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- [1] Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>CMOLECULAR THERAPY NUCLEIC ACIDS, 2023, 31 : 674 - 688Kaltak, Melita论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, Netherlands Radboud Univ Nijmegen Med Ctr, Dept Human Genet, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen Med Ctr, Acad Alliance Genet, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, Netherlands Maastricht Univ Med Ctr, P Debyelaan 25, NL-6229 HX Maastricht, Netherlands ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, Netherlandsde Bruijn, Petra论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, Netherlands ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, NetherlandsPiccolo, Davide论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, NetherlandsLee, Sang-Eun论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, NetherlandsDulla, Kalyan论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, Netherlands ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, NetherlandsHoogenboezem, Thomas论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, Netherlands ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, NetherlandsBeumer, Wouter论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, Netherlands ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, NetherlandsWebster, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England Moorfields Eye Hosp, 162 City Rd, London EC1V 2PD, England ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, NetherlandsCollin, Rob W. J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen Med Ctr, Acad Alliance Genet, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, Netherlands Maastricht Univ Med Ctr, P Debyelaan 25, NL-6229 HX Maastricht, Netherlands ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, NetherlandsCheetham, Michael E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, NetherlandsPlatenburg, Gerard论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, Netherlands ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, NetherlandsSwildens, Jim论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, Netherlands ProQR Therapeut, Zernikedreef 9, NL-2333 CK Leiden, Netherlands
- [2] The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein levelACTA OPHTHALMOLOGICA, 2017, 95 (03) : 240 - 246Aukrust, Ingvild论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Ctr Med Genet & Mol Med, Jonas Lies Vei 87, N-5021 Bergen, Norway Haukeland Hosp, Ctr Med Genet & Mol Med, Jonas Lies Vei 87, N-5021 Bergen, NorwayJansson, Ragnhild W.论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Ophthalmol, Bergen, Norway Univ Bergen, Dept Clin Med, Bergen, Norway Haukeland Hosp, Ctr Med Genet & Mol Med, Jonas Lies Vei 87, N-5021 Bergen, NorwayBredrup, Cecilie论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Ophthalmol, Bergen, Norway Haukeland Hosp, Ctr Med Genet & Mol Med, Jonas Lies Vei 87, N-5021 Bergen, NorwayRusaas, Hilde E.论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Ctr Med Genet & Mol Med, Jonas Lies Vei 87, N-5021 Bergen, Norway Haukeland Hosp, Ctr Med Genet & Mol Med, Jonas Lies Vei 87, N-5021 Bergen, NorwayBerland, Siren论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Ctr Med Genet & Mol Med, Jonas Lies Vei 87, N-5021 Bergen, Norway Haukeland Hosp, Ctr Med Genet & Mol Med, Jonas Lies Vei 87, N-5021 Bergen, NorwayJorgensen, Agnete论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp North Norway, Div Child & Adolescent Hlth, Med Genet Dept, Tromso, Norway Haukeland Hosp, Ctr Med Genet & Mol Med, Jonas Lies Vei 87, N-5021 Bergen, NorwayHaug, Marte G.论文数: 0 引用数: 0 h-index: 0机构: St Olavs Univ Hosp, Dept Pathol & Med Genet, Trondheim, Norway Haukeland Hosp, Ctr Med Genet & Mol Med, Jonas Lies Vei 87, N-5021 Bergen, NorwayRodahl, Eyvind论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Ophthalmol, Bergen, Norway Univ Bergen, Dept Clin Med, Bergen, Norway Haukeland Hosp, Ctr Med Genet & Mol Med, Jonas Lies Vei 87, N-5021 Bergen, NorwayHouge, Gunnar论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Ctr Med Genet & Mol Med, Jonas Lies Vei 87, N-5021 Bergen, Norway Haukeland Hosp, Ctr Med Genet & Mol Med, Jonas Lies Vei 87, N-5021 Bergen, NorwayKnappskog, Per M.论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Ctr Med Genet & Mol Med, Jonas Lies Vei 87, N-5021 Bergen, Norway Univ Bergen, Dept Clin Sci, Bergen, Norway Haukeland Hosp, Ctr Med Genet & Mol Med, Jonas Lies Vei 87, N-5021 Bergen, Norway
- [3] QR-1011 corrects splicing in the Stargardt disease type 1-causing variant ABCA4 c.5461-10T>CINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2022, 63 (07)Kaltak, Melita论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeut NV, Leiden, Zuid Holland, Netherlands Radboud Univ Nijmegen, Nijmegen, Gelderland, Netherlands ProQR Therapeut NV, Leiden, Zuid Holland, Netherlandsde Bruijn, Petra论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeut NV, Leiden, Zuid Holland, Netherlands ProQR Therapeut NV, Leiden, Zuid Holland, NetherlandsLee, Sang-Eun论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England ProQR Therapeut NV, Leiden, Zuid Holland, NetherlandsPiccolo, Davide论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England ProQR Therapeut NV, Leiden, Zuid Holland, NetherlandsDulla, Kalyan论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeut NV, Leiden, Zuid Holland, Netherlands ProQR Therapeut NV, Leiden, Zuid Holland, NetherlandsCollin, Rob W. J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Nijmegen, Gelderland, Netherlands ProQR Therapeut NV, Leiden, Zuid Holland, NetherlandsCheetham, Michael E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England ProQR Therapeut NV, Leiden, Zuid Holland, NetherlandsPlatenburg, Gerard论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeut NV, Leiden, Zuid Holland, Netherlands ProQR Therapeut NV, Leiden, Zuid Holland, NetherlandsSwildens, Jim论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeut NV, Leiden, Zuid Holland, Netherlands ProQR Therapeut NV, Leiden, Zuid Holland, Netherlands
- [4] Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt diseaseEUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 193 - 194Naessens, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet, Ghent, Belgium Ghent Univ Hosp, Ghent, Belgium Univ Ghent, Ctr Med Genet, Ghent, BelgiumGaranto, A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Med Ctr, Nijmegen, Netherlands Univ Ghent, Ctr Med Genet, Ghent, Belgium论文数: 引用数: h-index:机构:Sangermano, R.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Med Ctr, Nijmegen, Netherlands Univ Ghent, Ctr Med Genet, Ghent, BelgiumBalikova, I.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Ophthalmol, Ghent, Belgium Univ Ghent, Ghent, Belgium Univ Ghent, Ctr Med Genet, Ghent, Belgium论文数: 引用数: h-index:机构:Cremers, F. P.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Med Ctr, Nijmegen, Netherlands Univ Ghent, Ctr Med Genet, Ghent, Belgium论文数: 引用数: h-index:机构:Collin, R. W.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Med Ctr, Nijmegen, Netherlands Univ Ghent, Ctr Med Genet, Ghent, Belgium
- [5] Antisense oligonucleotide-based correction of the splicing defect caused by the c.769-784C>T variant in ABCA4INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2022, 63 (07)Tomkiewicz, Tomasz Zbigniew论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Gelderland, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Gelderland, Netherlands Radboudumc, Dept Human Genet, Nijmegen, Gelderland, NetherlandsNieuwenhuis, Sara论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Gelderland, Netherlands Radboudumc, Dept Human Genet, Nijmegen, Gelderland, NetherlandsCremers, Frans P.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Gelderland, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Gelderland, Netherlands Radboudumc, Dept Human Genet, Nijmegen, Gelderland, NetherlandsGaranto, Alejandro论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Gelderland, Netherlands Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Nijmegen, Gelderland, Netherlands Radboudumc, Dept Human Genet, Nijmegen, Gelderland, NetherlandsCollin, Rob W. J.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Gelderland, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Gelderland, Netherlands Radboudumc, Dept Human Genet, Nijmegen, Gelderland, Netherlands
- [6] Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T → C Mutation in Stargardt DiseaseOPHTHALMOLOGY, 2016, 123 (06) : 1375 - 1385Sangermano, Riccardo论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Inst Mol Life Sci, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsBax, Nathalie M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Ophthalmol, Med Ctr, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands论文数: 引用数: h-index:机构:van den Born, L. Ingeborgh论文数: 0 引用数: 0 h-index: 0机构: Rotterdam Eye Hosp, Rotterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands论文数: 引用数: h-index:机构:Garanto, Alejandro论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Inst Mol Life Sci, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsCollin, Rob W. J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Inst Mol Life Sci, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsGoercharn-Ramlal, Angelique S. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlandsden Engelsman-van Dijk, Anke H. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsRohrschneider, Klaus论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Univ Augenklin, Heidelberg, Germany Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsHoyng, Carel B.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Ophthalmol, Med Ctr, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsCremers, Frans P. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Inst Mol Life Sci, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsAlbert, Silvia论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Inst Mol Life Sci, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands
- [7] Using induced pluripotent stem cell-derived retinal pigment epithelial cells to model splicing defects of ABCA4 c.5461-10T>C detected in an Australian Stargardt disease cohortINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2021, 62 (08)Huang, Di论文数: 0 引用数: 0 h-index: 0机构: Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, Australia Perron Inst Neurol & Translat Sci, Ctr Neuromuscular & Neurol Disorders, Perth, WA, Australia Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, AustraliaThompson, Jennifer A.论文数: 0 引用数: 0 h-index: 0机构: Sir Charles Gairdner Hosp, Australian Inherited Retinal Dis Registry, Dept Med Technol & Phys, Nedlands, WA, Australia Sir Charles Gairdner Hosp, DNA Bank, Dept Med Technol & Phys, Nedlands, WA, Australia Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, AustraliaMcLenachan, Samuel论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Ctr Ophthalmol & Visual Sci, Perth, WA, Australia Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, AustraliaChen, Shang-Chih论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Ctr Ophthalmol & Visual Sci, Perth, WA, Australia Lions Eye Inst, Nedlands, WA, Australia Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, AustraliaZhang, Dan论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Ctr Ophthalmol & Visual Sci, Perth, WA, Australia Lions Eye Inst, Nedlands, WA, Australia Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, AustraliaJeffery, Rachael C. Heath论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Ctr Ophthalmol & Visual Sci, Perth, WA, Australia Lions Eye Inst, Nedlands, WA, Australia Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, AustraliaAttia, Mary论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Ctr Ophthalmol & Visual Sci, Perth, WA, Australia Lions Eye Inst, Nedlands, WA, Australia Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, AustraliaMcLaren, Terri L.论文数: 0 引用数: 0 h-index: 0机构: Sir Charles Gairdner Hosp, Australian Inherited Retinal Dis Registry, Dept Med Technol & Phys, Nedlands, WA, Australia Sir Charles Gairdner Hosp, DNA Bank, Dept Med Technol & Phys, Nedlands, WA, Australia Univ Western Australia, Ctr Ophthalmol & Visual Sci, Perth, WA, Australia Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, AustraliaLamey, Tina M.论文数: 0 引用数: 0 h-index: 0机构: Sir Charles Gairdner Hosp, Australian Inherited Retinal Dis Registry, Dept Med Technol & Phys, Nedlands, WA, Australia Sir Charles Gairdner Hosp, DNA Bank, Dept Med Technol & Phys, Nedlands, WA, Australia Univ Western Australia, Ctr Ophthalmol & Visual Sci, Perth, WA, Australia Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, AustraliaDe Roach, John N.论文数: 0 引用数: 0 h-index: 0机构: Sir Charles Gairdner Hosp, Australian Inherited Retinal Dis Registry, Dept Med Technol & Phys, Nedlands, WA, Australia Sir Charles Gairdner Hosp, DNA Bank, Dept Med Technol & Phys, Nedlands, WA, Australia Univ Western Australia, Ctr Ophthalmol & Visual Sci, Perth, WA, Australia Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, AustraliaAung-Htut, May Thandar论文数: 0 引用数: 0 h-index: 0机构: Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, Australia Perron Inst Neurol & Translat Sci, Ctr Neuromuscular & Neurol Disorders, Perth, WA, Australia Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, AustraliaAdams, Abbie论文数: 0 引用数: 0 h-index: 0机构: Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, Australia Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, AustraliaFletcher, Sue论文数: 0 引用数: 0 h-index: 0机构: Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, Australia Perron Inst Neurol & Translat Sci, Ctr Neuromuscular & Neurol Disorders, Perth, WA, Australia Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, AustraliaWilton, Steve论文数: 0 引用数: 0 h-index: 0机构: Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, Australia Perron Inst Neurol & Translat Sci, Ctr Neuromuscular & Neurol Disorders, Perth, WA, Australia Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, AustraliaChen, Fred Kuanfu论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Ctr Ophthalmol & Visual Sci, Perth, WA, Australia Lions Eye Inst, Nedlands, WA, Australia Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Perth, WA, Australia
- [8] Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patientsANNALES DE BIOLOGIE CLINIQUE, 2013, 71 (06) : 645 - 651Chouchenel, Ibtissem论文数: 0 引用数: 0 h-index: 0机构: Inst Hedi Rais Ophtalmol, Unite Rech Oculogenet, Serv B, Tunis, Tunisia Inst Hedi Rais Ophtalmol, Unite Rech Oculogenet, Serv B, Tunis, TunisiaLargueche, Leila论文数: 0 引用数: 0 h-index: 0机构: Inst Hedi Rais Ophtalmol, Unite Rech Oculogenet, Serv B, Tunis, Tunisia Inst Hedi Rais Ophtalmol, Unite Rech Oculogenet, Serv B, Tunis, TunisiaOuechtati, Farah论文数: 0 引用数: 0 h-index: 0机构: Inst Hedi Rais Ophtalmol, Unite Rech Oculogenet, Serv B, Tunis, Tunisia Inst Pasteur Tunis, Lab Genom Biomed & Oncogenet, Tunis, Tunisia Inst Hedi Rais Ophtalmol, Unite Rech Oculogenet, Serv B, Tunis, TunisiaDerouiche, Kawthar论文数: 0 引用数: 0 h-index: 0机构: Inst Hedi Rais Ophtalmol, Unite Rech Oculogenet, Serv B, Tunis, Tunisia Inst Hedi Rais Ophtalmol, Unite Rech Oculogenet, Serv B, Tunis, TunisiaTurki, Ahmed论文数: 0 引用数: 0 h-index: 0机构: Inst Hedi Rais Ophtalmol, Unite Rech Oculogenet, Serv B, Tunis, Tunisia Inst Pasteur Tunis, Lab Genom Biomed & Oncogenet, Tunis, Tunisia Inst Hedi Rais Ophtalmol, Unite Rech Oculogenet, Serv B, Tunis, TunisiaAbdelhak, Sonia论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur Tunis, Lab Genom Biomed & Oncogenet, Tunis, Tunisia Inst Hedi Rais Ophtalmol, Unite Rech Oculogenet, Serv B, Tunis, TunisiaEl Matri, Leila论文数: 0 引用数: 0 h-index: 0机构: Inst Hedi Rais Ophtalmol, Unite Rech Oculogenet, Serv B, Tunis, Tunisia Inst Hedi Rais Ophtalmol, Unite Rech Oculogenet, Serv B, Tunis, Tunisia
- [9] Correction of the Splicing Defect Caused by a Recurrent Variant in ABCA4 (c.769-784C>T) That Underlies Stargardt DiseaseCELLS, 2022, 11 (24)Tomkiewicz, Tomasz Z. Z.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behaviou r, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsNieuwenhuis, Sara E. E.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behaviou r, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsCremers, Frans P. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behaviou r, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsGaranto, Alejandro论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Amalia Childrens Hosp, Dept Pediat,Human Genet & Radboud Inst Mol Life Sc, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsCollin, Rob W. J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behaviou r, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands
- [10] Homozygous c.1937+1G>A splice-site variant of the ABCA4 gene is associated with Stargardt diseaseEUROPEAN JOURNAL OF OPHTHALMOLOGY, 2014, 24 (05) : 814 - 817论文数: 引用数: h-index:机构:Grignolo, Federico M.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Eye Clin, Dept Surg Sci, I-10122 Turin, Italy Univ Turin, Eye Clin, Dept Surg Sci, I-10122 Turin, ItalyPasserini, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Careggi, Dept Genet Diag, Florence, Italy Univ Turin, Eye Clin, Dept Surg Sci, I-10122 Turin, ItalyMarchese, Cristiana论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Ordine Mauriziano, Dept Clin Pathol, Turin, Italy Univ Turin, Eye Clin, Dept Surg Sci, I-10122 Turin, Italy