Etiology
Makashova ES,
Zolotova SV,
Absalyamova OV,
Galkin MV,
Petrokovskaya AV,
Kozlov AV,
Golanov AV
Zh Vopr Neirokhir Im N N Burdenko
2023;87(5):104-109.
doi: 10.17116/neiro202387051104.
PMID: 37830475
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
Sadler KV,
Bowers NL,
Hartley C,
Smith PT,
Tobi S,
Wallace AJ,
King A,
Lloyd SKW,
Rutherford S,
Pathmanaban ON,
Hammerbeck-Ward C,
Freeman S,
Stapleton E,
Taylor A,
Shaw A,
Halliday D,
Smith MJ,
Evans DG
J Med Genet
2021 Apr;58(4):227-233.
Epub 2020 Jun 23
doi: 10.1136/jmedgenet-2020-107022.
PMID: 32576656
Smith MJ
Cancer Genet
2015 Apr;208(4):107-14.
Epub 2015 Feb 19
doi: 10.1016/j.cancergen.2015.02.003.
PMID: 25857641
Jacoby LB,
Jones D,
Davis K,
Kronn D,
Short MP,
Gusella J,
MacCollin M
Am J Hum Genet
1997 Dec;61(6):1293-302.
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PMID: 9399891Free PMC Article
Diagnosis
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
Sadler KV,
Bowers NL,
Hartley C,
Smith PT,
Tobi S,
Wallace AJ,
King A,
Lloyd SKW,
Rutherford S,
Pathmanaban ON,
Hammerbeck-Ward C,
Freeman S,
Stapleton E,
Taylor A,
Shaw A,
Halliday D,
Smith MJ,
Evans DG
J Med Genet
2021 Apr;58(4):227-233.
Epub 2020 Jun 23
doi: 10.1136/jmedgenet-2020-107022.
PMID: 32576656
Ullrich NJ
J Child Neurol
2016 Oct;31(12):1399-411.
Epub 2015 Oct 12
doi: 10.1177/0883073815604220.
PMID: 26459515
Castellanos E,
Bielsa I,
Carrato C,
Rosas I,
Solanes A,
Hostalot C,
Amilibia E,
Prades J,
Roca-Ribas F,
Lázaro C,
Blanco I,
Serra E;
NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC
BMC Med Genomics
2015 Jan 24;8:2.
doi: 10.1186/s12920-015-0076-2.
PMID: 25739810Free PMC Article
Goutagny S,
Kalamarides M
J Neurooncol
2010 Sep;99(3):341-7.
Epub 2010 Aug 17
doi: 10.1007/s11060-010-0339-x.
PMID: 20714782
Therapy
Rivera B,
Nadaf J,
Fahiminiya S,
Apellaniz-Ruiz M,
Saskin A,
Chong AS,
Sharma S,
Wagener R,
Revil T,
Condello V,
Harra Z,
Hamel N,
Sabbaghian N,
Muchantef K,
Thomas C,
de Kock L,
Hébert-Blouin MN,
Bassenden AV,
Rabenstein H,
Mete O,
Paschke R,
Pusztaszeri MP,
Paulus W,
Berghuis A,
Ragoussis J,
Nikiforov YE,
Siebert R,
Albrecht S,
Turcotte R,
Hasselblatt M,
Fabian MR,
Foulkes WD
J Clin Invest
2020 Mar 2;130(3):1479-1490.
doi: 10.1172/JCI130206.
PMID: 31805011Free PMC Article
Kehrer-Sawatzki H,
Kluwe L,
Friedrich RE,
Summerer A,
Schäfer E,
Wahlländer U,
Matthies C,
Gugel I,
Farschtschi S,
Hagel C,
Cooper DN,
Mautner VF
Hum Genet
2018 Jul;137(6-7):543-552.
Epub 2018 Jul 13
doi: 10.1007/s00439-018-1909-9.
PMID: 30006736
Ullrich NJ
J Child Neurol
2016 Oct;31(12):1399-411.
Epub 2015 Oct 12
doi: 10.1177/0883073815604220.
PMID: 26459515
Prognosis
Freier A,
Lawson McLean AC,
Loeschner D,
Rosahl SK,
Kruse J
Sci Rep
2024 Mar 23;14(1):6934.
doi: 10.1038/s41598-024-57401-7.
PMID: 38521834Free PMC Article
Makashova ES,
Zolotova SV,
Absalyamova OV,
Galkin MV,
Petrokovskaya AV,
Kozlov AV,
Golanov AV
Zh Vopr Neirokhir Im N N Burdenko
2023;87(5):104-109.
doi: 10.17116/neiro202387051104.
PMID: 37830475
Sadler KV,
Bowers NL,
Hartley C,
Smith PT,
Tobi S,
Wallace AJ,
King A,
Lloyd SKW,
Rutherford S,
Pathmanaban ON,
Hammerbeck-Ward C,
Freeman S,
Stapleton E,
Taylor A,
Shaw A,
Halliday D,
Smith MJ,
Evans DG
J Med Genet
2021 Apr;58(4):227-233.
Epub 2020 Jun 23
doi: 10.1136/jmedgenet-2020-107022.
PMID: 32576656
Kehrer-Sawatzki H,
Kluwe L,
Friedrich RE,
Summerer A,
Schäfer E,
Wahlländer U,
Matthies C,
Gugel I,
Farschtschi S,
Hagel C,
Cooper DN,
Mautner VF
Hum Genet
2018 Jul;137(6-7):543-552.
Epub 2018 Jul 13
doi: 10.1007/s00439-018-1909-9.
PMID: 30006736
Goutagny S,
Kalamarides M
J Neurooncol
2010 Sep;99(3):341-7.
Epub 2010 Aug 17
doi: 10.1007/s11060-010-0339-x.
PMID: 20714782
Clinical prediction guides
Freier A,
Lawson McLean AC,
Loeschner D,
Rosahl SK,
Kruse J
Sci Rep
2024 Mar 23;14(1):6934.
doi: 10.1038/s41598-024-57401-7.
PMID: 38521834Free PMC Article
Makashova ES,
Zolotova SV,
Absalyamova OV,
Galkin MV,
Petrokovskaya AV,
Kozlov AV,
Golanov AV
Zh Vopr Neirokhir Im N N Burdenko
2023;87(5):104-109.
doi: 10.17116/neiro202387051104.
PMID: 37830475
Sadler KV,
Bowers NL,
Hartley C,
Smith PT,
Tobi S,
Wallace AJ,
King A,
Lloyd SKW,
Rutherford S,
Pathmanaban ON,
Hammerbeck-Ward C,
Freeman S,
Stapleton E,
Taylor A,
Shaw A,
Halliday D,
Smith MJ,
Evans DG
J Med Genet
2021 Apr;58(4):227-233.
Epub 2020 Jun 23
doi: 10.1136/jmedgenet-2020-107022.
PMID: 32576656
Deiller C,
Van-Gils J,
Zordan C,
Tinat J,
Loiseau H,
Fabre T,
Delleci C,
Cohen J,
Vidaud M,
Parfait B,
Goizet C
Eur J Med Genet
2019 Aug;62(8):103680.
Epub 2019 May 22
doi: 10.1016/j.ejmg.2019.103680.
PMID: 31128261
Biegel JA,
Busse TM,
Weissman BE
Am J Med Genet C Semin Med Genet
2014 Sep;166C(3):350-66.
Epub 2014 Aug 28
doi: 10.1002/ajmg.c.31410.
PMID: 25169151Free PMC Article