Results 21 to 30 of about 12,566 (189)

A rare case of patient with neurofibromatosis type 1 in a genotype–phenotype correlation revealing a submicroscopic deletion on the long arm of chromosome 17

Clinical Case Reports, 2021
This paper details a case of neurofibromatosis type 1 (NF1) in a genotype–phenotype correlation, and the complexity of pathogenic variants of NF1 gene make correlation difficult. Establishing correlation is useful for targeted therapeutic intervention.
Vityala Yethindra, Tugolbai Tagaev, Elmira Mamytova, Elmira Mainazarova, Cholpon Dzhumakova, Asel Namazbekova   +5 more
doaj   +1 more source

Neurofibromatosis type 1-associated gliomas and other tumors: A new pathway forward?

Pediatric Hematology Oncology Journal, 2023
Neurofibromatosis type 1 (NF1) is an autosomal dominant cancer predisposition syndrome caused by germline alterations of the NF1 gene. Patients with NF1 are at increased risk for developing benign and malignant tumors, such as optic pathway glioma and ...
Andrea Webster Carrion, Amish C. Shah, Chelsea Kotch   +2 more
doaj   +1 more source

Identification of a germline CSPG4 variation in a family with neurofibromatosis type 1-like phenotype

Cell Death and Disease, 2021
Neurofibromatosis type 1 (NF1), an autosomal dominant and multisystem disorder, is generally considered to be caused by NF1 inactivation. However, there are also numerous studies showing that Neurofibromatosis type 1-like phenotype can be caused by the ...
Zhuanli Bai, Yiping Qu, Lin Shi, Xinju Li, Zhen Yang, Meiju Ji, Peng Hou   +6 more
doaj   +1 more source

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene [PDF]

European Journal of Human Genetics, 2000
Segmental neurofibromatosis (NF) is generally thought to result from a postzygotic NF1 (neurofibromatosis type 1) gene mutation. However, this has not yet been demonstrated at the molecular level. Using fluorescence in situ hybridisation (FISH) we identified an NF1 microdeletion in a patient with segmental NF in whom café-au-lait spots and freckles are
S, Tinschert, I, Naumann, E, Stegmann, A, Buske, D, Kaufmann, G, Thiel, D E, Jenne   +6 more
openaire   +2 more sources

Aspects of epileptic seizures in children with neurofibromatosis type 1 [PDF]

Romanian Journal of Neurology, 2013
Objectives. Neurofibromatosis type 1 (NF1) is a multisystem genetic neurocutaneous disease, with an autosomal dominant inheritance, affecting in a various degree the skin, the bones and also the nervous system.
Oana Tarta-Arsene, Diana Barca, Carmen Burloiu, Dana Craiu, Daniela Stoian, Madalina Leanca, Sanda Magureanu   +6 more
doaj   +1 more source

Neurofibromatosis type I (von Recklinghausen′s disease): A family case report and literature review

Dental Research Journal, 2012
The term neurofibromatosis (NF) is used for a group of genetic disorders that primarily affect the cell growth of neural tissues. Neurofibromatosis type 1 (NF1), also known as von Recklinghausen′s disease, is the most common type of NF, and accounts for ...
Parichehr Ghalayani, Zahra Saberi, Farimah Sardari   +2 more
doaj   +1 more source

Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1

Molecular Genetics & Genomic Medicine, 2019
Background Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with equal sex incidence that is characterized by neurofibromas, café‐au‐lait macules, axillary freckling, optic pathway tumor, distinctive osseous lesion, and iris Lisch nodules.
Linlin Chen, Feng Xue, Jia Xu, Jinwei He, Wenzhen Fu, Zhenlin Zhang, Qinglin Kang   +6 more
doaj   +1 more source

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, Nithisha Tegginamatha, Neethu Narayan Rao, Suyog Ajjampur Suryaprakash   +3 more
doaj   +1 more source

Neurofibromin regulates metabolic rate via neuronal mechanisms in Drosophila

Nature Communications, 2021
Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in neurofibromin and associated with disruptions in physiology and behavior. Here the authors show that neurofibromin regulates metabolic homeostasis via a discrete brain circuit in
Valentina Botero, Bethany A. Stanhope, Elizabeth B. Brown, Eliza C. Grenci, Tamara Boto, Scarlet J. Park, Lanikea B. King, Keith R. Murphy, Kenneth J. Colodner, James A. Walker, Alex C. Keene, William W. Ja, Seth M. Tomchik   +12 more
doaj   +1 more source

The Spectrum of NF1 Mutations in Korean Patients with Neurofibromatosis Type 1 [PDF]

Journal of Korean Medical Science, 2006
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders in humans. NF1 is caused by mutations in the NF1 gene which consists of 57 exons and encodes a GTPase activating protein (GAP), neurofibromin. To date, more than 640 different NF1 mutations have been identified and registered in the Human Gene Mutation Database (HGMD).
Jeong, Seon-Yong, Park, Sang-Jin, Kim, Hyon J.   +2 more
openaire   +2 more sources