Results 111 to 120 of about 743 (164)

Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar. [PDF]

Cancer Genet
Satish S, Bone M, Ritter D, Plon SE.
europepmc   +1 more source

Determinants of the quality of life of patients with NF2-related schwannomatosis and validation of the Dutch NFTI-QOL questionnaire. [PDF]

Fam Cancer
Tops AL, Goemans D, Aten E, Schopman JE, Koot RW, Gelderblom H, Jansen JC, Hensen EF.   +7 more
europepmc   +1 more source

[⁸⁹Zr]bevacizumab PET/CT imaging of vestibular schwannomas for the prediction of bevacizumab treatment effect in patients with symptomatic <i>NF2</i>-related schwannomatosis: a study protocol for a phase II single centre, prospective, feasibility trial. [PDF]

BMJ Open
Douwes JPJ, Tops AL, Dibbets-Schneider P, Verbist BM, Fuentealba Bassaletti CA, Jansen JC, Koetsier KS, van Dam VS, Koot RW, van Velden FHP, Pool M, Vugts D, Schopman JE, Goeman JJ, De Geus-Oei LF, Hensen EF, Gelderblom H.   +16 more
europepmc   +1 more source

Pharmacological inhibition of RAS pathway alleviates spine deformity in a mouse model of neurofibromatosis type 1. [PDF]

Bone Res
Kovaci F, Goachet C, Perrin S, Slimani L, Coulpier F, Tilotta F, Topilko P, Colnot C.   +7 more
europepmc   +1 more source

A Lesson Learned in Managing Traumatic Cervical Neurofibromatosis Type 1. [PDF]

Cureus
Syed Afandi SFS, Ibrahim R, Mohamad Yunus MR.   +2 more
europepmc   +1 more source

Psychosocial functioning and determinants of the health-related quality of life in children with neurofibromatosis type 1 and cognitive impairments. [PDF]

J Neurooncol
Barton B, Wolters PL, Walsh KS, Ullrich NJ, Rosser T, Tonsgard J, Viskochil D, Schorry E, Klesse LJ, Fisher MJ, Gutmann DH, Packer RJ, Korf B, Acosta MT, North KN, Payne JM, NF Clinical Trials Consortium.   +16 more
europepmc   +1 more source

Mapping the Somatic Mutation Landscape of Familial NF2-Related Schwannomatosis using Whole-Exome Sequencing. [PDF]

Int J Med Sci
Luo F, Jiang L, Pan Y, Li H, Tan J, Wu C, Liu Q.   +6 more
europepmc   +1 more source

Ossification of Mandibular Central Giant Cell Granuloma (CGCG) in Neurofibromatosis Type 1 Patients. [PDF]

Cancer Diagn Progn
Friedrich RE, Kohlrusch FK, Hagel C, Gosau M.   +3 more
europepmc   +1 more source

Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network

Garrett A, Allen S, Rowlands CF, Choi S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Hughes L, Johnston E, Yarram-Smith L, Logan P, Reed L, Snape K, Hanson H, McVeigh T, Turnbull C, CanVIG-UK.   +23 more
europepmc   +1 more source