Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation (Q57737866)

Aldesia Provenzano

3

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Roberta Sestini

Roberta Sestini

2

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Berardino Porfirio

Berardino Porfirio

6

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Laura Papi

Laura Papi

9

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Maurizio Genuardi

Maurizio Genuardi

8

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author name string

Costanza Bacci

1

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Irene Paganini

4

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Rossella Vivarelli

https://scigraph.springernature.com/pub.10.1007/s10048-009-0204-2

7

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publication date

7 July 2009

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published in

Neurogenetics

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volume

11

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issue

1

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page(s)

73-80

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exact match

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cites work

Familial schwannomatosis: exclusion of the NF2 locus as the germline event

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Crossref

https://api.crossref.org/works/10.1007%2FS10048-009-0204-2

A clinical study of type 2 neurofibromatosis

21 January 2018

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Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations

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Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis

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Phenotypic diversity of neurofibromatosis 2: association with plexiform schwannoma

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Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors

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The power of point mutations

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Information analysis of human splice site mutations

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Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers

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Concurrent spinal schwannomas and meningiomas. Case illustration

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INI1 mutations in meningiomas at a potential hotspot in exon 9

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Intratumoral microhemorrhages on T2*-weighted gradient-echo imaging helps differentiate vestibular schwannoma from meningioma

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Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis

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Novel germ-line deletion of SNF5/INI1/SMARCB1 gene in neonate presenting with congenital malignant rhabdoid tumor of kidney and brain primitive neuroectodermal tumor

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The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

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Multiple meningiomas: differential involvement of the NF2 gene in children and adults

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Multiple cutaneous plexiform schwannomas with tumors of the central nervous system

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Management of patients with schwannomatosis: report of six cases and review of the literature

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Rhabdoid tumor of the kidney is a component of the rhabdoid predisposition syndrome

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Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation

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Schwannomatosis. An unusual variant of neurofibromatosis or a distinct clinical entity?

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Mutations of the hSNF5/INI1 Gene in Renal Rhabdoid Tumors With Second Primary Brain Tumors

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Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1

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Germline mutation of INI1/SMARCB1 in familial schwannomatosis

1 reference

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Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene

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Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study

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Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors

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Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene

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

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Automated splicing mutation analysis by information theory.

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Congenital disseminated malignant rhabdoid tumor and cerebellar tumor mimicking medulloblastoma in monozygotic twins: pathologic and molecular diagnosis

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Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas.

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Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring

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Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis

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12 December 2020

Molecular analysis of the rhabdoid predisposition syndrome in a child: a novel germline hSNF5/INI1 mutation and absence of c-myc amplification

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Molecular heterogeneity of meningioma with INI1 mutation

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12 December 2020