Results 1 to 10 of about 61,555 (249)

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   +2 more sources

Goblet Cell Carcinoid in a Patient with Neurofibromatosis Type 1: A Rare Combination [PDF]

Case Reports in Gastrointestinal Medicine, 2012
Neuroendocrine tumors are rare tumors primarily located in the gastrointestinal tract. Goblet cell carcinoid is a rare subgroup of neuroendocrine tumors located in the appendix.
Tine Gregersen, Nanna Holt, Henning Gronbaek, Ida Vogel, Lars J. Jørgensen, Klaus Krogh   +5 more
doaj   +2 more sources

Vascular Abnormalties in Neurofibromatosis Type 1

Pediatric Neurology Briefs, 2005
The spectrum of cerebrovascular abnormalities (CVA), including moyamoya, was evaluated in a retrospective chart review of 353 patients with neurofibromatosis type 1 (NF1) seen at the Children’s National Medical Center, Washington, DC, from 1995 to 2003.
J Gordon Millichap
doaj   +2 more sources

Phenotypic characterization of neurofibromatosis type 1 in a large Chinese cohort: A cross-sectional studyCapsule Summary [PDF]

JAAD International
Background: Neurofibromatosis type 1 (NF1) is a multisystemic genetic disorder characterized by NF1 gene mutations. The well-described manifestations of NF1 are primarily derived from European populations.
Zhichao Wang, MD, Xing Hu, MD, PhD, Haoyang Mo, MD, Minxue Shen, PhD, Carlos G. Romo, MD, PhD, Katya Vera, BA, Zhixiong Liu, MD, PhD, Qingfeng Li, MD, PhD, Chuntao Li, MD, PhD, Kavita Y. Sarin, MD, PhD   +9 more
doaj   +2 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

Moyamoya Syndrome, Epilepsy and Hydrocephalus in Neurofibromatosis Type 1 [PDF]

Int J Dev Neurosci
Zhao F, Yue X, Wang G, Zhang H.
europepmc   +3 more sources

A case of solitary digital glomus tumor associated with neurofibromatosis type 1

SAGE Open Medical Case Reports, 2023
An association between glomus tumor and neurofibromatosis type 1 has been reported. It is characterized by multiple tumors and young age at onset. The early diagnosis of neurofibromatosis type 1 is important because it is associated with a high rate of ...
Koichiro Yanai, Tsuyoshi Tajika, Takuro Kuboi, Yuhei Hatori, Takahiro Umeyama, Shinsuke Arisawa, Ayaka Katayama, Takaaki Sano, Hirotaka Chikuda   +8 more
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