Results 11 to 20 of about 30,032,344 (197)

A case of neurofibromatosis type 1 with neurofibromatosis type 1-related and neurofibromatosis type 1-unrelated tumors: a case report

Journal of Medical Case Reports
Background Neurofibromatosis type 1 is an autosomal dominantly inherited disorder caused by pathogenic variants in the neurofibromatosis type 1 gene, resulting in a predisposition to multiple tumors.
Tabea I. Hartung, Qais Karimi, Lan Kluwe, Said C. Farschtschi   +3 more
doaj   +2 more sources

Epidemiological Analysis of Major Complications Requiring Medical Intervention in Patients with Neurofibromatosis 1 [PDF]

Acta Dermato-Venereologica, 2018
Neurofibromatosis 1 has various complications. To elucidate the frequency of neurofibromatosis 1-related major complications requiring medical intervention, a nationwide retrospective study was conducted of 3,530 patients with neurofibromatosis 1 ...
Yuichi Yoshida, Yuko Ehara, Monji Koga, Shinichi Imafuku, Osamu Yamamoto   +4 more
doaj   +2 more sources

Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?

Balkan Medical Journal, 2017
Background: Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder in which the coexistence of autoimmune thyroiditis and thyroid gland tumours has been reported previously.
Serhat Güler, Gözde Yeşil, Hasan Önal   +2 more
doaj   +2 more sources

Neurofibromatosis

Pediatric Neurology Briefs, 1987
LINK (Let’s Increase Neurofibromatosis Knowledge), the British Neurofibromatosis Association, organised a major European Symposium at Egham, Surrey, Feb 5-7, 1987, and clarified the distinguishing features of two syndromes with separate genetic markers ...
J Gordon Millichap
doaj   +2 more sources

Tourette’s Syndrome and Neurofibromatosis 1

Pediatric Neurology Briefs, 2000
A case of Tourette’s syndrome in association with neurofibromatosis 1 is reported in an 11-year-old boy evaluated at the Instituto de Ciencias Neurologicas, Lima, Peru.
J Gordon Millichap
doaj   +2 more sources

Neurofibromatosis segmentaria, a propósito de un caso

, 2022
Introduction: neurofibromatosis is a genetic disorder that affects the growth of neural tissues, with an incidence of 1 in 4 000, with impact on life expectancy due its association with neoplasms and vascular disease.
Dufflart Ocampo, Juan David, Sáenz Corral, Claudia Ileana, Ruiz Gómez, Daniela, Vega Memija, María Elisa, Armendariz Barragán, Yonatan, Toussaint Caire, Sonia   +5 more
core   +1 more source

Active Middle Ear Implant in a Patient with Neurofibromatosis Type 1 and Multiple Calvarial Defects: A Case Report

, 2022
Bony abnormalities, including sphenoid dysplasia and calvarial defects, are well recognized in patients with neurofibromatosis type 1. However, having multiple calvarial defects is rare.
Nakamura, Takeshi, Takeshi Nakamura, Kajihara, Kei, Ganaha, Akira, Keiji Matsuda, Tetsuya Tono, Matsuda, Keiji, Tono, Tetsuya, Akira Ganaha, Kei Kajihara   +9 more
core   +1 more source

Multiple odontogenic cysts in a patient with Neurofibromatosis–Noonan syndrome [PDF]

, 2016
Neurofibromatosis–Noonan syndrome (NFNS) is an uncommon chromosomal disorder showing features of both neurofibromatosis (NF-1) and Noonan syndrome (NS). We encountered a case of NFNS with keratocystic odontogenic tumor and dentigerous cysts.
Tohru Ikeda, Asahina, Izumi, Izumi Asahina, Yamashita, Hiromi, Fujita, Shuichi, Ikeda, Tohru, Shuichi Fujita, Hiromi Yamashita   +7 more
core   +1 more source

Neurofibromatosis Type 1 in Pregnancy [PDF]

, 2006
The report presents two cases of neurofibromatosis type 1 one previously known and one detected during pregnancy. It describes how the disease was detected and diagnosed, and what was the outcome of pregnancies.
Márton, Ingrid, Ingrid Márton, Košec, Vesna, Vesna Košec   +3 more
core   +2 more sources

Reliability of functional outcome measures in adults with neurofibromatosis 1 [PDF]

, 2018
Objectives: To determine intra-rater and inter-rater reliability of functional outcome measures in adults with neurofibromatosis 1 (NF1) and to ascertain how closely objective and subjective measures align.
Williams, V., Ferner, R.E., Rebecca Smith, Thomas, M., Rebecca L Mullin, John F Golding, Mary Thomas, Mullin, R.L., Golding, J.F., Victoria Williams, Rosalie E Ferner, Smith, R.   +11 more
core   +1 more source