Etiology
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
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Rossetti L
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Zenteno JC,
García-Montaño LA,
Cruz-Aguilar M,
Ronquillo J,
Rodas-Serrano A,
Aguilar-Castul L,
Matsui R,
Vencedor-Meraz CI,
Arce-González R,
Graue-Wiechers F,
Gutiérrez-Paz M,
Urrea-Victoria T,
de Dios Cuadras U,
Chacón-Camacho OF
Mol Genet Genomic Med
2020 Jan;8(1)
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Verbakel SK,
van Huet RAC,
Boon CJF,
den Hollander AI,
Collin RWJ,
Klaver CCW,
Hoyng CB,
Roepman R,
Klevering BJ
Prog Retin Eye Res
2018 Sep;66:157-186.
Epub 2018 Mar 27
doi: 10.1016/j.preteyeres.2018.03.005.
PMID: 29597005
Riveiro-Alvarez R,
Lopez-Martinez MA,
Zernant J,
Aguirre-Lamban J,
Cantalapiedra D,
Avila-Fernandez A,
Gimenez A,
Lopez-Molina MI,
Garcia-Sandoval B,
Blanco-Kelly F,
Corton M,
Tatu S,
Fernandez-San Jose P,
Trujillo-Tiebas MJ,
Ramos C,
Allikmets R,
Ayuso C
Ophthalmology
2013 Nov;120(11):2332-7.
Epub 2013 Jun 4
doi: 10.1016/j.ophtha.2013.04.002.
PMID: 23755871Free PMC Article
Le Quesne Stabej P,
Saihan Z,
Rangesh N,
Steele-Stallard HB,
Ambrose J,
Coffey A,
Emmerson J,
Haralambous E,
Hughes Y,
Steel KP,
Luxon LM,
Webster AR,
Bitner-Glindzicz M
J Med Genet
2012 Jan;49(1):27-36.
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Diagnosis
Pradhan ZS,
Shroff S,
Bansod A,
Poornachandra B,
Shetty A,
Devi S,
Rao DAS,
Puttaiah NK,
Rao HL
Indian J Ophthalmol
2022 Jul;70(7):2449-2451.
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PMID: 35791130Free PMC Article
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
doi: 10.1167/iovs.62.2.13.
PMID: 33576794Free PMC Article
Verbakel SK,
van Huet RAC,
Boon CJF,
den Hollander AI,
Collin RWJ,
Klaver CCW,
Hoyng CB,
Roepman R,
Klevering BJ
Prog Retin Eye Res
2018 Sep;66:157-186.
Epub 2018 Mar 27
doi: 10.1016/j.preteyeres.2018.03.005.
PMID: 29597005
Riveiro-Alvarez R,
Lopez-Martinez MA,
Zernant J,
Aguirre-Lamban J,
Cantalapiedra D,
Avila-Fernandez A,
Gimenez A,
Lopez-Molina MI,
Garcia-Sandoval B,
Blanco-Kelly F,
Corton M,
Tatu S,
Fernandez-San Jose P,
Trujillo-Tiebas MJ,
Ramos C,
Allikmets R,
Ayuso C
Ophthalmology
2013 Nov;120(11):2332-7.
Epub 2013 Jun 4
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PMID: 23755871Free PMC Article
Brownstein Z,
Avraham KB
Pediatr Res
2009 Aug;66(2):128-34.
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PMID: 19390476
Therapy
Karacan Küçükali G,
Keskin M,
Aycan Z,
Savaş-Erdeve Ş,
Çetinkaya S
Eur J Med Genet
2023 Oct;66(10):104828.
Epub 2023 Sep 4
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PMID: 37673300
Dizdar Yigit D,
Sevik MO,
Şahin Ö
Retina
2022 May 1;42(5):923-933.
doi: 10.1097/IAE.0000000000003386.
PMID: 34923514
Kishlyansky D,
Kline G
BMJ Case Rep
2021 Sep 3;14(9)
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Arslan U
Lasers Med Sci
2021 Mar;36(2):317-323.
Epub 2020 May 4
doi: 10.1007/s10103-020-03031-0.
PMID: 32363437
Battaglia Parodi M,
De Benedetto U,
Knutsson KA,
Scotti F,
Librando A,
Bandello F,
Iacono P
J Ocul Pharmacol Ther
2012 Apr;28(2):202-4.
Epub 2011 Dec 7
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PMID: 22149640
Prognosis
Ma DJ,
Lee HS,
Kim K,
Choi S,
Jang I,
Cho SH,
Yoon CK,
Lee EK,
Yu HG
BMC Med Genomics
2021 Mar 10;14(1):74.
doi: 10.1186/s12920-021-00874-6.
PMID: 33691693Free PMC Article
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
doi: 10.1167/iovs.62.2.13.
PMID: 33576794Free PMC Article
Baudhuin LM,
Biesecker LG,
Burke W,
Green ED,
Green RC
Clin Chem
2020 Jan 1;66(1):33-41.
doi: 10.1373/clinchem.2019.304345.
PMID: 31843866
Mucciolo DP,
Sodi A,
Murro V,
Virgili G,
Rizzo S
Ophthalmic Surg Lasers Imaging Retina
2017 Apr 1;48(4):340-344.
doi: 10.3928/23258160-20170329-09.
PMID: 28419400
Riveiro-Alvarez R,
Lopez-Martinez MA,
Zernant J,
Aguirre-Lamban J,
Cantalapiedra D,
Avila-Fernandez A,
Gimenez A,
Lopez-Molina MI,
Garcia-Sandoval B,
Blanco-Kelly F,
Corton M,
Tatu S,
Fernandez-San Jose P,
Trujillo-Tiebas MJ,
Ramos C,
Allikmets R,
Ayuso C
Ophthalmology
2013 Nov;120(11):2332-7.
Epub 2013 Jun 4
doi: 10.1016/j.ophtha.2013.04.002.
PMID: 23755871Free PMC Article
Clinical prediction guides
Yoon CK,
Bae K,
Yu HG
Am J Ophthalmol
2022 Sep;241:149-159.
Epub 2022 May 9
doi: 10.1016/j.ajo.2022.05.002.
PMID: 35551907
Simonini C,
Floeck A,
Strizek B,
Mueller A,
Gembruch U,
Geipel A
Arch Gynecol Obstet
2022 Jul;306(1):71-83.
Epub 2021 Oct 1
doi: 10.1007/s00404-021-06265-7.
PMID: 34596737Free PMC Article
Ma DJ,
Lee HS,
Kim K,
Choi S,
Jang I,
Cho SH,
Yoon CK,
Lee EK,
Yu HG
BMC Med Genomics
2021 Mar 10;14(1):74.
doi: 10.1186/s12920-021-00874-6.
PMID: 33691693Free PMC Article
Baudhuin LM,
Biesecker LG,
Burke W,
Green ED,
Green RC
Clin Chem
2020 Jan 1;66(1):33-41.
doi: 10.1373/clinchem.2019.304345.
PMID: 31843866
Le Quesne Stabej P,
Saihan Z,
Rangesh N,
Steele-Stallard HB,
Ambrose J,
Coffey A,
Emmerson J,
Haralambous E,
Hughes Y,
Steel KP,
Luxon LM,
Webster AR,
Bitner-Glindzicz M
J Med Genet
2012 Jan;49(1):27-36.
Epub 2011 Dec 1
doi: 10.1136/jmedgenet-2011-100468.
PMID: 22135276Free PMC Article