Etiology
Lad EM,
Duncan JL,
Liang W,
Maguire MG,
Ayala AR,
Audo I,
Birch DG,
Carroll J,
Cheetham JK,
Durham TA,
Fahim AT,
Loo J,
Deng Z,
Mukherjee D,
Heon E,
Hufnagel RB,
Guan B,
Iannaccone A,
Jaffe GJ,
Kay CN,
Michaelides M,
Pennesi ME,
Vincent A,
Weng CY,
Farsiu S;
Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol
2022 Dec;244:98-116.
Epub 2022 Aug 22
doi: 10.1016/j.ajo.2022.08.013.
PMID: 36007554Free PMC Article
Nasser H,
Vera L,
Elmaleh-Bergès M,
Steindl K,
Letard P,
Teissier N,
Ernault A,
Guimiot F,
Afenjar A,
Moutard ML,
Héron D,
Alembik Y,
Momtchilova M,
Milani P,
Kubis N,
Pouvreau N,
Zollino M,
Guilmin Crepon S,
Kaguelidou F,
Gressens P,
Verloes A,
Rauch A,
El Ghouzzi V,
Drunat S,
Passemard S
J Med Genet
2020 Jun;57(6):389-399.
Epub 2020 Feb 3
doi: 10.1136/jmedgenet-2019-106474.
PMID: 32015000
Balta B,
Gundogdu R,
Erdogan M,
Alisik M,
Kiraz A,
Ozcan I,
Erel O
Int J Pediatr Otorhinolaryngol
2018 Sep;112:188-192.
Epub 2018 Jul 10
doi: 10.1016/j.ijporl.2018.07.014.
PMID: 30055731
Kim SY,
Kim AR,
Han KH,
Kim MY,
Jeon EH,
Koo JW,
Oh SH,
Choi BY
PLoS One
2015;10(6):e0125416.
Epub 2015 Jun 10
doi: 10.1371/journal.pone.0125416.
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McGee TL,
Seyedahmadi BJ,
Sweeney MO,
Dryja TP,
Berson EL
J Med Genet
2010 Jul;47(7):499-506.
Epub 2010 May 27
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Diagnosis
Dia Y,
Loum B,
Dieng YJKB,
Diop JPD,
Adadey SM,
Aboagye ET,
Ba SA,
Touré AA,
Niang F,
Diaga Sarr P,
Tidiane Ly CA,
Sène ARG,
Kock C,
Bassier R,
Popel K,
Ndiaye Diallo R,
Wonkam A,
Diallo BK
Genes (Basel)
2023 Feb 23;14(3)
doi: 10.3390/genes14030562.
PMID: 36980833Free PMC Article
Lad EM,
Duncan JL,
Liang W,
Maguire MG,
Ayala AR,
Audo I,
Birch DG,
Carroll J,
Cheetham JK,
Durham TA,
Fahim AT,
Loo J,
Deng Z,
Mukherjee D,
Heon E,
Hufnagel RB,
Guan B,
Iannaccone A,
Jaffe GJ,
Kay CN,
Michaelides M,
Pennesi ME,
Vincent A,
Weng CY,
Farsiu S;
Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol
2022 Dec;244:98-116.
Epub 2022 Aug 22
doi: 10.1016/j.ajo.2022.08.013.
PMID: 36007554Free PMC Article
Salzano G,
Rigoli L,
Valenzise M,
Chimenz R,
Passanisi S,
Lombardo F
Int J Environ Res Public Health
2022 Jan 4;19(1)
doi: 10.3390/ijerph19010520.
PMID: 35010780Free PMC Article
Yuan JH,
Hashiguchi A,
Okamoto Y,
Yoshimura A,
Ando M,
Shiomi K,
Saito K,
Takahashi M,
Ichinose K,
Ohmichi T,
Ichikawa K,
Tadashi A,
Takigawa H,
Shibayama H,
Takashima H
J Hum Genet
2018 Mar;63(3):281-287.
Epub 2018 Jan 10
doi: 10.1038/s10038-017-0388-5.
PMID: 29321516
McGee TL,
Seyedahmadi BJ,
Sweeney MO,
Dryja TP,
Berson EL
J Med Genet
2010 Jul;47(7):499-506.
Epub 2010 May 27
doi: 10.1136/jmg.2009.075143.
PMID: 20507924Free PMC Article
Therapy
Nasser H,
Vera L,
Elmaleh-Bergès M,
Steindl K,
Letard P,
Teissier N,
Ernault A,
Guimiot F,
Afenjar A,
Moutard ML,
Héron D,
Alembik Y,
Momtchilova M,
Milani P,
Kubis N,
Pouvreau N,
Zollino M,
Guilmin Crepon S,
Kaguelidou F,
Gressens P,
Verloes A,
Rauch A,
El Ghouzzi V,
Drunat S,
Passemard S
J Med Genet
2020 Jun;57(6):389-399.
Epub 2020 Feb 3
doi: 10.1136/jmedgenet-2019-106474.
PMID: 32015000
Boerwinkle C,
Marshall JD,
Bryant J,
Gahl WA,
Olivier KN,
Gunay-Aygun M
Pediatr Pulmonol
2017 Apr;52(4):487-493.
Epub 2016 Dec 28
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Taniguchi M,
Matsuo H,
Shimizu S,
Nakayama A,
Suzuki K,
Hamajima N,
Shinomiya N,
Nishio S,
Kosugi S,
Usami S,
Ito J,
Kitajiri S
J Hum Genet
2015 Oct;60(10):613-7.
Epub 2015 Jul 16
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PMID: 26178431Free PMC Article
Prognosis
Salzano G,
Rigoli L,
Valenzise M,
Chimenz R,
Passanisi S,
Lombardo F
Int J Environ Res Public Health
2022 Jan 4;19(1)
doi: 10.3390/ijerph19010520.
PMID: 35010780Free PMC Article
Pérez-Carro R,
Blanco-Kelly F,
Galbis-Martínez L,
García-García G,
Aller E,
García-Sandoval B,
Mínguez P,
Corton M,
Mahíllo-Fernández I,
Martín-Mérida I,
Avila-Fernández A,
Millán JM,
Ayuso C
PLoS One
2018;13(6):e0199048.
Epub 2018 Jun 18
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PMID: 29912909Free PMC Article
Kim SY,
Kim AR,
Han KH,
Kim MY,
Jeon EH,
Koo JW,
Oh SH,
Choi BY
PLoS One
2015;10(6):e0125416.
Epub 2015 Jun 10
doi: 10.1371/journal.pone.0125416.
PMID: 26061264Free PMC Article
Ramzan K,
Taibah K,
Tahir AI,
Al-Tassan N,
Berhan A,
Khater AM,
Al-Hazzaa SA,
Al-Owain M,
Imtiaz F
Eur J Med Genet
2014 May-Jun;57(6):253-8.
Epub 2014 Apr 21
doi: 10.1016/j.ejmg.2014.04.004.
PMID: 24768815
Song MJ,
Lee ST,
Lee MK,
Ji Y,
Kim JW,
Ki CS
J Hum Genet
2012 Feb;57(2):139-44.
Epub 2011 Dec 15
doi: 10.1038/jhg.2011.144.
PMID: 22170460
Clinical prediction guides
Dia Y,
Loum B,
Dieng YJKB,
Diop JPD,
Adadey SM,
Aboagye ET,
Ba SA,
Touré AA,
Niang F,
Diaga Sarr P,
Tidiane Ly CA,
Sène ARG,
Kock C,
Bassier R,
Popel K,
Ndiaye Diallo R,
Wonkam A,
Diallo BK
Genes (Basel)
2023 Feb 23;14(3)
doi: 10.3390/genes14030562.
PMID: 36980833Free PMC Article
Jiang Y,
Huang S,
Zhang Y,
Fang N,
Liu Q,
Liu Y,
Bai L,
Han D,
Dai P
Clin Genet
2022 Oct;102(4):305-313.
Epub 2022 Jul 24
doi: 10.1111/cge.14191.
PMID: 35841299
Yuan JH,
Hashiguchi A,
Okamoto Y,
Yoshimura A,
Ando M,
Shiomi K,
Saito K,
Takahashi M,
Ichinose K,
Ohmichi T,
Ichikawa K,
Tadashi A,
Takigawa H,
Shibayama H,
Takashima H
J Hum Genet
2018 Mar;63(3):281-287.
Epub 2018 Jan 10
doi: 10.1038/s10038-017-0388-5.
PMID: 29321516
Kim SY,
Kim AR,
Han KH,
Kim MY,
Jeon EH,
Koo JW,
Oh SH,
Choi BY
PLoS One
2015;10(6):e0125416.
Epub 2015 Jun 10
doi: 10.1371/journal.pone.0125416.
PMID: 26061264Free PMC Article
Waryah AM,
Rehman A,
Ahmed ZM,
Bashir ZH,
Khan SY,
Zafar AU,
Riazuddin S,
Friedman TB,
Riazuddin S
Clin Genet
2009 Sep;76(3):270-5.
Epub 2009 Jul 23
doi: 10.1111/j.1399-0004.2009.01209.x.
PMID: 19650862