共 50 条
- [21] Landscape of Mutations in 25 Glaucoma, Anterior Segment Dysgenesis, Myopia and Optic Atrophy-Associated Genes in Primary Congenital GlaucomaINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017, 58 (08)Kabra, Meha论文数: 0 引用数: 0 h-index: 0机构: LV Prasad Eye Inst, Prof Brien Holden Eye Res Ctr, Kallam Anji Reddy Mol Genet Lab, Hyderabad, Telangana, India LV Prasad Eye Inst, Prof Brien Holden Eye Res Ctr, Kallam Anji Reddy Mol Genet Lab, Hyderabad, Telangana, IndiaPyatla, Goutham论文数: 0 引用数: 0 h-index: 0机构: LV Prasad Eye Inst, Prof Brien Holden Eye Res Ctr, Kallam Anji Reddy Mol Genet Lab, Hyderabad, Telangana, India LV Prasad Eye Inst, Prof Brien Holden Eye Res Ctr, Kallam Anji Reddy Mol Genet Lab, Hyderabad, Telangana, IndiaMandal, Anil K.论文数: 0 引用数: 0 h-index: 0机构: LV Prasad Eye Inst, Jasti V Ramanamma Childrens Eye Care Ctr, Hyderabad, Telangana, India LV Prasad Eye Inst, Prof Brien Holden Eye Res Ctr, Kallam Anji Reddy Mol Genet Lab, Hyderabad, Telangana, IndiaSenthil, Sirisha论文数: 0 引用数: 0 h-index: 0机构: LV Prasad Eye Inst, Jasti V Ramanamma Childrens Eye Care Ctr, Hyderabad, Telangana, India LV Prasad Eye Inst, Prof Brien Holden Eye Res Ctr, Kallam Anji Reddy Mol Genet Lab, Hyderabad, Telangana, IndiaKaur, Inderjeet论文数: 0 引用数: 0 h-index: 0机构: LV Prasad Eye Inst, Prof Brien Holden Eye Res Ctr, Kallam Anji Reddy Mol Genet Lab, Hyderabad, Telangana, India LV Prasad Eye Inst, Prof Brien Holden Eye Res Ctr, Kallam Anji Reddy Mol Genet Lab, Hyderabad, Telangana, IndiaChakrabarti, Subhabrata论文数: 0 引用数: 0 h-index: 0机构: LV Prasad Eye Inst, Prof Brien Holden Eye Res Ctr, Kallam Anji Reddy Mol Genet Lab, Hyderabad, Telangana, India LV Prasad Eye Inst, Prof Brien Holden Eye Res Ctr, Kallam Anji Reddy Mol Genet Lab, Hyderabad, Telangana, India
- [22] The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56SCIENTIFIC REPORTS, 2020, 10 (01)Almoallem, Basamat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 King Saud Univ, King Abdul Aziz Univ Hosp, Dept Ophthalmol, Coll Med, Riyadh, Saudi Arabia Univ Ghent, Ctr Med Genet, Ghent, BelgiumArno, Gavin论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Dept Ophthalmol, London, England Univ Ghent, Ctr Med Genet, Ghent, BelgiumDe Zaeytijd, Julie论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ghent, Belgium Univ Ghent, Dept Ophthalmol, Ghent, Belgium Univ Ghent, Ctr Med Genet, Ghent, BelgiumVerdin, Hannah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, BelgiumBalikova, Irina论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ghent, Belgium Univ Ghent, Dept Ophthalmol, Ghent, Belgium Univ Ghent, Ctr Med Genet, Ghent, BelgiumCasteels, Ingele论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Ophthalmol, Leuven, Belgium Univ Ghent, Ctr Med Genet, Ghent, Belgiumde Ravel, Thomy论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Ctr Human Genet, Leuven, Belgium Univ Ghent, Ctr Med Genet, Ghent, BelgiumHull, Sarah论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Dept Ophthalmol, London, England Univ Ghent, Ctr Med Genet, Ghent, BelgiumSuzani, Martina论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Dept Ophthalmol, London, England Univ Ghent, Ctr Med Genet, Ghent, BelgiumDestree, Anne论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet IPG, Dept Human Genet, Charleroi, Belgium Univ Ghent, Ctr Med Genet, Ghent, BelgiumPeng, Michelle论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Ophthalmol, San Francisco, CA USA Univ Ghent, Ctr Med Genet, Ghent, BelgiumWilliams, Denise论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens NHS Fdn Trust, Birmingham, W Midlands, England Univ Ghent, Ctr Med Genet, Ghent, BelgiumAinsworth, John R.论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens NHS Fdn Trust, Birmingham, W Midlands, England Univ Ghent, Ctr Med Genet, Ghent, BelgiumWebster, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Dept Ophthalmol, London, England Univ Ghent, Ctr Med Genet, Ghent, Belgium论文数: 引用数: h-index:机构:Moore, Anthony T.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Dept Ophthalmol, London, England Univ Calif San Francisco, Dept Ophthalmol, San Francisco, CA USA Univ Ghent, Ctr Med Genet, Ghent, Belgium论文数: 引用数: h-index:机构:
- [23] PRSS56 inactivation induced retinal expression of ADAMTS19 ameliorates ocular axial length reduction/hyperopiaINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)Koli, Swanand论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Ophthalmol, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Ophthalmol, San Francisco, CA 94143 USALabelle-Dumais, Cassandre论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Ophthalmol, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Ophthalmol, San Francisco, CA 94143 USAPaylakhi, Sayyedhassan论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Ophthalmol, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Ophthalmol, San Francisco, CA 94143 USAChi, Vivian论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Ophthalmol, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Ophthalmol, San Francisco, CA 94143 USANair, Saidas论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Ophthalmol, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Anat, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Ophthalmol, San Francisco, CA 94143 USA
- [24] Rhegmatogenous retinal detachment associated with primary congenital glaucomaInternational Ophthalmology, 2008, 28 (5) : 369 - 371Satofuka S.论文数: 0 引用数: 0 h-index: 0机构: Department of Ophthalmology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-0016 Department of Ophthalmology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-0016Imamura Y.论文数: 0 引用数: 0 h-index: 0机构: Department of Ophthalmology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-0016 Department of Ophthalmology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-0016Ishida S.论文数: 0 引用数: 0 h-index: 0机构: Department of Ophthalmology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-0016 Department of Ophthalmology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-0016Ozawa Y.论文数: 0 引用数: 0 h-index: 0机构: Department of Ophthalmology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-0016 Department of Ophthalmology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-0016论文数: 引用数: h-index:机构:Inoue M.论文数: 0 引用数: 0 h-index: 0机构: Kyorin Eye Center, Kyorin University School of Medicine, Tokyo Department of Ophthalmology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-0016
- [25] Null Mutations in LTBP2 cause Primary Congenital GlaucomaJOURNAL OF MEDICAL GENETICS, 2009, 46 : S27 - S27Ali, Manir论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, EnglandMcKibbin, M.论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Eye Dept, Chancellor Wing, Leeds, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, EnglandBooth, A.论文数: 0 引用数: 0 h-index: 0机构: Peninsula Med Sch, Plymouth, Devon, England Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, EnglandParry, D. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, EnglandRiazuddin, S. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore, Pakistan Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, EnglandHejtmancik, J. F.论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USA Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, EnglandKhan, S. N.论文数: 0 引用数: 0 h-index: 0机构: Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore, Pakistan Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, EnglandFirasat, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore, Pakistan Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, EnglandShires, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, EnglandGilmour, D. F.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, EnglandTowns, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, EnglandAzmanov, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Med Res Ctr, Perth, WA 6009, Australia Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, EnglandTournev, I.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Neurol, Sofia, Bulgaria Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, EnglandCherninkova, S.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Neurol, Sofia, Bulgaria Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, EnglandJafri, H.论文数: 0 引用数: 0 h-index: 0机构: Gene Tech Lab 146 1, Lahore, Pakistan Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, EnglandRaashid, Y.论文数: 0 引用数: 0 h-index: 0机构: Gene Tech Lab 146 1, Lahore, Pakistan Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, England论文数: 引用数: h-index:机构:Kalaydjieva, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Med Res Ctr, Perth, WA 6009, Australia Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, EnglandRiazuddin, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore, Pakistan Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, EnglandInglehearn, C. F.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, England
- [26] Null Mutations in LTBP2 Cause Primary Congenital GlaucomaAMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (05) : 664 - 671Ali, Manir论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandMcKibbin, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England St James Univ Hosp, Eye Dept, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandBooth, Adam论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England Peninsula Med Sch, Plymouth PL6 8BU, Devon, England Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandParry, David A.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandJain, Payal论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandRiazuddin, S. Amer论文数: 0 引用数: 0 h-index: 0机构: Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore 53700, Pakistan Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandHejtmancik, J. Fielding论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USA Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandKhan, Shaheen N.论文数: 0 引用数: 0 h-index: 0机构: Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore 53700, Pakistan Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandFirasat, Sabika论文数: 0 引用数: 0 h-index: 0机构: Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore 53700, Pakistan Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandShires, Mike论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandGilmour, David F.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England St James Univ Hosp, Eye Dept, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandTowns, Katherine论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandMurphy, Anna-Louise论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandAzmanov, Dimitar论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Med Res Ctr, Perth, WA 6009, Australia Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandTournev, Ivailo论文数: 0 引用数: 0 h-index: 0机构: Med Univ, Dept Neurol, Sofia 1431, Bulgaria Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandCherninkova, Sylvia论文数: 0 引用数: 0 h-index: 0机构: Med Univ, Dept Neurol, Sofia 1431, Bulgaria Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandJafri, Hussain论文数: 0 引用数: 0 h-index: 0机构: Gene Tech Lab, Lahore 54000, Pakistan Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandRaashid, Yasmin论文数: 0 引用数: 0 h-index: 0机构: King Edward Med Univ, Dept Obstet & Gynaecol, Lahore 54000, Pakistan Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England论文数: 引用数: h-index:机构:Craig, Jamie论文数: 0 引用数: 0 h-index: 0机构: Flinders Med Ctr, Dept Ophthalmol, Bedford Pk, SA 5042, Australia Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandMackey, David A.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Lions Eye Inst, Perth, WA 6009, Australia Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandKalaydjieva, Luba论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Med Res Ctr, Perth, WA 6009, Australia Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandRiazuddin, Sheikh论文数: 0 引用数: 0 h-index: 0机构: Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore 53700, Pakistan Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandInglehearn, Chris F.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England
- [27] Thrombospondin Mutations and Patients With Primary Congenital Glaucoma in a United States PopulationJOURNAL OF GLAUCOMA, 2023, 32 (11) : E156 - E160Boese, Erin A.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Inst Vis Res, Iowa City, IA 52245 USA Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Iowa City, IA 52245 USA Univ Iowa, Carver Coll Med, Inst Vis Res, Iowa City, IA 52245 USAAlward, Wallace L. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Inst Vis Res, Iowa City, IA 52245 USA Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Iowa City, IA 52245 USA Univ Iowa, Carver Coll Med, Inst Vis Res, Iowa City, IA 52245 USAKwon, Young H.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Inst Vis Res, Iowa City, IA 52245 USA Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Iowa City, IA 52245 USA Univ Iowa, Carver Coll Med, Inst Vis Res, Iowa City, IA 52245 USARoos, Ben R.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Inst Vis Res, Iowa City, IA 52245 USA Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Iowa City, IA 52245 USA Univ Iowa, Carver Coll Med, Inst Vis Res, Iowa City, IA 52245 USAStone, Edwin M.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Inst Vis Res, Iowa City, IA 52245 USA Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Iowa City, IA 52245 USA Univ Iowa, Carver Coll Med, Inst Vis Res, Iowa City, IA 52245 USAScheetz, Todd. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Inst Vis Res, Iowa City, IA 52245 USA Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Iowa City, IA 52245 USA Univ Iowa, Carver Coll Med, Inst Vis Res, Iowa City, IA 52245 USAFingert, John H.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Inst Vis Res, Iowa City, IA 52245 USA Univ Iowa, Carver Coll Med, Dept Ophthalmol & Visual Sci, Iowa City, IA 52245 USA Univ Iowa, Carver Coll Med, 3111B Med Educ Res Bldg,375 Newton Rd, Iowa City, IA 52245 USA Univ Iowa, Carver Coll Med, Inst Vis Res, Iowa City, IA 52245 USA
- [28] The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56Scientific Reports, 10Basamat Almoallem论文数: 0 引用数: 0 h-index: 0机构: Ghent University and Ghent University Hospital,Center for Medical GeneticsGavin Arno论文数: 0 引用数: 0 h-index: 0机构: Ghent University and Ghent University Hospital,Center for Medical GeneticsJulie De Zaeytijd论文数: 0 引用数: 0 h-index: 0机构: Ghent University and Ghent University Hospital,Center for Medical GeneticsHannah Verdin论文数: 0 引用数: 0 h-index: 0机构: Ghent University and Ghent University Hospital,Center for Medical GeneticsIrina Balikova论文数: 0 引用数: 0 h-index: 0机构: Ghent University and Ghent University Hospital,Center for Medical GeneticsIngele Casteels论文数: 0 引用数: 0 h-index: 0机构: Ghent University and Ghent University Hospital,Center for Medical GeneticsThomy de Ravel论文数: 0 引用数: 0 h-index: 0机构: Ghent University and Ghent University Hospital,Center for Medical GeneticsSarah Hull论文数: 0 引用数: 0 h-index: 0机构: Ghent University and Ghent University Hospital,Center for Medical GeneticsMartina Suzani论文数: 0 引用数: 0 h-index: 0机构: Ghent University and Ghent University Hospital,Center for Medical GeneticsAnne Destrée论文数: 0 引用数: 0 h-index: 0机构: Ghent University and Ghent University Hospital,Center for Medical GeneticsMichelle Peng论文数: 0 引用数: 0 h-index: 0机构: Ghent University and Ghent University Hospital,Center for Medical GeneticsDenise Williams论文数: 0 引用数: 0 h-index: 0机构: Ghent University and Ghent University Hospital,Center for Medical GeneticsJohn R. Ainsworth论文数: 0 引用数: 0 h-index: 0机构: Ghent University and Ghent University Hospital,Center for Medical GeneticsAndrew R. Webster论文数: 0 引用数: 0 h-index: 0机构: Ghent University and Ghent University Hospital,Center for Medical GeneticsBart P. Leroy论文数: 0 引用数: 0 h-index: 0机构: Ghent University and Ghent University Hospital,Center for Medical GeneticsAnthony T. Moore论文数: 0 引用数: 0 h-index: 0机构: Ghent University and Ghent University Hospital,Center for Medical GeneticsElfride De Baere论文数: 0 引用数: 0 h-index: 0机构: Ghent University and Ghent University Hospital,Center for Medical Genetics
- [29] Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 geneGENE, 2013, 528 (02) : 288 - 294Said, Mariem Ben论文数: 0 引用数: 0 h-index: 0机构: Ctr Biotechnol Sfax, Lab Microorganismes & Biomol, Sfax 3018, Tunisia Ctr Biotechnol Sfax, Lab Microorganismes & Biomol, Sfax 3018, TunisiaChouchene, Ebtissem论文数: 0 引用数: 0 h-index: 0机构: Inst Hedi Raies Ophtalmol Tunis, Tunis, Tunisia Ctr Biotechnol Sfax, Lab Microorganismes & Biomol, Sfax 3018, TunisiaBen Salem, Salma论文数: 0 引用数: 0 h-index: 0机构: Ctr Biotechnol Sfax, Lab Microorganismes & Biomol, Sfax 3018, Tunisia Ctr Biotechnol Sfax, Lab Microorganismes & Biomol, Sfax 3018, TunisiaDaoud, Kods论文数: 0 引用数: 0 h-index: 0机构: Ctr Biotechnol Sfax, Lab Microorganismes & Biomol, Sfax 3018, Tunisia Ctr Biotechnol Sfax, Lab Microorganismes & Biomol, Sfax 3018, TunisiaLargueche, Leila论文数: 0 引用数: 0 h-index: 0机构: Inst Hedi Raies Ophtalmol Tunis, Tunis, Tunisia Ctr Biotechnol Sfax, Lab Microorganismes & Biomol, Sfax 3018, TunisiaBouassida, Walid论文数: 0 引用数: 0 h-index: 0机构: CHUH Bourguiba Sfax, Serv Ophtalmol, Sfax, Tunisia Ctr Biotechnol Sfax, Lab Microorganismes & Biomol, Sfax 3018, TunisiaBenzina, Zeineb论文数: 0 引用数: 0 h-index: 0机构: CHUH Bourguiba Sfax, Serv Ophtalmol, Sfax, Tunisia Ctr Biotechnol Sfax, Lab Microorganismes & Biomol, Sfax 3018, TunisiaAyadi, Hammadi论文数: 0 引用数: 0 h-index: 0机构: Ctr Biotechnol Sfax, Lab Microorganismes & Biomol, Sfax 3018, Tunisia Ctr Biotechnol Sfax, Lab Microorganismes & Biomol, Sfax 3018, TunisiaSoederkvist, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Linkoping, Fac Hlth Sci, Dept Clin & Expt Med, Div Cell Biol, Linkoping, Sweden Ctr Biotechnol Sfax, Lab Microorganismes & Biomol, Sfax 3018, TunisiaMatri, Leila论文数: 0 引用数: 0 h-index: 0机构: Inst Hedi Raies Ophtalmol Tunis, Tunis, Tunisia Ctr Biotechnol Sfax, Lab Microorganismes & Biomol, Sfax 3018, TunisiaHmani-Aifa, Mounira论文数: 0 引用数: 0 h-index: 0机构: Ctr Biotechnol Sfax, Lab Microorganismes & Biomol, Sfax 3018, Tunisia Ctr Biotechnol Sfax, Lab Microorganismes & Biomol, Sfax 3018, Tunisia
- [30] Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohortSCIENTIFIC REPORTS, 2020, 10 (01)Prasov, Lev论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USAGuan, Bin论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USAUllah, Ehsan论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USAArcher, Steven M.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USAAyres, Bernadete M.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USABesirli, Cagri G.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USAWiinikka-Buesser, Laurel论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USAComer, Grant M.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USADel Monte, Monte A.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USAElner, Susan G.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USAGarnai, Sarah J.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USAHuryn, Laryssa A.论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USAJohnson, Kayla论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USAKamat, Shivani S.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USALieu, Philip论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USAMian, Shahzad, I论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USARygiel, Christine A.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USASerpen, Jasmine Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA Case Western Reserve Univ, Sch Med, Cleveland, OH 44106 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USAPawar, Hemant S.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USABrooks, Brian P.论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USAMoroi, Sayoko E.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Ohio State Univ, Dept Ophthalmol & Visual Sci, Columbus, OH 43212 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USARichards, Julia E.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USAHufnagel, Robert B.论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA