Trends in congenital anomalies in Europe from 1980 to 2012.

Autor: Joan K Morris, Anna L Springett, Ruth Greenlees, Maria Loane, Marie-Claude Addor, Larraitz Arriola, Ingeborg Barisic, Jorieke E H Bergman, Melinda Csaky-Szunyogh, Carlos Dias, Elizabeth S Draper, Ester Garne, Miriam Gatt, Babak Khoshnood, Kari Klungsoyr, Catherine Lynch, Robert McDonnell, Vera Nelen, Amanda J Neville, Mary O'Mahony, Anna Pierini, Annette Queisser-Luft, Hanitra Randrianaivo, Judith Rankin, Anke Rissmann, Jennifer Kurinczuk, David Tucker, Christine Verellen-Dumoulin, Diana Wellesley, Helen Dolk

Publikováno v: PLoS ONE, Vol 13, Iss 4, p e0194986 (2018)

BACKGROUND:Surveillance of congenital anomalies is important to identify potential teratogens. METHODS:This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980-2012)

Externí odkaz: https://doaj.org/article/d3844b173656484c97bb836195609e36

Epidemiology of congenital cerebral anomalies in Europe

Autor: Kari Klungsøyr, Ingeborg Barisic, Olatz Mokoroa, Diana Wellesley, Martin Haeusler, Karen Luyt, Catherine Lynch, Monica Lanzoni, Ester Garne, Bruno Schaub, Mary O'Mahony, Christine Verellen-Dumoulin, Anna Pierini, Elizabeth S Draper, Florence Rouget, Awi Wiesel, Clara Cavero-Carbonell, Anke Rissmann, Natalia Zymak-Zakutnia, Jennifer J Kurinczuk, David Tucker, Miriam Gatt, Amanda J. Neville, Vera Nelen, Joan K Morris, Judith Rankin, Hanitra Randrianaivo, Natalie Lelong, Paula Braz, Jorieke E. H. Bergman, Marie-Claude Addor

Publikováno v: Morris, J K, Wellesley, D G, Barisic, I, Addor, M-C, Bergman, J E H, Braz, P, Cavero-Carbonell, C, Draper, E S, Gatt, M, Haeusler, M, Klungsoyr, K, Kurinczuk, J J, Lelong, N, Luyt, K, Lynch, C, O'Mahony, M T, Mokoroa, O, Nelen, V, Neville, A J, Pierini, A, Randrianaivo, H, Rankin, J, Rissmann, A, Rouget, F, Schaub, B, Tucker, D F, Verellen-Dumoulin, C, Wiesel, A, Zymak-Zakutnia, N, Lanzoni, M & Garne, E 2019, ' Epidemiology of congenital cerebral anomalies in Europe : a multicentre, population-based EUROCAT study ', Archives of Disease in Childhood, vol. 104, no. 12, pp. 1181-1187 . https://doi.org/10.1136/archdischild-2018-316733
Archives of Disease in Childhood
Morris, J K, Wellesley, D G, Barisic, I, Addor, M-C, Bergman, J E H, Braz, P, Cavero-Carbonell, C, Draper, E S, Gatt, M, Haeusler, M, Klungsoyr, K, Kurinczuk, J J, Lelong, N, Luyt, K, Lynch, C, O'Mahony, M T, Mokoroa, O, Nelen, V, Neville, A J, Pierini, A, Randrianaivo, H, Rankin, J, Rissmann, A, Rouget, F, Schaub, B, Tucker, D F, Verellen-Dumoulin, C, Wiesel, A, Zymak-Zakutnia, N, Lanzoni, M & Garne, E 2019, ' Epidemiology of congenital cerebral anomalies in Europe : a multicentre, population-based EUROCAT study ', Archives of Disease in Childhood . https://doi.org/10.1136/archdischild-2018-316733
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Archives of Disease in Childhood, 104(12), 1181-1187. BMJ PUBLISHING GROUP

ObjectivesTo describe the epidemiology and geographical differences in prevalence of congenital cerebral anomalies in Europe.Design and settingCongenital cerebral anomalies (International Classification of Diseases, 10th Revision code Q04) recorded i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d957d9b4dbdff33346f40b8492f64a8
https://doi.org/10.1136/archdischild-2018-316733

Prevention of Neural Tube Defects in Europe

Autor: Eva Bermejo-Sánchez, Paula Braz, Laia Barrachina-Bonet, Hermien E. K. de Walle, Ingeborg Barisic, Sonja Kiuru-Kuhlefelt, Martin Haeusler, Nathalie Lelong, Anke Rissmann, Clara Cavero-Carbonell, Sarah Stevens, Florence Rouget, Mary O'Mahony, Babak Khoshnood, Wladimir Wertelecki, Anna Pierini, Kari Klungsøyr, Elly Den Hond, Antonin Sipek, Elisa Ballardini, Joan K. Morris, Ester Garne, David Tucker, Elizabeth S Limb, Gerardine Sayers, Miriam Gatt, Judith Rankin, Diana Wellesley, Agnieszka Kinsner-Ovaskainen, Christine Verellen-Dumoulin, Anna Latos-Bielenska, Marie-Claude Addor, Isabelle Perthus

Publikováno v: Frontiers in pediatrics
Frontiers in Pediatrics
Frontiers in Pediatrics, Frontiers, 2021, 9, pp.647038. ⟨10.3389/fped.2021.647038⟩
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics, 2021, 9, pp.647038. ⟨10.3389/fped.2021.647038⟩
Morris, J K, Addor, M C, Ballardini, E, Barisic, I, Barrachina-Bonet, L, Braz, P, Cavero-Carbonell, C, Den Hond, E, Garne, E, Gatt, M, Haeusler, M, Khoshnood, B, Lelong, N, Kinsner-Ovaskainen, A, Kiuru-Kuhlefelt, S, Klungsoyr, K, Latos-Bielenska, A, Limb, E, O'Mahony, M T, Perthus, I, Pierini, A, Rankin, J, Rissmann, A, Rouget, F, Sayers, G, Sipek, A, Stevens, S, Tucker, D, Verellen-Dumoulin, C, de Walle, H E K, Wellesley, D, Wertelecki, W & Bermejo-Sanchez, E 2021, ' Prevention of Neural Tube Defects in Europe : A Public Health Failure ', Frontiers in Pediatrics, vol. 9, 647038 . https://doi.org/10.3389/fped.2021.647038
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repisalud
Instituto de Salud Carlos III (ISCIII)
Frontiers in Pediatrics, 9:647038. Frontiers Media S.A.

Objective: Thirty years ago it was demonstrated that folic acid taken before pregnancy and in early pregnancy reduced the risk of a neural tube defect (NTD). Despite Public Health Initiatives across Europe recommending that women take 0.4 mg folic ac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e41ca4dc5ff8b1e506ff8208c729170b
https://hdl.handle.net/11370/df9a28ce-6b72-4733-a309-926a8a196338

Identification of genetic variants associated with Huntington's disease progression

Autor: Davina J Hensman Moss, Antonio F Pardiñas, Douglas Langbehn, Kitty Lo, Blair R Leavitt, Raymund Roos, Alexandra Durr, Simon Mead, Peter Holmans, Lesley Jones, Sarah J Tabrizi, A Coleman, R Dar Santos, J Decolongon, A Sturrock, E Bardinet, C Jauff Ret, D Justo, S Lehericy, C Marelli, K Nigaud, R Valabrègue, SJA van den Bogaard, E M Dumas, J van der Grond, EP t'Hart, C Jurgens, M-N Witjes-Ane, N Arran, J Callaghan, C Stopford, C Frost, R Jones, N Hobbs, N Lahiri, R Ordidge, G Owen, T Pepple, J Read, M Say, E Wild, A Patel, N C Fox, C Gibbard, I Malone, H Crawford, D Whitehead, S Keenan, D M Cash, C Berna, N Bechtel, S Bohlen, A Hoff Man, P Kraus, E Axelson, C Wang, T Acharya, S Lee, W Monaco, C Campbell, S Queller, K Whitlock, M Campbell, E Frajman, C Milchman, A O'Regan, I Labuschagne, J Stout, B Landwehrmeyer, D Craufurd, R Scahill, S Hicks, C Kennard, H Johnson, A Tobin, HD Rosas, R Reilmann, B Borowsky, C Pourchot, S C Andrews, Anne-Catherine Bachoud-Lévi, Anna Rita Bentivoglio, Ida Biunno, Raphael Bonelli, Jean-Marc Burgunder, Stephen Dunnett, Joaquim Ferreira, Olivia Handley, Arvid Heiberg, Torsten Illmann, G. Bernhard Landwehrmeyer, Jamie Levey, Maria A. Ramos-Arroyo, Jørgen Nielsen, Susana Pro Koivisto, Markku Päivärinta, Raymund A.C. Roos, A Rojo Sebastián, Sarah Tabrizi, Wim Vandenberghe, Christine Verellen-Dumoulin, Tereza Uhrova, Jan Wahlström, Jacek Zaremba, Verena Baake, Katrin Barth, Monica Bascuñana Garde, Sabrina Betz, Reineke Bos, Jenny Callaghan, Adrien Come, Leonor Correia Guedes, Daniel Ecker, Ana Maria Finisterra, Ruth Fullam, Mette Gilling, Lena Gustafsson, Olivia J Handley, Carina Hvalstedt, Christine Held, Kerstin Koppers, Claudia Lamanna, Matilde Laurà, Asunción Martínez Descals, Saül Martinez-Horta, Tiago Mestre, Sara Minster, Daniela Monza, Lisanne Mütze, Martin Oehmen, Michael Orth, Hélène Padieu, Laurent Paterski, Nadia Peppa, Martina Di Renzo, Amandine Rialland, Niini Røren, Pavla Šašinková, Erika Timewell, Jenny Townhill, Patricia Trigo Cubillo, Wildson Vieira da Silva, Marleen R van Walsem, Carina Whalstedt, Marie-Noelle Witjes-Ané, Grzegorz Witkowski, Abigail Wright, Daniel Zielonka, Eugeniusz Zielonka, Paola Zinzi, Raphael M. Bonelli, Sabine Lilek, Karen Hecht, Brigitte Herranhof, Anna Holl, Hans-Peter Kapfhammer, Michael Koppitz, Markus Magnet, Nicole Müller, Daniela Otti, Annamaria Painold, Karin Reisinger, Monika Scheibl, Helmut Schöggl, Jasmin Ullah, Eva-Maria Braunwarth, Florian Brugger, Lisa Buratti, Eva-Maria Hametner, Caroline Hepperger, Christiane Holas, Anna Hotter, Anna Hussl, Christoph Müller, Werner Poewe, Klaus Seppi, Fabienne Sprenger, Gregor Wenning, Andrea Boogaerts, Godelinde Calmeyn, Isabelle Delvaux, Dirk Liessens, Nele Somers, Michel Dupuit, Cécile Minet, Dominique van Paemel, Pascale Ribaï, Dimphna van Reijen, Jirí Klempír, Veronika Majerová, Jan Roth, Irena Stárková, Lena E. Hjermind, Oda Jacobsen, Jørgen E. Nielsen, Ida Unmack Larsen, Tua Vinther-Jensen, Heli Hiivola, Hannele Hyppönen, Kirsti Martikainen, Katri Tuuha, Philippe Allain, Dominique Bonneau, Marie Bost, Bénédicte Gohier, Marie-Anne Guérid, Audrey Olivier, Adriana Prundean, Clarisse Scherer-Gagou, Christophe Verny, Blandine Babiloni, Sabrina Debruxelles, Charlotte Duché, Cyril Goizet, Laetitia Jameau, Danielle Lafoucrière, Umberto Spampinato, Rekha Barthélémy, Christelle De Bruycker, Maryline Cabaret Anne-Sophie Carette, Eric Decorte Luc Defebvre, Marie Delliaux, Arnaud Delval, Alain Destee, Kathy Dujardin, Marie-Hélène Lemaire, Sylvie Manouvrier, Mireille Peter, Lucie Plomhouse, Bernard Sablonnière, Clémence Simonin, Stéphanie Thibault-Tanchou, Isabelle Vuillaume, Marcellin Bellonet, Hassan Berrissoul, Stéphanie Blin, Françoise Courtin, Cécile Duru, Véronique Fasquel, Olivier Godefroy, Pierre Krystkowiak, Béatrice Mantaux, Martine Roussel, Sandrine Wannepain, Jean-Philippe Azulay, Marie Delfini, Alexandre Eusebio, Frédérique Fluchere, Laura Mundler, Mathieu Anheim, Celine Julié, Ouhaid Lagha Boukbiza, Nadine Longato, Gabrielle Rudolf, Christine Tranchant, Marie-Agathe Zimmermann, Christoph Michael Kosinski, Eva Milkereit, Daniela Probst, Kathrin Reetz, Christian Sass, Johannes Schiefer, Christiane Schlangen, Cornelius J. Werner, Harald Gelderblom, Josef Priller, Harald Prüß, Eike Jakob Spruth, Gisa Ellrichmann, Lennard Herrmann, Rainer Hoffmann, Barbara Kaminski, Peter Kotz, Christian Prehn, Carsten Saft, Herwig Lange, Robert Maiwald, Matthias Löhle, Antonia Maass, Simone Schmidt, Cecile Bosredon, Alexander Storch, Annett Wolz, Martin Wolz, Philipp Capetian, Johann Lambeck, Birgit Zucker, Kai Boelmans, Christos Ganos, Walburgis Heinicke, Ute Hidding, Jan Lewerenz, Alexander Münchau, Jenny Schmalfeld, Lars Stubbe, Simone Zittel, Gabriele Diercks, Dirk Dressler, Heike Gorzolla, Christoph Schrader, Pawel Tacik, Michael Ribbat, Bernhard Longinus, Katrin Bürk, Jens Carsten Möller, Ida Rissling, Mark Mühlau, Alexander Peinemann, Michael Städtler, Adolf Weindl, Juliane Winkelmann, Cornelia Ziegler, Natalie Bechtel, Heike Beckmann, Stefan Bohlen, Eva Hölzner, Ralf Reilmann, Stefanie Rohm, Silke Rumpf, Sigrun Schepers, Natalia Weber, Matthias Dose, Gabriele Leythäuser, Ralf Marquard, Tina Raab, Alexandra Wiedemann, Andrea Buck, Julia Connemann, Carolin Geitner, Andrea Kesse, Bernhard Landwehrmeyer, Christina Lang, Franziska Lezius, Solveig Nepper, Anke Niess, Ariane Schneider, Daniela Schwenk, Sigurd Süßmuth, Sonja Trautmann, Patrick Weydt, Claudia Cormio, Vittorio Sciruicchio, Claudia Serpino, Marina de Tommaso, Sabina Capellari, Pietro Cortelli, Roberto Galassi, Giovanni Rizzo, Roberto Poda, Cesa Scaglione, Elisabetta Bertini, Elena Ghelli, Andrea Ginestroni, Francesca Massaro, Claudia Mechi, Marco Paganini, Silvia Piacentini, Silvia Pradella, Anna Maria Romoli, Sandro Sorbi, Giovanni Abbruzzese, Monica Bandettini di Poggio, Giovanna Ferrandes, Paola Mandich, Roberta Marchese, Alberto Albanese, Daniela Di Bella, Anna Castaldo, Stefano Di Donato, Cinzia Gellera, Silvia Genitrini, Caterina Mariotti, Lorenzo Nanetti, Dominga Paridi, Paola Soliveri, Chiara Tomasello, Giuseppe De Michele, Luigi Di Maio, Marco Massarelli, Silvio Peluso, Alessandro Roca, Cinzia Valeria Russo, Elena Salvatore, Pierpaolo Sorrentino, Enrico Amico, Mariagrazia Favellato, Annamaria Griguoli, Irene Mazzante, Martina Petrollini, Ferdinando Squitieri, Barbara D'Alessio, Chiara Esposito, Rita Bentivoglio, Marina Frontali, Arianna Guidubaldi, Tamara Ialongo, Gioia Jacopini, Carla Piano, Silvia Romano, Francesco Soleti, Maria Spadaro, Monique S.E. van Hout, Marloes E. Verhoeven, Jeroen P.P. van Vugt, A. Marit de Weert, J.J.W. Bolwijn, M. Dekker, B. Kremer, K.L. Leenders, J.C.H. van Oostrom, Simon J.A. van den Bogaard, Eve M. Dumas, Ellen P. 't Hart, Berry Kremer, C.C.P. Verstappen, Olaf Aaserud, Jan Frich C, Ragnhild Wehus, Kathrine Bjørgo, Madeleine Fannemel, Per F. Gørvell, Eirin Lorentzen, Lars Retterstøl, Bodil Stokke, Inga Bjørnevoll, Sigrid Botne Sando, Artur Dziadkiewicz, Malgorzata Nowak, Piotr Robowski, Emilia Sitek, Jaroslaw Slawek, Witold Soltan, Michal Szinwelski, Magdalena Blaszcyk, Magdalena Boczarska-Jedynak, Ewelina Ciach-Wysocka, Agnieszka Gorzkowska, Barbara Jasinska-Myga, Gabriela Klodowska-Duda, Gregorz Opala, Daniel Stompel, Krzysztof Banaszkiewicz, Dorota Bocwinska, Kamila Bojakowska-Jaremek, Malgorzata Dec, Malgorzata Krawczyk, Monika Rudzinska, Elzbieta Szczygiel, Andrzej Szczudlik, Anna Wasielewska, Magdalena Wójcik, Anna Bryl, Anna Ciesielska, Aneta Klimberg, Jerzy Marcinkowski, Husam Samara, Justyna Sempolowicz, Anna Gogol, Piotr Janik, Hubert Kwiecinski, Zygmunt Jamrozik, Jakub Antczak, Katarzyna Jachinska, Wioletta Krysa, Maryla Rakowicz, Przemyslaw Richter, Rafal Rola, Danuta Ryglewicz, Halina Sienkiewicz-Jarosz, Iwona Stepniak, Anna Sulek, Elzbieta Zdzienicka, Karolina Zieora-Jakutowicz, Joaquim J Ferreira, Miguel Coelho, Tiago Mendes, Anabela Valadas, Carlos Andrade, Miguel Gago, Carolina Garrett, Maria Rosália Guerra, Carmen Durán Herrera, Patrocinio Moreno Garcia, Miquel Aguilar Barbera, Dolors Badenes Guia, Laura Casas Hernanz, Judit López Catena, Pilar Quiléz Ferrer, Ana Rojo Sebastián, Gemma Tome Carruesco, Jordi Bas, Núria Busquets, Matilde Calopa, Misericordia Floriach Robert, Celia Mareca Viladrich, Jesús Miguel Ruiz Idiago, Antonio Villa Riballo, Esther Cubo, Cecilia Gil Polo, Natividad Mariscal, Perez Jessica Rivadeneyra, Francisco Barrero, Blas Morales, María Fenollar, Rocío García-Ramos García, Paloma Ortega, Clara Villanueva, Javier Alegre, Mónica Bascuñana, Juan Garcia Caldentey, Marta Fatás Ventura, Guillermo García Ribas, Justo García de Yébenes, José Luis López-Sendón Moreno, Fernando Alonso Frech, Pedro J García Ruíz, Asunción Martínez-Descals, Rosa Guerrero, María José Saiz Artiga, Vicenta Sánchez, María Fuensanta Noguera Perea, Lorenza Fortuna, Salvadora Manzanares, Gema Reinante, María Martirio Antequera Torres, Laura Vivancos Moreau, Sonia González González, Luis Menéndez Guisasola, Carlos Salvador, Esther Suaréz San Martín, Inés Legarda Ramirez, Aranzazú Gorospe, Mónica Rodriguez Lopera, Penelope Navas Arques, María José Torres Rodríguez, Barbara Vives Pastor, Itziar Gaston, Maria Dolores Martinez-Jaurrieta, Jose Manuel Garcia Moreno, Carolina Mendez Lucena, Fatima Damas, Hermoso Eva Pacheco Cortegana, José Chacón Peña, Luis Redondo, Fátima Carrillo, María Teresa Cáceres, Pablo Mir, María José Lama Suarez, Laura Vargas-González, Maria E. Bosca, Francisco Castera Brugada, Juan Andres Burguera, Anabel Campos, Garcia Carmen Peiró Vilaplana, Peter Berglund, Radu Constantinescu, Gunnel Fredlund, Ulrika Høsterey-Ugander, Petra Linnsand, Liselotte Neleborn-Lingefjärd, Magnus Wentzel, Ghada Loutfi, Carina Olofsson, Eva-Lena Stattin, Laila Westman, Birgitta Wikström, Yanik Stebler, Alain Kaelin, Irene Romero, Michael Schüpbach, Sabine Weber Zaugg, Maria Hauer, Roman Gonzenbach, Hans H. Jung, Violeta Mihaylova, Jens Petersen, Roisin Jack, Kirsty Matheson, Zosia Miedzybrodzka, Daniela Rae, Sheila A Simpson, Fiona Summers, Alexandra Ure, Vivien Vaughan, Shahbana Akhtar, Jenny Crooks, Adrienne Curtis, Jenny de Souza, John Piedad, Hugh Rickards, Jan Wright, Elizabeth Coulthard, Louise Gethin, Beverley Hayward, Kasia Sieradzan, Matthew Armstrong, Roger A. Barker, Deidre O'Keefe, Anna Di Pietro, Kate Fisher, Anna Goodman, Susan Hill, Ann Kershaw, Sarah Mason, Nicole Paterson, Lucy Raymond, Rachel Swain, Natalie Valle Guzman, Monica Busse, Cynthia Butcher, Catherine Clenaghan, Sarah Hunt, Una Jones, Hanan Khalil, Michael Owen, Kathleen Price, Anne Rosser, Maureen Edwards, Carrie Ho, Teresa Hughes, Marie McGill, Pauline Pearson, Mary Porteous, Paul Smith, Peter Brockie, Jillian Foster, Nicola Johns, Sue McKenzie, Jean Rothery, Gareth Thomas, Shona Yates, Liz Burrows, Carol Chu, Amy Fletcher, Deena Gallantrae, Stephanie Hamer, Alison Harding, Stefan Klöppel, Alison Kraus, Fiona Laver, Monica Lewis, Mandy Longthorpe, Ivana Markova, Ashok Raman, Nicola Robertson, Mark Silva, Aileen Thomson, Sue Wild, Pam Yardumian, Carole Evans, Deena Gallentrae, Emma Hobson, Stuart Jamieson, Hannah Musgrave, Liz Rowett, Jean Toscano, Colin Bourne, Jackie Clapton, Carole Clayton, Heather Dipple, Dawn Freire-Patino, Janet Grant, Diana Gross, Caroline Hallam, Julia Middleton, Ann Murch, Catherine Thompson, Sundus Alusi, Rhys Davies, Kevin Foy, Emily Gerrans, Louise Pate, Thomasin Andrews, Andrew Dougherty, Charlotte Golding, Fred Kavalier, Hana Laing, Alison Lashwood, Dene Robertson, Deborah Ruddy, Alastair Santhouse, Anna Whaite, Stefania Bruno, Karen Doherty, Salman Haider, Davina Hensman, Nayana Lahiri, Marianne Novak, Aakta Patel, Elisabeth Rosser, Rachel Taylor, Thomas Warner, Edward Wild, Natalie Arran, Judith Bek, David Craufurd, Marianne Hare, Liz Howard, Susan Huson, Liz Johnson, Mary Jones, Helen Murphy, Emma Oughton, Lucy Partington-Jones, Dawn Rogers, Andrea Sollom, Julie Snowden, Cheryl Stopford, Jennifer Thompson, Iris Trender-Gerhard, Nichola Verstraelen, Leann Westmoreland, Richard Armstrong, Kathryn Dixon, Andrea H Nemeth, Gill Siuda, Ruth Valentine, David Harrison, Max Hughes, Andrew Parkinson, Beverley Soltysiak, Oliver Bandmann, Alyson Bradbury, Paul Gill, Helen Fairtlough, Kay Fillingham, Isabella Foustanos, Mbombe Kazoka, Kirsty O'Donovan, Cat Taylor, Katherine Tidswell, Oliver Quarrell, Puay Ngoh Lau, Emmanul Pica, Louis Tan

Publikováno v: The Lancet Neurology, 16(9), 701-711. Lancet Publishing Group
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The Lancet Neurology, 16(9), 701-711
The Lancet Neurology
The Lancet Neurology, Elsevier, 2017, 16, pp.701-711
Moss, D J H, Tabrizi, S J, Mead, S, Lo, K, Pardiñas, A F, Holmans, P, Jones, L, Langbehn, D, Leavitt, B R, Roos, R, Durr, A, Durr, A, TRACK-HD investigators & REGISTRY investigators† 2017, ' Identification of genetic variants associated with Huntington's disease progression : a genome-wide association study ', The Lancet Neurology, vol. 16, no. 9, pp. 701-711 . https://doi.org/10.1016/S1474-4422(17)30161-8
The Lancet Neurology, 2017, 16 (9), pp.701-711. ⟨10.1016/S1474-4422(17)30161-8⟩

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not alwa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::649d80c652ead3234e77420ec26ef647
https://doi.org/10.1016/s1474-4422(17)30161-8

Trends in congenital anomalies in Europe from 1980 to 2012

Autor: Jorieke E. H. Bergman, Ruth Greenlees, David Tucker, Miriam Gatt, Catherine Lynch, Christine Verellen-Dumoulin, Melinda Csáky-Szunyogh, Maria Loane, Ingeborg Barišić, Marie-Claude Addor, Elizabeth S Draper, Diana Wellesley, Helen Dolk, Larraitz Arriola, Kari Klungsøyr, Anke Rissmann, Anna Pierini, Jennifer J Kurinczuk, Joan K. Morris, Vera Nelen, Babak Khoshnood, Amanda J. Neville, Mary O'Mahony, Judith Rankin, Hanitra Randrianaivo, Carlos Matias Dias, Annette Queisser-Luft, R. McDonnell, Ester Garne, Anna Springett

Publikováno v: PLoS ONE
Morris, J K, Springett, A L, Greenlees, R, Loane, M, Addor, M C, Arriola, L, Barisic, I, Bergman, J E H, Csaky-Szunyogh, M, Dias, C, Draper, E S, Garne, E, Gatt, M, Khoshnood, B, Klungsoyr, K, Lynch, C, McDonnell, R, Nelen, V, Neville, A J, O'Mahony, M, Pierini, A, Queisser-Luft, A, Randrianaivo, H, Rankin, J, Rissmann, A, Kurinczuk, J, Tucker, D, Verellen-Dumoulin, C, Wellesley, D & Dolk, H 2018, ' Trends in congenital anomalies in Europe from 1980 to 2012 ', PLOS ONE, vol. 13, no. 4, e0194986 . https://doi.org/10.1371/journal.pone.0194986
13:e019
PLoS ONE, 13(4):0194986. PUBLIC LIBRARY SCIENCE
PloS one, vol. 13, no. 4, pp. e0194986
PLoS ONE, Vol 13, Iss 4, p e0194986 (2018)

Background Surveillance of congenital anomalies is important to identify potential teratogens. Methods This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980–201

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::060abaf83e42c822303c5e60fa4bd528
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