianluca Severi, Maria A. Caligo, Teodora Goranova, Kate Lawrenson, Sandra Orsulic, Priyanka Sharma, Holly R. Harris, Peter A. Fasching, Christian Sutter, Torben A Kruse, Line Bjørge, Lesley McGuffog, Leon F.A.G. Massuger, Lynne R. Wilkens, Reidun K. Kopperud, Jillian Hung, Iain A. McNeish, Hanne Meijers-Heijboer, Uffe Birk Jensen, Diether Lambrechts, Johanna Rantala, Kelly-Anne Phillips, Michelle M.M. Woo, Kathryn L. Terry, Kathleen Claes, Ellen L. Goode, Olufunmilayo I. Olopade, Darcy L. Thull, Ailith Pirie, Sharon E. Johnatty, Soo Hwang Teo, Aimee A D'Aloisio, Evgeny N. Imyanitov, Domenico Palli, Andrew Berchuck, Banu Arun, Florentia Fostira, Jan Hauke, Jenny Chang-Claude, Pamela J. Thompson, Peter J. Hulick, Per Broberg, Arjen R. Mensenkamp, Xifeng Wu, Alicia A. Tone, Jacques Simard, Ursula Eilber, Jacek Gronwald, Kenneth Blankstein, James M. Flanagan, Alvaro N.A. Monteiro, Timea Pocza, Rita K. Schmutzler, Jeffrey N. Weitzel, Simon A. Gayther, William D. Foulkes, Valerie McGuire, Katherine L. Nathanson, Kevin H. Eng, Anna deFazio, Ian G. Campbell, Capucine Delnatte, Shan Wang-Gohrke, Jenna Lilyquist, Matti A. Rookus, Sakaeva Dina Damirovna, Laure Dossus, Simon G. Coetzee, Catherine J. Kennedy, Roberta B. Ness, James Paul, Andrew Lee, Linda E. Kelemen, Judith Balmaña, Anne-Marie Gerdes, Laure Barjhoux, Håkan Olsson, Lisa Walker, Doris Steinemann, Cecilia M. Dorfling, Julie M. Cunningham, Shelley S. Tworoger, Allan Jensen, Thomas A. Sellers, Javier Benitez, Anthony N. Karnezis, Hoda Anton-Culver, Carole Brewer, Siranoush Manoukian, Dorothea Wand, Ed Dicks, Antonis C. Antoniou, Amanda E. Toland, Anna Marie Mulligan, Päivi Kannisto, Rikki Cannioto, Bernd Dworniczak, Susan J. Ramus, Anna V. Tinker
المساهمون: Epidemiology and Data Science, Amsterdam Reproduction & Development (AR&D), CCA - Cancer biology and immunology, Amsterdam Neuroscience - Complex Trait Genetics, Human genetics, MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Government of Canada, Cancer Research Foundation, Canadian Institutes of Health Research, National Institutes of Health (US), Fonds de Recherche du Québec, Ministry of Health and Welfare (South Korea), Associazione Italiana per la Ricerca sul Cancro, Deutsche Krebshilfe, Genome Canada, Medical Oncology, Clinical Genetics, Human Genetics, ARD - Amsterdam Reproduction and Development, Centre Léon Bérard [Lyon], Service de Génétique Oncologique, Institut Curie [Paris], CRLCC René Gauducheau, Centre International de Recherche contre le Cancer - International Agency for Research on Cancer (CIRC - IARC), Organisation Mondiale de la Santé / World Health Organization Office (OMS / WHO), Centre Hospitalier Métropole Savoie [Chambéry], CHU Grenoble, Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, Institut Curie [Paris]-MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM), MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Saint-Etienne, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université Paris-Sud - Paris 11 - Faculté de médecine (UP11 UFR Médecine), Université Paris-Sud - Paris 11 (UP11), Institut Gustave Roussy (IGR), Université Paris-Saclay, Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Tyrer, Jonathan [0000-0003-3724-4757], Dennis, Joe [0000-0003-4591-1214], Dicks, Ed [0000-0002-0617-0401], Lee, Andrew [0000-0003-0677-0252], Leslie, Goska [0000-0001-5756-6222], Brenton, James [0000-0002-5738-6683], Song, Honglin [0000-0001-5076-7371], Tischkowitz, Marc [0000-0002-7880-0628], Easton, Douglas [0000-0003-2444-3247], Antoniou, Antonis [0000-0001-9223-3116], Pharoah, Paul [0000-0001-8494-732X], Apollo - University of Cambridge Repository
المصدر: Nature Genetics, 49(5), 680-691. Nature Publishing Group
Digital.CSIC. Repositorio Institucional del CSIC
instname
Phelan, C M, Kuchenbaecker, K B, Tyrer, J P, Kar, S P, Lawrenson, K, Winham, S J, Dennis, J, Pirie, A, Riggan, M J, Chornokur, G, Earp, M A, Lyra, P C, Lee, J M, Coetzee, S, Beesley, J, McGuffog, L, Soucy, P, Dicks, E, Lee, A R, Barrowdale, D, Lecarpentier, J, Leslie, G, Aalfs, C M, Aben, K K H, Adams, M, Adlard, J, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Aravantinos, G, Arnold, N, Arun, B K, Arver, B, Azzollini, J, Balmaña, J, Banerjee, S N, Barjhoux, L, Barkardottir, R B, Bean, Y T, Beckmann, M W, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, M Q, Birrer, M J, Bjorge, L, Black, A, Blankstein, K, Blok, M J, Pedersen, I S & AOCS study group 2017, ' Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer ', Nature Genetics, vol. 49, no. 5, pp. 680-691 . https://doi.org/10.1038/ng.3826Test
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Nature Genetics, 49(5), 680. Nature Publishing Group
Recercat. Dipósit de la Recerca de Catalunya
Nature Genetics, 49(5), 680-+. Nature Publishing Group
NATURE GENETICS
Nature Genetics
Nature genetics, 49(5), 680-691. Nature Publishing Group
Phelan, C M, Kuchenbaecker, K B, Tyrer, J P, Kar, S P, Lawrenson, K, Winham, S J, Dennis, J, Pirie, A, Riggan, M J, Chornokur, G, Earp, M A, Lyra, P C, Lee, J M, Coetzee, S, Beesley, J, McGuffog, L, Soucy, P, Dicks, E, Lee, A, Barrowdale, D, Lecarpentier, J, Leslie, G, Aalfs, C M, Aben, K K H, Adams, M, Adlard, J, Andrulis, I L, Anton-Culver, H, Antonenkova, N, Aravantinos, G, Arnold, N, Arun, B K, Arver, B, Azzollini, J, Balmana, J, Banerjee, S N, Barjhoux, L, Barkardottir, R B, Bean, Y, Beckmann, M W, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, M Q, Birrer, M J, Bjorge, L, Black, A, Blankstein, K, Blok, M J, Jensen, U B, AOCS Study Grp, EMEMBRACE Study, GEMO Study Collaborators, HEBON Study & OPAL Study Grp 2017, ' Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer ', Nature Genetics, vol. 49, no. 5, pp. 680-+ . https://doi.org/10.1038/ng.3826Test
Phelan, C M, Kuchenbaecker, K B, Tyrer, J P, Kar, S P, Lawrenson, K, Winham, S J, Dennis, J, Pirie, A, Riggan, M J, Chornokur, G, Earp, M A, Lyra, P C, Lee, J M, Coetzee, S, Beesley, J, McGuffog, L, Soucy, P, Dicks, E, Lee, A, Barrowdale, D, Lecarpentier, J, Leslie, G, Aalfs, C M, Aben, K K H, Adams, M, Adlard, J, Andrulis, I L, Anton-Culver, H, Antonenkova, N, Aravantinos, G, Arnold, N, Arun, B K, Arver, B, Azzollini, J, Balmaña, J, Banerjee, S N, Barjhoux, L, Barkardottir, R B, Bean, Y, Beckmann, M W, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, M Q, Birrer, M J, Bjorge, L, Black, A, Blankstein, K, Hooning, M J, Meijers-Heijboer, H, HEBON Study, AOCS study group, EMBRACE Study, OPAL study group, KConFab Investigators & GEMO Study Collaborators 2017, ' Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer ', Nature Genetics, vol. 49, no. 5, pp. 680-691 . https://doi.org/10.1038/ng.3826Test
Dipòsit Digital de la UB
Universidad de Barcelona
Nature Genetics, Nature Publishing Group, 2017, 49 (5), pp.680-691. ⟨10.1038/ng.3826⟩
Nature Genetics, 49(5), 680
Phelan, C M, Kuchenbaecker, K B, Tyrer, J P, Kar, S P, Lawrenson, K, Winham, S J, Dennis, J, Pirie, A, Riggan, M J & Orr, N 2017, ' Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer ', Nature Genetics, vol. 49, pp. 680-691 . https://doi.org/10.1038/ng.3826Test
Nature Genetics, 49, 5, pp. 680-691
Phelan, C M, Kuchenbaecker, K B, Tyrer, J P, Kar, S P, Lawrenson, K, Winham, S J, Dennis, J, Pirie, A, Riggan, M J, Chornokur, G, Earp, M A, Lyra, P C, Lee, J M, Coetzee, S, Beesley, J, McGuffog, L, Soucy, P, Dicks, E, Lee, A, Barrowdale, D, Lecarpentier, J, Leslie, G, Aalfs, C M, Aben, K K H, Adams, M, Adlard, J, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Aravantinos, G, Arnold, N, Arun, B K, Arver, B, Azzollini, J, Balmaña, J, Banerjee, S N, Barjhoux, L, Barkardottir, R B, Bean, Y, Beckmann, M W, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, M Q, Birrer, M J, Bjorge, L, Bojesen, A, Gerdes, A-M, Kruse, T A, Thomassen, M & AOCS study group 2017, ' Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer ', Nature Genetics, vol. 49, no. 5, pp. 680-691 . https://doi.org/10.1038/ng.3826Test
Nature Genetics, 49, 680-691مصطلحات موضوعية: 0301 basic medicine, endocrine system diseases, Epidemiology, Càncer d'ovari, Genome-wide association study, Carcinoma, Ovarian Epithelial, Genome-wide association studies, susceptibility, Risk Factors, Genotype, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Medicine and Health Sciences, Neoplasms, Glandular and Epithelial, POPULATION, Genetics & Heredity, Genetics, Ovarian Neoplasms, RISK, education.field_of_study, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], cancer, ovary, BRCA1 Protein, COMMON VARIANTS, 11 Medical And Health Sciences, ASSOCIATION, female genital diseases and pregnancy complications, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], 3. Good health, Serous fluid, ovarian cancer, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], Female, Life Sciences & Biomedicine, epithelial ovarian cancer, BRCA1, BRCA2, Population, Telomere-Binding Proteins, [SDV.CAN]Life Sciences [q-bio]/Cancer, Locus (genetics), Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Meta-Analysis as Topic, CLEAR-CELL CARCINOMA, Ovarian cancer, medicine, Journal Article, Humans, BREAST-CANCER, Genetic Predisposition to Disease, Allele, education, Genotyping, Alleles, METAANALYSIS, BRCA2 Protein, [SDV.GEN]Life Sciences [q-bio]/Genetics, Science & Technology, MUTATIONS, ENDOMETRIOSIS, Biology and Life Sciences, 06 Biological Sciences, medicine.disease, 030104 developmental biology, Genetic Loci, Mutation, TELOMERE LENGTH, Cancer research, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Developmental Biology, Genome-Wide Association Study
وصف الملف: application/pdf; image/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::729fa0fd3d32d2b40319c1007008477bTest
https://research.vumc.nl/en/publications/c8060098-86c9-4726-9f15-648de0136322Test -
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المؤلفون: Joachim Weis, Malte Kornhuber, Christian Kunze, Kay Nolte, Dorothea Wand, J. Michael Schröder, Stefan Nikolin, Kathleen Parthey
المصدر: Muscle & Nerve. 45:284-290
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Mutation, medicine.diagnostic_test, Physiology, Waardenburg syndrome, SOX10, Magnetic resonance imaging, Anatomy, Biology, medicine.disease_cause, medicine.disease, Hypoplasia, Peripheral amyelination, Cellular and Molecular Neuroscience, Exon, nervous system, Physiology (medical), medicine, Neurology (clinical), Cerebellar hypoplasia (non-human)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::24424eec95320207f36786b7bc2eb164Test
https://doi.org/10.1002/mus.22262Test -
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المؤلفون: Raoul Heller, Wieland Kiess, Eva Klopocki, Dorothea Wand, Werner Siekmeyer, Anja Hagen, Manuela Siekmeyer, Arndt Bigl, Andreas Merkenschlager
المصدر: American Journal of Medical Genetics Part A. 155:3075-3081
مصطلحات موضوعية: Adult, Monosomy, Pediatrics, medicine.medical_specialty, Genotype, Abnormal Karyotype, Chromosome Disorders, Trisomy, Chromosomal translocation, Loss of heterozygosity, Young Adult, Genetics, medicine, Humans, Genetics (clinical), Comparative Genomic Hybridization, Arthrogryposis multiplex congenita, Muscular hypotonia, Chromosomes, Human, Pair 10, business.industry, Chromosomes, Human, Pair 11, Facies, Chromosome, Karyotype, medicine.disease, Phenotype, Female, Chromosome Deletion, business, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6795bd8849024fc49078ef76d63069ffTest
https://doi.org/10.1002/ajmg.a.34300Test -
10
المؤلفون: Dorothea Wand, Petra Muschke, M. Krieger, Martin Häussler, Haluk Topaloglu, Francesco Benedicenti, Franco Stanzial, Laura Pirra, Fatma Mujgan Sonmez, Sabine Rudnik-Schöneborn, Helen Kingston, Stacey K.H. Tay, Francesca Inzana, Janbernd Kirschner, Denise Williams, Sabrina Spengler, Claudia Stendel, Richard S. Finkel, Kristl G. Claeys, Peter Bauer, Andreas Dufke, Ana Lia Taratuto, Antje Bornemann, Andreas Roos, Hans H. Goebel, Jan Senderek, Michael Baudis, Joachim Weis, Christian de Goede, Klaus Zerres, François Rivier, Gökhan Uyanik, Matthis Synofzik, Livija Medne
المساهمون: Çocuk Sağlığı ve Hastalıkları, University of Zurich, Senderek, Jan
المصدر: Brain 136(12), 3634-3644 (2013). doi:10.1093/brain/awt283
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Ataxia, ultrastructure [Muscle, Skeletal], SIL1 protein, human, Adolescent, Marinesco–Sjögren syndrome, DNA Mutational Analysis, genetics [Mutation], Bioinformatics, medicine.disease_cause, pathology [Muscle, Skeletal], physiopathology [Spinocerebellar Degenerations], Cataracts, pathology [Brain], Intellectual disability, medicine, Guanine Nucleotide Exchange Factors, Humans, ddc:610, Myopathy, Muscle, Skeletal, Cells, Cultured, Retrospective Studies, Spinocerebellar Degenerations, Family Health, Mutation, B-Lymphocytes, Cerebellar ataxia, business.industry, Brain, medicine.disease, genetics [Guanine Nucleotide Exchange Factors], Magnetic Resonance Imaging, 10124 Institute of Molecular Life Sciences, genetics [Spinocerebellar Degenerations], 2728 Neurology (clinical), pathology [Spinocerebellar Degenerations], ultrastructure [Brain], 570 Life sciences, biology, Allelic heterogeneity, Female, Neurology (clinical), Neurosciences & Neurology, medicine.symptom, business
وصف الملف: text/plain; SIL1_Marinesco_Sjoegren_manuscript.pdf - application/pdf; awt283.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6eb2187c1ba49d8cf0bc2c7afc2d235Test
https://pubmed.ncbi.nlm.nih.gov/24176978Test