Results 171 to 180 of about 33,733 (216)

Utility of 18F-FDG PET/CT in the Surveillance of Patients With Neurofibromatosis Type 1. [PDF]

Neurol Genet
Tanase MG, Djilani L, Lamontagne R, Derbel R, Baril M, Roy V, Blais M, Buteau FA, Khuong HT, Gros-Louis F, Leclerc M, Dupre N.   +11 more
europepmc   +1 more source

Manual volumetric segmentation of brain hyperintensities on T2-weighted imaging (T2WI) and fluid-attenuated inversion recovery (FLAIR) sequences in children with neurofibromatosis type 1: inter-rater reliability and clinical correlates. [PDF]

Quant Imaging Med Surg
Zhu H, Tang Y, Dai X, Jiang M, Ming S, Cheng P, Zhang W, Wang B, Li J, Liu Y, Wei W.   +10 more
europepmc   +1 more source

Neurofibromatosis type 1 with bladder neurofibroma followed by retroperitoneal malignant peripheral nerve sheath tumor: a case report. [PDF]

Urol Case Rep
Ishii N, Yamamoto H, Kobayashi T, Hamaya T, Kodama H, Fujita N, Okamoto T, Hirabayashi T, Hatakeyama S.   +8 more
europepmc   +1 more source

Comparison of Early Response to Selumetinib Therapy in Adolescents and Children With NF1-related Plexiform Neurofibromas. [PDF]

In Vivo
Styczyńska J, Marjańska A, Jatczak-Gaca A, Karwacki M, Walenciak J, Garus K, Bilska K, Mizia-Malarz A, Badowska W, Sławińska D, Węcławek-Tompol J, Chaber R, Bień E, Jezierska M, Karolczyk G, Skalska-Sadowska J, Styczyński J.   +16 more
europepmc   +1 more source

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Immunohistochemical NF1 Analysis Does not Predict NF1 Gene Mutation Status in Pheochromocytoma

Endocrine Pathology, 2014
Pheochromocytomas (PCCs) are tumors originating from the adrenal medulla displaying a diverse genetic background. While most PCCs are sporadic, about 40 % of the tumors have been associated with constitutional mutations in one of at least 14 known susceptibility genes.
Adam Stenman, Fredrika Svahn, Jenny Welander   +2 more
exaly   +3 more sources

NF1 gene mutations in Japanese with neurofibromatosis 1 (NF1)

Biochemical and Biophysical Research Communications, 1995
Neurofibromatosis 1 (NF1) is an autosomal dominant disease characterized by abnormalities in multiple tissues derived from the neural crest. We analysed 50 unrelated Japanese patients for NF1 mutations by using polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis for exons 28 to 36.
N, Hatta, T, Horiuchi, I, Watanabe, Y, Kobayashi, Y, Shirakata, H, Ohtsuka, T, Minami, K, Ueda, T, Kokoroishi, S, Fujita   +9 more
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Phenotypic characterization of transgenic mice harboring Nf1^+/− or Nf1^−/− osteoclasts in otherwise Nf1^+/+ background

Journal of Cellular Biochemistry, 2012
AbstractSkeletal abnormalities in neurofibromatosis type 1 syndrome (NF1) are observed in ∼50% of patients. Here, we describe the phenotype of Nf1Ocl mouse model with Nf1‐deficient osteoclasts. Nf1Ocl mice with Nf1+/− or Nf1−/− osteoclasts in otherwise Nf1+/+ background were successfully generated by mating parental Nf1flox/flox and TRAP‐Cre mice ...
Alanne, MH, Siljamäki E, Peltonen, S, Väänänen K, Windle, JJ, Parada, LF, Määttä JA, Peltonen, J   +7 more
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Allelic Loss of the NF1 Gene in NF1-Associated Plexiform Neurofibromas

Cancer Genetics and Cytogenetics, 1999
Neurofibromatosis 1 (NF1) is an autosomal dominant disorder with a complex variety of clinical symptoms. Genetic alteration of the NF1 gene on 17q11.2 is the disease. Neurofibromas of the peripheral nervous system are one main manifestation. A variant of neurofibroma is the plexiform neurofibroma which can be found in about 30% of NF1-patients, often ...
L, Kluwe, R E, Friedrich, V F, Mautner
openaire   +2 more sources

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1‐Noonan syndromes

American Journal of Medical Genetics Part A, 2007
To the Editor:Noonan syndrome (NS) and LEOPARD syndrome(LS) are clinically recognizable developmentaldisorders with overlapping features. NS patientstypically display short stature, facial dysmorphisms,low-set and posteriorly rotated ears, short andwebbedneck,thoracicandotherskeletalanomalies,cryptorchidism, and congenital heart defects (CHD)[Allanson,
SARKOZY A, SCHIRINZI A, LEPRI F, BOTTILLO I, DE LUCA A, PIZZUTI, Antonio, TARTAGLIA M, DIGILIO MC, DALLA PICCOLA, Bruno   +8 more
openaire   +3 more sources