Etiology
Morelli F,
Toni F,
Saligari E,
D'Abrusco F,
Serpieri V,
Ballante E,
Ruberto G,
Borgatti R,
Valente EM,
Signorini S;
Developmental Neuro-ophthalmology Study Group
Dev Med Child Neurol
2024 Mar;66(3):379-388.
Epub 2023 Aug 18
doi: 10.1111/dmcn.15732.
PMID: 37593819
Chang MY,
Grosrenaud P,
Borchert MS
J Pediatr Ophthalmol Strabismus
2022 Sep-Oct;59(5):326-331.
Epub 2022 Feb 22
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PMID: 35192381Free PMC Article
Poretti A,
Christen HJ,
Elton LE,
Baumgartner M,
Korenke GC,
Sukhudyan B,
Hethey S,
Cross E,
Steinlin M,
Boltshauser E
Dev Med Child Neurol
2014 Oct;56(10):1016-20.
Epub 2014 May 10
doi: 10.1111/dmcn.12489.
PMID: 24814865
Salman MS,
Ikeda KM
Can J Neurol Sci
2013 Mar;40(2):235-40.
doi: 10.1017/s0317167100013792.
PMID: 23419574
Brancati F,
Dallapiccola B,
Valente EM
Orphanet J Rare Dis
2010 Jul 8;5:20.
doi: 10.1186/1750-1172-5-20.
PMID: 20615230Free PMC Article
Diagnosis
Morelli F,
Toni F,
Saligari E,
D'Abrusco F,
Serpieri V,
Ballante E,
Ruberto G,
Borgatti R,
Valente EM,
Signorini S;
Developmental Neuro-ophthalmology Study Group
Dev Med Child Neurol
2024 Mar;66(3):379-388.
Epub 2023 Aug 18
doi: 10.1111/dmcn.15732.
PMID: 37593819
Chang MY,
Grosrenaud P,
Borchert MS
J Pediatr Ophthalmol Strabismus
2022 Sep-Oct;59(5):326-331.
Epub 2022 Feb 22
doi: 10.3928/01913913-20220106-01.
PMID: 35192381Free PMC Article
Romani M,
Micalizzi A,
Valente EM
Lancet Neurol
2013 Sep;12(9):894-905.
Epub 2013 Jul 17
doi: 10.1016/S1474-4422(13)70136-4.
PMID: 23870701Free PMC Article
Brancati F,
Dallapiccola B,
Valente EM
Orphanet J Rare Dis
2010 Jul 8;5:20.
doi: 10.1186/1750-1172-5-20.
PMID: 20615230Free PMC Article
Parisi MA
Am J Med Genet C Semin Med Genet
2009 Nov 15;151C(4):326-40.
doi: 10.1002/ajmg.c.30229.
PMID: 19876931Free PMC Article
Therapy
Brooks BP,
Zein WM,
Thompson AH,
Mokhtarzadeh M,
Doherty DA,
Parisi M,
Glass IA,
Malicdan MC,
Vilboux T,
Vemulapalli M,
Mullikin JC,
Gahl WA,
Gunay-Aygun M
Ophthalmology
2018 Dec;125(12):1937-1952.
Epub 2018 Jul 25
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Glass IA,
Parisi MA,
Bryant J,
Choyke P,
Turkbey B,
Daryanani K,
Yildirimli D,
Vemulapalli M,
Mullikin JC,
Malicdan MC,
Vilboux T,
Gahl WA,
Gunay-Aygun M;
NISC Comparative Sequencing Program
J Pediatr Gastroenterol Nutr
2018 Mar;66(3):428-435.
doi: 10.1097/MPG.0000000000001816.
PMID: 29112083Free PMC Article
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Congologlu A,
Altun D,
Unay B,
Akin R
J Natl Med Assoc
2009 Mar;101(3):273-5.
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PMID: 19331262
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Yachnis AT,
Gitten J,
Dede D,
Fennell E
J Child Neurol
1999 Jun;14(6):368-76.
doi: 10.1177/088307389901400605.
PMID: 10385844
Prognosis
Serpieri V,
D'Abrusco F,
Dempsey JC,
Cheng YH,
Arrigoni F,
Baker J,
Battini R,
Bertini ES,
Borgatti R,
Christman AK,
Curry C,
D'Arrigo S,
Fluss J,
Freilinger M,
Gana S,
Ishak GE,
Leuzzi V,
Loucks H,
Manti F,
Mendelsohn N,
Merlini L,
Miller CV,
Muhammad A,
Nuovo S,
Romaniello R,
Schmidt W,
Signorini S,
Siliquini S,
Szczałuba K,
Vasco G,
Wilson M,
Zanni G,
Boltshauser E,
Doherty D,
Valente EM;
University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet
2022 Sep;59(9):888-894.
Epub 2021 Oct 21
doi: 10.1136/jmedgenet-2021-108114.
PMID: 34675124Free PMC Article
Brancati F,
Dallapiccola B,
Valente EM
Orphanet J Rare Dis
2010 Jul 8;5:20.
doi: 10.1186/1750-1172-5-20.
PMID: 20615230Free PMC Article
Parisi MA
Am J Med Genet C Semin Med Genet
2009 Nov 15;151C(4):326-40.
doi: 10.1002/ajmg.c.30229.
PMID: 19876931Free PMC Article
Farmer JE,
Deidrick KM,
Gitten JC,
Fennell EB,
Maria BL
J Child Neurol
2006 Feb;21(2):163-7.
doi: 10.1177/08830738060210020401.
PMID: 16566885
Steinlin M,
Schmid M,
Landau K,
Boltshauser E
Neuropediatrics
1997 Aug;28(4):204-11.
doi: 10.1055/s-2007-973701.
PMID: 9309710
Clinical prediction guides
Schröder S,
Yigit G,
Li Y,
Altmüller J,
Büttel HM,
Fiedler B,
Kretzschmar C,
Nürnberg P,
Seeger J,
Serpieri V,
Valente EM,
Wollnik B,
Boltshauser E,
Brockmann K
Orphanet J Rare Dis
2023 May 2;18(1):101.
doi: 10.1186/s13023-023-02706-5.
PMID: 37131188Free PMC Article
Aleman TS,
O'Neil EC,
Uyhazi KE,
Parchinski KM,
Santos AJ,
Weber ML,
Colclough SP,
Billek AS,
Zhu X,
Leroy BP,
Bedoukian EC
Ophthalmic Genet
2022 Dec;43(6):824-833.
Epub 2022 Dec 5
doi: 10.1080/13816810.2022.2147960.
PMID: 36469661
Travaglini L,
Brancati F,
Silhavy J,
Iannicelli M,
Nickerson E,
Elkhartoufi N,
Scott E,
Spencer E,
Gabriel S,
Thomas S,
Ben-Zeev B,
Bertini E,
Boltshauser E,
Chaouch M,
Cilio MR,
de Jong MM,
Kayserili H,
Ogur G,
Poretti A,
Signorini S,
Uziel G,
Zaki MS;
International JSRD Study Group,
Johnson C,
Attié-Bitach T,
Gleeson JG,
Valente EM
Eur J Hum Genet
2013 Oct;21(10):1074-8.
Epub 2013 Feb 6
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PMID: 23386033Free PMC Article
Chance PF,
Cavalier L,
Satran D,
Pellegrino JE,
Koenig M,
Dobyns WB
J Child Neurol
1999 Oct;14(10):660-6; discussion 669-72.
doi: 10.1177/088307389901401007.
PMID: 10511339
Maria BL,
Boltshauser E,
Palmer SC,
Tran TX
J Child Neurol
1999 Sep;14(9):583-90; discussion 590-1.
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PMID: 10488903