Etiology
Wang A,
Nixon T,
Martin H,
Richards A,
McNinch A,
Alexander P,
Pujari R,
Bale P,
Shenker N,
Bearcroft P,
Brown S,
Blackwell A,
Poulson A,
Snead M
Arch Dis Child
2023 Oct;108(10):789-791.
Epub 2023 Mar 7
doi: 10.1136/archdischild-2022-325059.
PMID: 36882306
Van Esch B,
van der Zaag-Loonen H,
Bruintjes T,
van Benthem PP
Audiol Neurootol
2022;27(1):1-33.
Epub 2021 Jul 7
doi: 10.1159/000515821.
PMID: 34233329
Gao FJ,
Wang DD,
Chen F,
Sun HX,
Hu FY,
Xu P,
Li J,
Liu W,
Qi YH,
Li W,
Wang M,
Zhang S,
Xu GZ,
Chang Q,
Wu JH
Br J Ophthalmol
2021 Jan;105(1):87-92.
Epub 2020 Mar 18
doi: 10.1136/bjophthalmol-2020-315878.
PMID: 32188678Free PMC Article
de Geus CM,
Free RH,
Verbist BM,
Sival DA,
Blake KD,
Meiners LC,
van Ravenswaaij-Arts CMA
Am J Med Genet C Semin Med Genet
2017 Dec;175(4):450-464.
Epub 2017 Nov 23
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Catalani S,
Rizzetti MC,
Padovani A,
Apostoli P
Hum Exp Toxicol
2012 May;31(5):421-37.
Epub 2011 Jul 5
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PMID: 21729976
Diagnosis
Ferrada MA,
Sikora KA,
Luo Y,
Wells KV,
Patel B,
Groarke EM,
Ospina Cardona D,
Rominger E,
Hoffmann P,
Le MT,
Deng Z,
Quinn KA,
Rose E,
Tsai WL,
Wigerblad G,
Goodspeed W,
Jones A,
Wilson L,
Schnappauf O,
Laird RS,
Kim J,
Allen C,
Sirajuddin A,
Chen M,
Gadina M,
Calvo KR,
Kaplan MJ,
Colbert RA,
Aksentijevich I,
Young NS,
Savic S,
Kastner DL,
Ombrello AK,
Beck DB,
Grayson PC
Arthritis Rheumatol
2021 Oct;73(10):1886-1895.
Epub 2021 Aug 31
doi: 10.1002/art.41743.
PMID: 33779074
Gao FJ,
Wang DD,
Chen F,
Sun HX,
Hu FY,
Xu P,
Li J,
Liu W,
Qi YH,
Li W,
Wang M,
Zhang S,
Xu GZ,
Chang Q,
Wu JH
Br J Ophthalmol
2021 Jan;105(1):87-92.
Epub 2020 Mar 18
doi: 10.1136/bjophthalmol-2020-315878.
PMID: 32188678Free PMC Article
Sauma J,
Rivera D,
Wu A,
Donate-Lopez J,
Gallego-Pinazo R,
Chilov M,
Wu M,
Wu L
Br J Ophthalmol
2020 Sep;104(9):1190-1195.
Epub 2020 Feb 6
doi: 10.1136/bjophthalmol-2019-315597.
PMID: 32029433
Koyanagi Y,
Akiyama M,
Nishiguchi KM,
Momozawa Y,
Kamatani Y,
Takata S,
Inai C,
Iwasaki Y,
Kumano M,
Murakami Y,
Omodaka K,
Abe T,
Komori S,
Gao D,
Hirakata T,
Kurata K,
Hosono K,
Ueno S,
Hotta Y,
Murakami A,
Terasaki H,
Wada Y,
Nakazawa T,
Ishibashi T,
Ikeda Y,
Kubo M,
Sonoda KH
J Med Genet
2019 Oct;56(10):662-670.
Epub 2019 Jun 17
doi: 10.1136/jmedgenet-2018-105691.
PMID: 31213501
Doshi DC,
Limdi PK,
Parekh NV,
Gohil NR
Indian J Ophthalmol
2016 Mar;64(3):227-30.
doi: 10.4103/0301-4738.180191.
PMID: 27146935Free PMC Article
Therapy
Alehashemi S,
Dasari S,
Metpally A,
Uss K,
Castelo-Soccio LA,
Heller T,
Kellman P,
Chen MY,
Ahlman M,
Kim J,
Wargo S,
Kuhns DB,
Fink D,
de Jesus A,
Martin PS,
Chang R,
Bolanos J,
Lee CR,
Nasr SH,
Goldbach-Mansky R,
McPhail E
Arthritis Rheumatol
2024 Jan;76(1):100-106.
Epub 2023 Nov 29
doi: 10.1002/art.42664.
PMID: 37488949Free PMC Article
Fennessy JR,
Cornett KMD,
Burns J,
Menezes MP
J Peripher Nerv Syst
2023 Sep;28(3):308-316.
Epub 2023 Aug 24
doi: 10.1111/jns.12587.
PMID: 37537696
Van Esch B,
van der Zaag-Loonen H,
Bruintjes T,
van Benthem PP
Audiol Neurootol
2022;27(1):1-33.
Epub 2021 Jul 7
doi: 10.1159/000515821.
PMID: 34233329
Ferrada MA,
Sikora KA,
Luo Y,
Wells KV,
Patel B,
Groarke EM,
Ospina Cardona D,
Rominger E,
Hoffmann P,
Le MT,
Deng Z,
Quinn KA,
Rose E,
Tsai WL,
Wigerblad G,
Goodspeed W,
Jones A,
Wilson L,
Schnappauf O,
Laird RS,
Kim J,
Allen C,
Sirajuddin A,
Chen M,
Gadina M,
Calvo KR,
Kaplan MJ,
Colbert RA,
Aksentijevich I,
Young NS,
Savic S,
Kastner DL,
Ombrello AK,
Beck DB,
Grayson PC
Arthritis Rheumatol
2021 Oct;73(10):1886-1895.
Epub 2021 Aug 31
doi: 10.1002/art.41743.
PMID: 33779074
Catalani S,
Rizzetti MC,
Padovani A,
Apostoli P
Hum Exp Toxicol
2012 May;31(5):421-37.
Epub 2011 Jul 5
doi: 10.1177/0960327111414280.
PMID: 21729976
Prognosis
da Costa Monsanto R,
Knoll RM,
de Oliveira Penido N,
Song G,
Santos F,
Paparella MM,
Cureoglu S
Otolaryngol Head Neck Surg
2022 Feb;166(2):363-372.
Epub 2021 Apr 20
doi: 10.1177/01945998211008911.
PMID: 33874787
Gao FJ,
Wang DD,
Chen F,
Sun HX,
Hu FY,
Xu P,
Li J,
Liu W,
Qi YH,
Li W,
Wang M,
Zhang S,
Xu GZ,
Chang Q,
Wu JH
Br J Ophthalmol
2021 Jan;105(1):87-92.
Epub 2020 Mar 18
doi: 10.1136/bjophthalmol-2020-315878.
PMID: 32188678Free PMC Article
Hardy TA,
Taylor RL,
Qiu J,
O'Brien B,
Gopinath S,
Trewin B,
Spring PJ,
Shaffi M,
Bolitho SJ,
Garsia RJ,
Roxburgh R,
Mason DF,
Ip J,
Chan F,
Chen L,
Wilson I,
Beadnall HN,
Barnett MH,
Parratt JDE,
Watson JDG,
Welgampola MS,
Reddel SW,
Tsang B,
Halmagyi GM
J Neurol
2020 Dec;267(12):3711-3722.
Epub 2020 Jul 21
doi: 10.1007/s00415-020-10086-0.
PMID: 32696340
Kunishima S,
Saito H
Curr Opin Hematol
2010 Sep;17(5):405-10.
doi: 10.1097/MOH.0b013e32833c069c.
PMID: 20601875
Nance WE
Ment Retard Dev Disabil Res Rev
2003;9(2):109-19.
doi: 10.1002/mrdd.10067.
PMID: 12784229
Clinical prediction guides
Wang A,
Nixon T,
Martin H,
Richards A,
McNinch A,
Alexander P,
Pujari R,
Bale P,
Shenker N,
Bearcroft P,
Brown S,
Blackwell A,
Poulson A,
Snead M
Arch Dis Child
2023 Oct;108(10):789-791.
Epub 2023 Mar 7
doi: 10.1136/archdischild-2022-325059.
PMID: 36882306
Ferrada MA,
Sikora KA,
Luo Y,
Wells KV,
Patel B,
Groarke EM,
Ospina Cardona D,
Rominger E,
Hoffmann P,
Le MT,
Deng Z,
Quinn KA,
Rose E,
Tsai WL,
Wigerblad G,
Goodspeed W,
Jones A,
Wilson L,
Schnappauf O,
Laird RS,
Kim J,
Allen C,
Sirajuddin A,
Chen M,
Gadina M,
Calvo KR,
Kaplan MJ,
Colbert RA,
Aksentijevich I,
Young NS,
Savic S,
Kastner DL,
Ombrello AK,
Beck DB,
Grayson PC
Arthritis Rheumatol
2021 Oct;73(10):1886-1895.
Epub 2021 Aug 31
doi: 10.1002/art.41743.
PMID: 33779074
de Geus CM,
Free RH,
Verbist BM,
Sival DA,
Blake KD,
Meiners LC,
van Ravenswaaij-Arts CMA
Am J Med Genet C Semin Med Genet
2017 Dec;175(4):450-464.
Epub 2017 Nov 23
doi: 10.1002/ajmg.c.31593.
PMID: 29168326Free PMC Article
Lenassi E,
Vincent A,
Li Z,
Saihan Z,
Coffey AJ,
Steele-Stallard HB,
Moore AT,
Steel KP,
Luxon LM,
Héon E,
Bitner-Glindzicz M,
Webster AR
Eur J Hum Genet
2015 Oct;23(10):1318-27.
Epub 2015 Feb 4
doi: 10.1038/ejhg.2014.283.
PMID: 25649381Free PMC Article
Ueda K,
Tokugawa K,
Kusuhara K
Early Hum Dev
1992 Jun-Jul;29(1-3):131-5.
doi: 10.1016/0378-3782(92)90127-3.
PMID: 1396225