SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis - Wikidata - awgldk - TriplyDB

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

http://www.wikidata.org/entity/Q33800041

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SWI/SNF chromatin remodeling complexes and cancer Unilateral vestibular schwannoma in a patient with schwannomatosis in the absence of LZTR1 mutation.Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis The molecular biology of vestibular schwannomas and its association with hearing loss: a review.Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb.Expanding the mutational spectrum of LZTR1 in schwannomatosis.Pediatric Non-vestibular Schwannoma.The neuropsychology of depression and its implications for cognitive therapy.The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.Update on pediatric cancer predisposition syndromes.A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors.An association of peripheral nerve sheath tumors and lipomas.Solitary epicranial neurofibroma with NF1-related germline mutation: case report.Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri.Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS).Rehabilitation of the emotional problems of brain disorders in developing countries.Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants The neural bases of prosody: Insights from lesion studies and neuroimaging

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SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

http://www.wikidata.org/entity/Q33800041

description

2011 nî lūn-bûn

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2011 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2011 թվականի հունվարին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

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SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

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type

label

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

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SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

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prefLabel

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

@ast

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

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SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

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Guillaume Rousseau

http://www.w3.org/2001/XMLSchema#string

Hagay Sobol

http://www.w3.org/2001/XMLSchema#string

Sylviane Olschwang

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Tetsuro Noguchi

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Violaine Bourdon

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P2860

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

Diagnostic criteria for schwannomatosis

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

The neurofibromatoses. Part 2: NF2 and schwannomatosis.

Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.

Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype.

SMARCB1 mutations are not a common cause of multiple meningiomas

Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

SMARCB1/INI1maternal germ line mosaicism in schwannomatosis

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9

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10.1186/1471-2377-11-9

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11

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Sylviane Olschwang

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2011-01-24T00:00:00Z

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49774810

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21255467

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3037869

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