Literature DB >> 11391665

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

M Ruggieri.   

Abstract

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Mesh：

Year:  2001        PMID： 11391665     DOI： 10.1002/ajmg.1332

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  6 in total

1.  Ophthalmological manifestations in segmental neurofibromatosis type 1.

Authors:  M Ruggieri; P Pavone; A Polizzi; M Di Pietro; A Scuderi; A Gabriele; A Spalice; P Iannetti
Journal:  Br J Ophthalmol       Date:  2004-11       Impact factor: 4.638

2.  Rediagnosing one of Smith's patients (John McCann) with "neuromas tumours" (1849).

Authors:  Martino Ruggieri; Andrea D Praticò; Rosario Caltabiano; Agata Polizzi
Journal:  Neurol Sci       Date:  2017-01-11       Impact factor: 3.307

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

Authors:  Rosario Caltabiano; Gaetano Magro; Agata Polizzi; Andrea Domenico Praticò; Andrea Ortensi; Valerio D'Orazi; Andrea Panunzi; Pietro Milone; Luigi Maiolino; Francesco Nicita; Gabriele Lorenzo Capone; Roberta Sestini; Irene Paganini; Mariella Muglia; Sebastiano Cavallaro; Salvatore Lanzafame; Laura Papi; Martino Ruggieri
Journal:  Childs Nerv Syst       Date:  2017-04-01       Impact factor: 1.475

4.  Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms.

Authors:  Martino Ruggieri; Andrea D Praticò; Agostino Serra; Luigi Maiolino; Salvatore Cocuzza; Rosario Caltabiano; Agata Polizzi
Journal:  Childs Nerv Syst       Date:  2016-09-26       Impact factor: 1.475

Review 5.  Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.

Authors:  M Ruggieri; A D Praticò; A Serra; L Maiolino; S Cocuzza; P Di Mauro; L Licciardello; P Milone; G Privitera; G Belfiore; M Di Pietro; F Di Raimondo; A Romano; A Chiarenza; M Muglia; A Polizzi; D G Evans
Journal:  Acta Otorhinolaryngol Ital       Date:  2016-10       Impact factor: 2.124

6.  Combinatorial therapeutic targeting of BMP2 and MEK-ERK pathways in NF1-associated malignant peripheral nerve sheath tumors.

Authors:  Sidra Ahsan; Yubin Ge; Michael A Tainsky
Journal:  Oncotarget       Date:  2016-08-30
  6 in total

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