Results 131 to 140 of about 26,437 (217)

The benefits of exploiting rare genetic disorders to better understand human health and disease [PDF]

, 2016
Tee, Andrew
core   +2 more sources

Identification of small molecules that enhance aminoglycoside-mediated suppression of <i>CFTR</i> and <i>NF1</i> nonsense mutations. [PDF]

Mol Ther Oncol
Sammons J, Chen J, Thrasher K, Fu L, Du M, Wen H, Bostwick JR, Vinson P, Moukha-Chafiq O, Augelli-Szafran C, Keeling KM, Wallis D, Kesterson RA, Rowe SM, Bedwell DM.   +14 more
europepmc   +1 more source

Neurofibromin

, 2018
Jeremy Jones, Daniel Bell
openaire   +1 more source

Evidence of perturbations of cell cycle and DNA repair pathways as a consequence of human and murine NF1-haploinsufficiency [PDF]

, 2010
Alexander Pemov, Caroline Park, Karlyne M Reilly, Douglas R Stewart   +3 more
core   +1 more source

Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas. [PDF]

PLoS One
Li H, Pemov A, Allaway R, Muir DF, Chang LJ, Banerjee J, Scott AJ, Nagy JMW, Liu J, Carrió M, Mazuelas H, Yachnis A, Lee SY, Zhang X, Lyu Y, Stewart DR, Hirbe A, Blakeley JO, Serra E, Wallis D, Wallace MR.   +20 more
europepmc   +1 more source

Ataluren-Induced Functional Restoration of Neurofibromin in Fibroblasts From Neurofibromatosis Type 1 Patients With Nonsense Mutations. [PDF]

MedComm (2020)
Kim S, Do H, Heo SH, Kang M, Hwang S, Kim D, Chang MH, Kim K, Lee BH.   +8 more
europepmc   +1 more source

Pathology in Practice [PDF]

, 2017
Lofts, R, Priestnall, S L, Summers, B A, Terry, R   +3 more
core   +1 more source

Neurovascular Issues in Neurofibromatosis Type I: Focus on Intracranial Stenosis. [PDF]

Life (Basel)
Zedde M, Pascarella R.
europepmc   +1 more source

Neurofibromatosis Type 1: Genetic Mechanisms and Advances in Therapeutic Innovation. [PDF]

Cancers (Basel)
Lu Y, Xu M, Chen X, Xu H, Sun N, Weisgerber KE, Bai RY.   +6 more
europepmc   +1 more source

High Allelic Heterogeneity in Kazakhstani Patients with Neurofibromatosis Type 1: Results from the First Molecular Study. [PDF]

Genes (Basel)
Idrissova Z, Rakhimbekova F, Orazgaliyeva M, Zhaksybek M, Kovaleva K, Abdikerim S, Ormankyzy A, Vasiluev P.   +7 more
europepmc   +1 more source