Etiology
Monavarfeshani A,
Yan W,
Pappas C,
Odenigbo KA,
He Z,
Segrè AV,
van Zyl T,
Hageman GS,
Sanes JR
Proc Natl Acad Sci U S A
2023 Aug 22;120(34):e2306153120.
Epub 2023 Aug 11
doi: 10.1073/pnas.2306153120.
PMID: 37566633Free PMC Article
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
Meyer JR,
Krentz AD,
Berg RL,
Richardson JG,
Pomeroy J,
Hebbring SJ,
Haws RM
Clin Genet
2022 Apr;101(4):429-441.
doi: 10.1111/cge.14119.
PMID: 35112343Free 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
Murray AR,
Fliesler SJ,
Al-Ubaidi MR
Ophthalmic Genet
2009 Sep;30(3):109-20.
doi: 10.1080/13816810902962405.
PMID: 19941415Free PMC Article
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
Zampaglione E,
Kinde B,
Place EM,
Navarro-Gomez D,
Maher M,
Jamshidi F,
Nassiri S,
Mazzone JA,
Finn C,
Schlegel D,
Comander J,
Pierce EA,
Bujakowska KM
Genet Med
2020 Jun;22(6):1079-1087.
Epub 2020 Feb 10
doi: 10.1038/s41436-020-0759-8.
PMID: 32037395Free 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
Daiger SP,
Sullivan LS,
Bowne SJ
Clin Genet
2013 Aug;84(2):132-41.
Epub 2013 Jun 19
doi: 10.1111/cge.12203.
PMID: 23701314Free PMC Article
Lambert SR,
Kriss A,
Taylor D,
Coffey R,
Pembrey M
Am J Ophthalmol
1989 Jun 15;107(6):624-31.
doi: 10.1016/0002-9394(89)90259-6.
PMID: 2658617
Therapy
Ali S,
Baig S,
Wanninayake S,
da Silva Xavier G,
Dawson C,
Paisey R,
Geberhiwot T
Diabetes Obes Metab
2024 Mar;26(3):989-996.
Epub 2023 Dec 27
doi: 10.1111/dom.15398.
PMID: 38151964
Kwan WC,
Brunton EK,
Begeng JM,
Richardson RT,
Ibbotson MR,
Tong W
Annu Int Conf IEEE Eng Med Biol Soc
2023 Jul;2023:1-4.
doi: 10.1109/EMBC40787.2023.10340849.
PMID: 38083106
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
Mendell JR,
Al-Zaidy SA,
Rodino-Klapac LR,
Goodspeed K,
Gray SJ,
Kay CN,
Boye SL,
Boye SE,
George LA,
Salabarria S,
Corti M,
Byrne BJ,
Tremblay JP
Mol Ther
2021 Feb 3;29(2):464-488.
Epub 2020 Dec 10
doi: 10.1016/j.ymthe.2020.12.007.
PMID: 33309881Free PMC Article
Craythorn JM,
Swartz M,
Creel DJ
Retina
1986 Winter-Spring;6(1):50-2.
PMID: 3704351
Prognosis
Zampaglione E,
Kinde B,
Place EM,
Navarro-Gomez D,
Maher M,
Jamshidi F,
Nassiri S,
Mazzone JA,
Finn C,
Schlegel D,
Comander J,
Pierce EA,
Bujakowska KM
Genet Med
2020 Jun;22(6):1079-1087.
Epub 2020 Feb 10
doi: 10.1038/s41436-020-0759-8.
PMID: 32037395Free PMC Article
Weller JM,
Michelson G,
Juenemann AG
BMJ Case Rep
2014 Feb 10;2014
doi: 10.1136/bcr-2013-202236.
PMID: 24515232Free PMC Article
Baker K,
Beales PL
Am J Med Genet C Semin Med Genet
2009 Nov 15;151C(4):281-95.
doi: 10.1002/ajmg.c.30231.
PMID: 19876933
Hamel CP
Orphanet J Rare Dis
2007 Feb 1;2:7.
doi: 10.1186/1750-1172-2-7.
PMID: 17270046Free PMC Article
Lambert SR,
Kriss A,
Taylor D,
Coffey R,
Pembrey M
Am J Ophthalmol
1989 Jun 15;107(6):624-31.
doi: 10.1016/0002-9394(89)90259-6.
PMID: 2658617
Clinical prediction guides
Ali S,
Baig S,
Wanninayake S,
da Silva Xavier G,
Dawson C,
Paisey R,
Geberhiwot T
Diabetes Obes Metab
2024 Mar;26(3):989-996.
Epub 2023 Dec 27
doi: 10.1111/dom.15398.
PMID: 38151964
Kwan WC,
Brunton EK,
Begeng JM,
Richardson RT,
Ibbotson MR,
Tong W
Annu Int Conf IEEE Eng Med Biol Soc
2023 Jul;2023:1-4.
doi: 10.1109/EMBC40787.2023.10340849.
PMID: 38083106
Schwartz SG,
Wang X,
Chavis P,
Kuriyan AE,
Abariga SA
Cochrane Database Syst Rev
2020 Jun 18;6(6):CD008428.
doi: 10.1002/14651858.CD008428.pub3.
PMID: 32573764Free PMC Article
Zampaglione E,
Kinde B,
Place EM,
Navarro-Gomez D,
Maher M,
Jamshidi F,
Nassiri S,
Mazzone JA,
Finn C,
Schlegel D,
Comander J,
Pierce EA,
Bujakowska KM
Genet Med
2020 Jun;22(6):1079-1087.
Epub 2020 Feb 10
doi: 10.1038/s41436-020-0759-8.
PMID: 32037395Free PMC Article
Baker K,
Beales PL
Am J Med Genet C Semin Med Genet
2009 Nov 15;151C(4):281-95.
doi: 10.1002/ajmg.c.30231.
PMID: 19876933