Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Newell, Belnap"'
Autor:
Lydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew GL Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, Vincent Th Ramaekers, Sarah M Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohacs, Diana Rodriguez, David Dyment, Thomas Voets, Joris Vriens
Publikováno v:
eLife, Vol 12 (2023)
TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de novo variants in TRPM3 were identified in individuals with developmental and epileptic ence
Externí odkaz:
https://doaj.org/article/40dfdc180e96470192bccc762e052743
Autor:
Eric Frankel, Avijit Podder, Megan Sharifi, Roshan Pillai, Newell Belnap, Keri Ramsey, Julius Dodson, Pooja Venugopal, Molly Brzezinski, Lorida Llaci, Brittany Gerald, Gabrielle Mills, Meredith Sanchez-Castillo, Chris D. Balak, Szabolcs Szelinger, Wayne M. Jepsen, Ashley L. Siniard, Ryan Richholt, Marcus Naymik, Isabelle Schrauwen, David W. Craig, Ignazio S. Piras, Matthew J. Huentelman, Nicholas J. Schork, Vinodh Narayanan, Sampathkumar Rangasamy
Publikováno v:
Cells, Vol 12, Iss 10, p 1437 (2023)
Mutations of the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2) cause classical forms of Rett syndrome (RTT) in girls. A subset of patients who are recognized to have an overlapping neurological phenotype with RTT but are lacking a mutat
Externí odkaz:
https://doaj.org/article/20acec46706042719162109c33744bd6
Autor:
Keri Ramsey, Newell Belnap, Anna Bonfitto, Wayne Jepsen, Marcus Naymik, Meredith Sanchez‐Castillo, David W. Craig, Szabolcs Szelinger, Matthew J. Huentelman, Vinodh Narayanan, Sampath Rangasamy
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 2, Pp n/a-n/a (2022)
Externí odkaz:
https://doaj.org/article/e6b7818630924806a65e2e80cd8dda6c
Autor:
F. Graeme Frost, Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame, Yuri Uchiyama, Naomichi Matsumoto, Machteld M. Oud, Elise A. Ferreira, Vinodh Narayanan, Sampath Rangasamy, Matt Huentelman, Lisa T. Emrick, Ikuko Sato-Shirai, Satoko Kumada, Nicole I. Wolf, Peter J. Steinbach, Yan Huang, Barbara N. Pusey, Sandrine Passemard, Jonathan Levy, Séverine Drunat, Marie Vincent, Agnès Guet, Emanuele Agolini, Antonio Novelli, Maria Cristina Digilio, Jill A. Rosenfeld, Jennifer L. Murphy, James R. Lupski, Gilbert Vezina, Ellen F. Macnamara, David R. Adams, Maria T. Acosta, Cynthia J. Tifft, William A. Gahl, May Christine V. Malicdan
Publikováno v:
Undiagnosed Diseases Network 2023, ' Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis ', American journal of human genetics, vol. 110, no. 4, pp. 663-680 . https://doi.org/10.1016/j.ajhg.2023.03.001
American Journal of Human Genetics, 110, 4, pp. 663-680
American Journal of Human Genetics, 110, 663-680
American Journal of Human Genetics, 110, 4, pp. 663-680
American Journal of Human Genetics, 110, 663-680
Item does not contain fulltext The vast majority of human genes encode multiple isoforms through alternative splicing, and the temporal and spatial regulation of those isoforms is critical for organismal development and function. The spliceosome, whi
Autor:
Evelien Van Hoeymissen, Lydie Burglen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew GL Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, Vincent Th Ramaekers, Sarah M Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohacs, Diana Rodriguez, David Dyment, Thomas Voets, Joris Vriens
Publikováno v:
eLife. 12
TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de novo variants in TRPM3 were identified in individuals with developmental and epileptic ence
Autor:
Evelien Van Hoeymissen, Lydie Burglen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew GL Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, Vincent Th Ramaekers, Sarah M Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohacs, Diana Rodriguez, David Dyment, Thomas Voets, Joris Vriens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51a93e755ca5d72fe220f290e73c236e
https://doi.org/10.7554/elife.81032.sa2
https://doi.org/10.7554/elife.81032.sa2
Autor:
Newell Belnap, Bert B.A. de Vries, Austin Larson, Rolph Pfundt, Marijke R. Wevers, Valérie Benoit, Markus Zweier, Pascal Joset, Anita Rauch, Angela Bahr, Jeroen Mourmans, Patricia G Wheeler, Or Gozani, Marisa V. Andrews, Monica H. Wojcik, Didier Lacombe, Sarah Grotto, Marwan Shinawi, Lot Snijders Blok, Conny M. A. van Ravenswaaij-Arts, Keri Ramsey, Deepanwita Sengupta, Mariarosaria Lang-Muritano, Isabelle Maystadt, Katharina Steindl, Paolo Zanoni, Antonio Vitobello, Geoffroy Delplancq, Katrin Õunap, Tania Attié-Bitach, Heinrich Sticht, Giulia Petrilli, Laurence Faivre, Vassilis Tsatsaris
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 23 (8)
Genetics in Medicine, 23(8), 1474-1483. Nature Publishing Group
Genetics in Medicine, 23, 1474-1483
Genetics in Medicine, 23, 8, pp. 1474-1483
Genetics in Medicine, 23 (8)
Genetics in Medicine, 23(8), 1474-1483. Nature Publishing Group
Genetics in Medicine, 23, 1474-1483
Genetics in Medicine, 23, 8, pp. 1474-1483
Purpose Despite a few recent reports of patients harboring truncating variants in NSD2, a gene considered critical for the Wolf–Hirschhorn syndrome (WHS) phenotype, the clinical spectrum associated with NSD2 pathogenic variants remains poorly under
Autor:
Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L. Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M. Claasen, Sampathkumar Rangasamy, Matthew J. Huentelman, David W. Craig, Philippe M. Campeau, Vinodh Narayanan, Isabelle Schrauwen
Publikováno v:
F1000Research, Vol 6 (2017)
Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss. In this report, we describ
Externí odkaz:
https://doaj.org/article/3c3a49b6d93e4c97a0f99e2dd4136961
Autor:
Christopher Balak, Newell Belnap, Matthew J. Huentelman, Brianna Pandey, James Plotnik, Keri Ramsey, Vinodh Narayanan
Publikováno v:
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 25(6)
Cerebellar-facial-dental syndrome (CFDS) is a newly described autosomal recessive genetic disorder characterized by mutations in the BRF1 gene. CFDS is clinically associated with dysmorphic facial features and cerebellar hypoplasia. We report visuall
Autor:
J. Dodson, Ignazio S. Piras, D. W. Craig, Newell Belnap, G. Mills, Ana M. Claasen, Marcus Naymik, Lorida Llaci, Vinodh Narayanan, B. Gerald, Meredith Sanchez-Castillo, P. Venugopal, Chris Balak, Szabolcs Szelinger, Ryan Richholt, Sampath Rangasamy, Raj Gupta, Isabelle Schrauwen, Ashley L. Siniard, M. Brzezinski, Keri Ramsey, Wayne M. Jepsen, M. D. De Both, R. Pillai, E. S. Frankel, M. J. Huentelman, M. Sharifi
Mutations of the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2) cause classical forms of Rett syndrome (RTT) in girls. Patients with features of classical Rett syndrome, but do not fulfill all the diagnostic criteria (e.g. absence of a M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07a1c3d78777e2f8e300218f6b5c913b