A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas (Q38862375)

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English	A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas	scientific article

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7 September 2017

A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas (English)

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7 September 2017

Valerio D'Orazi

6

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28365909 AND SRC:MED&resulttype=core&format=json

4 June 2020

Francesco Nicita

10

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4 June 2020

Sebastiano Cavallaro

15

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4 June 2020

17

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4 June 2020

Gabriele L Capone

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Gabriele Lorenzo Capone

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4 June 2020

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Rosario Caltabiano

1

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4 June 2020

Gaetano Magro

2

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4 June 2020

Agata Polizzi

3

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4 June 2020

Andrea Domenico Praticò

4

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4 June 2020

Andrea Ortensi

5

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4 June 2020

Andrea Panunzi

7

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4 June 2020

Pietro Milone

8

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4 June 2020

Luigi Maiolino

9

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4 June 2020

Roberta Sestini

12

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4 June 2020

Irene Paganini

13

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4 June 2020

Mariella Muglia

14

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4 June 2020

Salvatore Lanzafame

16

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4 June 2020

Martino Ruggieri

18

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4 June 2020

publication date

1 April 2017

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7 September 2017

Child's Nervous System

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4 June 2020

33

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4 June 2020

6

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4 June 2020

933-940

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4 June 2020

Back to the future: proceedings from the 2010 NF Conference.

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Neurofibromatosis 2011: a report of the Children's Tumor Foundation annual meeting.

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

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

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Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms

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Schwannomatosis: a clinical and pathologic study

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Diagnostic criteria for schwannomatosis

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21 January 2018

Increasing the specificity of diagnostic criteria for schwannomatosis

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21 January 2018

Clinical features of schwannomatosis: a retrospective analysis of 87 patients

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21 January 2018

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

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21 January 2018

The clinical and diagnostic implications of mosaicism in the neurofibromatoses.

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21 January 2018

Ophthalmological manifestations in segmental neurofibromatosis type 1

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21 January 2018

Molecular Analysis of Hybrid Neurofibroma/Schwannoma Identifies Common Monosomy 22 and α-T-Catenin/CTNNA3 as a Novel Candidate Tumor Suppressor

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21 January 2018

Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.

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21 January 2018

Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb.

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21 January 2018

Mosaic Neurocutaneous Disorders and Their Causes.

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21 January 2018

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

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21 January 2018

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

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21 January 2018

Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis

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21 January 2018

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

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21 January 2018

Expanding the mutational spectrum of LZTR1 in schwannomatosis

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21 January 2018

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

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21 January 2018

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

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21 January 2018

Absence of expression of SMARCB1/INI1 in malignant rhabdoid tumors of the central nervous system, kidneys and soft tissue: an immunohistochemical study with implications for diagnosis.

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21 January 2018

Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors

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21 January 2018

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

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21 January 2018

Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients

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21 January 2018

Natural history of neurofibromatosis type 2 with onset before the age of 1 year

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Neurofibromatosis Type 2.

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21 January 2018

Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up

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21 January 2018

The different forms of neurofibromatosis

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Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.

1 reference

https://pubmed.ncbi.nlm.nih.gov/28365909

12 December 2020

based on heuristic

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Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): no longer neurofibromatosis type 5 (NF5)

1 reference

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12 December 2020

based on heuristic

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Multiple schwannomatosis caused by the recently described INI1 gene – molecular pathology, and implications for prognosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/28365909

12 December 2020

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Multiple schwannomas: schwannomatosis or neurofibromatosis type 2?

1 reference

https://pubmed.ncbi.nlm.nih.gov/28365909

12 December 2020

based on heuristic

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Segmental neurofibromatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/28365909

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based on heuristic

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