Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Sinéad M McGlacken-Byrne"'
Publikováno v:
BMJ Open Quality, Vol 13, Iss 1 (2024)
Background Multicentre comparative clinical audits have the potential to improve patient care, allow benchmarking and inform resource allocation. However, implementing effective and sustainable large-scale audit can be difficult within busy and resou
Externí odkaz:
https://doaj.org/article/65560d26cac848728713f3d3a98e2826
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency
Autor:
Sinéad M. McGlacken-Byrne, Ignacio Del Valle, Polona Le Quesne Stabej, Laura Bellutti, Luz Garcia-Alonso, Louise A. Ocaka, Miho Ishida, Jenifer P. Suntharalingham, Andrey Gagunashvili, Olumide K. Ogunbiyi, Talisa Mistry, Federica Buonocore, GOSgene, Berta Crespo, Nadjeda Moreno, Paola Niola, Tony Brooks, Caroline E. Brain, Mehul T. Dattani, Daniel Kelberman, Roser Vento-Tormo, Carlos F. Lagos, Gabriel Livera, Gerard S. Conway, John C. Achermann
Publikováno v:
JCI Insight, Vol 7, Iss 5 (2022)
Primary ovarian insufficiency (POI) affects 1% of women and carries significant medical and psychosocial sequelae. Approximately 10% of POI has a defined genetic cause, with most implicated genes relating to biological processes involved in early fet
Externí odkaz:
https://doaj.org/article/8de8a399e8464d42b747b0aa3003ebbc
Autor:
Sinéad M McGlacken-Byrne, Ashraf Abdelmaksoud, Mohammad Haini, Liina Palm, Michael Ashworth, Juan Li, Wei Wang, Xiumin Wang, Jian Wang, Bridget Callaghan, Veronica A Kinsler, Francesca Faravelli, Mehul T Dattani
Publikováno v:
European Journal of Endocrinology. 187:K55-K61
Genetic alterations within the cAMP/protein kinase A (PKA) pathway result in a spectrum of adrenocortical disorders. Implicated genes include GNAS, PDE8B, PDE11A, PRKAR1A/B, and PRKACA. To date, pathogenic somatic PRKACA variants and germline PRKACA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::939468c54d9ada5fa02c009fa4f5c446
https://doi.org/10.1530/eje-22-0287
https://doi.org/10.1530/eje-22-0287
Publikováno v:
Journal of Paediatrics and Child Health.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2912f32a441d2efadcd659a76240e54
https://doi.org/10.1111/jpc.16408
https://doi.org/10.1111/jpc.16408
Publikováno v:
Best Practice & Research Clinical Obstetrics & Gynaecology. 81:98-110
The natural lifespan of the ovary is occasionally interrupted by pathological processes; some are known, but many are unknown. Premature ovarian insufficiency (POI) can be a devastating diagnosis for an adolescent or for someone who has yet to start
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::408c286d974d0a277c66daaf7d1916c0
https://doi.org/10.1016/j.bpobgyn.2021.09.011
https://doi.org/10.1016/j.bpobgyn.2021.09.011
Autor:
Sinéad M McGlacken-Byrne, Jasmina Kallefullah Mohammad, Niamh Conlon, Diliara Gubaeva, Julie Siersbæk, Anders Jørgen Schou, Huseyin Demirbilek, Antonia Dastamani, Jayne A L Houghton, Klaus Brusgaard, Maria Melikyan, Henrik Christesen, Sarah E Flanagan, Nuala P Murphy, Pratik Shah
Publikováno v:
McGlacken-Byrne, S M, Mohammad, J K, Conlon, N, Gubaeva, D, Siersbæk, J, Schou, A J, Demirbilek, H, Dastamani, A, Houghton, J A L, Brusgaard, K, Melikyan, M, Christesen, H, Flanagan, S E, Murphy, N P & Shah, P 2022, ' Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia ', European Journal of Endocrinology, vol. 186, no. 4, pp. 417-427 . https://doi.org/10.1530/EJE-21-0897
Objective The phenotype mediated by HNF4A/HNF1A mutations is variable and includes diazoxide-responsive hyperinsulinaemic hypoglycaemia (HH) and maturity-onset diabetes of the young (MODY). Design We characterised an international multicentre paediat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c633e75590c4bd7905fb8beb09f440
https://doi.org/10.1530/eje-21-0897
https://doi.org/10.1530/eje-21-0897
Publikováno v:
Journal of the Endocrine Society. 6
A girl presenting with delayed puberty and elevated gonadotropins may have a range of conditions such as Turner syndrome (TS), primary ovarian insufficiency (POI), and 46,XY disorders of sexual development (DSD). An organized and measured approach to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abce31c1fac228a86200f31154411c04
https://doi.org/10.1210/jendso/bvac108
https://doi.org/10.1210/jendso/bvac108
Autor:
Nadjeda Moreno, Ignacio Del Valle Torres, Daniel Kelberman, Louise Ocaka, Chela James, Polona Le Quesne Stabej, Sinéad M. McGlacken-Byrne, Mehul T. Dattani, Gerard S. Conway, Andrey Gagunashvili, John C. Achermann, Berta Crespo, Chiara Bacchelli, Hywel Williams
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
BackgroundPrimary ovarian insufficiency (POI) affects 1% of women and is associated with significant medical consequences. A genetic cause for POI can be found in up to 30% of women, elucidating key roles for these genes in human ovary development.Ob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc91e3e3fd7b129e88b5a0fc1edf6ef2
https://pubmed.ncbi.nlm.nih.gov/34402903
https://pubmed.ncbi.nlm.nih.gov/34402903
Publikováno v:
Diabetic Medicine
Objective Children are usually mildly affected by severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2, COVID‐19). However, the pandemic has caused collateral damage to those with non‐COVID‐19 diseases. We aimed to determine the impa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::825d694a5b168138e5b3e91034da5d45
https://pubmed.ncbi.nlm.nih.gov/34245598
https://pubmed.ncbi.nlm.nih.gov/34245598