Etiology
Duckett KA,
Poupore NS,
Carroll WW,
Pecha PP
Laryngoscope
2024 Jun;134(6):2551-2561.
Epub 2023 Dec 5
doi: 10.1002/lary.31181.
PMID: 38050953Free PMC Article
Frascarelli M,
Padovani G,
Buzzanca A,
Accinni T,
Carlone L,
Ghezzi F,
Lattanzi GM,
Fanella M,
Putotto C,
Di Bonaventura C,
Girardi N,
Pasquini M,
Biondi M,
Di F
Ann Ist Super Sanita
2020 Jan-Mar;56(1):107-113.
doi: 10.4415/ANN_20_01_15.
PMID: 32242542
Zinkstok JR,
Boot E,
Bassett AS,
Hiroi N,
Butcher NJ,
Vingerhoets C,
Vorstman JAS,
van Amelsvoort TAMJ
Lancet Psychiatry
2019 Nov;6(11):951-960.
Epub 2019 Aug 5
doi: 10.1016/S2215-0366(19)30076-8.
PMID: 31395526Free PMC Article
Trevisan P,
Barbosa S,
Sperotto G,
Costi C,
de Omena Filho RL,
Silva AP,
Varella-Garcia M,
Fiegenbaum M,
Rosa RF,
Zen PR
Am J Med Genet A
2015 Jun;167(6):1406-8.
Epub 2015 Apr 21
doi: 10.1002/ajmg.a.36531.
PMID: 25899105
Milczuk HA
Curr Opin Otolaryngol Head Neck Surg
2012 Dec;20(6):522-6.
doi: 10.1097/MOO.0b013e32835873cc.
PMID: 22929115
Diagnosis
Zinkstok JR,
Boot E,
Bassett AS,
Hiroi N,
Butcher NJ,
Vingerhoets C,
Vorstman JAS,
van Amelsvoort TAMJ
Lancet Psychiatry
2019 Nov;6(11):951-960.
Epub 2019 Aug 5
doi: 10.1016/S2215-0366(19)30076-8.
PMID: 31395526Free PMC Article
Solot CB,
Sell D,
Mayne A,
Baylis AL,
Persson C,
Jackson O,
McDonald-McGinn DM
Am J Speech Lang Pathol
2019 Aug 9;28(3):984-999.
Epub 2019 Jul 22
doi: 10.1044/2019_AJSLP-16-0147.
PMID: 31330115Free PMC Article
Trevisan P,
Barbosa S,
Sperotto G,
Costi C,
de Omena Filho RL,
Silva AP,
Varella-Garcia M,
Fiegenbaum M,
Rosa RF,
Zen PR
Am J Med Genet A
2015 Jun;167(6):1406-8.
Epub 2015 Apr 21
doi: 10.1002/ajmg.a.36531.
PMID: 25899105
Rosa RFM,
Rosa RCM,
Krumenauer RCP,
Varella-Garcia M,
Paskulin GA
Braz J Otorhinolaryngol
2011 Jul-Aug;77(4):540.
doi: 10.1590/S1808-86942011000400024.
PMID: 21860987Free PMC Article
Baker K,
Baldeweg T,
Sivagnanasundaram S,
Scambler P,
Skuse D
Biol Psychiatry
2005 Jul 1;58(1):23-31.
doi: 10.1016/j.biopsych.2005.03.020.
PMID: 15935994
Therapy
Gaynor JW,
Moldenhauer JS,
Zullo EE,
Burnham NB,
Gerdes M,
Bernbaum JC,
D'Agostino JA,
Linn RL,
Klepczynski B,
Randazzo I,
Gionet G,
Choi GH,
Karaj A,
Russell WW,
Zackai EH,
Johnson MP,
Gebb JS,
Soni S,
DeBari SE,
Szwast AL,
Ahrens-Nicklas RC,
Drivas TG,
Jacobwitz M,
Licht DJ,
Vossough A,
Nicolson SC,
Spray TL,
Rychik J,
Putt ME
JAMA Netw Open
2024 May 1;7(5):e2412291.
doi: 10.1001/jamanetworkopen.2024.12291.
PMID: 38805228Free PMC Article
Dufournet B,
Nguyen K,
Charles P,
Grabli D,
Jacquette A,
Borg M,
Danaila T,
Mutez E,
Drapier S,
Colin O,
Eusebio A,
Philip N,
Azulay JP
Rev Neurol (Paris)
2017 Jun;173(6):406-410.
Epub 2017 Apr 29
doi: 10.1016/j.neurol.2017.03.021.
PMID: 28461026
Bouajila S,
Chalard A,
Dauphin C
Cardiol Young
2017 Sep;27(7):1406-1409.
Epub 2017 Mar 21
doi: 10.1017/S1047951117000403.
PMID: 28322179
Astor MC,
Løvås K,
Debowska A,
Eriksen EF,
Evang JA,
Fossum C,
Fougner KJ,
Holte SE,
Lima K,
Moe RB,
Myhre AG,
Kemp EH,
Nedrebø BG,
Svartberg J,
Husebye ES
J Clin Endocrinol Metab
2016 Aug;101(8):3045-53.
Epub 2016 May 17
doi: 10.1210/jc.2016-1477.
PMID: 27186861Free PMC Article
Milczuk HA
Curr Opin Otolaryngol Head Neck Surg
2012 Dec;20(6):522-6.
doi: 10.1097/MOO.0b013e32835873cc.
PMID: 22929115
Prognosis
Framme JL,
Lundqvist C,
Lundell AC,
van Schouwenburg PA,
Lemarquis AL,
Thörn K,
Lindgren S,
Gudmundsdottir J,
Lundberg V,
Degerman S,
Zetterström RH,
Borte S,
Hammarström L,
Telemo E,
Hultdin M,
van der Burg M,
Fasth A,
Oskarsdóttir S,
Ekwall O
J Clin Immunol
2022 Apr;42(3):618-633.
Epub 2022 Jan 26
doi: 10.1007/s10875-021-01201-5.
PMID: 35080750Free PMC Article
Trevisan P,
Barbosa S,
Sperotto G,
Costi C,
de Omena Filho RL,
Silva AP,
Varella-Garcia M,
Fiegenbaum M,
Rosa RF,
Zen PR
Am J Med Genet A
2015 Jun;167(6):1406-8.
Epub 2015 Apr 21
doi: 10.1002/ajmg.a.36531.
PMID: 25899105
Gennery AR
Curr Opin Pediatr
2013 Dec;25(6):730-5.
doi: 10.1097/MOP.0000000000000027.
PMID: 24136300
Duijff SN,
Klaassen PW,
Swanenburg de Veye HF,
Beemer FA,
Sinnema G,
Vorstman JA
Res Dev Disabil
2013 Sep;34(9):2937-45.
Epub 2013 Jun 29
doi: 10.1016/j.ridd.2013.06.001.
PMID: 23816629
Baker K,
Baldeweg T,
Sivagnanasundaram S,
Scambler P,
Skuse D
Biol Psychiatry
2005 Jul 1;58(1):23-31.
doi: 10.1016/j.biopsych.2005.03.020.
PMID: 15935994
Clinical prediction guides
Perrot A,
Rickert-Sperling S
Adv Exp Med Biol
2024;1441:505-534.
doi: 10.1007/978-3-031-44087-8_27.
PMID: 38884729
Ge R,
Ching CRK,
Bassett AS,
Kushan L,
Antshel KM,
van Amelsvoort T,
Bakker G,
Butcher NJ,
Campbell LE,
Chow EWC,
Craig M,
Crossley NA,
Cunningham A,
Daly E,
Doherty JL,
Durdle CA,
Emanuel BS,
Fiksinski A,
Forsyth JK,
Fremont W,
Goodrich-Hunsaker NJ,
Gudbrandsen M,
Gur RE,
Jalbrzikowski M,
Kates WR,
Lin A,
Linden DEJ,
McCabe KL,
McDonald-McGinn D,
Moss H,
Murphy DG,
Murphy KC,
Owen MJ,
Villalon-Reina JE,
Repetto GM,
Roalf DR,
Ruparel K,
Schmitt JE,
Schuite-Koops S,
Angkustsiri K,
Sun D,
Vajdi A,
van den Bree M,
Vorstman J,
Thompson PM,
Vila-Rodriguez F,
Bearden CE
Hum Brain Mapp
2024 Jan;45(1):e26553.
doi: 10.1002/hbm.26553.
PMID: 38224541Free PMC Article
Namavar Y,
Duineveld DJ,
Both GIA,
Fiksinski AM,
Vorstman JAS,
Verhoeven-Duif NM,
Zinkstok JR
Am J Med Genet B Neuropsychiatr Genet
2021 Jul;186(5):289-317.
Epub 2021 Jul 24
doi: 10.1002/ajmg.b.32869.
PMID: 34302426
Trevisan P,
Barbosa S,
Sperotto G,
Costi C,
de Omena Filho RL,
Silva AP,
Varella-Garcia M,
Fiegenbaum M,
Rosa RF,
Zen PR
Am J Med Genet A
2015 Jun;167(6):1406-8.
Epub 2015 Apr 21
doi: 10.1002/ajmg.a.36531.
PMID: 25899105
Baker K,
Baldeweg T,
Sivagnanasundaram S,
Scambler P,
Skuse D
Biol Psychiatry
2005 Jul 1;58(1):23-31.
doi: 10.1016/j.biopsych.2005.03.020.
PMID: 15935994