Literature DB >> 24258315

[Neurofibromatoses].

A Zimmer1.   

Abstract

Neurofibromatosis type 1 (NF1) and type 2 (NF2) are hereditary autosomal dominant neurocutaneous disorders, the phacomatoses, characterized by the development of tumors derived from the cells of the peripheral nerve sheath and also includes schwannomatosis. Regarding the clinical and genetic aspects they are, however, two distinct entities which are described separately in the following review. In addition to the typical clinical presentation and diagnostic criteria, characteristic imaging findings are presented especially in terms of the role of imaging in the diagnosis, follow-up and assessment of prognostic aspects in these multisystemic disorders.

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Mesh:

Year:  2013        PMID: 24258315     DOI: 10.1007/s00117-013-2555-9

Source DB:  PubMed          Journal:  Radiologe        ISSN: 0033-832X            Impact factor:   0.635


  27 in total

1.  A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.

Authors:  D G Evans; S M Huson; D Donnai; W Neary; V Blair; D Teare; V Newton; T Strachan; R Ramsden; R Harris
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

2.  The neuroimaging and clinical spectrum of neurofibromatosis 2.

Authors:  V F Mautner; M Lindenau; M E Baser; W Hazim; M Tatagiba; W Haase; M Samii; R Wais; S M Pulst
Journal:  Neurosurgery       Date:  1996-05       Impact factor: 4.654

Review 3.  Intracranial neoplasms in children with neurofibromatosis 1.

Authors:  Tena Rosser; Roger J Packer
Journal:  J Child Neurol       Date:  2002-08       Impact factor: 1.987

4.  Neurofibromatosis types 1 and 2: cranial MR findings.

Authors:  S Aoki; A J Barkovich; K Nishimura; B O Kjos; T Machida; P Cogen; M Edwards; D Norman
Journal:  Radiology       Date:  1989-08       Impact factor: 11.105

5.  Cerebrovascular changes in neurofibromatosis.

Authors:  P M Levisohn; M A Mikhael; S M Rothman
Journal:  Dev Med Child Neurol       Date:  1978-12       Impact factor: 5.449

6.  Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain.

Authors:  D P DiPaolo; R A Zimmerman; L B Rorke; E H Zackai; L T Bilaniuk; A T Yachnis
Journal:  Radiology       Date:  1995-06       Impact factor: 11.105

7.  Type 2 neurofibromatosis: the need for supraregional care?

Authors:  D G Evans; R Ramsden; S M Huson; R Harris; R Lye; T T King
Journal:  J Laryngol Otol       Date:  1993-05       Impact factor: 1.469

8.  Optic gliomas in children with neurofibromatosis type 1.

Authors:  R Listernick; J Charrow; M J Greenwald; N B Esterly
Journal:  J Pediatr       Date:  1989-05       Impact factor: 4.406

9.  A clinical study of type 2 neurofibromatosis.

Authors:  D G Evans; S M Huson; D Donnai; W Neary; V Blair; V Newton; R Harris
Journal:  Q J Med       Date:  1992-08

10.  Neuro-oncology of Neurofibromatosis Type 1.

Authors:  Andreas F Hottinger; Yasmin Khakoo
Journal:  Curr Treat Options Neurol       Date:  2009-07       Impact factor: 3.598

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  2 in total

Review 1.  [CNS manifestations of neurocutaneous syndromes].

Authors:  Umut Yilmaz
Journal:  Radiologe       Date:  2018-07       Impact factor: 0.635

2.  Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1.

Authors:  Sara H Isakson; Anthony E Rizzardi; Alexander W Coutts; Daniel F Carlson; Mark N Kirstein; James Fisher; Jeremie Vitte; Kyle B Williams; G Elizabeth Pluhar; Sonika Dahiya; Brigitte C Widemann; Eva Dombi; Tilat Rizvi; Nancy Ratner; Ludwine Messiaen; Anat O Stemmer-Rachamimov; Scott C Fahrenkrug; David H Gutmann; Marco Giovannini; Christopher L Moertel; David A Largaespada; Adrienne L Watson
Journal:  Commun Biol       Date:  2018-10-02
  2 in total

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