Results 141 to 150 of about 24,332 (187)

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

Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview. [PDF]

Eur J Neurol
Palermo M, Sturiale CL.
europepmc   +1 more source

Aorto-Renal Dysplasia in Childhood: The Overlap of Neurofibromatosis Type 1 and Pediatric Renovascular Hypertension. [PDF]

Curr Hypertens Rep
Singh E, Meyers K, Coleman DM, Ganesh SK.   +3 more
europepmc   +1 more source

Radiation sensitivity in genetic tumour syndromes and how to test for them. [PDF]

Med Genet
Distel LV, Hildebrand LS, Kuhlmann LCF, Vogel RKG.   +3 more
europepmc   +1 more source

Giant malignant peripheral nerve sheath tumor: Illustrative case and surgical technique. [PDF]

Surg Neurol Int
Olivares Peña JL, Santos Franco JA, Olivares Camacho JL, Jimenez-Ponce F, Lara Torres HR, Cuevas Beltrán Z.   +5 more
europepmc   +1 more source

Presentation and Outcomes of CNS Tumors Associated With Phakomatoses Syndromes From a Specialized Neuro-Oncology Practice in India. [PDF]

Cancer Med
Krishnan A, Baviskar Y, Chatterjee A, Dasgupta A, Epari S, Sahu A, Chinnaswamy G, Menon N, Moiyadi A, Gupta T, Sastri-Goda J.   +10 more
europepmc   +1 more source

Selumetinib Treatment in a Neurofibromatosis Type 1 Child With Second Hit Mutation on the NF1 Gene. [PDF]

Int J Dev Neurosci
Su S, Bai Y, Lu Y, Ren Y, Zhang W, Wang G, Ma K, Zhang H.   +7 more
europepmc   +1 more source

Pharmacogenomic Synthetic Lethal Screens Reveal Hidden Vulnerabilities and New Therapeutic Approaches for Treatment of NF1-Associated Tumors. [PDF]

Mol Cancer Ther
Williams KB, Larsson AT, Keller BJ, Chaney KE, Williams RL, Bhunia MM, Draper GM, Jubenville TA, Hudson WA, Georg GI, Moertel CL, Ratner N, Largaespada DA.   +12 more
europepmc   +1 more source

Multifocal Breast Cancer With Discordant Molecular Profiles in a Patient With NF1 and MUTYH Germline Variants: A Case Report. [PDF]

Cureus
Su L, Lu AY, Narasimhamurthy M.
europepmc   +1 more source