Etiology
Aksu Uzunhan T,
Ertürk B,
Aydın K,
Ayaz A,
Altunoğlu U,
Yarar MH,
Gezdirici A,
İçağasıoğlu DF,
Gökpınar İli E,
Uyanık B,
Eser M,
Kutbay YB,
Topçu Y,
Kılıç B,
Bektaş G,
Arduç Akçay A,
Ekici B,
Chousein A,
Avcı Ş,
Yüksel A,
Kayserili H
Clin Neurol Neurosurg
2023 Jan;224:107560.
Epub 2022 Dec 13
doi: 10.1016/j.clineuro.2022.107560.
PMID: 36580738
Gana S,
Serpieri V,
Valente EM
Am J Med Genet C Semin Med Genet
2022 Mar;190(1):72-88.
Epub 2022 Mar 3
doi: 10.1002/ajmg.c.31963.
PMID: 35238134Free PMC Article
Lingam G,
Sen AC,
Lingam V,
Bhende M,
Padhi TR,
Xinyi S
Eye (Lond)
2021 Aug;35(8):2086-2109.
Epub 2021 Mar 21
doi: 10.1038/s41433-021-01501-5.
PMID: 33746210Free PMC Article
McConnachie DJ,
Stow JL,
Mallett AJ
Am J Kidney Dis
2021 Mar;77(3):410-419.
Epub 2020 Oct 9
doi: 10.1053/j.ajkd.2020.08.012.
PMID: 33039432
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
Diagnosis
Spahiu L,
Behluli E,
Grajçevci-Uka V,
Liehr T,
Temaj G
J Mother Child
2022 Mar 1;26(1):118-123.
Epub 2023 Feb 22
doi: 10.34763/jmotherandchild.20222601.d-22-00034.
PMID: 36803942Free PMC Article
Mirzayev I,
Gündüz AK
Turk J Ophthalmol
2022 Dec 28;52(6):421-431.
doi: 10.4274/tjo.galenos.2022.25979.
PMID: 36578224Free PMC Article
Gana S,
Serpieri V,
Valente EM
Am J Med Genet C Semin Med Genet
2022 Mar;190(1):72-88.
Epub 2022 Mar 3
doi: 10.1002/ajmg.c.31963.
PMID: 35238134Free PMC Article
Chen C,
Xiao H,
Ding X
Asia Pac J Ophthalmol (Phila)
2019 Jan-Feb;8(1):86-95.
Epub 2018 Oct 30
doi: 10.22608/APO.201854.
PMID: 30375202
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
Therapy
Shivanna M,
Anand M,
Chakrabarti S,
Khanna H
Curr Med Chem
2019;26(17):3120-3131.
doi: 10.2174/0929867325666180917102557.
PMID: 30221600Free PMC Article
Moore NA,
Morral N,
Ciulla TA,
Bracha P
Expert Opin Biol Ther
2018 Jan;18(1):37-49.
Epub 2017 Oct 23
doi: 10.1080/14712598.2018.1389886.
PMID: 29057663
Nagel-Wolfrum K,
Baasov T,
Wolfrum U
Adv Exp Med Biol
2014;801:741-7.
doi: 10.1007/978-1-4614-3209-8_93.
PMID: 24664766
Blake KD,
Prasad C
Orphanet J Rare Dis
2006 Sep 7;1:34.
doi: 10.1186/1750-1172-1-34.
PMID: 16959034Free PMC Article
Martin S
Neonatal Netw
2001 Jun;20(4):23-30.
doi: 10.1891/0730-0832.20.4.23.
PMID: 12143899
Prognosis
Wang M,
Lin T,
Wang L,
Lin A,
Zou K,
Xu X,
Zhou Y,
Peng Y,
Meng Q,
Qian Y,
Deng G,
Wu Z,
Chen J,
Lin J,
Zhang M,
Zhu W,
Zhang C,
Zhang D,
Goh RSM,
Liu Y,
Pang CP,
Chen X,
Chen H,
Fu H
Nat Commun
2023 Oct 24;14(1):6757.
doi: 10.1038/s41467-023-42444-7.
PMID: 37875484Free PMC Article
Gana S,
Serpieri V,
Valente EM
Am J Med Genet C Semin Med Genet
2022 Mar;190(1):72-88.
Epub 2022 Mar 3
doi: 10.1002/ajmg.c.31963.
PMID: 35238134Free PMC Article
Thomas MG,
Papageorgiou E,
Kuht HJ,
Gottlob I
Br J Ophthalmol
2022 May;106(5):593-599.
Epub 2020 Nov 4
doi: 10.1136/bjophthalmol-2020-316348.
PMID: 33148537
Society for Maternal-Fetal Medicine (SMFM),
Monteagudo A
Am J Obstet Gynecol
2020 Dec;223(6):B38-B41.
Epub 2020 Nov 7
doi: 10.1016/j.ajog.2020.08.184.
PMID: 33168220
Karremann M,
Neumaier-Probst E,
Schlichtenbrede F,
Beier F,
Brümmendorf TH,
Cremer FW,
Bader P,
Dürken M
Orphanet J Rare Dis
2020 Oct 23;15(1):299.
doi: 10.1186/s13023-020-01553-y.
PMID: 33097095Free PMC Article
Clinical prediction guides
Aksu Uzunhan T,
Ertürk B,
Aydın K,
Ayaz A,
Altunoğlu U,
Yarar MH,
Gezdirici A,
İçağasıoğlu DF,
Gökpınar İli E,
Uyanık B,
Eser M,
Kutbay YB,
Topçu Y,
Kılıç B,
Bektaş G,
Arduç Akçay A,
Ekici B,
Chousein A,
Avcı Ş,
Yüksel A,
Kayserili H
Clin Neurol Neurosurg
2023 Jan;224:107560.
Epub 2022 Dec 13
doi: 10.1016/j.clineuro.2022.107560.
PMID: 36580738
Mirzayev I,
Gündüz AK
Turk J Ophthalmol
2022 Dec 28;52(6):421-431.
doi: 10.4274/tjo.galenos.2022.25979.
PMID: 36578224Free PMC Article
Pollara L,
Sottile V,
Valente EM
J Med Genet
2022 Jun;59(6):517-527.
Epub 2022 Feb 19
doi: 10.1136/jmedgenet-2021-108315.
PMID: 35184035
Thomas MG,
Papageorgiou E,
Kuht HJ,
Gottlob I
Br J Ophthalmol
2022 May;106(5):593-599.
Epub 2020 Nov 4
doi: 10.1136/bjophthalmol-2020-316348.
PMID: 33148537
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