Schwannomatosis

Known as: Neurilemmomatosis, Neurilemmomatosis, congenital cutaneous, Neurinomatosis 
A rare genetic disorder characterized by the presence of multiple schwannomas.
National Institutes of Health

Related topics

Related topics

11 relations
NF2 geneNeoplastic CellNervous system structureNeurilemma
(More)

Broader (3)

NeurilemmomaNeurofibromatosesSkin Neoplasms

Narrower (1)

SCHWANNOMATOSIS 1

Papers overview

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2012
2012
Hybrid neurofibroma/schwannoma is overrepresented among schwannomatosis and neurofibromatosis patients.
We analyzed the histologic features of peripheral nerve sheath tumors occurring in 14 patients with schwannomatosis. Among a… (More)
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2011
2011
Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up. Clinical article.
OBJECT The aim of this study was to provide disease-specific information about schwannomatosis in its different forms and to… (More)
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2011
2011
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis
BACKGROUND Schwannomatosis is a disease characterized by multiple non-vestibular schwannomas. Although biallelic NF2 mutations… (More)
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2009
2009
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation
Schwannomatosis (MIM 162091) is a condition predisposing to the development of central and peripheral schwannomas; most cases are… (More)
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Highly Cited
2008
Highly Cited
2008
Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis.
Schwannomatosis is a third major form of neurofibromatosis that has recently been linked to mutations in the SMARCB1 (hSnf5/INI1… (More)
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Highly Cited
2007
Highly Cited
2007
Germline mutation of INI1/SMARCB1 in familial schwannomatosis.
Patients with schwannomatosis develop multiple schwannomas but no vestibular schwannomas diagnostic of neurofibromatosis type 2… (More)
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2006
2006
Increasing the specificity of diagnostic criteria for schwannomatosis.
Diagnostic criteria for schwannomatosis have been proposed in a recent consensus statement. These criteria permit schwannomatosis… (More)
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Review
2005
Review
2005
Diagnostic criteria for schwannomatosis.
The neurofibromatoses are a diverse group of genetic conditions that share a predisposition to the development of tumors of the… (More)
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2003
2003
Familial schwannomatosis: exclusion of the NF2 locus as the germline event.
BACKGROUND Schwannomatosis is a recently recognized disorder, defined as multiple pathologically proven schwannomas without… (More)
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Review
1996
Review
1996
Schwannomatosis: a clinical and pathologic study.
Schwannomas are benign nerve sheath tumors that most commonly occur singularly in otherwise normal individuals. Multiple… (More)
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