Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Willie Reardon"'
Autor:
Najim Ameziane, Dan Diego-Alvarez, Wafaa Eyaid, Nouriya Al-Sannaa, Catarina Pereira, Ahmed Alfares, Aida M. Bertoli-Avella, Jozef Hertecant, Pilar Guatibonza, Abdulrahman Alswaid, Susan Zielske, Arndt Rolfs, María Calvo, Marius-Ionuț Iurașcu, Aisha M. Al-Shamsi, Yasemin Alanay, Florian Vogel, Christian Beetz, Peter Bauer, Krishna Kumar Kandaswamy, Monica Segura-Castel, Amal Alhashem, Kapil Kampe, Maria Eugenia Rocha, Willie Reardon, Majid Alfadhel, Dimitar Ugrinovski, Michal Zawada, Gitte Warnack, Mohammed AlBalwi, Martin Werber, Claudia Cozma, Omid Paknia, Fuad Al Mutairi, Natalia Herrera-Ordonez
Publikováno v:
European Journal of Human Genetics
Despite clear technical superiority of genome sequencing (GS) over other diagnostic methods such as exome sequencing (ES), few studies are available regarding the advantages of its clinical application. We analyzed 1007 consecutive index cases for wh
Autor:
Antonio Novelli, Anthony Vandersteen, Paola Grammatico, Erina Sasaki, Fransiska Malfait, Maja Di Rocco, Cecilia Giunta, Nicoletta Zoppi, Silvia Morlino, Dario Cocciadiferro, Alessandro Ferraris, Tommaso Mazza, Annalisa Madeo, Marianne Rohrbach, Emanuele Agolini, Marco Ritelli, Marina Colombi, Lucia Micale, Alan Hakim, Marco Castori, Willie Reardon, Sara Mackay
Publikováno v:
Clinical Genetics. 97:396-406
The 2017 classification of Ehlers-Danlos syndromes (EDS) identifies three types associated with causative variants in COL1A1/COL1A2 and distinct from osteogenesis imperfecta (OI). Previously, patients have been described with variable features of bot
Autor:
Tainá Regina Damaceno Silveira, Aida M. Bertoli-Avella, Arndt Rolfs, Daíse Moreno Sás, Willie Reardon, Peter Bauer, Charles Marques Lourenço, Maria Eugenia Rocha, Erina Sasaki, Christian Beetz, Krishna Kumar Kandaswamy
Publikováno v:
European Journal of Human Genetics
Intellectual disability (ID) is one of most frequent reasons for genetic consultation. The complex molecular anatomy of ID ranges from complete chromosomal imbalances to single nucleotide variant changes occurring de novo, with thousands of genes ide
Autor:
Ataf Sabir, Louise McClelland, Melissa Connolly, Jessica A. Radley, Farah Kanani, Zerin Hyder, Helena Carley, Lianne Gompertz, Willie Reardon, Rachel L Jones, Ruth Richardson, Eamonn R. Maher
Publikováno v:
Clinical geneticsREFERENCES. 100(3)
The congenital imprinting disorder, Beckwith-Wiedemann syndrome (BWS) is associated with variable clinical features including hemihypertrophy/lateralised overgrowth (LO) and embryonal tumour predisposition. BWS-associated (epi)genetic alterations occ
Autor:
Jessica A. Radley, Eamonn R. Maher, Ataf Sabir, Rachel Jones, Louise McClelland, Melissa Connolly, Farah Kanani, Ruth Richardson, Zerin Hyder, Lianne Gompertz, Helena Carley, Willie Reardon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b2e6faef1b1781c3d25e4d32ed708aa
https://doi.org/10.1111/cge.13997/v4/response1
https://doi.org/10.1111/cge.13997/v4/response1
Autor:
Charu Deshpande, Joke B. G. M. Verheij, H Van Bokhoven, Siddharth Banka, J. S. Klein Wassink-Ruiter, Elizabeth J. Bhoj, S. C. Huffels, R. Pfundt, Ernie M.H.F. Bongers, Anne Gregor, A.P.M. de Brouwer, André Reis, Christiane Zweier, Hakon Hakonarson, Nicola K. Ragge, L. Gompertz, Dong Li, Sanmati Cuddapah, Alexander P.A. Stegmann, Sally Ann Lynch, A.T. Vulto-van Silfhout, Willie Reardon, Gyri Aasland Gradek, Daniel L. Polla, Kate Chandler, C. T. R. M. Stumpel, B. B. A. de Vries, R. Wennekes, Elaine H. Zackai, Siren Berland, Erika Leenders, K. Hill-Karfe
Publikováno v:
Genetics in Medicine, 23, 4, pp. 645-652
Polla, DL, Bhoj, EJ, Verheij, JBGM, Wassink-Ruiter, JSK, Reis, A, Deshpande, C, Gregor, A, Hill-Karfe, K, Silfhout, ATV, Pfundt, R, Bongers, EMHF, Hakonarson, H & de, B APM 2020, ' De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01040-6
Genetics in Medicine, 23(4), 645-652. Nature Publishing Group
Genetics in Medicine, 23, 645-652
Polla, DL, Bhoj, EJ, Verheij, JBGM, Wassink-Ruiter, JSK, Reis, A, Deshpande, C, Gregor, A, Hill-Karfe, K, Silfhout, ATV, Pfundt, R, Bongers, EMHF, Hakonarson, H & de, B APM 2020, ' De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01040-6
Genetics in Medicine, 23(4), 645-652. Nature Publishing Group
Genetics in Medicine, 23, 645-652
Contains fulltext : 234992.pdf (Publisher’s version ) (Closed access) PURPOSE: MED12 is a subunit of the Mediator multiprotein complex with a central role in RNA polymerase II transcription and regulation of cell growth, development, and differenti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3096973d0dab91ba75f31747c1525309
https://repository.ubn.ru.nl/handle/2066/234992
https://repository.ubn.ru.nl/handle/2066/234992
Autor:
Nicoletta Zoppi, Lucia Micale, Sara Mackay, Marco Ritelli, Alessandro Ferraris, Tommaso Mazza, Dario Cocciadiferro, Emanuele Agolini, Marco Castori, Maja Di Rocco, Annalisa Madeo, Antonio Novelli, Anthony Vandersteen, Cecilia Giunta, Silvia Morlino, Marianne Rohrbach, Paola Grammatico, Willie Reardon, Alan Hakim, Marina Colombi, Fransiska Malfait, Erina Sasaki
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2e93d2e0d3af16004d8caadb706e1f0
https://doi.org/10.1111/cge.13683/v3/response1
https://doi.org/10.1111/cge.13683/v3/response1
Autor:
Sophie Rondeau, Charles Coutton, Pierre-Simon Jouk, Lydie Burglen, Alice Goldenberg, Bérénice Doray, Nathalie Marle, Séverine Drunat, Pascal Chambon, P. Callier, Thierry Bienvenu, F. Devillard, M.-L. Moutard, Danielle Martinet, Bernard Aral, Pascale Saugier-Veber, Nathalie Perreton, Marie-Claude Addor, Marguerite Miguet, Martine Doco-Fenzy, N. Le Meur, Anne-Marie Guerrot, J.-L. Alessandri, C. Thauvin-Robinet, R. Touraine, Anne-Claude Tabet, Anne-Laure Mosca-Boidron, S. El Chehadeh, D. Devys, Sébastien Lebon, Alexandra Afenjar, Sandra Chantot-Bastaraud, Laurence Faivre, Emilie Landais, Cathy Philippe, Klaus Dieterich, Valérie Kremer, Julien Thevenon, Véronique Satre, V. des Portes, Francine Mugneret, Willie Reardon, Fabienne Prieur
Publikováno v:
Clinical Genetics. 91:576-588
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an
Publikováno v:
Abstracts.
Introduction Dejerine-Sottas syndrome (DSS) is a rare hereditary motor-sensor neuropathy transmitted as either autosomal dominant or recessive and classified as a severe degenerative neuropathy of the Charcot-Marie-Tooth type. DSS is characterized by
Autor:
Coranne D. Tesselaar, Usha Kini, Vandana Shashi, Willie Reardon, H. T. Marc Timmers, Donna M. Martin, Jenny C. Taylor, Dong Li, Elizabeth M. McCormick, Alice Goldenberg, Marketa Havlovicova, Peter M. van Hasselt, Harmjan R. Vos, Maria J.E. Koster, Daphné Lehalle, Sophie Patrier, Elena Lopez, Rolph Pfundt, Richard F.M.A. van Schaik, Koen L.I. van Gassen, Gerarda Cappuccio, Julien Thevenon, Clesson Turner, Ingrid M.B.H. van de Laar, Marni J. Falk, Marketa Vlckova, Vassilis Ragoussis, Robert M. van Es, Nicola Brunetti-Pierri, Michele Pinelli, Alistair T. Pagnamenta, Christina Fagerberg, Darina Prchalova, Slavé Petrovski, Anna Lehman, Hakon Hakonarson, Ton van Essen, Maria Kibaek, Hanneke A. Haijes, G. Bradley Schaefer, Miroslava Hancarova, Jennifer A. Sullivan, Sedlácek Z, Holger Rehmann
Publikováno v:
American Journal of Human Genetics, 105, 283-301
American Journal of Human Genetics, 105, 2, pp. 283-301
American Journal of Human Genetics, 105(2), 283-301. Cell Press
American Journal of Human Genetics, 105(2), 283. Cell Press
Haijes, H A, Koster, M J E, Rehmann, H, Li, D, Hakonarson, H, Cappuccio, G, Hancarova, M, Lehalle, D, Reardon, W, Schaefer, G B, Lehman, A, van de Laar, I M B H, Tesselaar, C D, Turner, C, Goldenberg, A, Patrier, S, Thevenon, J, Pinelli, M, Brunetti-Pierri, N, Prchalová, D, Havlovicová, M, Vlckova, M, Sedláček, Z, Lopez, E, Ragoussis, V, Pagnamenta, A T, Kini, U, Vos, H R, van Es, R M, van Schaik, R F M A, van Essen, T A J, Kibaek, M, Taylor, J C, Sullivan, J, Shashi, V, Petrovski, S, Fagerberg, C, Martin, D M, van Gassen, K L I, Pfundt, R, Falk, M J, McCormick, E M, Timmers, H T M & van Hasselt, P M 2019, ' De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia ', American Journal of Human Genetics, vol. 105, no. 2, pp. 283-301 . https://doi.org/10.1016/j.ajhg.2019.06.016
American Journal of Human Genetics, 105(2), 283-301. CELL PRESS
American Journal of Human Genetics, 105, 2, pp. 283-301
American Journal of Human Genetics, 105(2), 283-301. Cell Press
American Journal of Human Genetics, 105(2), 283. Cell Press
Haijes, H A, Koster, M J E, Rehmann, H, Li, D, Hakonarson, H, Cappuccio, G, Hancarova, M, Lehalle, D, Reardon, W, Schaefer, G B, Lehman, A, van de Laar, I M B H, Tesselaar, C D, Turner, C, Goldenberg, A, Patrier, S, Thevenon, J, Pinelli, M, Brunetti-Pierri, N, Prchalová, D, Havlovicová, M, Vlckova, M, Sedláček, Z, Lopez, E, Ragoussis, V, Pagnamenta, A T, Kini, U, Vos, H R, van Es, R M, van Schaik, R F M A, van Essen, T A J, Kibaek, M, Taylor, J C, Sullivan, J, Shashi, V, Petrovski, S, Fagerberg, C, Martin, D M, van Gassen, K L I, Pfundt, R, Falk, M J, McCormick, E M, Timmers, H T M & van Hasselt, P M 2019, ' De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia ', American Journal of Human Genetics, vol. 105, no. 2, pp. 283-301 . https://doi.org/10.1016/j.ajhg.2019.06.016
American Journal of Human Genetics, 105(2), 283-301. CELL PRESS
The RNA polymerase II complex (pol II) is responsible for transcription of all similar to 21,000 human protein-encoding genes. Here, we describe sixteen individuals harboring de novo heterozygous variants in POLR2A, encoding RPB1, the largest subunit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0f4cd55fa3c8a36c6f53d61e8bd024f
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/206057
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/206057