Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Jose, Sian"'
Autor:
Rodd, Celia, Millette, Maude, Iacovazzo, Donato, Stiles, Craig E., Barry, Sayka, Evanson, Jane, Albrecht, Steffen, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Trouillas, Jacqueline, Roncaroli, Federico, Sampson, Julian, Ellard, Sian, Korbonits, Márta
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
Context: Recent reports have proposed that sporadic or familial germline Xq26.3 microduplications involving the GPR101 gene are associated with early-onset X-linked acrogigantism (XLAG) with a female preponderance. Case Description: A 4-year-old boy
Akademický článek
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Autor:
Rodd, Celia, Millette, Maude, Iacovazzo, Donato, Stiles, Craig E, Barry, Sayka, Evanson, Jane, Albrecht, Steffen, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Trouillas, Jacqueline, Roncaroli, Federico, Sampson, Julian, Ellard, Sian, Korbonits, Márta
Publikováno v:
Rodd, C, Millette, M, Iacovazzo, D, Stiles, C E, Barry, S, Evanson, J, Albrecht, S, Caswell, R, Bunce, B, Jose, S, Trouillas, J, Roncaroli, F, Sampson, J, Ellard, S & Korbonits, M 2016, ' Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management ', J. Clin. Endocrinol. Metab, vol. 101, no. 5, pp. 1927-30 . https://doi.org/10.1210/jc.2015-4366, https://doi.org/10.1210/jc.2015-4366
Context: Recent reports have proposed that sporadic or familial germline Xq26.3 microduplications involving the GPR101 gene are associated with early-onset X-linked acrogigantism (XLAG) with a female preponderance. Case Description: A 4-year-old boy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3818::ee9d71b2b55e8f2fb263d6bd1d2a4ee8
https://doi.org/10.1210/jc.2015-4366
https://doi.org/10.1210/jc.2015-4366
Autor:
Fry, Andrew, Rees, Elliott, Thompson, Rose, Mantripragada, Kiran, Blake, Penny, Jones, Glyn, Morgan, Sian, Jose, Sian, Hood Mugalaasi, Archer, Hayley, McCann, Emma, Clarke, Angus, Taylor, Clare, Davies, Sally, Gibbon, Frances, Naude, Johann Te Water, Hartley, Louise, Thomas, Gareth, White, Catharine, Natarajan, Jaya, Thomas, Rhys, Drew, Cheney, Seo-Kyung Chung, Rees, Mark, Holmans, Peter, Owen, Michael, Kirov, George, Pilz, Daniela, Kerr, Michael
A detailed demographic description of the cohort. Table S2. Previous cytogenetic and molecular testing in the cohort. (DOCX 17Â kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bbb1ec80e600317b5829167385aab361
Autor:
Iacovazzo, Donato, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Yuan, Bo, Hernández-Ramírez, Laura C., Kapur, Sonal, Caimari, Francisca, Evanson, Jane, Ferraù, Francesco, Dang, Mary N., Gabrovska, Plamena, Larkin, Sarah J., Ansorge, Olaf, Rodd, Celia, Vance, Mary L., Ramírez-Renteria, Claudia, Mercado, Moisés, Goldstone, Anthony P., Buchfelder, Michael, Burren, Christine P., Gurlek, Alper, Dutta, Pinaki, Choong, Catherine S., Cheetham, Timothy, Trivellin, Giampaolo, Stratakis, Constantine A., Lopes, Maria-Beatriz, Grossman, Ashley B., Trouillas, Jacqueline, Lupski, James R., Ellard, Sian, Sampson, Julian R., Roncaroli, Federico, Korbonits, Márta
Publikováno v:
Iacovazzo, D, Caswell, R, Bunce, B, Jose, S, Yuan, B, Hernández-Ramírez, LC, Kapur, S, Caimari, F, Evanson, J, Ferraù, F, Dang, MN, Gabrovska, P, Larkin, SJ, Ansorge, O, Rodd, C, Vance, ML, Ramírez-Renteria, C, Mercado, M, Goldstone, AP, Buchfelder, M, Burren, CP, Gurlek, A, Dutta, P, Choong, CS, Cheetham, T, Trivellin, G, Stratakis, CA, Lopes, MB, Grossman, AB, Trouillas, J, Lupski, JR, Ellard, S, Sampson, JR, Roncaroli, F & Korbonits, M 2016, ' Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study ', Acta Neuropathologica Communications, vol. 4, 56, pp. 0 . https://doi.org/10.1186/s40478-016-0328-1
Acta Neuropathologica Communications
Acta Neuropathologica Communications
Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d28e24b4af2b31330d13702937087b75
http://hdl.handle.net/11655/15084
http://hdl.handle.net/11655/15084
Autor:
Fry, Andrew E., Rees, Elliott, Thompson, Rose, Mantripragada, Kiran, Blake, Penny, Jones, Glyn, Morgan, Sian, Jose, Sian, Mugalaasi, Hood, Archer, Hayley, McCann, Emma, Clarke, Angus, Taylor, Clare, Davies, Sally, Gibbon, Frances, Te Water Naude, Johann, Hartley, Louise, Thomas, Gareth, White, Catharine, Natarajan, Jaya, Thomas, Rhys H., Drew, Cheney, Chung, Seo-Kyung, Rees, Mark I., Holmans, Peter, Owen, Michael J., Kirov, George, Pilz, Daniela T., Kerr, Michael P.
Publikováno v:
BMC Medical Genetics
Background Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ID and epilepsy. Methods We ev
Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Rodd, Celia, Millette, Maude, Iacovazzo, Donato, Stiles, Craig E., Barry, Sayka, Evanson, Jane, Albrecht, Steffen, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Trouillas, Jacqueline, Roncaroli, Federico, Sampson, Julian, Ellard, Sian, Korbonits, Márta
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism; May 2016, Vol. 101 Issue: 5 p1927-1930, 4p