Results 21 to 30 of about 30,899,280 (234)
Neuroibromatosis tipo l: relación genotipo-fenotipo
Acta Neurológica Colombiana, 2020 INTRODUCCIÓN: La neurofibromatosis (enfermedad de von Recklinghausen) es una enfermedad autosómica dominante que presenta principalmente manifestaciones cutáneas y neurológicas.
Mariana Teresa Gómez-López +3 more
doaj +1 more source
Neurofibromatosis segmentaria, a propósito de un caso
, 2022 Introduction: neurofibromatosis is a genetic disorder that affects the growth of neural tissues, with an incidence of 1 in 4 000, with impact on life expectancy due its association with neoplasms and vascular disease.
Dufflart Ocampo, Juan David +5 more
core +1 more source
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 +6 more
doaj +1 more source
Evaluation of Neurofibromatosis Gene Expression in Non-Hereditary Breast Cancer
Novelty in Biomedicine, 2023 Background: Breast cancer is the most common cause of death in women. Studies have shown that changes in neurofibromatosis gene expression can cause breast cancer.
Mahsa Kavousi +3 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 +6 more
openaire +2 more sources
Neurofibromatosis type 1 (NF1) [PDF]
, 1997 Review on Neurofibromatosis type 1 (NF1), with data on clinics, and the genes ...
Huret, JL
core +1 more source
Myelomonocytic leukaemia (JMML) in a child with intellectual disability and chromosome 4q deletion
Pediatric Hematology Oncology Journal, 2021 JMML is a rare aggressive type of leukaemia seen in children. It is often seen with syndromes such as Noonan, and neurofibromatosis type 1. Rarely it can be a sporadic event.
Harsha Prasada Lashkari +3 more
doaj +1 more source
Genomic organization of the neurofibromatosis 1 gene (NF1)
Genomics, 1995 Neurofibromatosis 1 maps to chromosome band 17q11.2, and the NF1 locus has been partially characterized. Even though the full-length NF1 cDNA has been sequenced, the complete genomic structure of the NF1 gene has not been elucidated. The 5' end of NF1 is embedded in a CpG island containing a NotI restriction site, and the remainder of the gene lies in ...
Y, Li +9 more
openaire +2 more sources
Neurofibromatosis type 1 (NF1) [PDF]
, 2006 Review on Neurofibromatosis type 1 (NF1), with data on clinics, and the genes ...
Wimmer, K
core +1 more source
Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1
Frontiers in Neurology, 2021 Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disorder that directly affects more than 1 in 3,000 individuals worldwide. It results from mutations of the NF1 gene and shows almost complete penetrance.
Wei Wang +7 more
doaj +1 more source