Etiology
Planet M,
Kalamarides M,
Peyre M
Curr Opin Oncol
2023 Nov 1;35(6):550-557.
Epub 2023 Sep 1
doi: 10.1097/CCO.0000000000000994.
PMID: 37820090
Goetsch Weisman A,
Weiss McQuaid S,
Radtke HB,
Stoll J,
Brown B,
Gomes A
Am J Med Genet A
2023 Oct;191(10):2467-2481.
Epub 2023 Jul 24
doi: 10.1002/ajmg.a.63346.
PMID: 37485904
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
Ardern-Holmes S,
Fisher G,
North K
J Child Neurol
2017 Jan;32(1):9-22.
Epub 2016 Sep 29
doi: 10.1177/0883073816666736.
PMID: 27655473
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
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
Uhlmann EJ,
Plotkin SR
Adv Exp Med Biol
2012;724:266-77.
doi: 10.1007/978-1-4614-0653-2_20.
PMID: 22411249
Asthagiri AR,
Parry DM,
Butman JA,
Kim HJ,
Tsilou ET,
Zhuang Z,
Lonser RR
Lancet
2009 Jun 6;373(9679):1974-86.
Epub 2009 May 22
doi: 10.1016/S0140-6736(09)60259-2.
PMID: 19476995Free PMC Article
Therapy
Lee TJ,
Chopra M,
Kim RH,
Parkin PC,
Barnett-Tapia C
Orphanet J Rare Dis
2023 Sep 14;18(1):292.
doi: 10.1186/s13023-023-02911-2.
PMID: 37710322Free PMC Article
Tamura R,
Toda M
Int J Mol Sci
2022 May 13;23(10)
doi: 10.3390/ijms23105462.
PMID: 35628268Free PMC Article
Tamura R
Int J Mol Sci
2021 May 29;22(11)
doi: 10.3390/ijms22115850.
PMID: 34072574Free PMC Article
Shalem O,
Sanjana NE,
Hartenian E,
Shi X,
Scott DA,
Mikkelson T,
Heckl D,
Ebert BL,
Root DE,
Doench JG,
Zhang F
Science
2014 Jan 3;343(6166):84-87.
Epub 2013 Dec 12
doi: 10.1126/science.1247005.
PMID: 24336571Free PMC Article
Young TL
Curr Opin Ophthalmol
2003 Oct;14(5):296-303.
doi: 10.1097/00055735-200310000-00011.
PMID: 14502058
Prognosis
Lee TJ,
Chopra M,
Kim RH,
Parkin PC,
Barnett-Tapia C
Orphanet J Rare Dis
2023 Sep 14;18(1):292.
doi: 10.1186/s13023-023-02911-2.
PMID: 37710322Free PMC Article
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
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
Evans DG
Handb Clin Neurol
2015;132:87-96.
doi: 10.1016/B978-0-444-62702-5.00005-6.
PMID: 26564072
Asthagiri AR,
Parry DM,
Butman JA,
Kim HJ,
Tsilou ET,
Zhuang Z,
Lonser RR
Lancet
2009 Jun 6;373(9679):1974-86.
Epub 2009 May 22
doi: 10.1016/S0140-6736(09)60259-2.
PMID: 19476995Free PMC Article
Clinical prediction guides
Pattankar S,
Pasricha P,
Misra BK
Neurol India
2023 Mar-Apr;71(Supplement):S115-S122.
doi: 10.4103/0028-3886.373653.
PMID: 37026342
Halliday D,
Parry A,
Evans DG
Curr Opin Oncol
2019 Nov;31(6):562-567.
doi: 10.1097/CCO.0000000000000579.
PMID: 31425178
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
Shalem O,
Sanjana NE,
Hartenian E,
Shi X,
Scott DA,
Mikkelson T,
Heckl D,
Ebert BL,
Root DE,
Doench JG,
Zhang F
Science
2014 Jan 3;343(6166):84-87.
Epub 2013 Dec 12
doi: 10.1126/science.1247005.
PMID: 24336571Free PMC Article
Consens Statement
1991 Dec 11-13;9(4):1-24.
PMID: 1840823