Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Brianna L Kline"'
Autor:
Shabnam Bakhshalizadeh, Daniella H. Hock, Nicole A. Siddall, Brianna L. Kline, Rajini Sreenivasan, Katrina M. Bell, Franca Casagranda, Sadishkumar Kamalanathan, Jayaprakash Sahoo, Niya Narayanan, Dukhabandhu Naik, Varun Suryadevara, Alison G. Compton, Sumudu S. C. Amarasekera, Ridam Kapoor, Sylvie Jaillard, Andrea Simpson, Gorjana Robevska, Jocelyn van den Bergen, Svenja Pachernegg, Katie L. Ayers, David R. Thorburn, David A. Stroud, Gary R. Hime, Andrew H. Sinclair, Elena J. Tucker
Publikováno v:
Human Genetics.
Premature ovarian insufficiency (POI) is a common cause of infertility in women, characterised by amenorrhea and elevated FSH under the age of 40 years. In some cases, POI is syndromic in association with other features such as sensorineural hearing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c33a27deba34546e5f44fbbc71ef915
https://doi.org/10.1007/s00439-023-02563-z
https://doi.org/10.1007/s00439-023-02563-z
Autor:
Elena J. Tucker, Niklas Gutfreund, Marc‐Antoine Belaud‐Rotureau, David Gilot, Tiffany Brun, Brianna L. Kline, Katrina M. Bell, Mathilde Domin‐Bernhard, Camille Théard, Philippe Touraine, Gorjana Robevska, Jocelyn van van den Bergen, Katie L. Ayers, Andrew H. Sinclair, Volker Dötsch, Sylvie Jaillard
Publikováno v:
Human Mutation
Human Mutation, 2022, 43 (10), pp.1443-1453. ⟨10.1002/humu.24432⟩
Human Mutation, 2022, 43 (10), pp.1443-1453. ⟨10.1002/humu.24432⟩
International audience; Premature ovarian insufficiency (POI) is a leading form of female infertility, characterised by menstrual disturbance and elevated follicle-stimulating hormone before age 40. It is highly heterogeneous with variants in over 80
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8cb9bc9189a89315acaf4f0cb3a81cc
https://doi.org/10.1002/humu.24432
https://doi.org/10.1002/humu.24432
Autor:
Elena J Tucker, Megan J Baker, Daniella H Hock, Julia T Warren, Sylvie Jaillard, Katrina M Bell, Rajini Sreenivasan, Shabnam Bakhshalizadeh, Chloe A Hanna, Nikeisha J Caruana, Saskia B Wortmann, Shamima Rahman, Robert D S Pitceathly, Jean Donadieu, Aurelia Alimi, Vincent Launay, Paul Coppo, Sophie Christin-Maitre, Gorjana Robevska, Jocelyn van den Bergen, Brianna L Kline, Katie L Ayers, Phoebe N Stewart, David A Stroud, Diana Stojanovski, Andrew H Sinclair
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, 107, 12, pp. 3328-3340
Journal of Clinical Endocrinology and Metabolism, 107, 3328-3340
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2022, ⟨10.1210/clinem/dgac528⟩
Journal of Clinical Endocrinology and Metabolism, 107, 3328-3340
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2022, ⟨10.1210/clinem/dgac528⟩
Context Premature ovarian insufficiency (POI) is a common form of female infertility that usually presents as an isolated condition but can be part of various genetic syndromes. Early diagnosis and treatment of POI can minimize comorbidity and improv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e19e3ab2117292386cfd6e43b40e1c1
https://pubmed.ncbi.nlm.nih.gov/36074910
https://pubmed.ncbi.nlm.nih.gov/36074910
Autor:
Brianna L. Kline, Sylvie Jaillard, Katrina M. Bell, Shabnam Bakhshalizadeh, Gorjana Robevska, Jocelyn van den Bergen, Jérôme Dulon, Katie L. Ayers, John Christodoulou, Michel C. Tchan, Philippe Touraine, Andrew H. Sinclair, Elena J. Tucker
Publikováno v:
Genes
Genes, 2022, 13 (11), ⟨10.3390/genes13112113⟩
Genes, 2022, 13 (11), ⟨10.3390/genes13112113⟩
International audience; The mitochondrial ribosome is critical to mitochondrial protein synthesis. Defects in both the large and small subunits of the mitochondrial ribosome can cause human disease, including, but not limited to, cardiomyopathy, hypo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad0de0190c31125cc5a3297a9bd4b7ec
https://doi.org/10.3390/genes13112113
https://doi.org/10.3390/genes13112113