137 related articles for article (PubMed ID: 31203166)
1. Generation of a human iPSC line, INMi003-A, with a missense mutation in CRX associated with autosomal dominant cone-rod dystrophy.
Erkilic N; Sanjurjo-Soriano C; Diakatou M; Manes G; Dubois G; Hamel CP; Meunier I; Kalatzis V
Stem Cell Res; 2019 Jul; 38():101478. PubMed ID: 31203166
[TBL] [Abstract][Full Text] [Related]
2. Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis.
Erkilic N; Sanjurjo-Soriano C; Manes G; Dubois G; Hamel CP; Meunier I; Kalatzis V
Stem Cell Res; 2019 Jul; 38():101476. PubMed ID: 31247521
[TBL] [Abstract][Full Text] [Related]
3. Incomplete penetrance of
Chapi M; Sabbaghi H; Suri F; Alehabib E; Rahimi-Aliabadi S; Jamali F; Jamshidi J; Emamalizadeh B; Darvish H; Mirrahimi M; Ahmadieh H; Daftarian N
Ophthalmic Genet; 2019 Jun; 40(3):259-266. PubMed ID: 31215831
[No Abstract] [Full Text] [Related]
4. Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Yi Z; Xiao X; Li S; Sun W; Zhang Q
Exp Eye Res; 2019 Dec; 189():107846. PubMed ID: 31626798
[TBL] [Abstract][Full Text] [Related]
5. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.
Sohocki MM; Sullivan LS; Mintz-Hittner HA; Birch D; Heckenlively JR; Freund CL; McInnes RR; Daiger SP
Am J Hum Genet; 1998 Nov; 63(5):1307-15. PubMed ID: 9792858
[TBL] [Abstract][Full Text] [Related]
6. Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.
Lines MA; Hébert M; McTaggart KE; Flynn SJ; Tennant MT; MacDonald IM
Ophthalmology; 2002 Oct; 109(10):1862-70. PubMed ID: 12359607
[TBL] [Abstract][Full Text] [Related]
7. Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids.
Kruczek K; Qu Z; Gentry J; Fadl BR; Gieser L; Hiriyanna S; Batz Z; Samant M; Samanta A; Chu CJ; Campello L; Brooks BP; Wu Z; Swaroop A
Stem Cell Reports; 2021 Feb; 16(2):252-263. PubMed ID: 33513359
[TBL] [Abstract][Full Text] [Related]
8. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.
Swaroop A; Wang QL; Wu W; Cook J; Coats C; Xu S; Chen S; Zack DJ; Sieving PA
Hum Mol Genet; 1999 Feb; 8(2):299-305. PubMed ID: 9931337
[TBL] [Abstract][Full Text] [Related]
9. A recurrent arcuate retinopathy in familial cone-rod dystrophy secondary to heterozygous
Khan AO; Neri P; Al Teneiji AM
Ophthalmic Genet; 2019 Dec; 40(6):493-499. PubMed ID: 31743059
[No Abstract] [Full Text] [Related]
10. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.
Swain PK; Chen S; Wang QL; Affatigato LM; Coats CL; Brady KD; Fishman GA; Jacobson SG; Swaroop A; Stone E; Sieving PA; Zack DJ
Neuron; 1997 Dec; 19(6):1329-36. PubMed ID: 9427255
[TBL] [Abstract][Full Text] [Related]
11. Generation of a human iPSC line from a patient with retinitis pigmentosa caused by mutation in PRPF8 gene.
Lukovic D; Bolinches-Amorós A; Artero-Castro A; Pascual B; Carballo M; Hernan I; Erceg S
Stem Cell Res; 2017 May; 21():23-25. PubMed ID: 28677533
[TBL] [Abstract][Full Text] [Related]
12. Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type.
Richard E; Brasil S; Briso-Montiano A; Alonso-Barroso E; Gallardo ME; Merinero B; Ugarte M; Desviat LR; Pérez B
Stem Cell Res; 2018 May; 29():143-147. PubMed ID: 29660608
[TBL] [Abstract][Full Text] [Related]
13. Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene.
Domingo-Prim J; Riera M; Burés-Jelstrup A; Corcostegui B; Pomares E
Stem Cell Res; 2019 Jul; 38():101468. PubMed ID: 31146251
[TBL] [Abstract][Full Text] [Related]
14. Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.
Terray A; Slembrouck A; Nanteau C; Chondroyer C; Zeitz C; Sahel JA; Audo I; Reichman S; Goureau O
Stem Cell Res; 2017 Oct; 24():1-4. PubMed ID: 29034877
[TBL] [Abstract][Full Text] [Related]
15. An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous p.L302P (c.905 T>C) mutation in the SMPD1 gene.
Baskfield A; Li R; Beers J; Zou J; Liu C; Zheng W
Stem Cell Res; 2019 Jul; 38():101461. PubMed ID: 31132580
[TBL] [Abstract][Full Text] [Related]
16. A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report.
Wang L; Qi A; Pan H; Liu B; Feng J; Chen W; Wang B
Medicine (Baltimore); 2018 Aug; 97(32):e11499. PubMed ID: 30095615
[TBL] [Abstract][Full Text] [Related]
17. Ocular findings in a Japanese family with an Arg41Trp mutation of the CRX gene.
Itabashi T; Wada Y; Sato H; Kunikata H; Kawamura M; Tamai M
Graefes Arch Clin Exp Ophthalmol; 2003 Jul; 241(7):535-540. PubMed ID: 12819982
[TBL] [Abstract][Full Text] [Related]
18. Generation of an integration-free human induced pluripotent stem cell line MUSIi010-A from occipital scalp fibroblasts of a male patient with androgenetic alopecia.
Tantarungsee N; Bostan Ali Z; Soi-Ampornkul R; Rujitharanawong C; Subchookul C; Ritthaphai A; Boonkaew B; Wattanapanitch M; Thanomkitti K; Triwongwaranat D; Vatanashevanopakorn C; Thuangtong R
Stem Cell Res; 2019 Jul; 38():101486. PubMed ID: 31228683
[TBL] [Abstract][Full Text] [Related]
19. Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX Variant.
D'Esposito F; Cennamo G; de Crecchio G; Maltese PE; Cecchin S; Bertelli M; Ziccardi L; Esposito Veneruso P; Magli A; Cennamo G; Cordeiro MF
Ophthalmic Res; 2018; 60(3):169-175. PubMed ID: 30078014
[TBL] [Abstract][Full Text] [Related]
20. Generation of induced pluripotent stem cells (iPSCs) IRMBi002-A from an Alzheimer's disease patient carrying a D694N mutation in the APP gene.
Auboyer L; Monzo C; Wallon D; Rovelet-Lecrux A; Gabelle A; Gazagne I; Cacheux V; Lehmann S; Crozet C
Stem Cell Res; 2019 May; 37():101438. PubMed ID: 31004935
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]