Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Emma Ashton"'
Autor:
Thomas Parzefall, Alexandra Frohne, Martin Koenighofer, Juergen Neesen, Franco Laccone, Julia Eckl-Dorna, Jonathan J. Waters, Markus Schreiner, Sami Samir Amr, Emma Ashton, Christian Schoefer, Wolfgang Gstœttner, Klemens Frei, Trevor Lucas
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 14 (2020)
Background: Hereditary hearing loss is a disorder with high genetic and allelic heterogeneity. Diagnostic screening of candidate genes commonly yields novel variants of unknown clinical significance. TBC1D24 is a pleiotropic gene associated with rece
Externí odkaz:
https://doaj.org/article/16015d4b45144763b1c1e2ac0e3f6326
Publikováno v:
Ecology and Society, Vol 26, Iss 3, p 16 (2021)
To achieve the United Nations Sustainable Development Goals (SDGs), actions are required at all global, national, and local scales. To ensure coordination between scales, local actions need to be carefully planned to be aligned with global and nation
Externí odkaz:
https://doaj.org/article/3d1d1fc411ec44aaa3fea30139948b26
Autor:
Daniela Iancu, Emma Ashton
Publikováno v:
Genes, Vol 11, Iss 3, p 277 (2020)
Electrolyte homeostasis is maintained by the kidney through a complex transport function mostly performed by specialized proteins distributed along the renal tubules. Pathogenic variants in the genes encoding these proteins impair this function and h
Externí odkaz:
https://doaj.org/article/77f79f13a8454362b81531278c87b768
Autor:
Ebun Omoyinmi, Ariane Standing, Annette Keylock, Fiona Price-Kuehne, Sonia Melo Gomes, Dorota Rowczenio, Sira Nanthapisal, Thomas Cullup, Rodney Nyanhete, Emma Ashton, Claire Murphy, Megan Clarke, Helena Ahlfors, Lucy Jenkins, Kimberly Gilmour, Despina Eleftheriou, Helen J Lachmann, Philip N Hawkins, Nigel Klein, Paul A Brogan
Publikováno v:
PLoS ONE, Vol 12, Iss 7, p e0181874 (2017)
Monogenic autoinflammatory diseases (AID) are a rapidly expanding group of genetically diverse but phenotypically overlapping systemic inflammatory disorders associated with dysregulated innate immunity. They cause significant morbidity, mortality an
Externí odkaz:
https://doaj.org/article/af04bb63bbd945f089230fb731d184d5
Autor:
Elizabeth R. Wan, Daniela Iancu, Emma Ashton, Keith Siew, Barian Mohidin, Chih-Chien Sung, China Nagano, Detlef Bockenhauer, Shih-Hua Lin, Kandai Nozu, Stephen B. Walsh
Publikováno v:
Kidney International Reports. 8:556-565
Autor:
Zainab Arslan, Hazel Webb, Emma Ashton, Becky Foxler, Kjell Tullus, Aoife Waters, Detlef Bockenhauer
Publikováno v:
Pediatric Nephrology. 38:1051-1056
Primary steroid resistant nephrotic syndrome (SRNS) is thought to have either genetic or immune-mediated aetiology. Knowing which children to screen for genetic causes can be difficult. Several studies have described the prevalence of genetic causes
Autor:
Judy Savige, Helen Storey, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Alessandra Renieri, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabeth Ars, Agnieszka Bierzynska, Concetta Gangemi, Beata S. Lipska-Ziętkiewicz
Publikováno v:
European Journal of Human Genetics.
Publikováno v:
Sustainability Science
The Sustainable Development Goals (SDGs) recognise the importance of action across all scales to achieve a sustainable future. To contribute to overall national- and global-scale SDG achievement, local communities need to focus on a locally-relevant
Autor:
Judy Savige, Beata S. Lipska-Zietkiewicz, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabet Ars, Agnieszka Bierzynska, Concetta Gangemi, Alessandra Renieri, Helen Storey, Frances Flinter
Publikováno v:
Clinical Journal of the American Society of Nephrology
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Universidad Europea (UEM)
Clin J Am Soc Nephrol
Clinical journal of the American Society of Nephrology, 17(1), 143-154. American Society of Nephrology
Savige, J, Lipska-Zietkiewicz, B S, Watson, E, Hertz, J M, Deltas, C, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, D G, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, Al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C, Renieri, A, Storey, H & Flinter, F 2022, ' Guidelines for Genetic Testing and Management of Alport Syndrome ', Clinical Journal of American Society of Nephrology., vol. 17, no. 1, pp. 143-154 . https://doi.org/10.2215/CJN.04230321
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Universidad Europea (UEM)
Clin J Am Soc Nephrol
Clinical journal of the American Society of Nephrology, 17(1), 143-154. American Society of Nephrology
Savige, J, Lipska-Zietkiewicz, B S, Watson, E, Hertz, J M, Deltas, C, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, D G, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, Al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C, Renieri, A, Storey, H & Flinter, F 2022, ' Guidelines for Genetic Testing and Management of Alport Syndrome ', Clinical Journal of American Society of Nephrology., vol. 17, no. 1, pp. 143-154 . https://doi.org/10.2215/CJN.04230321
Genetic testing for pathogenic COL4A3-5 variants is usually undertaken to investigate the cause of persistent hematuria, especially with a family history of hematuria or kidney function impairment. Alport syndrome experts now advocate genetic testing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0851184c2730de09da5d744112eb31e8
https://www.bib.irb.hr/1197195
https://www.bib.irb.hr/1197195
Autor:
Elizabeth Wan, Daniela Iancu, Emma Ashton, Keith Siew, Barian Mohidin, Chih-Chien Sung, China Nagano, Detlef Bockenhauer, Shih-Hua Lin, Kandai Nozu, Stephen B Walsh
BackgroundDistinguishing patients with the inherited salt-losing tubulopathies (SLT), Gitelman or Bartter syndrome (GS or BS) from wildtype (WT) patients who purge is difficult. We decided to identify clinical/biochemical characteristics which correc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3a06ffd5fcf024aa5f2f29f161d44c73
https://doi.org/10.1101/2021.12.12.21267676
https://doi.org/10.1101/2021.12.12.21267676