Etiology
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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Fleming LR,
Doherty DA,
Parisi MA,
Glass IA,
Bryant J,
Fischer R,
Turkbey B,
Choyke P,
Daryanani K,
Vemulapalli M,
Mullikin JC,
Malicdan MC,
Vilboux T,
Sayer JA,
Gahl WA,
Gunay-Aygun M
Clin J Am Soc Nephrol
2017 Dec 7;12(12):1962-1973.
Epub 2017 Nov 16
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PMID: 29146704Free PMC Article
Bachmann-Gagescu R,
Dempsey JC,
Phelps IG,
O'Roak BJ,
Knutzen DM,
Rue TC,
Ishak GE,
Isabella CR,
Gorden N,
Adkins J,
Boyle EA,
de Lacy N,
O'Day D,
Alswaid A,
Ramadevi A R,
Lingappa L,
Lourenço C,
Martorell L,
Garcia-Cazorla À,
Ozyürek H,
Haliloğlu G,
Tuysuz B,
Topçu M;
University of Washington Center for Mendelian Genomics,
Chance P,
Parisi MA,
Glass IA,
Shendure J,
Doherty D
J Med Genet
2015 Aug;52(8):514-22.
Epub 2015 Jun 19
doi: 10.1136/jmedgenet-2015-103087.
PMID: 26092869Free PMC Article
Baehr W
Invest Ophthalmol Vis Sci
2014 Dec 30;55(12):8653-66.
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Salman MS,
Ikeda KM
Can J Neurol Sci
2013 Mar;40(2):235-40.
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PMID: 23419574
Diagnosis
Katiyar D,
Anderson N,
Bommireddipalli S,
Bournazos A,
Cooper S,
Goel H
Eur J Med Genet
2020 Sep;63(9):104000.
Epub 2020 Jul 2
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PMID: 32622957
Linpeng S,
Liu J,
Pan J,
Cao Y,
Teng Y,
Liang D,
Li Z,
Wu L
Biomed Res Int
2018;2018:4032543.
Epub 2018 Nov 15
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PMID: 30581852Free PMC Article
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
doi: 10.1016/j.ophtha.2018.05.026.
PMID: 30055837Free PMC Article
Watson CM,
Crinnion LA,
Berry IR,
Harrison SM,
Lascelles C,
Antanaviciute A,
Charlton RS,
Dobbie A,
Carr IM,
Bonthron DT
BMC Med Genet
2016 Jan 4;17:1.
doi: 10.1186/s12881-015-0265-z.
PMID: 26729329Free PMC Article
Bachmann-Gagescu R,
Dempsey JC,
Phelps IG,
O'Roak BJ,
Knutzen DM,
Rue TC,
Ishak GE,
Isabella CR,
Gorden N,
Adkins J,
Boyle EA,
de Lacy N,
O'Day D,
Alswaid A,
Ramadevi A R,
Lingappa L,
Lourenço C,
Martorell L,
Garcia-Cazorla À,
Ozyürek H,
Haliloğlu G,
Tuysuz B,
Topçu M;
University of Washington Center for Mendelian Genomics,
Chance P,
Parisi MA,
Glass IA,
Shendure J,
Doherty D
J Med Genet
2015 Aug;52(8):514-22.
Epub 2015 Jun 19
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PMID: 26092869Free PMC Article
Therapy
Butorac Ahel I,
Severinski S,
Lah Tomulic K,
Milardovic A,
Baraba Dekanic K,
Palcevski D
J Pediatr Endocrinol Metab
2021 Aug 26;34(8):1045-1048.
Epub 2021 May 3
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PMID: 33939902
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
doi: 10.1016/j.ophtha.2018.05.026.
PMID: 30055837Free PMC Article
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.
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PMID: 33691693Free PMC Article
Fleming LR,
Doherty DA,
Parisi MA,
Glass IA,
Bryant J,
Fischer R,
Turkbey B,
Choyke P,
Daryanani K,
Vemulapalli M,
Mullikin JC,
Malicdan MC,
Vilboux T,
Sayer JA,
Gahl WA,
Gunay-Aygun M
Clin J Am Soc Nephrol
2017 Dec 7;12(12):1962-1973.
Epub 2017 Nov 16
doi: 10.2215/CJN.05660517.
PMID: 29146704Free PMC Article
Baehr W
Invest Ophthalmol Vis Sci
2014 Dec 30;55(12):8653-66.
doi: 10.1167/iovs.14-16066.
PMID: 25550383Free PMC Article
Zhang D,
Aravind L
Cell Cycle
2012 Oct 15;11(20):3861-75.
Epub 2012 Sep 14
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PMID: 22983010Free PMC Article
Raynes HR,
Shanske A,
Goldberg S,
Burde R,
Rapin I
J Child Neurol
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doi: 10.1177/088307389901401005.
PMID: 10511337
Clinical prediction guides
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
Takagi Y,
Miura K,
Yabuuchi T,
Kaneko N,
Ishizuka K,
Takei M,
Yajima C,
Ikeuchi Y,
Kobayashi Y,
Takizawa T,
Hisano M,
Tsurusaki Y,
Matsumoto N,
Hattori M
Sci Rep
2021 Jan 11;11(1):462.
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PMID: 33432080Free PMC Article
Fleming LR,
Doherty DA,
Parisi MA,
Glass IA,
Bryant J,
Fischer R,
Turkbey B,
Choyke P,
Daryanani K,
Vemulapalli M,
Mullikin JC,
Malicdan MC,
Vilboux T,
Sayer JA,
Gahl WA,
Gunay-Aygun M
Clin J Am Soc Nephrol
2017 Dec 7;12(12):1962-1973.
Epub 2017 Nov 16
doi: 10.2215/CJN.05660517.
PMID: 29146704Free PMC Article
Bachmann-Gagescu R,
Dempsey JC,
Phelps IG,
O'Roak BJ,
Knutzen DM,
Rue TC,
Ishak GE,
Isabella CR,
Gorden N,
Adkins J,
Boyle EA,
de Lacy N,
O'Day D,
Alswaid A,
Ramadevi A R,
Lingappa L,
Lourenço C,
Martorell L,
Garcia-Cazorla À,
Ozyürek H,
Haliloğlu G,
Tuysuz B,
Topçu M;
University of Washington Center for Mendelian Genomics,
Chance P,
Parisi MA,
Glass IA,
Shendure J,
Doherty D
J Med Genet
2015 Aug;52(8):514-22.
Epub 2015 Jun 19
doi: 10.1136/jmedgenet-2015-103087.
PMID: 26092869Free PMC Article
Baehr W
Invest Ophthalmol Vis Sci
2014 Dec 30;55(12):8653-66.
doi: 10.1167/iovs.14-16066.
PMID: 25550383Free PMC Article