Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. - Test2 - elhamkhani - TriplyDB

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.

http://www.wikidata.org/entity/Q53116195

about

A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening.A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.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.Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis Surgical management of giant neurofibroma in soft tissue: a single-center retrospective analysis.Multiple Schwannomas of the Spine: Review of the Schwannomatosis or Congenital Neurilemmomatosis: A Case Report.A Diagnostic Dilemma: Multiple Primary Intracranial Tumors Without Vestibular Schwannomas.Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study.Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas Neurofibromatoses: part 1 - diagnosis and differential diagnosis.A hereditary disposition for bovine peripheral nerve sheath tumors in Danish Holstein cattle 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.The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.Familial Schwannomatosis: A Diagnostic Challenge.Merlin, the NF2 gene product.Advances in the treatment of neurofibromatosis-associated tumours.Schwannomas and their pathogenesis.The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.Pediatric schwannomatosis, a rare but distinct form of neurofibromatosis.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.Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.Hybrid Neurofibroma-Schwannoma.Timing of Smarcb1 and Nf2 inactivation determines schwannoma versus rhabdoid tumor development.Intraneural Hybrid Neurofibroma/Schwannoma In Scalp: A Case Report.P14ARF deficiency and its correlation with overexpression of p53/MDM2 in sporadic vestibular schwannomas.Intraosseous schwannoma in schwannomatosis.Rediagnosing one of Smith's patients (John McCann) with "neuromas tumours" (1849).SMARCB1-deficient Tumors of Childhood: A Practical Guide.Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager.Familial schwannomatosis with a germline mutation of SMARCB1 in Japan.Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.Pain correlates with germline mutation in schwannomatosis.Recent Advances in Intradural Spinal Tumors.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.

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Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.

http://www.wikidata.org/entity/Q53116195

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年學術文章

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2013年學術文章

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Update from the 2011 Internati ...... netics to diagnostic criteria.

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Update from the 2011 Internati ...... netics to diagnostic criteria.

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Update from the 2011 Internati ...... netics to diagnostic criteria.

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Update from the 2011 Internati ...... netics to diagnostic criteria.

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Update from the 2011 Internati ...... netics to diagnostic criteria.

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Update from the 2011 Internati ...... netics to diagnostic criteria.

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American Journal of Medical Genetics

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Anat O Stemmer-Rachamimov

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Bruce Korf

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Ganjam V Kalpana

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Jaishri O Blakeley

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Kim Hunter-Schaedle

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Larry S Sherman

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Nancy Ratner

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Scott R Plotkin

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The HIV1 protein Vpr acts to enhance constitutive DCAF1-dependent UNG2 turnover

Interaction of E1 and hSNF5 proteins stimulates replication of human papillomavirus DNA

Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus

Specificity of interaction of INI1/hSNF5 with retroviral integrases and its functional significance

Purification and biochemical heterogeneity of the mammalian SWI-SNF complex

Diversity and specialization of mammalian SWI/SNF complexes

Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5

The SWI/SNF chromatin-remodeling complex is a cofactor for Tat transactivation of the HIV promoter

A masked NES in INI1/hSNF5 mediates hCRM1-dependent nuclear export: implications for tumorigenesis

Cell cycle arrest and repression of cyclin D1 transcription by INI1/hSNF5.

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10.1002/AJMG.A.35760

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Clemens O. Hanemann

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