Results 21 to 30 of about 1,567,257 (239)

A Case for Gastrointestinal Specific Polyps in Neurofibromatosis Type I [PDF]

Gastro Hep Advances
Neurofibromatosis type I (NF-1) is a common, autosomal dominant tumor syndrome whose diagnostic criteria consists of neuro-ophthalmologic, dermatologic, and/or osseous findings with concomitant genetic testing.
Jonathan Rozenberg, Adil Mir, Klaus Mönkemüller, Bara El Kurdi, Douglas Grider   +4 more
doaj   +2 more sources

Neurofibromatosis type I (NF1) and bone involvement in a pediatric setting: insights from FGF23 levels [PDF]

Italian Journal of Pediatrics
Background Neurofibromatosis type I (NF1) is an autosomal dominant disorder characterized by extremely different phenotypes, sometimes including reduced bone mass.
Giulia Rodari, Valeria Citterio, Masami Ikehata, Deborah Mattinzoli, Giulietta Scuvera, Federico Grilli, Eriselda Profka, Federico Giacchetti, Valentina Collini, Alessandro Risio, Claudia Cesaretti, Federica Natacci, Carlo Alfieri, Giovanna Mantovani, Claudia Giavoli   +14 more
doaj   +2 more sources

Early presentation of neurofibromatosis type I patient with clitoromegaly and café au lait spots: A case report [PDF]

Radiology Case Reports, 2022
Neurofibromatosis is a rare genetic disorder that typically affects the nerves and causes benign tumors. It also affects different parts of the body, including the bone, skin, and genitourinary system. We report a case of a 6-year-old girl medically free
Ayman Khushaim, MD, Atheer Albaradi, MD, Abdulrahman Alsalim, MD   +2 more
doaj   +2 more sources

Bioethical aspects in type I neurofibromatosis [PDF]

Romanian Journal of Pediatrics, 2021
Type I neurofibromatosis is one of the most common monogenic disorders, being caused by abnormalities of the neurofibromin gene on chromosome 17. About half of the cases are inherited, respecting the autosomal dominant inheritance criteria, the rest are ...
Codruta Diana Petchesi, Gabriela Ciavoi, Claudia Jurca, Romana Vulturar, Marius Bembea   +4 more
doaj   +1 more source

Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I

Genes, Chromosomes and Cancer, 2021
Neurofibromatosis type I, a genetic condition due to pathogenic variants in the NF1 gene, is burdened by a high rate of complications, including neoplasms, which increase morbidity and mortality for the disease.
M. Riva, D. Martorana, V. Uliana, E. Caleffi, E. Boschi, L. Garavelli, G. Ponti, L. Sangiorgi, C. Graziano, S. Bigoni, L. Rocchetti, S. Madeo, F. Soli, E. Grosso, D. Carli, M. Goldoni, F. Pisani, A. Percesepe   +17 more
semanticscholar   +1 more source

Facial Plexiform Neurofibromatosis Type I

Bengal Journal of Otolaryngology and Head Neck Surgery, 2020
Introduction  Plexiform neurofibroma is a benign tumor of peripheral nerves arising from a proliferation of all neural elements. Clinically, it presents as a subcutaneous mass which feels like a "bag of worms".
Bapan Devnath, Debraj Dey, Avinava Ghosh
doaj   +1 more source

A CASE OF NEUROFIBROMATOSIS TYPE 1 [PDF]

Journal of IMAB, 2008
Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuroectodermal tumors arising within multiple organs and autosomal-dominant inheritance.
Valentina Dimitrova, Ivelina Yordanova, Verka Pavlova, Valentin Valtchev, Dimitar Gospodinov, Boryana Parashkevova, Chavdar Balabanov   +6 more
doaj   +1 more source

A case of a patient with neurofibromatosis type I who developed pneumothorax and eosinophilic pleural effusion after suffering from COVID-19 pneumonia

Radiology Case Reports, 2021
Coronavirus disease 2019 (COVID-19) has become a global pandemic since its discovery in December 2019, and as the disease continues to evolve, varying complications associated with it continue to arise.
Ikuo Wakamatsu, Masakiyo Yatomi, S. Uno, Yuko Oishi, H. Ikeuchi, Chiharu Hanazato, Yuri Sawada, Haruka Saito, K. Yamaguchi, N. Kasahara, Y. Miura, H. Tsurumaki, Kenichiro Hara, Yasuhiko Koga, N. Sunaga, T. Hisada, K. Hiromura, T. Maeno   +17 more
semanticscholar   +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

Association between pheochromocytoma and neurofibromatosis type I: a rare entity in the African population

BMJ Case Reports, 2021
The association of pheochromocytoma in patients with neurofibromatosis type I has rarely been reported in low-income countries, especially on the African continent.
B. Jackson, M. de Villiers, D. Montwedi
semanticscholar   +1 more source