Results 221 to 230 of about 38,036,070 (284)

New Approaches to Clinical Trials for Rare Diseases: Decentralized Trial Design for Neurofibromatosis Type 1 and Schwannomatosis. [PDF]

Cancers (Basel)
Merker VL, Ahlawat S, Avery RA, Bradford D, Gross AM, Janusz J, Lessing AJ, Manth L, McManus ML, Oberlander B, Pichard DC, Riter W, Sarin KY, Sheard S, Sundby RT, Walsh KS, Wolters PL, Widemann BC, Plotkin SR.   +18 more
europepmc   +1 more source

Angular Improvement with Bracing Over 7 Years in Anterolateral Tibial Bowing without Neurofibromatosis Type 1: A Case Report. [PDF]

J Orthop Case Rep
Bibiloni-Lugo JP, Luigi-Martínez HE, Salem-Hernández J, Fernández-Perez A, Gonzalez-Ugarte MA, Fernandez-Lopez S.   +5 more
europepmc   +1 more source

Increased Risk of Trichotillomania in Neurofibromatosis Type 1: A Retrospective Cohort Study. [PDF]

Skin Appendage Disord
Golbasi NC, Chalupczak N, Lipner SR.
europepmc   +1 more source

Ruptured A3 segment aneurysm in a patient with neurofibromatosis type 1: a case report and literature review. [PDF]

Front Surg
Xue F, Xie F, Hao J, He S.
europepmc   +1 more source

Circulating Tumor DNA in Neurofibromatosis Type 1: Translating Molecular Discovery into Clinical Surveillance. [PDF]

Diagnostics (Basel)
Vargas JV, Tosello V, Pigato G, Indraccolo S, Chiara F.   +4 more
europepmc   +1 more source

Coexistence of Endodermal Cyst and Neurofibromatosis Type 1: A Case Report. [PDF]

Cureus
Takano K, Inoue Y, Oi Y, Kawajiri T, Hohri T.   +4 more
europepmc   +1 more source

Everyday executive functions in children with neurofibromatosis type 1: Data from nine institutions. [PDF]

Neuropsychology
Zong X, Liu D, Wu X, Wolters PL, Payne JM, Klein-Tasman BP, Walsh KS, Janusz J, Pride N, Morris SM, Bearden CE, Stavinoha PL, Hou Y.   +12 more
europepmc   +1 more source

Rare Association Between Neurofibromatosis Type 1 and Adrenocortical Carcinoma. [PDF]

Clin Case Rep
Pluim Z, Choi JDW, Kakala B, Wong J, Clifton-Bligh R, Sywak M, Howle J.   +6 more
europepmc   +1 more source

Neurofibromatosis type 1

Nature Reviews Disease Primers, 2017
Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis type 1 develop pigmentary lesions (café-au-lait macules, skinfold freckling and Lisch nodules) and dermal neurofibromas.
David H. Gutmann, Rosalie E. Ferner, R. Listernick, Bruce R. Korf, P. Wolters, K. J. Johnson   +5 more
semanticscholar   +4 more sources