Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report

Autor: Giulia Grigioni, Christian Saleh, Phillip Jaszczuk, Dorothea Wand, Stefanie Wilmes, Margret Hund-Georgiadis

Publikováno v: Case Reports in Neurology, Vol 12, Iss 3, Pp 466-471 (2020)

Fragile-X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that manifests with intention tremor, progressive gait ataxia, and cognitive impairment. The disease is genetically characterized by a premutation of the FMR1gene on

Externí odkaz: https://doaj.org/article/cd9b0f5ef55942109aa89b969a78899a

Gelsolin-Amyloidosis – An Exceptional Cause of Blepharochalasis

Autor: Bernhard F. Décard, Dorothea Wand, Eva Kesenheimer, Michael Sinnreich, David Goldblum, Faady Yahya

Publikováno v: Klinische Monatsblätter für Augenheilkunde. 238:349-352

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::447bf81d768c11a68fa2af0572780775
https://doi.org/10.1055/a-1386-3051

Vaskuläre Läsionen des Skeletts – Pathologie und Genetik

Autor: Elisabeth Bruder, Gernot Jundt, Dorothea Wand

Publikováno v: Osteologie. 28:91-97

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8f31fc5bf84331517db7e802def78e9e
https://doi.org/10.1055/a-0832-4827

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Autor: 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

Publikováno v: 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.3826
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.3826
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.3826
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.3826
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.3826
Nature Genetics, 49, 680-691

The OCAC OncoArray genotyping project: et al.
To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::729fa0fd3d32d2b40319c1007008477b
https://research.vumc.nl/en/publications/c8060098-86c9-4726-9f15-648de0136322

SOX10mutation with peripheral amyelination and developmental disturbance of axons

Autor: Joachim Weis, Malte Kornhuber, Christian Kunze, Kay Nolte, Dorothea Wand, J. Michael Schröder, Stefan Nikolin, Kathleen Parthey

Publikováno v: Muscle & Nerve. 45:284-290

In this study we describe a case of a term infant with the neurological variant of Waardenburg syndrome type 4 (i.e., PCWH = peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::24424eec95320207f36786b7bc2eb164
https://doi.org/10.1002/mus.22262