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Journal Abstract Search

116 related items for PubMed ID: 39198999

  • 1. Lethal Skeletal Dysplasia in Fetus With Novel COL1A1 Variant.
    Wang MJ, Schioppo D, Donovan BM, Febres-Cordero DA, Connolly S, Robinson J, Duffy CR.
    Prenat Diagn; 2024 Oct; 44(11):1412-1415. PubMed ID: 39198999
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  • 4. Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature.
    Gug C, Caba L, Mozos I, Stoian D, Atasie D, Gug M, Gorduza EV.
    Gene; 2020 May 30; 741():144565. PubMed ID: 32165296
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  • 5. Case Report: A novel de novo variant of COL1A1 in fetal genetic osteogenesis imperfecta.
    Mai Q, Han R, Chen Y, Shen K, Wang S, Zheng Q.
    Front Endocrinol (Lausanne); 2023 May 30; 14():1267252. PubMed ID: 38027129
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  • 6. Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese.
    Li R, Wang J, Wang L, Lu Y, Wang C.
    Mol Genet Genomic Med; 2020 Mar 30; 8(3):e1105. PubMed ID: 31898422
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  • 8. [Analysis of COL1A1 gene variants in five Chinese pedigrees affected with osteogenesis imperfecta].
    Jiao Z, Zheng L, Kong X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Feb 10; 37(2):123-126. PubMed ID: 32034735
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  • 11. Skeletal dysplasia in perinatal lethal osteogenesis imperfecta. A complex disorder of endochondral and intramembranous ossification.
    Marion MJ, Gannon FH, Fallon MD, Mennuti MT, Lodato RF, Kaplan FS.
    Clin Orthop Relat Res; 1993 Aug 10; (293):327-37. PubMed ID: 8339500
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  • 13. Novel COL1A1 Mutation c.3290G>T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus.
    Tanner L, Vainio P, Sandell M, Laine J.
    Pediatr Dev Pathol; 2017 Aug 10; 20(5):455-459. PubMed ID: 28812463
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  • 17. Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta.
    Evin F, Atik T, Onay H, Goksen D, Darcan S, Cogulu O, Ozen S.
    J Pediatr Endocrinol Metab; 2024 Aug 27; 37(8):693-700. PubMed ID: 38953412
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