Zobrazeno 1 - 10 of 16 pro vyhledávání: '"Laura Castilla Vallmanya"'
1
Akademický článek
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
Autor: Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez, Susanna Balcells
Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)
Abstract Background Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by intellectual disability of variable severity and speech delay, hypoton
Externí odkaz: https://doaj.org/article/92ae34d47439495b8fb61f31cc49ae89
Zobrazit plný text záznamu
2
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2
Autor: Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, Héctor Franco-Valls, Raúl Martínez-Cabrera, Aina Prat-Planas, Elena Rojano, Juan A G Ranea, Pedro Seoane, Clara Oliva, Abraham J Paredes-Fuentes, Gemma Marfany, Rafael Artuch, Daniel Grinberg, Raquel Rabionet, Susanna Balcells, Roser Urreizti
Publikováno v: Journal of Medical Genetics. 60:406-415
BackgroundSchaaf-Yang syndrome (SYS) is caused by truncating mutations inMAGEL2, mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of Prader-Willi syndrome. MAGEL2 plays a role in retrograde transpo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e24d5e784d6c07edc91aacacec732b52
https://doi.org/10.1136/jmg-2022-108690
Zobrazit plný text záznamu
3
Akademický článek
Understanding the Pathophysiology and Searching for Biomarkers for Rare Genetic Developmental Diseases
Autor: Laura Castilla-Vallmanya, Roser Urreizti, Héctor Franco, Jeanne Amiel, Tiong Y. Tan, Luitgard Graul Neumann, Christopher T. Gordon, Daniel Grinberg
Publikováno v: Proceedings, Vol 22, Iss 1, p 53 (2019)
Opitz C syndrome (OCS, MIM #211750) is an extremely rare genetic disorder characterized bymultiple malformations (e.g., trigonocephaly, congenital heart defects) and variable intellectual andpsychomotor delay. [...]
Externí odkaz: https://doaj.org/article/a338bb14dd0040f7ab581fc85cf6722f
Zobrazit plný text záznamu
4
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Autor: Robert A. Hegele, Maria Iascone, Kevin A. Shapiro, Nicolas Chatron, Marwan Shinawi, Joel Charrow, Jeffrey W. Innis, Luitgard Graul-Neumann, Joanna Goes Castro Meira, Anna Lehman, Dawn L. Earl, Victoria R. Sanders, Shannon Rego, David A. Sweetser, Clémantine Dimartino, Wilhelmina S. Kerstjens-Frederikse, Antonio Vitobello, Davor Lessel, Daniel Grinberg, Laurence Faivre, Ryan Peretz, Katherine M. Christensen, Emma Reesor, Erin Beaver, Elizabeth Wohler, Margot R.F. Reijnders, Deborah Barbouth, Anna Cereda, Kaja Kristine Selmer, Melissa A. Walker, Barbro Stadheim, Alessandro Serretti, Helen Kingston, Jill Clayton-Smith, Raymond Lewandowski, Bernarda Lozić, Robert Stratton, Amelia Kirby, Anne H. O’Donnell-Luria, Sara Gabbiadini, Susanna Balcells, Myriam Oufadem, Christel Thauvin, Maha Aly, Wendy K. Chung, Susan M. White, Lauren C. Briere, Thomas Smol, Stanislas Lyonnet, Roberto Colombo, Catherine E. Keegan, Marie T. McDonald, Melanie Parisot, Tiong Yang Tan, Brian Wong, Christopher T. Gordon, Magnus Dehli Vigeland, Frances A. High, Emily Bryant, Audrey Labalme, Nara Sobreira, Arnold Munnich, Jeanne Amiel, Dayna Morel Swols, Raquel Rabionet, Laura Castilla-Vallmanya, Jennifer Heeley, Gunnar Houge, Michael J. Gambello, Bernardo Blanco-Sánchez, Lynn Pais, Olena M. Vaske, Roser Urreizti, Alison Wray, Veronique Pingault, Damien Sanlaville, John Christodoulou, John Millichap, Valérie Cormier-Daire, Parul Jayakar, Helen Cox, Frédéric Tran Mau-Them, Belinda Chong, Victoria Mok Siu, Anne Slavotinek, Antonie J. van Essen, Ingvild Aukrust, Lorne A. Clarke, Rachel Gannaway, Anne Dieux-Coeslier, Patrick Nitschké, Tony Yao, Simon Sadedin, Danielle Karlowicz, Christelle Rougeot, Christine Bole-Feysot, Sandra Yang, Megan T. Cho, Gaetan Lesca, Christiane Zweier
Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Genetics in Medicine, 22(7), 1215-1226. Nature Publishing Group
Genet Med
PURPOSE: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ecbcc89382dda63f833e0863a3f1a46
https://cris.maastrichtuniversity.nl/en/publications/219e6f2d-7e00-41f9-b48c-41e6857f0ee8
Zobrazit plný text záznamu
6
Detecting and targeting senescent cells using molecularly imprinted nanoparticles
Autor: Michael E. Kelly, Marta Poblocka, Elena V. Piletska, Sergey A. Piletsky, Mohammad Althubiti, Gabriella Kocsis-Fodor, Akang E. Ekpenyong-Akiba, Justyna Janus, Francesco Canfarotta, Laura Castilla-Vallmanya, Salvador Macip, H Bashar Abd, Mireia Casulleras
Publikováno v: Nanoscale Horizons. 4:757-768
The progressive accumulation of senescent cells in tissues in response to damage importantly contributes to pathophysiological conditions such as fibrosis, diabetes, cancer, Alzheimer's and ageing. Consistent with this, eliminating senescent cells pr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::febbcc29647e01f4a120895eaa244825
https://doi.org/10.1039/c8nh00473k
Zobrazit plný text záznamu
7
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family
Autor: Raquel Rabionet, Roser Urreizti, Aina Prat-Planas, Özlem Giray-Bozkaya, Gemma Bullich, Laura Castilla-Vallmanya, Mónica Centeno-Pla, Leslie Matalonga, Daniel Grinberg, Semra Gürsoy, Susanna Balcells
Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 1549, p 1549 (2021)
Dipòsit Digital de la UB
Universidad de Barcelona
International Journal of Molecular Sciences
We present a Turkish family with two cousins (OC15 and OC15b) affected with syndromic developmental delay, microcephaly, and trigonocephaly but with some phenotypic traits distinct between them. OC15 showed asymmetrical skeletal defects and syndactyl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::525d3da46b13c1469116bdc61832a2bc
https://www.mdpi.com/1422-0067/22/4/1549
Zobrazit plný text záznamu
8
Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development
Autor: Canals, Noelia Benetó, Monica Cozar, Laura Castilla-Vallmanya, Oskar G. Zetterdahl, Madalina Sacultanu, Eulalia Segur-Bailach, María García-Morant, Antonia Ribes, Henrik Ahlenius, Daniel Grinberg, Lluïsa Vilageliu, Isaac
Publikováno v: Journal of Clinical Medicine; Volume 9; Issue 3; Pages: 644
Sanfilippo syndrome type C (mucopolysaccharidosis IIIC) is an early-onset neurodegenerative lysosomal storage disorder, which is currently untreatable. The vast majority of studies focusing on disease mechanisms of Sanfilippo syndrome were performed
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=multidiscipl::612bd0617d2f4cc750ee58421f82e175
Zobrazit plný text záznamu
9
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
Autor: Javier Alonso, Daniel Natera-de Benito, Purificación Marin-Reina, Daniel Grinberg, Eva Bermejo-Sánchez, Montse Pujadas, Susanna Balcells, Mercedes Serrano, Roser Urreizti, Laura Castilla-Vallmanya, Beatriz Martinez-Delgado, Luis A. Pérez-Jurado, Manuel Posada-de-la-Paz, Antonio Martinez-Monseny, Estrella Lopez-Martin, Mar O'Callaghan
Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)
Repisalud
Instituto de Salud Carlos III (ISCIII)
BACKGROUND: Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by intellectual disability of variable severity and speech delay, hypotonia, and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ec92627090f08823ec3b0c00931b5d8
http://hdl.handle.net/2445/168101
Zobrazit plný text záznamu
10
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies
Autor: Roser Urreizti, Laura Castilla-Vallmanya, Daniel Grinberg, Jullianne Diaz, Eyby Leon, Susanna Balcells
Publikováno v: American journal of medical genetics. Part AREFERENCES. 182(1)
Bohring-Opitz syndrome (BOS) has been described as a clinically recognizable genetic syndrome since 1999. Clinical diagnostic criteria were established in 2011 and include microcephaly, trigonocephaly, distinctive craniofacial dysmorphic features, fa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69f9193b22f4f576d5d7a36ffb45c807
https://pubmed.ncbi.nlm.nih.gov/31692235
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje