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Journal Abstract Search

116 related items for PubMed ID: 39198999

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  • 25. [Clinical study and prenatal diagnosis of fetus with shortened long bones].
    Huang LH, Fang Q, Xie HN, Yang ZY, Yang YZ, Shi HJ, Huang X.
    Zhonghua Yi Xue Za Zhi; 2007 Dec 04; 87(45):3178-82. PubMed ID: 18399109
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  • 26. A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta.
    Fan N, Jonas JB, He F, Yan NH, Wang Y, Liu L, Liu DL, Zhao L, Pang IH, Liu XY.
    Genet Mol Res; 2015 Nov 30; 14(4):15295-300. PubMed ID: 26634493
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  • 27. Hybrid minigene splicing assay verifies the pathogenicity of a novel splice site variant in the COL1A1 gene of a chinese patient with osteogenesis imperfecta type I.
    Lin Y, Li X, Huang X, Zheng D, Liu Y, Lan F, Wang Z.
    Injury; 2019 Dec 30; 50(12):2215-2219. PubMed ID: 31653500
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  • 28. Molecular testing strategies in the evaluation of fetal skeletal dysplasia.
    Jelin AC, Blakemore K, Trebes S, Sagaser K, Forster KR, Russo M, Hoover-Fong J.
    J Matern Fetal Neonatal Med; 2022 Jul 30; 35(14):2788-2794. PubMed ID: 32752906
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  • 34. The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.
    Zhang ZL, Zhang H, Ke YH, Yue H, Xiao WJ, Yu JB, Gu JM, Hu WW, Wang C, He JW, Fu WZ.
    J Bone Miner Metab; 2012 Jan 30; 30(1):69-77. PubMed ID: 21667357
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  • 35. A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign.
    Baynam G, Kiraly-Borri C, Goldblatt J, Dickinson JE, Jevon GP, Overkov A.
    Am J Med Genet A; 2010 Apr 30; 152A(4):966-9. PubMed ID: 20358610
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  • 36. Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.
    Marshall CJ, Arundel P, Mushtaq T, Offiah AC, Pollitt RC, Bishop NJ, Balasubramanian M.
    Am J Med Genet A; 2016 Dec 30; 170(12):3303-3307. PubMed ID: 27549894
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  • 37. Prenatal diagnosis of the skeletal dysplasias.
    Sharony R, Browne C, Lachman RS, Rimoin DL.
    Am J Obstet Gynecol; 1993 Sep 30; 169(3):668-75. PubMed ID: 8372878
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  • 38. A recurrent de novo missense mutation in COL1A1 causes osteogenesis imperfecta type II and preterm delivery in Normande cattle.
    Corbeau J, Grohs C, Jourdain J, Boussaha M, Besnard F, Barbat A, Plassard V, Rivière J, Hamelin C, Mortier J, Boichard D, Guatteo R, Capitan A.
    Genet Sel Evol; 2024 May 21; 56(1):39. PubMed ID: 38773368
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  • 39. Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2.
    Peláez Chomba MS, Vásquez Gómez GR, Sullcahuaman Allende YC, Mendoza Fernández JC, Purizaca Rosillo ND, Zevallos A, Cruzate Cabrejos VL.
    F1000Res; 2023 May 21; 12():603. PubMed ID: 37829592
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