SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis
about
SWI/SNF chromatin remodeling complexes and cancerUnilateral 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 schwannomatosisThe molecular biology of vestibular schwannomas and its association with hearing loss: a review.Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityGermline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomasSegmental 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 schwannomatosisWhole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variantsThe neural bases of prosody: Insights from lesion studies and neuroimaging
P2860
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P2860
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis
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2011 nî lūn-bûn
@nan
2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
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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type
label
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis
@ast
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis
@en
prefLabel
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis
@ast
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis
@en
P2093
P2860
P356
P1433
P1476
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis
@en
P2093
Guillaume Rousseau
Hagay Sobol
Sylviane Olschwang
Tetsuro Noguchi
Violaine Bourdon
P2860
P2888
P356
10.1186/1471-2377-11-9
P577
2011-01-24T00:00:00Z
P5875
P6179
1047305909