Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: Clear positional effect of mutations, but absence of female severity effect on age at onset

Journal of Medical Genetics

Volumn 48, Issue 4, 2011, Pages 261-265

  Smith, Miriam J ^a   Higgs, Jenny E ^a   Bowers, Naomi L ^a   Halliday, Dorothy ^b   Paterson, Joan ^c   Gillespie, James ^d   Huson, Susan M ^a   Freeman, Simon R ^e   Lloyd, Simon ^e   Rutherford, Scott A ^d   King, Andrew T ^d   Wallace, Andrew J ^a   Ramsden, Richard T ^e   Evans, D Gareth R ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

^b OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^d SALFORD ROYAL NHS FOUNDATION TRUST   (United Kingdom)

^e MANCHESTER ROYAL INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROFIBROMATOSIS TYPE 2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CRANIAL MENINGIOMA; DISEASE SEVERITY; EXON; FEMALE; FRAMESHIFT MUTATION; GENDER; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MENINGIOMA; MISSENSE MUTATION; NEUROFIBROMATOSIS TYPE 2; NONSENSE MUTATION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SEX DIFFERENCE; SPLICING MUTATION;

COHORT STUDIES; EXONS; FEMALE; GENES, NEUROFIBROMATOSIS 2; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MENINGEAL NEOPLASMS; MENINGIOMA; MOSAICISM; MUTATION; NEUROFIBROMATOSIS 2; RISK ASSESSMENT; RISK FACTORS; SEX FACTORS;

EID: 79953707598     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.085241     Document Type: Article

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