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Journal Abstract Search

438 related items for PubMed ID: 37749571

  • 1. Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.
    Zi F, Li Z, Cheng W, Huang X, Sheng X, Rong W.
    BMC Med Genomics; 2023 Sep 25; 16(1):223. PubMed ID: 37749571
    [Abstract] [Full Text] [Related]

  • 2. De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.
    Huang X, Li H, Yang S, Ma M, Lian Y, Wu X, Qi X, Wang X, Rong W, Sheng X.
    BMC Med Genomics; 2024 May 24; 17(1):142. PubMed ID: 38790056
    [Abstract] [Full Text] [Related]

  • 3. De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia.
    Huang X, Rui X, Zhang S, Qi X, Rong W, Sheng X.
    BMC Med Genomics; 2023 Apr 21; 16(1):84. PubMed ID: 37085840
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  • 4. Four different gene-related cone-rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance.
    Li Z, Cheng W, Zi F, Wang J, Huang X, Sheng X, Rong W.
    Front Genet; 2023 Apr 21; 14():1157156. PubMed ID: 38028590
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  • 5. Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.
    Yang E, Yu J, Liu X, Chu H, Li L.
    Invest Ophthalmol Vis Sci; 2023 May 01; 64(5):10. PubMed ID: 37191617
    [Abstract] [Full Text] [Related]

  • 6. X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia.
    Xiao X, Li S, Jia X, Guo X, Zhang Q.
    Mol Vis; 2016 May 01; 22():1257-1266. PubMed ID: 27829781
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  • 11. Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.
    Wang Y, Xiao X, Li X, Yi Z, Jiang Y, Zhang F, Zhou L, Li S, Jia X, Sun W, Wang P, Zhang Q.
    Br J Ophthalmol; 2023 Oct 01; 107(10):1545-1553. PubMed ID: 36180177
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  • 12. Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing.
    Zhou L, Xiao X, Li S, Jia X, Zhang Q.
    Exp Eye Res; 2018 Jun 01; 171():76-91. PubMed ID: 29453956
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  • 13. MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity.
    Li Z, Ma R, Ma M, Xiao X, Qi X, Ma H, Sheng X, Rong W.
    Front Genet; 2024 Jun 01; 15():1407361. PubMed ID: 39076172
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  • 16. BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.
    Yang S, Li Z, Cheng W, Ma M, Qi R, Rui X, Ren Y, Sheng X, Rong W.
    Mol Genet Genomic Med; 2023 Jan 01; 11(1):e2095. PubMed ID: 36378562
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  • 17. Single-Exome sequencing identified a novel RP2 mutation in a child with X-linked retinitis pigmentosa.
    Lim H, Park YM, Lee JK, Taek Lim H.
    Can J Ophthalmol; 2016 Oct 01; 51(5):326-330. PubMed ID: 27769321
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  • 18. Trio-based whole-exome sequencing reveals mutations in early-onset high myopia.
    Ye L, Guo YM, Cai YX, Wei J, Huang J, Bi J, Chen D, Li FF, Huang XF.
    BMJ Open Ophthalmol; 2024 May 24; 9(1):. PubMed ID: 38789272
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  • 19. Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?
    Zhou L, Xiao X, Li S, Jia X, Wang P, Sun W, Zhang F, Li J, Li T, Zhang Q.
    Mol Vis; 2018 May 24; 24():560-573. PubMed ID: 30181686
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  • 20. Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
    Jiang Y, Xiao X, Sun W, Wang Y, Li S, Jia X, Wang P, Hejtmancik JF, Zhang Q.
    J Transl Med; 2024 Jan 19; 22(1):75. PubMed ID: 38243264
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