Etiology
Plotkin SR,
Messiaen L,
Legius E,
Pancza P,
Avery RA,
Blakeley JO,
Babovic-Vuksanovic D,
Ferner R,
Fisher MJ,
Friedman JM,
Giovannini M,
Gutmann DH,
Hanemann CO,
Kalamarides M,
Kehrer-Sawatzki H,
Korf BR,
Mautner VF,
MacCollin M,
Papi L,
Rauen KA,
Riccardi V,
Schorry E,
Smith MJ,
Stemmer-Rachamimov A,
Stevenson DA,
Ullrich NJ,
Viskochil D,
Wimmer K,
Yohay K;
International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC),
Huson SM,
Wolkenstein P,
Evans DG
Genet Med
2022 Sep;24(9):1967-1977.
Epub 2022 Jun 9
doi: 10.1016/j.gim.2022.05.007.
PMID: 35674741
Jordan JT,
Plotkin SR
Hematol Oncol Clin North Am
2022 Feb;36(1):253-267.
Epub 2021 Oct 27
doi: 10.1016/j.hoc.2021.08.010.
PMID: 34756486
Belakhoua SM,
Rodriguez FJ
Neurosurgery
2021 Feb 16;88(3):443-456.
doi: 10.1093/neuros/nyab021.
PMID: 33588442Free PMC Article
Farschtschi S,
Mautner VF,
McLean ACL,
Schulz A,
Friedrich RE,
Rosahl SK
Dtsch Arztebl Int
2020 May 15;117(20):354-360.
doi: 10.3238/arztebl.2020.0354.
PMID: 32657748Free PMC Article
Cimino PJ,
Gutmann DH
Handb Clin Neurol
2018;148:799-811.
doi: 10.1016/B978-0-444-64076-5.00051-X.
PMID: 29478615
Diagnosis
Plotkin SR,
Messiaen L,
Legius E,
Pancza P,
Avery RA,
Blakeley JO,
Babovic-Vuksanovic D,
Ferner R,
Fisher MJ,
Friedman JM,
Giovannini M,
Gutmann DH,
Hanemann CO,
Kalamarides M,
Kehrer-Sawatzki H,
Korf BR,
Mautner VF,
MacCollin M,
Papi L,
Rauen KA,
Riccardi V,
Schorry E,
Smith MJ,
Stemmer-Rachamimov A,
Stevenson DA,
Ullrich NJ,
Viskochil D,
Wimmer K,
Yohay K;
International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC),
Huson SM,
Wolkenstein P,
Evans DG
Genet Med
2022 Sep;24(9):1967-1977.
Epub 2022 Jun 9
doi: 10.1016/j.gim.2022.05.007.
PMID: 35674741
Tamura R
Int J Mol Sci
2021 May 29;22(11)
doi: 10.3390/ijms22115850.
PMID: 34072574Free PMC Article
Farschtschi S,
Mautner VF,
McLean ACL,
Schulz A,
Friedrich RE,
Rosahl SK
Dtsch Arztebl Int
2020 May 15;117(20):354-360.
doi: 10.3238/arztebl.2020.0354.
PMID: 32657748Free PMC Article
Ly KI,
Blakeley JO
Med Clin North Am
2019 Nov;103(6):1035-1054.
doi: 10.1016/j.mcna.2019.07.004.
PMID: 31582003
Cimino PJ,
Gutmann DH
Handb Clin Neurol
2018;148:799-811.
doi: 10.1016/B978-0-444-64076-5.00051-X.
PMID: 29478615
Therapy
Brown R
Curr Oncol Rep
2023 Dec;25(12):1409-1417.
Epub 2023 Oct 31
doi: 10.1007/s11912-023-01451-z.
PMID: 37906356
Plotkin SR,
Allen J,
Dhall G,
Campian JL,
Clapp DW,
Fisher MJ,
Jain RK,
Tonsgard J,
Ullrich NJ,
Thomas C,
Edwards LJ,
Korf B,
Packer R,
Karajannis MA,
Blakeley JO
Neuro Oncol
2023 Aug 3;25(8):1498-1506.
doi: 10.1093/neuonc/noad066.
PMID: 37010875Free PMC Article
Acar S,
Nieblas-Bedolla E,
Armstrong AE,
Hirbe AC
Pediatr Neurol
2022 Sep;134:1-6.
Epub 2022 Jun 10
doi: 10.1016/j.pediatrneurol.2022.06.003.
PMID: 35759947
Tamura R
Int J Mol Sci
2021 May 29;22(11)
doi: 10.3390/ijms22115850.
PMID: 34072574Free PMC Article
Ullrich NJ
J Child Neurol
2016 Oct;31(12):1399-411.
Epub 2015 Oct 12
doi: 10.1177/0883073815604220.
PMID: 26459515
Prognosis
Brown R
Curr Oncol Rep
2023 Dec;25(12):1409-1417.
Epub 2023 Oct 31
doi: 10.1007/s11912-023-01451-z.
PMID: 37906356
Schraepen C,
Donkersloot P,
Duyvendak W,
Plazier M,
Put E,
Roosen G,
Vanvolsem S,
Wissels M,
Bamps S
Br J Neurosurg
2022 Apr;36(2):171-174.
Epub 2020 Dec 2
doi: 10.1080/02688697.2020.1836323.
PMID: 33263426
Farschtschi S,
Mautner VF,
McLean ACL,
Schulz A,
Friedrich RE,
Rosahl SK
Dtsch Arztebl Int
2020 May 15;117(20):354-360.
doi: 10.3238/arztebl.2020.0354.
PMID: 32657748Free PMC Article
Coy S,
Rashid R,
Stemmer-Rachamimov A,
Santagata S
Acta Neuropathol
2020 Apr;139(4):643-665.
Epub 2019 Jun 4
doi: 10.1007/s00401-019-02029-5.
PMID: 31161239Free PMC Article
Motta M,
Fidan M,
Bellacchio E,
Pantaleoni F,
Schneider-Heieck K,
Coppola S,
Borck G,
Salviati L,
Zenker M,
Cirstea IC,
Tartaglia M
Hum Mol Genet
2019 Mar 15;28(6):1007-1022.
doi: 10.1093/hmg/ddy412.
PMID: 30481304
Clinical prediction guides
Perez-Becerril C,
Evans DG,
Smith MJ
Hum Mutat
2021 Oct;42(10):1187-1207.
Epub 2021 Jul 29
doi: 10.1002/humu.24261.
PMID: 34273915
Halliday D,
Parry A,
Evans DG
Curr Opin Oncol
2019 Nov;31(6):562-567.
doi: 10.1097/CCO.0000000000000579.
PMID: 31425178
Motta M,
Fidan M,
Bellacchio E,
Pantaleoni F,
Schneider-Heieck K,
Coppola S,
Borck G,
Salviati L,
Zenker M,
Cirstea IC,
Tartaglia M
Hum Mol Genet
2019 Mar 15;28(6):1007-1022.
doi: 10.1093/hmg/ddy412.
PMID: 30481304
Agaimy A,
Foulkes WD
Semin Diagn Pathol
2018 May;35(3):193-198.
Epub 2018 Feb 1
doi: 10.1053/j.semdp.2018.01.002.
PMID: 29397238
Batista PB,
Bertollo EM,
Costa Dde S,
Eliam L,
Cunha KS,
Cunha-Melo JR,
Darrigo Junior LG,
Geller M,
Gianordoli-Nascimento IF,
Madeira LG,
Mendes HM,
Miranda DM,
Mata-Machado NA,
Morato EG,
Pavarino ÉC,
Pereira LB,
Rezende NA,
Rodrigues Lde O,
Sette JB
Arq Neuropsiquiatr
2015 Jun;73(6):531-43.
doi: 10.1590/0004-282X20150042.
PMID: 26083891