Results 11 to 20 of about 55,376 (256)
Voice characteristics in adults with neurofibromatosis type 1 [PDF]
, 2010 Introduction and aims of the study: Change or loss of voice in patients with neurofibromatosis type 1 (NF1) has been associated with head and neck neurofibromas.
Corthals, Paul +4 more
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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
Hypervascular neurofibromas in a case of neurofibromatosis type 1: a case report [PDF]
, 2011 Neurofibromatosis type 1 is one of the most frequently inherited diseases affecting 1:3500 newborn. The diagnosis of Neurofibromatosis type 1 is not dilemmatic because of typical clinical features.
Gogineni, Subhas Babu +1 more
core +1 more source
European Journal of Cancer, 1994 European Journal of Cancer 30 (1994) 1974-1981. doi:10.1016/0959-8049(94)00389-M ; Received by publisher: 0000-01-01 ; Harvest Date: 2016-01-04 12:23:06 ; DOI:10.1016/0959-8049(94)00389-M ; Page Range: 1974 ...
The authors are at the Department of Pediatrics, Division of Genetics, Center for Mammalian Genetics S.W. Archer Road, Box 100296, University of Florida, Gainesville, Florida 32610-0296, U.S.A. ( host institution ) +2 more
openaire +3 more sources
Ocular gamut of neurofibromatosis type 1
Kerala Journal of Ophthalmology, 2023 Background: Neurofibromatosis type 1 (NF1) is a multi-system autosomal dominant disorder affecting 1 in 3000 individuals. The diagnostic criteria of NF1 includes ocular manifestations.
Prathibha Shanthaveerappa +3 more
doaj +1 more source
Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis [PDF]
, 2010 Background Neurofibromatosis type 1 is a common autosomal dominant disorder with full penetrance and variable expression. The condition predisposes individuals to the development of malignant nervous system tumours, most frequently Malignant ...
German Melean +5 more
core +1 more source
Primary adenocarcinoma of the stomach in von Recklinghausen's disease with high serum levels of multiple tumor markers: a case report [PDF]
, 2011 Introduction Gastric tumors in patients affected by neurofibromatosis type 1 are usually carcinoids or stromal tumors, and rarely adenocarcinomas. Case presentation We report a case of an adenocarcinoma of the stomach in a 53-year-old Japanese man with ...
Kazuya Kato +9 more
core +1 more source
Neurofibromatosis type 1: Modeling CNS dysfunction [PDF]
, 2012 Neurofibromatosis type 1 (NF1) is the most common monogenic disorder in which individuals manifest central nervous system (CNS) abnormalities. Affected individuals develop glial neoplasms (optic gliomas, malignant astrocytomas) and neuronal dysfunction ...
Gutmann, David H +3 more
core +2 more sources
Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities. [PDF]
, 2013 Background: Neurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail the brain structural ...
Castelo-Branco, M +3 more
core +1 more source
Bone Manifestations of Neurofibromatosis Type 1
Global Pediatric Health, 2022 Von Recklinghausen disease is the most common phacomatosis. It can affect many systems, including the bone system. Through these 2 cases, we illustrate the bone manifestations of this disease.
Ibrahima Dokal Diallo +7 more
doaj +1 more source