Results 171 to 180 of about 23,942 (228)

History and clinical epidemiology of NF2-related schwannomatosis. [PDF]

Fam Cancer
Evans DG, Blakeley JO, Plotkin SR.
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

From genes to therapy: navigating the complex landscape of neurofibromatosis management in Canada through advanced diagnostic, targeted therapies, and holistic care. [PDF]

Orphanet J Rare Dis
Zhao VSC.
europepmc   +1 more source

Outcomes following definitive treatment of malignant peripheral nerve sheath tumor are significantly worse for patients with neurofibromatosis type 1: A Canadian Sarcoma Research and Clinical Collaboration study. [PDF]

Cancer
Aubrey RE, Psarianos P, Santiago AT, Griffin AM, Ferguson PC, Gupta AA, Peretz Soroka H, Shultz DB.   +7 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

PERADIGM: Phenotype embedding similarity-based rare disease gene mapping. [PDF]

PLoS Genet
Zheng W, Xie Y, Gu J, Li H, Somlo S, Besse W, Zhao H.   +6 more
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

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

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