All individuals with variants in gene ZNF408

52 entries on 1 page. Showing entries 1 - 52.
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00233187 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 4 Yoshito Koyanagi
00233188 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 565 Yoshito Koyanagi
00233189 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233190 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 6 Yoshito Koyanagi
00233191 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233192 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233193 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233194 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233195 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 3 Yoshito Koyanagi
00233196 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233197 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 3 Yoshito Koyanagi
00233198 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233199 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233200 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233201 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233772 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 467 Yoshito Koyanagi
00263908 RP-0332 II:1 PubMed: Avila-Fernandez 2015 2-generation family, 2 affected (siblings) F ? Spain - - - - - RP72, retinal disease retinitis pigmentosa (HP:0000510), night blindness (HP:0000662), retinal pigment epithelium atrophy (HP:0007791), photophobia (HP:0000613), visual field loss (HP:0007994), posterior subcapsular cataract (HP:0007787) 1 2 Jasmine Chen
00263960 RP-0332 II:2 PubMed: Avila-Fernandez 2015 2 generation family, 2 affected (siblings) F ? Spain - - - - - RP72, retinal disease retinitis pigmentosa (HP:0000510), night blindness (HP:0000662), progressive loss of visual acuity (HP:0000529), photophobia (HP:0000613), visual field loss (HP:0007994), posterior subcapsular cataract (HP:0007787) 1 1 Jasmine Chen
00263961 RP-0976 II:2 PubMed: Avila-Fernandez 2015 3 generation family, 1 affected M yes Spain - - - - - RP72, retinal disease retinitis pigmentosa (HP:0000510), field constriction (HP: 0007994), atrophy of retinal pigment epithelium (HP:0007722), high myopia (HP:0011003) 1 1 Jasmine Chen
00263962 Individual 3 PubMed: Avila-Fernandez 2015 - ? ? Spain - - - - - RP72, retinal disease retinitis pigmentosa (HP:0000510) 1 1 Jasmine Chen
00263963 Individual 4 PubMed: Avila-Fernandez 2015 - ? ? Spain - - - - - RP72, retinal disease retinitis pigmentosa (HP: 0000510) 1 1 Jasmine Chen
00263964 PKRD320 III:4 PubMed: Biswas 2018 3-generation family, 3 affected M yes Pakistan - - - - - retinal degeneration, retinal disease inherited retinal degeneration (HP:0000546), retinal dystrophy (HP:0000556) 1 3 Jasmine Chen
00263965 PKRD320 III:7 PubMed: Biswas 2018 PatIII7 F yes Pakistan - - - - - retinal degeneration - 1 1 Jasmine Chen
00263971 W05-215 III:5 PubMed: Collin 2013 5-generation family, 12 affected M no Netherlands - - - - diathermy EVR6, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), left eye retinal detachment (HP:0000541), 1 12 Jasmine Chen
00263981 W05-215 V:2 PubMed: Collin 2013 PatV2 F no Netherlands - - - - - EVR6, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), left eye falciform retinal fold (HP:0001493) 1 1 Jasmine Chen
00264047 W05-220 IV:3 PubMed: Collin 2013 5 generation family, 2 affected; related to family W05-215 of same study by common ancestor M no Netherlands - - - - - EVR6, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490) 1 2 Jasmine Chen
00264048 W05-220 V:2 PubMed: Collin 2013 PatV2 M no Netherlands - - - - - EVR6, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), horizontal nystagmus (HP:0000666) 1 1 Jasmine Chen
00264049 F117 II:2 PubMed: Collin 2013 2 generation family, 2 affected M no Japan - - - - laser photocoagulation EVR6, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), retinal hole (HP:0011530) 1 2 Jasmine Chen
00264050 F117 I:1 PubMed: Collin 2013 PatI1 M no Japan - - - - - EVR6, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), exudative retinal detachment (HP:0012231), 1 1 Jasmine Chen
00264051 Habibi 2017 Patient IV:1 PubMed: Habibi 2017 4 generation family, 3 affected F yes Tunisia - - - - - RP72, retinal disease retinitis pigmentosa (HP: 0000510), macular oedema (HP:0040049), cataract (HP:0000518), high myopia (HP:0011003) 1 3 Jasmine Chen
00264052 Habibi 2017 Patient IV:2 PubMed: Habibi 2017 PatIV2 F yes Tunisia - - - - - RP72, retinal disease retinitis pigmentosa (HP:0000510), cataract (HP:0000518), high myopia (HP:0011003) 1 1 Jasmine Chen
00264053 Habibi 2017 Patient IV:4 PubMed: Habibi 2017 PatIV4 F yes Tunisia - - - - - RP72, retinal disease retinitis pigmentosa (HP:0000510), high myopia (HP:0011003), cataract (HP:0000518) 1 1 Jasmine Chen
00274322 Patient 1 PubMed: Weiner 2019 Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, and Coloboma Syndrome (MPPC) ORPHA:231736 F ? United States - - - - - - - 1 1 Jasmine Chen
00309514 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309515 - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - retinal disease - 1 2 Global Variome, with Curator vacancy
00331311 Fam PubMed: Su 2018 2-generation family, affected mother/child F - China - - - - - retinal disease see paper; ... 1 2 Johan den Dunnen
00333888 108 PubMed: Stone 2017 1 affected F - (United States) - - - - - retinal disease clinical category IA1a 2 1 LOVD
00333889 109 PubMed: Stone 2017 1 affected F - (United States) - - - - - retinal disease clinical category IA1a 2 1 LOVD
00335297 Pat101 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - retinal disease see paper; ... 2 1 Nereida Bravo Gil
00358963 Case71762 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00358988 Fam6 PubMed: Musada 2016 see paper - - India - - - - - retinal disease see paper; ... 1 1 LOVD
00358998 Fam16 PubMed: Musada 2016 see paper - - India - - - - - retinal disease see paper; ... 1 1 LOVD
00358999 Fam17 PubMed: Musada 2016 see paper - yes India - - - - - retinal disease see paper; ... 1 1 LOVD
00373461 14022004 PubMed: Salvo 2015 family - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00380757 10 PubMed: Li 2018 - M - China - - - - - retinal disease - 1 1 LOVD
00380758 11 PubMed: Li 2018 - F - China - - - - - retinal disease - 1 1 LOVD
00380759 12 PubMed: Li 2018 - M - China - - - - - retinal disease - 1 1 LOVD
00383726 16 PubMed: Tian 2019 - ? - China - - - - - retinal disease Total RD, unilateral, OS 1 1 LOVD
00383727 17 PubMed: Tian 2019 - ? - China - - - - - retinal disease Temporal, unilateral, OS 1 1 LOVD
00383954 RP-0976 PubMed: Martin Merida 2019 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00396592 - PubMed: Numa 2020 - M - Japan Japanese - - - - retinal disease night blindness 1 1 LOVD
00413038 ? PubMed: Tanenbaum 2020 - M - Dominican Republic - - - - - retinal disease born at 34 weeks’ gestation after an uncomplicated pregnancy, 10-day NICU stay due to respiratory distress that required intubation on the first day of life and 6 days of oxygen support; 25d: evaluated by a retina specialist and diagnosed with retinopathy of prematurity, in the presence of plus disease; bilateral intravitreal ranibizumab injections at a corrected gestational age of 38 weeks; 10m: both eyes: intraocular pressure was normal and the anterior segment was unremarkable; indirect ophthalmoscopy viewing in 360° with scleral depression: notable for incomplete vascularization without vascular tortuosity bilaterally; fluorescein angiography: peripheral avascularity, irregular sprouts of vascularization, and pruning of vessels without any area of leakage; optical coherence tomography and optical coherence tomography-angiography of the macula: normal findings in both eyes; A and B-scan of both eyes: no abnormality; treated with diode laser in the avascular zone of both eyes as well as intravitreal injions of bevacizumab bilaterally; last follow-up 3 months after examination and treatment, the patient remained stable 1 1 LOVD
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