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Journal Abstract Search

133 related items for PubMed ID: 36859260

  • 1. Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report.
    Xie H, Chen Y, Xiong F, Li J, Yang F.
    BMC Pediatr; 2023 Mar 02; 23(1):100. PubMed ID: 36859260
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  • 2. Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.
    Chen CP, Su YN, Lin TH, Chang TY, Su JW, Wang W.
    Taiwan J Obstet Gynecol; 2013 Dec 02; 52(4):580-5. PubMed ID: 24411048
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  • 4. Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare FGFR3 variant.
    Ekinci S, Ülger Y, Acar MO, Ceran A, Aycan Z, Fitoz ÖS, Ilgın Ruhi H.
    J Pediatr Endocrinol Metab; 2022 Aug 26; 35(8):1097-1101. PubMed ID: 35438268
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  • 7. Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.
    Sabir AH, Sheikh J, Singh A, Morley E, Cocca A, Cheung MS, Irving M.
    Am J Med Genet A; 2021 Jan 26; 185(1):73-82. PubMed ID: 33051983
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  • 8. Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.
    Chitayat D, Fernandez B, Gardner A, Moore L, Glance P, Dunn M, Chun K, Sgro M, Ray P, Allingham-Hawkins D.
    Am J Med Genet; 1999 Jun 11; 84(5):401-5. PubMed ID: 10360393
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  • 9. p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype.
    Bengur FB, Ekmekci CG, Karaarslan E, Gunoz H, Alanay Y.
    Eur J Med Genet; 2020 Feb 11; 63(2):103659. PubMed ID: 31048079
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  • 10. Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: A case report and brief literature review.
    Yao G, Wang G, Wang D, Su G.
    Medicine (Baltimore); 2019 Jan 11; 98(4):e14157. PubMed ID: 30681580
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  • 12. Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia.
    Zhao R, Ruan Y, Wang X.
    Int J Clin Exp Med; 2015 Jan 11; 8(10):19241-9. PubMed ID: 26770560
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  • 15. Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia.
    Chen J, Yang J, Zhao S, Ying H, Li G, Xu C.
    Gene; 2018 Jan 30; 641():355-360. PubMed ID: 29080836
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