Results 91 to 100 of about 31,197,963 (238)

Prevalence of NF1 missense mutations and candidate modifier genes in 12 familial and 15 sporadic spinal neurofibromatosis patients

, 2020
Spinal Neurofibromatosis (SNF) is a specific form of Neurofibromatosis type 1 (NF1) characterized by bilateral neurofibromas involving all spinal roots. This feature allows to specifically distinguish SNF from Neurofibromatosis type 1 (NF1), and Multiple
M. Eoli, V. Tritto, M. Marina Melone, C. Schettino, C. Battaglia, V. Saletti, P. Bettinaglio, F. Natacci, R. Bordoni, D. Bianchessi, C. Cesaretti, P. Riva, E. Mangano   +12 more
core   +2 more sources

Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1)

BMC Cancer, 2019
Background NF1(Neurofibromatosis type 1) is an autosomal dominant genetic disorder. Patients with NF1 have an increased risk of developing benign or malignant tumours, such as gastrointestinal stromal tumours (GISTs).
Liang Shang, Zhen Fang, Jin Liu, Fengying Du, Haiyan Jing, Yali Xu, Kangdi Dong, Xiaoman Zhang, Hao Wu, Changqing Jing, Leping Li   +10 more
doaj   +1 more source

Periodontal Disease and Salivary Gland Dysfunction in Neurofibromatosis Type 1: A Case–Control Study

Oral Diseases, EarlyView.
ABSTRACT Objectives Neurofibromatosis type 1 (NF1) presents with diverse systemic and oral manifestations. The aim of this study was to investigate the periodontal status and salivary alterations in NF1 individuals. Methods A total of 38 individuals with NF1 diagnostic criteria were compared with a control group paired by age and sex.
Eloá Borges Luna, Gustavo de Souza Vieira, Flávia Lima Kleinsorgen Motta, Ana Beatriz Oliveira Gambôa, Analúcia Rampazzo Xavier, Rafaela Elvira Rozza‐de‐Menezes, Karin Soares Cunha   +6 more
wiley   +1 more source

Segmental neurofibromatosis and cancer: report of triple malignancy in a woman with mosaic Neurofibromatosis 1 and review of neoplasms in segmental neurofibromatosis [PDF]

, 2016
BackgroundSegmental neurofibromatosis, referred to as mosaic neurofibromatosis 1, patients present with neurofibromas or café au lait macules or both in a unilateral segment of the body.PurposeA woman with segmental neurofibromatosis and triple cancer ...
Cohen, Philip R
core   +1 more source

Familial paragangliomas

Hereditary Cancer in Clinical Practice, 2006
Paragangliomas are rare tumours of the autonomic nervous system and occur in sporadic and hereditary forms. They are usually benign and have a low mortality. However, they cause significant morbidity related to their mass effect.
Lips CJM, Lentjes EGWM, Höppener JWM, Luijt RB, Moll FL   +4 more
doaj   +1 more source

Neurofibromatosis Type 1: Optimizing Management with a Multidisciplinary Approach [PDF]

Shaan Lalvani, Rebecca M Brown Department of Neurology, The Mount Sinai Hospital, New York, NY, USACorrespondence: Rebecca M Brown, MD, PhD, The Mount Sinai Hospital, Department of Neurology, 1216 5th Avenue, New York, NY, 10029, USA, Tel +1 2128248579 ...
Brown RM, Lalvani S
core  

Epilepsy in neurofibromatosis 1

, 2003
Neurofibromatosis 1 is the most common neurocutaneous disease. Neurologic manifestations are mainly represented by tumors such as optic gliomas, focal areas of high T2-weighted signal known as unidentified bright objects, and mental retardation or ...
GROSSO, S., BALESTRI, P., CALABRESE, F., FARNETANI, M., MORGESE, G., DI BARTOLO, R., VIVARELLI, R.   +6 more
core   +1 more source

Loose Anagen Hair Syndrome: A Scoping Review

Pediatric Dermatology, EarlyView.
ABSTRACT Loose anagen hair syndrome (LAHS) is a rare, non‐scarring alopecia that may occur sporadically or follow autosomal dominant inheritance. The objective of this study was to review the etiology, clinical presentation, diagnostic features (including trichoscopy, trichogram, and microscopy), natural history, and treatment outcomes of LAHS.
Romy Shenderey, Hailey Land, Eric McMullen, Daniela Giansante, Grace Xiong, Katya Peri, Raquel Ocvirk, Justin Trasolini, Laurence Mainville, Shireen Dumont, Narachai Julanon, Cathryn Sibbald, Jeffrey Donovan   +12 more
wiley   +1 more source

Neurofibromatosis tipo 1

Ateneo
Introducción: La neurofibromatosis tipo 1 o NF1 pertenece al grupo de las Rasopatías que son un grupo de enfermedades que se caracterizan por mutaciones de los genes que codifican de las vías Ras/MAPK, localizado en el cromosoma 17q11.2, provocando un ...
Javier Aquiles Hidalgo Acosta, Wagnner Ariol Intriago Zambrano, Grace Gabriela Loor Ordóñez, Israel Luis Villavicencio Quevedo, Joanna Patricia Moreno Garzón   +4 more
doaj  

Neurofibromatosis type 2 (NF2) [PDF]

, 2001
Review on Neurofibromatosis type 2 (NF2), with data on clinics, and the genes ...
Gusella, JF
core   +1 more source