Etiology
Genovese A,
Butler MG
Genes (Basel)
2023 Mar 9;14(3)
doi: 10.3390/genes14030677.
PMID: 36980949Free PMC Article
Bhattarai D,
McGinn DE,
Crowley TB,
Giunta V,
Gaiser K,
Zackai EH,
Emanuel BS,
Heimall J,
Jyonouchi S,
Lee J,
Sun D,
McDonald-McGinn DM,
Sullivan KE
J Clin Immunol
2023 May;43(4):794-807.
Epub 2023 Feb 3
doi: 10.1007/s10875-023-01443-5.
PMID: 36735193
Sullivan KE
Immunol Rev
2019 Jan;287(1):186-201.
doi: 10.1111/imr.12701.
PMID: 30565249
Inaba T,
Honda H,
Matsui H
Blood
2018 Jun 28;131(26):2891-2898.
Epub 2018 Apr 3
doi: 10.1182/blood-2017-12-822262.
PMID: 29615405
Chance PF,
Pleasure D
Arch Neurol
1993 Nov;50(11):1180-4.
doi: 10.1001/archneur.1993.00540110060006.
PMID: 8215977
Diagnosis
Pereira E,
Marion R
Pediatr Rev
2018 Jan;39(1):46-49.
doi: 10.1542/pir.2016-0073.
PMID: 29292292
Daber RD,
Conlin LK,
Leonard LD,
Canevini MP,
Vignoli A,
Hosain S,
Brown LW,
Spinner NB
Eur J Med Genet
2012 May;55(5):381-7.
Epub 2012 Feb 22
doi: 10.1016/j.ejmg.2012.02.004.
PMID: 22406087
Phelan MC
Orphanet J Rare Dis
2008 May 27;3:14.
doi: 10.1186/1750-1172-3-14.
PMID: 18505557Free PMC Article
Kondratenko I,
Paschenko O,
Polyakov A,
Bologov A
Adv Exp Med Biol
2007;601:61-7.
doi: 10.1007/978-0-387-72005-0_6.
PMID: 17712992
Yamagishi H
Keio J Med
2002 Jun;51(2):77-88.
doi: 10.2302/kjm.51.77.
PMID: 12125909
Therapy
Butler MG
Int J Mol Sci
2019 Jun 14;20(12)
doi: 10.3390/ijms20122914.
PMID: 31207912Free PMC Article
Buccheri V,
Barreto WG,
Fogliatto LM,
Capra M,
Marchiani M,
Rocha V
Ann Hematol
2018 Dec;97(12):2269-2278.
Epub 2018 Oct 12
doi: 10.1007/s00277-018-3503-6.
PMID: 30315344
Wapner RJ,
Martin CL,
Levy B,
Ballif BC,
Eng CM,
Zachary JM,
Savage M,
Platt LD,
Saltzman D,
Grobman WA,
Klugman S,
Scholl T,
Simpson JL,
McCall K,
Aggarwal VS,
Bunke B,
Nahum O,
Patel A,
Lamb AN,
Thom EA,
Beaudet AL,
Ledbetter DH,
Shaffer LG,
Jackson L
N Engl J Med
2012 Dec 6;367(23):2175-84.
doi: 10.1056/NEJMoa1203382.
PMID: 23215555Free PMC Article
Fenaux P,
Giagounidis A,
Selleslag D,
Beyne-Rauzy O,
Mufti G,
Mittelman M,
Muus P,
Te Boekhorst P,
Sanz G,
Del Cañizo C,
Guerci-Bresler A,
Nilsson L,
Platzbecker U,
Lübbert M,
Quesnel B,
Cazzola M,
Ganser A,
Bowen D,
Schlegelberger B,
Aul C,
Knight R,
Francis J,
Fu T,
Hellström-Lindberg E;
MDS-004 Lenalidomide del5q Study Group
Blood
2011 Oct 6;118(14):3765-76.
Epub 2011 Jul 13
doi: 10.1182/blood-2011-01-330126.
PMID: 21753188
Legare RD,
Gilliland DG
Curr Opin Hematol
1995 Jul;2(4):283-92.
doi: 10.1097/00062752-199502040-00008.
PMID: 9372009
Prognosis
Verrotti A,
Carelli A,
di Genova L,
Striano P
Seizure
2015 Nov;32:78-83.
Epub 2015 Sep 28
doi: 10.1016/j.seizure.2015.09.013.
PMID: 26552569
Cody JD,
Sebold C,
Heard P,
Carter E,
Soileau B,
Hasi-Zogaj M,
Hill A,
Rupert D,
Perry B,
O'Donnell L,
Gelfond J,
Lancaster J,
Fox PT,
Hale DE
Am J Med Genet C Semin Med Genet
2015 Sep;169(3):265-80.
Epub 2015 Aug 3
doi: 10.1002/ajmg.c.31446.
PMID: 26235940
Padron E,
Komrokji R,
List AF
Expert Rev Hematol
2011 Feb;4(1):61-9.
doi: 10.1586/ehm.11.2.
PMID: 21322779
Phelan MC
Orphanet J Rare Dis
2008 May 27;3:14.
doi: 10.1186/1750-1172-3-14.
PMID: 18505557Free PMC Article
Battaglia A,
Carey JC,
Wright TJ
Adv Pediatr
2001;48:75-113.
PMID: 11480768
Clinical prediction guides
Greco M,
Ferrara P,
Farello G,
Striano P,
Verrotti A
Epilepsy Res
2018 Jan;139:92-101.
Epub 2017 Dec 2
doi: 10.1016/j.eplepsyres.2017.11.016.
PMID: 29212048
Daber RD,
Conlin LK,
Leonard LD,
Canevini MP,
Vignoli A,
Hosain S,
Brown LW,
Spinner NB
Eur J Med Genet
2012 May;55(5):381-7.
Epub 2012 Feb 22
doi: 10.1016/j.ejmg.2012.02.004.
PMID: 22406087
Gajecka M,
Mackay KL,
Shaffer LG
Am J Med Genet C Semin Med Genet
2007 Nov 15;145C(4):346-56.
doi: 10.1002/ajmg.c.30154.
PMID: 17918734
Battaglia A,
Carey JC,
Wright TJ
Adv Pediatr
2001;48:75-113.
PMID: 11480768
Slavotinek A,
Shaffer LG,
Shapira SK
J Med Genet
1999 Sep;36(9):657-63.
PMID: 10507720Free PMC Article