Etiology
Bukowy-Bieryllo Z,
Rabiasz A,
Dabrowski M,
Pogorzelski A,
Wojda A,
Dmenska H,
Grzela K,
Sroczynski J,
Witt M,
Zietkiewicz E
J Med Genet
2019 Nov;56(11):769-777.
Epub 2019 Jul 31
doi: 10.1136/jmedgenet-2018-105918.
PMID: 31366608
Fehrenbach MK,
Nestler U,
Meixensberger J,
Bernhard MK,
Merkenschlager A,
Weise S,
Krause M
Childs Nerv Syst
2018 Jul;34(7):1423-1425.
Epub 2018 Mar 5
doi: 10.1007/s00381-018-3767-0.
PMID: 29508057
Musiime GM,
Kinuthia DMW,
Oyatsi DP,
Manguyu W
BMC Res Notes
2017 Dec 6;10(1):696.
doi: 10.1186/s13104-017-3033-7.
PMID: 29208045Free PMC Article
Poretti A,
Snow J,
Summers AC,
Tekes A,
Huisman TAGM,
Aygun N,
Carson KA,
Doherty D,
Parisi MA,
Toro C,
Yildirimli D,
Vemulapalli M,
Mullikin JC;
NISC Comparative Sequencing Program,
Cullinane AR,
Vilboux T,
Gahl WA,
Gunay-Aygun M
J Med Genet
2017 Aug;54(8):521-529.
Epub 2017 Jan 13
doi: 10.1136/jmedgenet-2016-104425.
PMID: 28087721
Khan AO,
Oystreck DT,
Seidahmed MZ,
AlDrees A,
Elmalik SA,
Alorainy IA,
Salih MA
Ophthalmology
2008 Dec;115(12):2286-9.
doi: 10.1016/j.ophtha.2008.08.005.
PMID: 19041481
Diagnosis
Zhu L,
Xie L
Medicine (Baltimore)
2017 Dec;96(51):e8626.
doi: 10.1097/MD.0000000000008626.
PMID: 29390414Free PMC Article
Musiime GM,
Kinuthia DMW,
Oyatsi DP,
Manguyu W
BMC Res Notes
2017 Dec 6;10(1):696.
doi: 10.1186/s13104-017-3033-7.
PMID: 29208045Free PMC Article
Bulgheroni S,
D'Arrigo S,
Signorini S,
Briguglio M,
Di Sabato ML,
Casarano M,
Mancini F,
Romani M,
Alfieri P,
Battini R,
Zoppello M,
Tortorella G,
Bertini E,
Leuzzi V,
Valente EM,
Riva D
Am J Med Genet A
2016 Dec;170(12):3115-3124.
Epub 2016 Aug 17
doi: 10.1002/ajmg.a.37938.
PMID: 27530364
Lehman AM,
Eydoux P,
Doherty D,
Glass IA,
Chitayat D,
Chung BY,
Langlois S,
Yong SL,
Lowry RB,
Hildebrandt F,
Trnka P
Am J Med Genet A
2010 Jun;152A(6):1411-9.
doi: 10.1002/ajmg.a.33416.
PMID: 20503315Free PMC Article
Khan AO,
Oystreck DT,
Seidahmed MZ,
AlDrees A,
Elmalik SA,
Alorainy IA,
Salih MA
Ophthalmology
2008 Dec;115(12):2286-9.
doi: 10.1016/j.ophtha.2008.08.005.
PMID: 19041481
Therapy
Gunay-Aygun M,
Parisi MA,
Doherty D,
Tuchman M,
Tsilou E,
Kleiner DE,
Huizing M,
Turkbey B,
Choyke P,
Guay-Woodford L,
Heller T,
Szymanska K,
Johnson CA,
Glass I,
Gahl WA
J Pediatr
2009 Sep;155(3):386-92.e1.
Epub 2009 Jun 21
doi: 10.1016/j.jpeds.2009.03.045.
PMID: 19540516Free PMC Article
Prognosis
Fehrenbach MK,
Nestler U,
Meixensberger J,
Bernhard MK,
Merkenschlager A,
Weise S,
Krause M
Childs Nerv Syst
2018 Jul;34(7):1423-1425.
Epub 2018 Mar 5
doi: 10.1007/s00381-018-3767-0.
PMID: 29508057
Zhu L,
Xie L
Medicine (Baltimore)
2017 Dec;96(51):e8626.
doi: 10.1097/MD.0000000000008626.
PMID: 29390414Free PMC Article
Musiime GM,
Kinuthia DMW,
Oyatsi DP,
Manguyu W
BMC Res Notes
2017 Dec 6;10(1):696.
doi: 10.1186/s13104-017-3033-7.
PMID: 29208045Free PMC Article
Van De Weghe JC,
Rusterholz TDS,
Latour B,
Grout ME,
Aldinger KA,
Shaheen R,
Dempsey JC,
Maddirevula S,
Cheng YH,
Phelps IG,
Gesemann M,
Goel H,
Birk OS,
Alanzi T,
Rawashdeh R,
Khan AO;
University of Washington Center for Mendelian Genomics,
Bamshad MJ,
Nickerson DA,
Neuhauss SCF,
Dobyns WB,
Alkuraya FS,
Roepman R,
Bachmann-Gagescu R,
Doherty D
Am J Hum Genet
2017 Jul 6;101(1):23-36.
Epub 2017 Jun 15
doi: 10.1016/j.ajhg.2017.05.010.
PMID: 28625504Free PMC Article
Poretti A,
Snow J,
Summers AC,
Tekes A,
Huisman TAGM,
Aygun N,
Carson KA,
Doherty D,
Parisi MA,
Toro C,
Yildirimli D,
Vemulapalli M,
Mullikin JC;
NISC Comparative Sequencing Program,
Cullinane AR,
Vilboux T,
Gahl WA,
Gunay-Aygun M
J Med Genet
2017 Aug;54(8):521-529.
Epub 2017 Jan 13
doi: 10.1136/jmedgenet-2016-104425.
PMID: 28087721
Clinical prediction guides
Zhu L,
Xie L
Medicine (Baltimore)
2017 Dec;96(51):e8626.
doi: 10.1097/MD.0000000000008626.
PMID: 29390414Free PMC Article
Van De Weghe JC,
Rusterholz TDS,
Latour B,
Grout ME,
Aldinger KA,
Shaheen R,
Dempsey JC,
Maddirevula S,
Cheng YH,
Phelps IG,
Gesemann M,
Goel H,
Birk OS,
Alanzi T,
Rawashdeh R,
Khan AO;
University of Washington Center for Mendelian Genomics,
Bamshad MJ,
Nickerson DA,
Neuhauss SCF,
Dobyns WB,
Alkuraya FS,
Roepman R,
Bachmann-Gagescu R,
Doherty D
Am J Hum Genet
2017 Jul 6;101(1):23-36.
Epub 2017 Jun 15
doi: 10.1016/j.ajhg.2017.05.010.
PMID: 28625504Free PMC Article
Poretti A,
Snow J,
Summers AC,
Tekes A,
Huisman TAGM,
Aygun N,
Carson KA,
Doherty D,
Parisi MA,
Toro C,
Yildirimli D,
Vemulapalli M,
Mullikin JC;
NISC Comparative Sequencing Program,
Cullinane AR,
Vilboux T,
Gahl WA,
Gunay-Aygun M
J Med Genet
2017 Aug;54(8):521-529.
Epub 2017 Jan 13
doi: 10.1136/jmedgenet-2016-104425.
PMID: 28087721
Lehman AM,
Eydoux P,
Doherty D,
Glass IA,
Chitayat D,
Chung BY,
Langlois S,
Yong SL,
Lowry RB,
Hildebrandt F,
Trnka P
Am J Med Genet A
2010 Jun;152A(6):1411-9.
doi: 10.1002/ajmg.a.33416.
PMID: 20503315Free PMC Article
Khan AO,
Oystreck DT,
Seidahmed MZ,
AlDrees A,
Elmalik SA,
Alorainy IA,
Salih MA
Ophthalmology
2008 Dec;115(12):2286-9.
doi: 10.1016/j.ophtha.2008.08.005.
PMID: 19041481