Results 11 to 20 of about 15,366 (199)
Mouse Models of Neurofibromatosis 1 and 2
Neoplasia: An International Journal for Oncology Research, 2002 The neurofibromatoses represent two of the most common inherited tumor predisposition syndromes affecting the nervous system. Individuals with neurofibromatosis 1 (NF1) are prone to the development of astrocytomas and peripheral nerve sheath tumors ...
David H. Gutmann, Marco Giovannini
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Learning disability and oligodendrocyte myelin glycoprotein (OMGP) gene in neurofibromatosis type 1
The Turkish Journal of Pediatrics, 2011 Neurofibromatosis type 1 (NF1) is an autosomal dominant disease where phenotypic heterogeneity is explained by the effect of modifier genes. Thirty to 65% of patients have learning disability.
Yunus Kasim Terzi +4 more
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Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report
European Journal of Breast Health, 2017 Neurofibromatosis type 1 (NF1) is autosomal dominant and it is the most common hereditary disease. This case report is about a woman and her daughter. Both of them are NF1 and mother also has metachronous bilateral breast carcinoma.
Duygu Dursun +3 more
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Structural and functional peculiarities of spine deformity development in neurofibromatosis NF-1
Бюллетень сибирской медицины, 2010 To study pathogenetic mechanisms of the development of spinal deformity in neurofibromatosis.Structural components of the spine were presented as specimens obtained after surgical correction of spinal deformity performed in 10 children with III—IV grade ...
A. M. Zaidman +4 more
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Neurofibromatosis type 1 (NF1) [PDF]
, 2006 Review on Neurofibromatosis type 1 (NF1), with data on clinics, and the genes ...
Wimmer, K
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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
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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
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Neurofibromatosis type 1 (NF1) [PDF]
, 1997 Review on Neurofibromatosis type 1 (NF1), with data on clinics, and the genes ...
Huret, JL
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The Role of Co-Deleted Genes in Neurofibromatosis Type 1 Microdeletions: an Evolutive Approach [PDF]
, 2019 Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome that results from dominant loss-of-function mutations mainly in the NF1 gene. Large rearrangements are present in 5–10% of affected patients, generally encompass NF1 neighboring genes ...
Reis, Larissa Brussa +4 more
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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
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