Literature DB >> 22411249

Neurofibromatoses.

Erik J Uhlmann1, Scott R Plotkin.   

Abstract

The studies of familial tumor predisposition syndromes have contributed immensely to our understanding of oncogenesis. Neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis are inherited autosomal dominant neurocutaneous disorders with complete penetrance. They are clinically and genetically distinct and considerable knowledge has been gathered about their pathogenesis. In this chapter, the genetics, molecular mechanism of disease, as well as clinical features, diagnosis and treatment are discussed.

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Year:  2012        PMID: 22411249     DOI: 10.1007/978-1-4614-0653-2_20

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN: 0065-2598            Impact factor:   2.622


  10 in total

Review 1.  Oral Manifestations and Molecular Basis of Oral Genodermatoses: A Review.

Authors:  Kiran Kumar; A S Shilpasree; Meenakshi Chaudhary
Journal:  J Clin Diagn Res       Date:  2016-05-01

2.  Canonical Wnt/β-catenin signaling drives human schwann cell transformation, progression, and tumor maintenance.

Authors:  Adrienne L Watson; Eric P Rahrmann; Branden S Moriarity; Kwangmin Choi; Caitlin B Conboy; Andrew D Greeley; Amanda L Halfond; Leah K Anderson; Brian R Wahl; Vincent W Keng; Anthony E Rizzardi; Colleen L Forster; Margaret H Collins; Aaron L Sarver; Margaret R Wallace; Stephen C Schmechel; Nancy Ratner; David A Largaespada
Journal:  Cancer Discov       Date:  2013-03-27       Impact factor: 39.397

Review 3.  Spinal cord tumours: advances in genetics and their implications for treatment.

Authors:  Patricia L Zadnik; Ziya L Gokaslan; Peter C Burger; Chetan Bettegowda
Journal:  Nat Rev Neurol       Date:  2013-03-26       Impact factor: 42.937

Review 4.  Familial syndromes associated with intracranial tumours: a review.

Authors:  Adrianna M Ranger; Yatri K Patel; Navjot Chaudhary; Ram V Anantha
Journal:  Childs Nerv Syst       Date:  2013-11-06       Impact factor: 1.475

5.  Neurofibromatosis type 1 and chronic neurological conditions in the United States: an administrative claims analysis.

Authors:  Chinwe C Madubata; Margaret A Olsen; Dustin L Stwalley; David H Gutmann; Kimberly J Johnson
Journal:  Genet Med       Date:  2014-06-05       Impact factor: 8.822

6.  Multiparametric whole-body anatomic, functional, and metabolic imaging characteristics of peripheral lesions in patients with schwannomatosis.

Authors:  Shivani Ahlawat; Asad Baig; Jaishri O Blakeley; Michael A Jacobs; Laura M Fayad
Journal:  J Magn Reson Imaging       Date:  2016-03-17       Impact factor: 5.119

Review 7.  A differential diagnosis of inherited endocrine tumors and their tumor counterparts.

Authors:  Sergio P A Toledo; Delmar M Lourenço; Rodrigo A Toledo
Journal:  Clinics (Sao Paulo)       Date:  2013-07       Impact factor: 2.365

Review 8.  Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography.

Authors:  Barmak Abdolrahimzadeh; Domenica Carmen Piraino; Giorgio Albanese; Filippo Cruciani; Siavash Rahimi
Journal:  Clin Ophthalmol       Date:  2016-05-13

9.  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

10.  Primary intratracheal schwannoma misdiagnosed as severe asthma in an adolescent: A case report.

Authors:  Hui-Rong Huang; Pei-Qiang Li; Yi-Xin Wan
Journal:  World J Clin Cases       Date:  2021-06-16       Impact factor: 1.337

  10 in total

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