Literature DB >> 8953130

Neurofibromatosis type 1--an update and review for the primary pediatrician.

Y Goldberg1, K Dibbern, J Klein, V M Riccardi, J M Graham.   

Abstract

With an incidence of 1 in 3,000, neurofibromatosis type 1 (NF1), or von Recklinghausen disease, is one of the most common genetic disorders encountered by primary care physicians. NF1 is a multisystem disease that affects more than one million people worldwide (more than 80,000 in the United States). Although most pediatricians have patients with NF1 in their practices, many affected individuals go undiagnosed as children. This article is intended to facilitate the diagnosis and management of young patients with NF1.

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Year:  1996        PMID: 8953130     DOI: 10.1177/000992289603501101

Source DB:  PubMed          Journal:  Clin Pediatr (Phila)        ISSN: 0009-9228            Impact factor:   1.168


  6 in total

1.  Phase I trial of pegylated interferon-alpha-2b in young patients with plexiform neurofibromas.

Authors:  R I Jakacki; E Dombi; D M Potter; S Goldman; J C Allen; I F Pollack; B C Widemann
Journal:  Neurology       Date:  2011-01-18       Impact factor: 9.910

2.  Electro-oculogram in patients with neurofibromatosis type 1.

Authors:  W Lubiński; S Zajaczek; Z Sych; K Penkala; O Palacz; J Lubiński
Journal:  Doc Ophthalmol       Date:  2001-09       Impact factor: 2.379

3.  Supernormal electro-oculograms in patients with neurofibromatosis type 1.

Authors:  Wojciech Lubiński; Stanisław Zajaczek; Zbigniew Sych; Krzysztof Penkala; Olgierd Palacz; Jan Lubiński
Journal:  Hered Cancer Clin Pract       Date:  2004-09-15       Impact factor: 2.857

4.  Neurofibromatosis type 1 and the "elephant man's" disease: the confusion persists: an ethnographic study.

Authors:  Claire-Marie Legendre; Catherine Charpentier-Côté; Régen Drouin; Chantal Bouffard
Journal:  PLoS One       Date:  2011-02-09       Impact factor: 3.240

5.  Hyperactive RAS/PI3-K/MAPK Signaling Cascade in Migration and Adhesion of Nf1 Haploinsufficient Mesenchymal Stem/Progenitor Cells.

Authors:  Yuan Zhou; Yongzheng He; Richa Sharma; Wen Xing; Selina A Estwick; Xiaohua Wu; Steven D Rhodes; Mingjiang Xu; Feng-Chun Yang
Journal:  Int J Mol Sci       Date:  2015-06-01       Impact factor: 5.923

6.  A resected case of liver metastases from extra-adrenal retroperitoneal paraganglioma with von Recklinghausen's disease 16 years after the initial surgery.

Authors:  Kenji Sakai; Yoshito Tomimaru; Hidetoshi Eguchi; Shigeru Marubashi; Akira Tomokuni; Tadafumi Asaoka; Hiroshi Wada; Koichi Kawamoto; Koji Umeshita; Yuichiro Doki; Masaki Mori; Hiroaki Nagano
Journal:  Surg Case Rep       Date:  2015-09-21
  6 in total

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