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
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
Strowd RE 3rd
Curr Treat Options Oncol
2020 Aug 7;21(10):81.
doi: 10.1007/s11864-020-00779-z.
PMID: 32767156
Ullrich NJ
J Child Neurol
2016 Oct;31(12):1399-411.
Epub 2015 Oct 12
doi: 10.1177/0883073815604220.
PMID: 26459515
Prognosis
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
Cai C
Semin Diagn Pathol
2021 May;38(3):167-174.
Epub 2021 Mar 15
doi: 10.1053/j.semdp.2021.03.003.
PMID: 33762087
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
Alaidarous A,
Parfait B,
Ferkal S,
Cohen J,
Wolkenstein P,
Mazereeuw-Hautier J
Orphanet J Rare Dis
2019 Aug 22;14(1):207.
doi: 10.1186/s13023-019-1176-4.
PMID: 31438995Free PMC Article
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
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