Results 11 to 20 of about 33,507 (210)

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

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   +5 more sources

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough? [PDF]

Italian Journal of Pediatrics, 2018
Background Neurofibromatosis type 1 (NF1) is related to a generally increased prevalence of seizures. The mechanism underlying the increased predisposition to seizures has not been fully elucidated. The aim of the study was to evaluate the role of NF1 in
Claudia Santoro, Pia Bernardo, Antonietta Coppola, Umberto Pugliese, Mario Cirillo, Teresa Giugliano, Giulio Piluso, Giuseppe Cinalli, Salvatore Striano, Carmela Bravaccio, Silverio Perrotta   +10 more
doaj   +5 more sources

[Pheochromocytoma in Neurofibromatosis Type 1]. [PDF]

Probl Endokrinol (Mosk)
Neurofibromatosis type 1 is a hereditary disease with a wide variability of clinical manifestations, from the almost complete absence of typical symptoms to a multisystem lesion of the body. One of the possible clinical manifestations of this pathology is a pheochromocytoma — a tumor of the adrenal gland with the possible development of considerable ...
Rebrova DV, Loginova OI, Nepomnyashchaya SL, Bakhtiyarova AR, Rusakov VF, Krasnov LM, Fedorov EA, Chinchuk IK, Shikhmagomedov SS, Imyanitov EN, Kuleshov OV, Alekseev MA, Pridvijkina TS, Savelyeva TV, Semenov AA, Zgoda EA, Chernikov RA, Sleptsov IV.   +17 more
europepmc   +3 more sources

Hemostasis and Type 1 Neurofibromatosis

Plastic and Reconstructive Surgery, Global Open, 2017
Jeremy Niddam, MD, Catherine Matheron, MD, Simone La Padula, MD, Pierre Wolkenstein, MD, PhD, Jean-paul Meningaud, MD, PhD   +4 more
doaj   +4 more sources

Neurofibromatosis type 1 [PDF]

Journal of the American Academy of Dermatology, 2009
Neurofibromatosis type 1 (NF1) is an autosomal dominant, multisystem disorder affecting approximately 1 in 3500 people. Significant advances in the understanding of the pathophysiology of NF1 have been made in the last decade. While no medical therapies for NF1 are currently available, trials are ongoing to discover and test medical treatments for the ...
Kevin P, Boyd, Bruce R, Korf, Amy, Theos
openaire   +3 more sources

Neurofibromatosis type 1 [PDF]

QJM: An International Journal of Medicine, 2018
The neurofibromatoses are a group of three heterogeneous disorders that include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. NF1 is the most common of these three conditions, and represents one of the most frequently diagnosed cancer predisposition disorders involving the nervous system.
T-H, Ho, J-T, Lee, T-C, Liu, J-C, Lin, F-C, Yang   +4 more
openaire   +4 more sources

Guidelines for the Multidisciplinary Diagnosis and Treatment of Neurofibromatosis Type 1(2023 Version)

罕见病研究, 2023
Neurofibromatosis type 1(NF1) is an autosomal dominant hereditary neoplastic disease caused by mutations in the NF1 gene. Features of disorder typically appear in early childhood.
Multidisciplinary Diagnosis and Treatment Collaboration Group for Neurofibromatosis Type 1 of China Alliance for Rare Diseases
doaj   +1 more source

Adrenal incidentaloma in neurofibromatosis type 1 [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2008
INTRODUCTION Neurofibromatosis type 1 is one of the most common genetically transmitted diseases with a high index of spontaneous mutations and extremely varied and unpredictable clinical manifestations.
Tančić-Gajić Milina, Vujović Svetlana, Tatić Svetislav, Stojanović Miloš, Ivović Miomira, Drezgić Milka   +5 more
doaj   +1 more source

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

Orphanet Journal of Rare Diseases, 2020
Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with cutaneous, neurologic, and orthopedic as major manifestations which lead to ...
Christina Bergqvist, Amandine Servy, Laurence Valeyrie-Allanore, Salah Ferkal, Patrick Combemale, Pierre Wolkenstein, NF France Network   +6 more
doaj   +1 more source

Clinical Masks of Neurofibromatosis Type 1

Архивъ внутренней медицины, 2022
Neurofibromatosis type 1 is the most common autosomal dominant tumor syndrome. The prevalence of the disease is 1 in 3000 people. Neurofibromatosis type 1 is characterized by the gradual appearance of signs of the disease and pronounced clinical ...
R. N. Mustafin
doaj   +1 more source