Zobrazeno 1 - 10 of 33 pro vyhledávání: '"George Kokai"'
1
Akademický článek
A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma
Autor: James Blackburn, Dinesh Giri, Barbara Ciolka, Nicole Gossan, Mohammad Didi, George Kokai, Alison Waghorn, Matthew Jones, Senthil Senniappan
Publikováno v: Case Reports in Genetics, Vol 2018 (2018)
Activating mutations in thyrotropin receptor (TSHR) have been previously described in the context of nonautoimmune hyperthyroidism and thyroid adenomas. We describe, for the first time, a mutation in TSHR contributing to follicular thyroid carcinoma
Externí odkaz: https://doaj.org/article/4e46b77a9b5a493a966be9008ee70978
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2
Akademický článek
Anaplastic Large-Cell Lymphoma in a Child with Type I Diabetes and Unrecognised Coeliac Disease
Autor: Jemima Sharp, Barry Pizer, George Kokai, Marcus K. H. Auth
Publikováno v: Case Reports in Pediatrics, Vol 2012 (2012)
Screening for coeliac disease is recommended for children from certain risk groups, with implications for diagnostic procedures and dietetic management. The risk of a malignant complication in untreated coeliac disease is not considered high in child
Externí odkaz: https://doaj.org/article/5498e9ecc4834323a8c074ade6389e1b
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4
A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma
Autor: Dinesh Giri, Alison Waghorn, George Kokai, Senthil Senniappan, James Blackburn, Nicole Gossan, Matthew Jones, Barbara Ciolka, Mohammad Didi
Publikováno v: Case Reports in Genetics, Vol 2018 (2018)
Case Reports in Genetics
Activating mutations in thyrotropin receptor (TSHR) have been previously described in the context of nonautoimmune hyperthyroidism and thyroid adenomas. We describe, for the first time, a mutation inTSHRcontributing to follicular thyroid carcinoma (F
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f6212c73bd943d5453742c454c4aa4f
https://doaj.org/article/4e46b77a9b5a493a966be9008ee70978
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7
Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature
Autor: George Kokai, Julian Verbov, Mario Abinun, Jo McPartland, Chris M. Bacon, Michael Wright, David Bourn, Lisa Strain, L. J. McCann, Andrew Riordan, Eduardo Calonje, Dawn Barge
Publikováno v: Journal of Clinical Immunology
We report a child with short stature since birth who was otherwise well, presenting at 2.8 years with progressive granulomatous skin lesions when diagnosed with severe T cell immunodeficiency. When previously investigated for short stature, and at th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c42aa4789df2b0342ebce71728d2b69
http://europepmc.org/articles/PMC7086599
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8
Characterization of Wnt/β-catenin signaling in rhabdomyosarcoma
Autor: Carlo Dominici, Stefania Uccini, Timothy R. Helliwell, Heather P. McDowell, Srinivas R Annavarapu, George Kokai, Simona Ceccarelli, Samantha Cialfi
Publikováno v: Laboratory Investigation. 93:1090-1099
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and accounts for about 5% of all malignant paediatric tumours. β-Catenin, a multifunctional nuclear transcription factor in the canonical Wnt signaling pathway, is active in m
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e13e98cdde0ae4d09d038d65688ac6e
https://doi.org/10.1038/labinvest.2013.97
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9
Foreign Body Granuloma Secondary to Ventriculo-Peritoneal Shunt: A Rare Scenario with a New Insight
Autor: Christopher P. Millward, Benedetta Pettorini, Sandra Perez da Rosa, Dawn Williams, George Kokai, Aideen Byrne
Publikováno v: Pediatric Neurosurgery. 49:236-239
Ventriculo-peritoneal shunts are used extensively for the management of hydrocephalus and frequently present with complications such as shunt blockage and infection. Cerebrospinal fluid (CSF) eosinophilia and allergic responses to the shunt itself ar
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::969cfb4cb0603e037c062df39d4a93b7
https://doi.org/10.1159/000363330
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10
Morphological and molecular assessment of apoptotic mechanisms in peripheral neuroblastic tumours
Autor: Renata Boldrini, Alberto Donfrancesco, Francesco Massimo Perla, George Kokai, Carlo Dominici, Stefania Uccini, Maria Rita Nicotra, Pier Giorgio Natali, Pierluigi Altavista, Cristina Colarossi, Carlo Cappelli, Denis A. Cozzi, Paul D. Losty, Stefania Scarpino, C. Boglino, Olga Mannarino, Heather P. McDowell
Publikováno v: British Journal of Cancer
British Journal of Cancer 1 (2006): 49–55.
info:cnr-pdr/source/autori:Uccini S, Colarossi C, Scarpino S, Boldrini R, Natali PG, Nicotra MR, Perla FM, Mannarino O, Altavista P, Boglino C, Cappelli CA, Cozzi D, Donfrancesco A, Kokai G, Losty PD, McDowell HP, Dominici C./titolo:Morphological and molecular assessment of apoptotic mechanisms in peripheral neuroblastic tumours./doi:/rivista:British Journal of Cancer/anno:2006/pagina_da:49/pagina_a:55/intervallo_pagine:49–55/volume:1
Multiple defects in apoptotic pathways have been described in peripheral neuroblastic tumours (NTs). Mitosis-karyorrhexis index (MKI) is a reliable morphological marker identifying favourable and unfavourable NTs. The extent to which apoptotic proces
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5277a015c41d38ec3c3d56bad5a35876
https://doi.org/10.1038/sj.bjc.6603212
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