Literature DB >> 23793209

Neurofibromatosis: chronological history and current issues.

João Roberto Antônio1, Eny Maria Goloni-Bertollo, Lívia Arroyo Trídico.   

Abstract

Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous system, bones, eyes and possibly other organs. The disease may manifest in several ways and it can vary from individual to individual. Given the wealth of information about neurofibromatosis, we attempted to present this information in different ways. In the first part of this work, we present a chronological history, which describes the evolution of the disease since the early publications about the disorder until the conclusion of this work, focusing on relevant aspects which can be used by those wishing to investigate this disease. In the second part, we present an update on the various aspects that constitute this disease.

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Year:  2013        PMID: 23793209      PMCID: PMC3754363          DOI: 10.1590/abd1806-4841.20132125

Source DB:  PubMed          Journal:  An Bras Dermatol        ISSN: 0365-0596            Impact factor:   1.896


  106 in total

Review 1.  Neurofibromin: a general outlook.

Authors:  A B Trovó-Marqui; E H Tajara
Journal:  Clin Genet       Date:  2006-07       Impact factor: 4.438

2.  Von Recklinghausen's disease: a clinicopathological study.

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Journal:  Ann Surg       Date:  1972-01       Impact factor: 12.969

3.  Mast-cell stabilization to decrease neurofibroma growth. Preliminary experience with ketotifen.

Authors:  V M Riccardi
Journal:  Arch Dermatol       Date:  1987-08

4.  The NF1 tumor suppressor critically regulates TSC2 and mTOR.

Authors:  Cory M Johannessen; Elizabeth E Reczek; Marianne F James; Hilde Brems; Eric Legius; Karen Cichowski
Journal:  Proc Natl Acad Sci U S A       Date:  2005-06-03       Impact factor: 11.205

5.  Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis.

Authors:  Meena Upadhyaya; Gill Spurlock; Laura Thomas; Nick S T Thomas; Mark Richards; Viktor-Felix Mautner; David N Cooper; Abhijit Guha; Jim Yan
Journal:  Hum Mutat       Date:  2012-03-05       Impact factor: 4.878

6.  Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients.

Authors:  Eric Pasmant; Julien Masliah-Planchon; Pascale Lévy; Ingrid Laurendeau; Nicolas Ortonne; Béatrice Parfait; Laurence Valeyrie-Allanore; Karen Leroy; Pierre Wolkenstein; Michel Vidaud; Dominique Vidaud; Ivan Bièche
Journal:  Mol Med       Date:  2010-09-10       Impact factor: 6.354

7.  Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).

Authors:  R E Ferner; R A C Hughes; S M Hall; M Upadhyaya; M R Johnson
Journal:  J Med Genet       Date:  2004-11       Impact factor: 6.318

8.  The genetic aspects of neurofibromatosis.

Authors:  J C Carey; B J Baty; J P Johnson; T Morrison; M Skolnick; J Kivlin
Journal:  Ann N Y Acad Sci       Date:  1986       Impact factor: 5.691

9.  Identification and characterization of the neurofibromatosis type 1 protein product.

Authors:  J E DeClue; B D Cohen; D R Lowy
Journal:  Proc Natl Acad Sci U S A       Date:  1991-11-15       Impact factor: 11.205

10.  A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene.

Authors:  S R Diehl; M Boehnke; R P Erickson; L M Ploughman; K A Seiler; J L Lieberman; H B Clarke; M A Bruce; E K Schorry; M Pericak-Vance
Journal:  Am J Hum Genet       Date:  1989-01       Impact factor: 11.025

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  6 in total

Review 1.  Musculoskeletal and overgrowth syndromes associated with cutaneous abnormalities.

Authors:  Bahar Dasgeb; Michael A Morris; Christina M Ring; Darius Mehregan; Michael E Mulligan
Journal:  Br J Radiol       Date:  2016-09-16       Impact factor: 3.039

Review 2.  Gadolinium-based contrast agents in neurofibromatosis type 1 (Review).

Authors:  Florentina Năstase; Diana Sabina Radaschin; Elena Niculeț; Bogdan Ioan Stefanescu; Aurel Nechita; Draganescu Miruna; Liliana Baroiu; Arbune Manuela; Alin Laurenţiu Tatu
Journal:  Exp Ther Med       Date:  2021-03-23       Impact factor: 2.447

3.  Current concepts of neurofibromatosis type 1: pathophysiology and treatment.

Authors:  Jaemin Choi; Sungbin An; So Young Lim
Journal:  Arch Craniofac Surg       Date:  2022-02-20

4.  Clinical and pathological features of upper limb nerve tumors - four years retrospective study.

Authors:  Andreea Grosu-Bularda; Răzvan Nicolae Teodoreanu; Flavia Francesca Liţă; Florin Vlad Hodea; Andra Luana Lăzărescu; Valentin Enache; Andreea Maria Vrâncianu; Ioan Lascăr
Journal:  Rom J Morphol Embryol       Date:  2021 Jul-Sep       Impact factor: 1.033

5.  'Adrenal rush' in a patient with Neurofibromatosis-1.

Authors:  Samiha Khan; Beenish Fayyaz; Janki Patel
Journal:  J Community Hosp Intern Med Perspect       Date:  2020-06-14

6.  Orthopaedic manifestations of neurofibromatosis type 1: A case report.

Authors:  Florentina Năstase; Diana Sabina Radaschin; Elena Niculeț; Andrei Vlad Brădeanu; Mădălina Codruța Verenca; Aurel Nechita; Valentin Chioncel; Lawrence Chukwudi Nwabudike; Liliana Baroiu; Eduard Drima Polea; Silvia Fotea; Lucretia Anghel; Alexandru Nechifor; Alin Laurenţiu Tatu
Journal:  Exp Ther Med       Date:  2021-12-13       Impact factor: 2.447

  6 in total

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