نتائج البحث - "Familial schwannomatosis"

المصدر: Widemann , B C , Acosta , M T , Ammoun , S , Belzberg , A J , Bernards , A , Blakeley , J , Bretscher , A , Cichowski , K , Clapp , D W , Dombi , E , Evans , G D , Ferner , R , Fernandez-Valle , C , Fisher , M J , Giovannini , M , Gutmann , D H , Hanemann , C O , Hennigan , R , Huson , S , Ingram , D , Kissil , J , Korf , B R , Legius , ....

مصطلحات موضوعية: neurofibromatosis type 1, neurofibromatosis type 2, NF1, NF2, schwannomatosis, tumor suppressor, SMARCB1, merlin neurofibromin, preclinical models, HISTONE DEACETYLASE INHIBITOR, NEUROFIBROMATOSIS TYPE-2, VESTIBULAR SCHWANNOMAS, FAMILIAL SCHWANNOMATOSIS, SPORADIC SCHWANNOMATOSIS, RETROSPECTIVE ANALYSIS, MULTIPLE MENINGIOMAS, DIAGNOSTIC-CRITERIA, SMARCB1 MUTATIONS, CLINICAL ARTICLE

Relation: https://kclpure.kcl.ac.uk/portal/en/publications/a798a968-752c-485e-8e80-7ca894e8377c

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/a798a968-752c-485e-8e80-7ca894e8377c
https://doi.org/10.1002/ajmg.a.36312

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5

Academic Journal

Six cases of sporadic schwannomatosis : topographic distribution and outcomes of peripheral nerve tumors

المؤلفون: Chick, Grégoire-Nicolas, Victor, Jan, Hollevoet, Nadine

المصدر: HAND SURGERY & REHABILITATION ; ISSN: 2468-1229

مصطلحات موضوعية: Medicine and Health Sciences, Multiple schwannomas, Schwannomatosis, MR nerve imaging, TYPE-2 NEUROFIBROMATOSIS, FAMILIAL SCHWANNOMATOSIS, DIAGNOSTIC-CRITERIA, SUPPRESSOR GENE, UPPER EXTREMITY, SMARCB1, NF2, VARIANT

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8532225; http://hdl.handle.net/1854/LU-8532225; http://dx.doi.org/10.1016/j.hansur.2017.07.001; https://biblio.ugent.be/publication/8532225/file/8532226

الاتاحة: https://biblio.ugent.be/publication/8532225
http://hdl.handle.net/1854/LU-8532225
https://doi.org/10.1016/j.hansur.2017.07.001
https://biblio.ugent.be/publication/8532225/file/8532226

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6

Academic Journal

CTF Meeting 2012: Translation of the Basic Understanding of the Biology and Genetics of NF1, NF2, and Schwannomatosis Toward the Development of Effective Therapies

المصدر: Faculty Bibliography 2010s

Relation: https://stars.library.ucf.edu/facultybib2010/6278

الاتاحة: https://stars.library.ucf.edu/facultybib2010/6278

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7

Schwannomatose em mulher de 83 anos de idade

المؤلفون: Murinello, António, Simões, José, Milheiro, Adelaide, Maçãs, Ana, Damásio, Helena, Ramalho, Vasco, Figueiredo, António, Guedes, Pedro, Serrano, Ana

المصدر: Revista Portuguesa de Ortopedia e Traumatologia v.20 n.4 2012
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Revista Portuguesa de Ortopedia e Traumatologia, Volume: 20, Issue: 4, Pages: 499-505, Published: DEC 2012

مصطلحات موضوعية: familial schwannomatosis, Schwannomatosis, pedal schwannoma, schwannomatose familiar, Schwannomatose, multiple schwannomas, schwannomas do pé, schwannomas múltiplos

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::efa3d67239062dc1c748e19fc0c0ed8d
http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S1646-21222012000400014

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8

Academic Journal

Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas

المؤلفون: Genuardi, M

المساهمون: Sestini, R, Bacci, C, Provenzano, A, Genuardi, Maurizio, Papi, L

مصطلحات موضوعية: CENTRAL-NERVOUS-SYSTEM, ATYPICAL TERATOID/RHABDOID TUMORS, RHABDOID PREDISPOSITION SYNDROME, HSNF5/INI1 GENE, FAMILIAL SCHWANNOMATOSIS, DIAGNOSTIC-CRITERIA, MOLECULAR ANALYSIS, GERMLINE MUTATION, BRAIN-TUMORS, INFANCY, Settore MED/03 - GENETICA MEDICA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000253033000004; volume:29; issue:2; firstpage:227; lastpage:231; numberofpages:5; issueyear:2008; journal:HUMAN MUTATION; https://hdl.handle.net/10807/219834

الاتاحة: https://hdl.handle.net/10807/219834
https://doi.org/10.1002/humu.20679

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9

Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas

المؤلفون: Laura Papi, Maurizio Genuardi, Roberta Sestini, Aldesia Provenzano, Costanza Bacci

مصطلحات موضوعية: Adult, Male, BRAIN-TUMORS, Chromosomal Proteins, Non-Histone, DIAGNOSTIC-CRITERIA, DNA Mutational Analysis, Molecular Sequence Data, Loss of Heterozygosity, Biology, MOLECULAR ANALYSIS, medicine.disease_cause, Settore MED/03 - GENETICA MEDICA, Germline, Loss of heterozygosity, Germline mutation, Peripheral Nervous System Neoplasms, otorhinolaryngologic diseases, Genetics, medicine, CENTRAL-NERVOUS-SYSTEM, ATYPICAL TERATOID/RHABDOID TUMORS, RHABDOID PREDISPOSITION SYNDROME, HSNF5/INI1 GENE, FAMILIAL SCHWANNOMATOSIS, GERMLINE MUTATION, INFANCY, Humans, Neurofibromatosis type 2, SMARCB1, Schwannomatosis, Genetics (clinical), Neurofibromin 2, Mutation, Base Sequence, SMARCB1 Protein, Middle Aged, medicine.disease, DNA-Binding Proteins, Cancer research, Female, Chromosome 22, Neurilemmoma, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eac27d5f7e73d1e49374a6a5c0a71f3c
https://hdl.handle.net/10807/219834

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10

Electronic Resource

Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas

المؤلفون: Sestini, R, Bacci, C, Provenzano, A, Genuardi, Maurizio, Papi, L, Genuardi, M (ORCID:0000-0002-7410-8351)

مصطلحات الفهرس: CENTRAL-NERVOUS-SYSTEM, ATYPICAL TERATOID/RHABDOID TUMORS, RHABDOID PREDISPOSITION SYNDROME, HSNF5/INI1 GENE, FAMILIAL SCHWANNOMATOSIS, DIAGNOSTIC-CRITERIA, MOLECULAR ANALYSIS, GERMLINE MUTATION, BRAIN-TUMORS, INFANCY, Settore MED/03 - GENETICA MEDICA, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10807/219834
info:eu-repo/semantics/altIdentifier/wos/WOS:000253033000004
volume:29
issue:2
firstpage:227
lastpage:231
numberofpages:5
issueyear:2008
journal:HUMAN MUTATION

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