Etiology
Haqq AM,
Chung WK,
Dollfus H,
Haws RM,
Martos-Moreno GÁ,
Poitou C,
Yanovski JA,
Mittleman RS,
Yuan G,
Forsythe E,
Clément K,
Argente J
Lancet Diabetes Endocrinol
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Fischer MD,
Michalakis S,
Wilhelm B,
Zobor D,
Muehlfriedel R,
Kohl S,
Weisschuh N,
Ochakovski GA,
Klein R,
Schoen C,
Sothilingam V,
Garcia-Garrido M,
Kuehlewein L,
Kahle N,
Werner A,
Dauletbekov D,
Paquet-Durand F,
Tsang S,
Martus P,
Peters T,
Seeliger M,
Bartz-Schmidt KU,
Ueffing M,
Zrenner E,
Biel M,
Wissinger B
JAMA Ophthalmol
2020 Jun 1;138(6):643-651.
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Xu K,
Xie Y,
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Chen C,
Li Y
Br J Ophthalmol
2020 Jul;104(7):932-937.
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Ganetzky RD,
Stendel C,
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Zolkipli-Cunningham Z,
Goldstein AC,
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Falk MJ
Hum Mutat
2019 May;40(5):499-515.
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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
Haqq AM,
Chung WK,
Dollfus H,
Haws RM,
Martos-Moreno GÁ,
Poitou C,
Yanovski JA,
Mittleman RS,
Yuan G,
Forsythe E,
Clément K,
Argente J
Lancet Diabetes Endocrinol
2022 Dec;10(12):859-868.
Epub 2022 Nov 7
doi: 10.1016/S2213-8587(22)00277-7.
PMID: 36356613Free PMC Article
Fischer MD,
Michalakis S,
Wilhelm B,
Zobor D,
Muehlfriedel R,
Kohl S,
Weisschuh N,
Ochakovski GA,
Klein R,
Schoen C,
Sothilingam V,
Garcia-Garrido M,
Kuehlewein L,
Kahle N,
Werner A,
Dauletbekov D,
Paquet-Durand F,
Tsang S,
Martus P,
Peters T,
Seeliger M,
Bartz-Schmidt KU,
Ueffing M,
Zrenner E,
Biel M,
Wissinger B
JAMA Ophthalmol
2020 Jun 1;138(6):643-651.
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PMID: 32352493Free PMC Article
Ganetzky RD,
Stendel C,
McCormick EM,
Zolkipli-Cunningham Z,
Goldstein AC,
Klopstock T,
Falk MJ
Hum Mutat
2019 May;40(5):499-515.
Epub 2019 Mar 4
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PMID: 30763462Free PMC Article
Jiang F,
Pan Z,
Xu K,
Tian L,
Xie Y,
Zhang X,
Chen J,
Dong B,
Li Y
Invest Ophthalmol Vis Sci
2016 Jan 1;57(1):145-52.
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PMID: 26780318
Hamel C
Orphanet J Rare Dis
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Therapy
Chen X,
Xu N,
Li J,
Zhao M,
Huang L
Stem Cell Res Ther
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Haqq AM,
Chung WK,
Dollfus H,
Haws RM,
Martos-Moreno GÁ,
Poitou C,
Yanovski JA,
Mittleman RS,
Yuan G,
Forsythe E,
Clément K,
Argente J
Lancet Diabetes Endocrinol
2022 Dec;10(12):859-868.
Epub 2022 Nov 7
doi: 10.1016/S2213-8587(22)00277-7.
PMID: 36356613Free PMC Article
Wang J,
Tao Z,
Deng H,
Cui Y,
Xu Z,
Lyu Q,
Zhao J
Nanoscale
2022 Apr 14;14(15):5657-5677.
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PMID: 35352082
Fischer MD,
Michalakis S,
Wilhelm B,
Zobor D,
Muehlfriedel R,
Kohl S,
Weisschuh N,
Ochakovski GA,
Klein R,
Schoen C,
Sothilingam V,
Garcia-Garrido M,
Kuehlewein L,
Kahle N,
Werner A,
Dauletbekov D,
Paquet-Durand F,
Tsang S,
Martus P,
Peters T,
Seeliger M,
Bartz-Schmidt KU,
Ueffing M,
Zrenner E,
Biel M,
Wissinger B
JAMA Ophthalmol
2020 Jun 1;138(6):643-651.
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PMID: 32352493Free PMC Article
Mattle D,
Kuhn B,
Aebi J,
Bedoucha M,
Kekilli D,
Grozinger N,
Alker A,
Rudolph MG,
Schmid G,
Schertler GFX,
Hennig M,
Standfuss J,
Dawson RJP
Proc Natl Acad Sci U S A
2018 Apr 3;115(14):3640-3645.
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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
Fischer MD,
Michalakis S,
Wilhelm B,
Zobor D,
Muehlfriedel R,
Kohl S,
Weisschuh N,
Ochakovski GA,
Klein R,
Schoen C,
Sothilingam V,
Garcia-Garrido M,
Kuehlewein L,
Kahle N,
Werner A,
Dauletbekov D,
Paquet-Durand F,
Tsang S,
Martus P,
Peters T,
Seeliger M,
Bartz-Schmidt KU,
Ueffing M,
Zrenner E,
Biel M,
Wissinger B
JAMA Ophthalmol
2020 Jun 1;138(6):643-651.
doi: 10.1001/jamaophthalmol.2020.1032.
PMID: 32352493Free PMC Article
Brown DA,
Perry JB,
Allen ME,
Sabbah HN,
Stauffer BL,
Shaikh SR,
Cleland JG,
Colucci WS,
Butler J,
Voors AA,
Anker SD,
Pitt B,
Pieske B,
Filippatos G,
Greene SJ,
Gheorghiade M
Nat Rev Cardiol
2017 Apr;14(4):238-250.
Epub 2016 Dec 22
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PMID: 28004807Free PMC Article
Jiang F,
Pan Z,
Xu K,
Tian L,
Xie Y,
Zhang X,
Chen J,
Dong B,
Li Y
Invest Ophthalmol Vis Sci
2016 Jan 1;57(1):145-52.
doi: 10.1167/iovs.15-18190.
PMID: 26780318
Hamel C
Orphanet J Rare Dis
2006 Oct 11;1:40.
doi: 10.1186/1750-1172-1-40.
PMID: 17032466Free PMC Article
Clinical prediction guides
Heath Jeffery RC,
Lo J,
Thompson JA,
Lamey TM,
McLaren TL,
DeRoach JN,
Kabilio MS,
Chen FK
Ophthalmic Genet
2023 Aug;44(4):352-360.
Epub 2023 Apr 4
doi: 10.1080/13816810.2023.2196338.
PMID: 37013444
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
Fischer MD,
Michalakis S,
Wilhelm B,
Zobor D,
Muehlfriedel R,
Kohl S,
Weisschuh N,
Ochakovski GA,
Klein R,
Schoen C,
Sothilingam V,
Garcia-Garrido M,
Kuehlewein L,
Kahle N,
Werner A,
Dauletbekov D,
Paquet-Durand F,
Tsang S,
Martus P,
Peters T,
Seeliger M,
Bartz-Schmidt KU,
Ueffing M,
Zrenner E,
Biel M,
Wissinger B
JAMA Ophthalmol
2020 Jun 1;138(6):643-651.
doi: 10.1001/jamaophthalmol.2020.1032.
PMID: 32352493Free PMC Article
Ganetzky RD,
Stendel C,
McCormick EM,
Zolkipli-Cunningham Z,
Goldstein AC,
Klopstock T,
Falk MJ
Hum Mutat
2019 May;40(5):499-515.
Epub 2019 Mar 4
doi: 10.1002/humu.23723.
PMID: 30763462Free 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.
Epub 2011 Dec 1
doi: 10.1136/jmedgenet-2011-100468.
PMID: 22135276Free PMC Article