Journal ArticleDOI
Neurofibromatosis 1: clinical manifestations and diagnostic criteria.
TLDR
The natural history and some important clinical manifestations of neurofibromatosis 1 are reviewed, with emphasis on features that constitute the standard diagnostic criteria and the pathogenic implications of these clinical manifestations are considered.Abstract:
Neurofibromatosis 1 occurs in 2 to 3 people per 10,000. The most frequent clinical features are cafe-au-Iait macules, neurofibromas, intertriginous freckling, Lisch nodules, and learning disabiliti...read more
Citations
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Journal ArticleDOI
Neurofibromatosis type 1 revisited.
Virginia Williams,John T. Lucas,Michael A. Babcock,David H. Gutmann,Bruce R. Korf,Bernard L. Maria +5 more
TL;DR: The clinical manifestations, recent molecular and genetic findings, and current and developing therapies for managing clinical problems associated with neurofibromatosis type 1 are described.
Journal ArticleDOI
Neurofibromatosis type 1: a multidisciplinary approach to care.
Angela C. Hirbe,David H. Gutmann +1 more
TL;DR: Clinicians must be aware of the diverse clinical features of neurofibromatosis type 1, and advocate a multidisciplinary approach to care, entailing a dedicated team of specialists throughout the lifetime of the patient.
Journal ArticleDOI
Soft Tissue Sarcoma
George D. Demetri,Scott Antonia,Robert S. Benjamin,Marilyn M. Bui,Ephraim S. Casper,Ernest U. Conrad,Thomas F. DeLaney,Kristen N. Ganjoo,Martin J. Heslin,Raymond J. Hutchinson,John M. Kane,G. Douglas Letson,Sean V. McGarry,Richard J. O'Donnell,I. Benjamin Paz,John D. Pfeifer,Raphael E. Pollock,R. Lor Randall,Richard F. Riedel,Karen D. Schupak,Herbert S. Schwartz,Katherine Thornton,Margaret von Mehren,Jeffrey D. Wayne +23 more
TL;DR: Soft-tissue sarcomas are a rare group of tumours comprising approximately 1% of all malignant tumours, and conventional management has relied heavily on surgery, but the inadequacy of this approach is reflected by local recurrence rates of 40%–80% in adult Sarcomas and of as high as 90% in childhood sarcoma.
Journal ArticleDOI
Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1
TL;DR: New insights into the pathogenesis of tumours associated with NF1 will lead to a better understanding of tumour origin and development and will hopefully allow the discovery of new and specific treatments.
Journal ArticleDOI
Social skills of children with neurofibromatosis type 1
Belinda Barton,Kathryn N. North +1 more
TL;DR: The previous assumption that NF1 alone is associated with poor social functioning and has major implications for the development of effective interventions is dispelled.
References
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Journal ArticleDOI
Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients
Margaret R. Wallace,Douglas A. Marchuk,Lone B. Andersen,Roxanne Letcher,Hana Odeh,Ann M. Saulino,Jane W. Fountain,Anne Brereton,Jane M. Nicholson,Anna L. Mitchell,Bernard H. Brownstein,Francis S. Collins +11 more
TL;DR: The use of chromosome jumping and yeast artificial chromosome technology has now led to the identification of a large (approximately 13 kilobases) ubiquitously expressed transcript (denoted NF1LT) from this region that is definitely interrupted by one and most likely by both translocations, suggesting that NF1 LT represents the elusive NF1 gene.
Journal ArticleDOI
Von Recklinghausen neurofibromatosis.
TL;DR: A large number of the patients diagnosed with neurofibromatosis are women, and the prognosis is poor for the vast majority of the women diagnosed with the disease.
Journal ArticleDOI
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.
David H. Gutmann,Arthur S. Aylsworth,John C. Carey,Bruce R. Korf,Joan Marks,Reed E. Pyeritz,Allan E. Rubenstein,David Viskochil +7 more
TL;DR: The diagnostic criteria for neurofibromatosis 1 and neurof fibromaatosis 2, recommendations for the care of patients and their families at diagnosis and during routine follow-up, and the role of DNA diagnostic testing in the evaluation of these disorders are determined.
Journal ArticleDOI
A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.
Richard M. Cawthon,Robert B. Weiss,Gangfeng Xu,David Viskochil,Melanie Culver,Jeff Stevens,Margaret Robertson,Diane M. Dunn,Raymond F. Gesteland,Peter O'Connell,Ray White +10 more
TL;DR: The TBR gene is established as the NF1 gene and a description of a major segment of the gene is provided, indicating base pair changes in the gene.
Journal ArticleDOI
Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.
David Viskochil,Arthur M. Buchberg,Gangfeng Xu,Richard M. Cawthon,Jeff Stevens,Roger K Wolff,Melanie Culver,John C. Carey,Neal G. Copeland,Nancy A. Jenkins,Ray White,Peter O'Connell +11 more
TL;DR: These findings strongly suggest that the TBR gene is the NF1 gene, and a number of cDNA clones from the translocation breakpoint region (TBR), one of which hybridizes to an approximately 11 kb mRNA.