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Journal Abstract Search

204 related items for PubMed ID: 26392740

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  • 3. A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity.
    Koenighofer M, Parzefall T, Frohne A, Frei E, Waldstein SM, Mitulovic G, Schoefer C, Frei K, Lucas T.
    Exp Eye Res; 2021 Apr; 205():108497. PubMed ID: 33596443
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  • 7. Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
    Prasov L, Guan B, Ullah E, Archer SM, Ayres BM, Besirli CG, Wiinikka-Buesser L, Comer GM, Del Monte MA, Elner SG, Garnai SJ, Huryn LA, Johnson K, Kamat SS, Lieu P, Mian SI, Rygiel CA, Serpen JY, Pawar HS, Brooks BP, Moroi SE, Richards JE, Hufnagel RB.
    Sci Rep; 2020 Nov 17; 10(1):19986. PubMed ID: 33203948
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  • 8. Mutations in a novel serine protease PRSS56 in families with nanophthalmos.
    Orr A, Dubé MP, Zenteno JC, Jiang H, Asselin G, Evans SC, Caqueret A, Lakosha H, Letourneau L, Marcadier J, Matsuoka M, Macgillivray C, Nightingale M, Papillon-Cavanagh S, Perry S, Provost S, Ludman M, Guernsey DL, Samuels ME.
    Mol Vis; 2011 Nov 17; 17():1850-61. PubMed ID: 21850159
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  • 9. Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse.
    Hassall MM, Javadiyan S, Klebe S, Awadalla MS, Sharma S, Qassim A, White M, Thomas PQ, Craig JE, Siggs OM.
    Sci Rep; 2023 Jul 07; 13(1):11017. PubMed ID: 37419942
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  • 11. Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11.
    Othman MI, Sullivan SA, Skuta GL, Cockrell DA, Stringham HM, Downs CA, Fornés A, Mick A, Boehnke M, Vollrath D, Richards JE.
    Am J Hum Genet; 1998 Nov 07; 63(5):1411-8. PubMed ID: 9792868
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  • 13. Does the association between TMEM98 and nanophthalmos require further confirmation?-Reply.
    Awadalla MS, Burdon KP, Craig JE.
    JAMA Ophthalmol; 2015 Mar 07; 133(3):359-60. PubMed ID: 25429596
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  • 14. [A family with nanophthalmos caused by a TMEM98 gene variant].
    Yu XW, Shi Y, Gao Y, Fan ZG.
    Zhonghua Yan Ke Za Zhi; 2022 Nov 11; 58(11):932-935. PubMed ID: 36348534
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  • 16. Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.
    Xiao X, Sun W, Ouyang J, Li S, Jia X, Tan Z, Hejtmancik JF, Zhang Q.
    Hum Genet; 2019 Oct 11; 138(10):1077-1090. PubMed ID: 31172260
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  • 17. Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
    Lang E, Koller S, Atac D, Pfäffli OA, Hanson JVM, Feil S, Bähr L, Bahr A, Kottke R, Joset P, Fasler K, Barthelmes D, Steindl K, Konrad D, Wille DA, Berger W, Gerth-Kahlert C.
    Acta Ophthalmol; 2021 Jun 11; 99(4):e594-e607. PubMed ID: 32996714
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