Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

Autor: Monica H. Wojcik, Siddharth Srivastava, Pankaj B. Agrawal, Tugce B. Balci, Bert Callewaert, Pier Luigi Calvo, Diana Carli, Michelle Caudle, Samantha Colaiacovo, Laura Cross, Kalliope Demetriou, Katy Drazba, Marina Dutra‐Clarke, Matthew Edwards, Casie A. Genetti, Dorothy K. Grange, Scott E. Hickey, Bertrand Isidor, Sébastien Küry, Herbert M. Lachman, Alinoe Lavillaureix, Michael J. Lyons, Carlo Marcelis, Elysa J. Marco, Julian A. Martinez‐Agosto, Catherine Nowak, Antonio Pizzol, Marc Planes, Eloise J. Prijoles, Evelise Riberi, Eric T. Rush, Bianca E. Russell, Rani Sachdev, Betsy Schmalz, Deborah Shears, David A. Stevenson, Kate Wilson, Sandra Jansen, Bert B. A. de Vries, Cynthia J. Curry

Publikováno v: American Journal of Medical Genetics. Part A, 191, 7, pp. 1900-1910
American Journal of Medical Genetics. Part A, 191, 1900-1910

Item does not contain fulltext Jansen-de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum and natural history remain to be defined, we describe a larg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40bb4c52a60276aeb742e8035b132210
https://repository.ubn.ru.nl/handle/2066/293471

Association between breakfast frequency and physical activity and sedentary time: a cross-sectional study in children from 12 countries

Autor: K Zakrzewski-Fruer 1, Julia, B Gillison 2, Fiona, T Katzmarzyk 3, Peter, F Mire 3, Emily, T Broyles 3, Stephanie, M Champagne 3, Catherine, Jean-Philippe Chaput, 4, D Denstel 3, Kara, Mikael Fogelholm, 5, Gang Hu, 3, V Lambert 6, Estelle, Carol Maher, 7, José Maia, 8, Tim Olds, 7, Vincent Onywera, 9, Olga, L Sarmiento 10, S Tremblay 4, Mark, Catrine Tudor-Locke, 3 11, Martyn Standage 12, ISCOLE Research Group: Peter, T Katzmarzyk, Denise, G Lambert, Tiago, Barreira, Stephanie, Broyles, Ben, Butitta, Catherine, Champagne, Shannon, Cocreham, Kara, Denstel, Katy, Drazba, Deirdre, Harrington, William, Johnson, Dione, Milauskas, Emily, Mire, Allison, Tohme, Ruben, Rodarte, Bobby, Amoroso, John, Luopa, Rebecca, Neiberg, Scott, Rushing, Timothy, Olds, Carol, Maher, Lucy, Lewis, Katia, Ferrar, Effie, Georgiadis, Rebecca, Stanley, Victor Keihan Rodrigues Matsudo, Sandra, Matsudo, Timoteo, Araujo, Luis Carlos de Oliveira, Leandro, Rezende, Luis, Fabiano, Diogo, Bezerra, Gerson, Ferrari, Mark, S Tremblay, Jean-Philippe, Chaput, Priscilla, Bélanger, Mike, Borghese, Charles, Boyer, Allana, Leblanc, Claire, Francis, Geneviève, Leduc, Pei Zhao Gang Hu, Chengming, Diao, Wei, Li, Weiqin, Li, Enqing, Liu, Gongshu, Liu, Hongyan, Liu, Jian, Ma, Yijuan, Qiao, Huiguang, Tian, Yue, Wang, Tao, Zhang, Fuxia, Zhang, Olga, Sarmiento, Julio, Acosta, Yalta, Alvira, Maria Paula Diaz, Rocio, Gamez, Maria Paula Garcia, Luis Guillermo Gómez, Lisseth, Gonzalez, Silvia, Gonzalez, Carlos, Grijalba, Leidys, Gutierrez, David, Leal, Nicolas, Lemus, Etelvina, Mahecha, Maria Paula Mahecha, Rosalba, Mahecha, Andrea, Ramirez, Paola, Rios, Andres, Suarez, Camilo, Triana, Mikael, Fogelholm, Elli, Hovi, Jemina, Kivelä, Sari, Räsänen, Sanna, Roito, Taru, Saloheimo, Leena, Valta, Anura, Kurpad, Rebecca, Kuriyan, Deepa, P Lokesh, Michelle Stephanie D'Almeida, R Annie Mattilda, Lygia, Correa, Vijay, D, Vincent, Onywera, Lucy-Joy, Wachira, Stella, Muthuri, Jose, Maia, Alessandra da Silva Borges, Sofia Oliveira Sá Cachada, Raquel Nichele de Chaves, Thayse Natacha Queiroz Ferreira Gomes, Sara Isabel Sampaio Pereira, Daniel Monteiro de Vilhena, E Santos, Fernanda Karina Dos Santos, Pedro Gil Rodrigues da Silva, Michele Caroline de Souza, Vicki, Lambert, Matthew, April, Monika, Uys, Nirmala, Naidoo, Nandi, Synyanya, Madelaine, Carstens, Martyn, Standage, Sean, Cumming, Clemens, Drenowatz, Lydia, Emm, Fiona, Gillison, Julia, Zakrzewski, Catrine, Tudor-Locke, Ashley, Braud, Sheletta, Donatto, Corbin, Lemon, Ana, Jackson, Ashunti, Pearson, Gina, Pennington, Daniel, Ragus, Ryan, Roubion, John Schuna Jr, Derek, Wiltz, Alan, Batterham, Jacqueline, Kerr, Michael, Pratt, Pietrobelli, Angelo

Publikováno v: Zakrzewski-Fruer, J K, Gillison, F B, Katzmarzyk, P T, Mire, E F, Broyles, S T, Champagne, C M, Chaput, J-P, Denstel, K D, Fogelholm, M, Hu, G, Lambert, E V, Maher, C, Maia, J, Olds, T, Onywera, V, Sarmiento, O L, Tremblay, M S, Tudor-Locke, C & Standage, M 2019, ' Association between breakfast frequency and physical activity and sedentary time: a cross-sectional study in children from 12 countries ', BMC Public Health, vol. 19, no. 1, 222 . https://doi.org/10.1186/s12889-019-6542-6
BMC Public Health
BMC Public Health, Vol 19, Iss 1, Pp 1-11 (2019)

Background Existing research has documented inconsistent findings for the associations among breakfast frequency, physical activity (PA), and sedentary time in children. The primary aim of this study was to examine the associations among breakfast fr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e152b1ec2c7adf04fa0f75a6216d8185
https://doi.org/10.1186/s12889-019-6542-6