Results 211 to 220 of about 67,683 (260)

Personalized pharmacokinetic-pharmacodynamic guided therapy via an induced pluripotent stem cell-derived multi-organoid platform in NF1-mutant breast cancer. [PDF]

Signal Transduct Target Ther
Lim JH, Mun SJ, Kang HM, Yu WD, Oh SJ, Lee JY, Son YS, Lee S, Kim DS, Lee J, Kim SJ, Cho HS, Son MJ, Son MY, Jung CR.   +14 more
europepmc   +1 more source

Clinical and Humanistic Burden Among Adults with Neurofibromatosis Type 1 and Symptomatic Plexiform Neurofibroma in the United States. [PDF]

Neurol Ther
Yang X, Done N, Cunnington M, Gao Y, Dettling T, Pfefferkorn J, Young-Xu L, Duh MS, Wolters PL.   +8 more
europepmc   +1 more source

Plexiform neurofibroma (NF1)

, 2009
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Cognitive and autism-like abnormalities are associated with gut microbiome alterations in a mouse model of Neurofibromatosis type I

Hannan A, Reisinger S, de Garde Nv, Kong G, Muhammad A, Lu D, Senthilkumar P, Kiridena P, Gubert C, Dabscheck G, Payne J.   +10 more
europepmc   +1 more source

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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
openaire   +2 more sources

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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Ras signaling and NF1

Current Opinion in Genetics & Development, 1995
The gene responsible for the hereditary disease neurofibromatosis type 1 (NF1) has been well characterized as a regulator of Ras protein activity. Many aspects of the disease seem to be caused by misregulation of Ras as a result of NF1 mutation. Other aspects, however, point at functions for the NF1 protein that have yet to be discovered.
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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