Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Cristina Perez-Becerril"'
Autor:
Katherine V Sadler, John Bowes, Charlie F Rowlands, Cristina Perez-Becerril, C Mwee van der Meer, Andrew T King, Scott A Rutherford, Omar N Pathmanaban, Charlotte Hammerbeck-Ward, Simon K W Lloyd, Simon R Freeman, Ricky Williams, Cathal John Hannan, Daniel Lewis, Steve Eyre, D Gareth Evans, Miriam J Smith
Publikováno v:
Sadler, K, Bowes, J, Rowlands, C, Perez-Becerril, C, van der Meer, C M, King, A T, Rutherford, S A, Pathmanaban, O, Hammerbeck-ward, C, Lloyd, S K W, Freeman, S, Williams, R, Hannan, C J, Lewis, D, Eyre, S, Evans, D G & Smith, M J 2022, ' Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21 ', Brain. https://doi.org/10.1093/brain/awac478
Vestibular schwannomas are benign nerve sheath tumours that arise on the vestibulocochlear nerves. Vestibular schwannomas are known to occur in the context of tumour predisposition syndromes NF2-related and LZTR1-related schwannomatosis. However, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56e6e7c9057bbb14c32811fc35e8e63c
https://uom.elsevierpure.com/en/publications/79199585-efc4-4ec3-bcac-4c50a72be735
https://uom.elsevierpure.com/en/publications/79199585-efc4-4ec3-bcac-4c50a72be735
Autor:
Cristina Perez‐Becerril, Andrew J. Wallace, Helene Schlecht, Naomi L. Bowers, Philip T. Smith, Carolyn Gokhale, Helen Eaton, Chris Charlton, Rachel Robinson, Ruth S. Charlton, D. Gareth Evans, Miriam J. Smith
Publikováno v:
Human mutation. 43(10)
Schwannomatosis comprises a group of hereditary tumor predisposition syndromes characterized by, usually benign, multiple nerve sheath tumors, which frequently cause severe pain that does not typically respond to drug treatments. The most common schw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a0a59fa9682a67bcaeb6c8ca8733cd2
https://pubmed.ncbi.nlm.nih.gov/35723634
https://pubmed.ncbi.nlm.nih.gov/35723634
Publikováno v:
Perez-Becerril, C, Evans, D G & Smith, M J 2021, ' Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes ', Human Mutation, vol. 42, no. 10, pp. 1187-1207 . https://doi.org/10.1002/humu.24261
Neurofibromatosis type 1 (NF1), type 2 (NF2), and schwannomatosis are a group of autosomal dominant disorders that predispose to the development of nerve sheath tumors. Pathogenic variants (PVs) that cause NF1 and NF2 are located in the NF1 and NF2 l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de27d3eb413f27707a5b72cd10097253
https://doi.org/10.1002/humu.24261
https://doi.org/10.1002/humu.24261
Autor:
Ludwine Messiaen, Barbara Rivera, Donna M. McDonald-McGinn, Alexandra Murray, Miriam J. Smith, William D. Foulkes, Rachel E A Irving, David A. Stevenson, D. Gareth Evans, Cristina Perez-Becerril
Publikováno v:
Genetics in Medicine
Dipòsit Digital de la UB
Universidad de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
Purpose The LZTR1 gene has been associated with schwannomatosis tumor predisposition and is located in a region that is deleted in the great majority (89%) of patients with 22q11.2 deletion syndrome (22q11.2DS). Since it is known that approximately 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eb44945f07d2320bb0287b56570692c
http://hdl.handle.net/2445/177297
http://hdl.handle.net/2445/177297
Autor:
Cristina Perez-Becerril, Alex G. Morris, Steven R. Hirsch, Peter J. McKenna, Jacqueline de Belleroche, Ann M. Mortimer
Publikováno v:
International Clinical Psychopharmacology. 26:e107-e108
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::626b92467aa804f1a154d2e7db606e42
https://doi.org/10.1097/01.yic.0000405815.17185.f8
https://doi.org/10.1097/01.yic.0000405815.17185.f8