Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis - Wikidata - wikimedia - TriplyDB

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

http://www.wikidata.org/entity/Q30394068

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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 Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.Recent developments in brain tumor predisposing syndromes.Pediatric Non-vestibular Schwannoma.The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.Fingolimod: a review of its mode of action in the context of its efficacy and safety profile in relapsing forms of multiple sclerosis.A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth.SMARCB1-deficient Tumors of Childhood: A Practical Guide.Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager.Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.Pain correlates with germline mutation in schwannomatosis.Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.Multiparametric whole-body anatomic, functional, and metabolic imaging characteristics of peripheral lesions in patients with schwannomatosis.[Pathogenesis and molecular pathology of vestibular schwannoma].Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.Bilateral vestibular schwannomas in older patients: NF2 or chance?Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells

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Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

http://www.wikidata.org/entity/Q30394068

description

2014 nî lūn-bûn

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2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

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Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

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Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

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Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

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Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

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Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

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Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

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Alan Fryer

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Amir Samii

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Bertand Isidor

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Beverly Anderson

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Cecilie F Rustad

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Daniel du Plessis

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James O'Sullivan

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Jill E Urquhart

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P2860

Neurofibromatosis type 2 (NF2): a clinical and molecular review

Fast and accurate short read alignment with Burrows-Wheeler transform

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Diagnostic criteria for schwannomatosis

Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification.

Paediatric presentation of type 2 neurofibromatosis.

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

The integrated landscape of driver genomic alterations in glioblastoma.

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

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

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