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178 related items for PubMed ID: 34672771

  • 1. High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with FGFR3-Related Skeletal Dysplasias.
    Riba FRG, Gomes MES, Rabelo NC, Zuma MCC, Llerena JC, Mencalha AL, Gonzalez S.
    Genet Test Mol Biomarkers; 2021 Oct; 25(10):674-682. PubMed ID: 34672771
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  • 2. 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; 63(2):103659. PubMed ID: 31048079
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  • 3. Low bone mineral density in achondroplasia and hypochondroplasia.
    Matsushita M, Kitoh H, Mishima K, Kadono I, Sugiura H, Hasegawa S, Nishida Y, Ishiguro N.
    Pediatr Int; 2016 Aug; 58(8):705-8. PubMed ID: 26716907
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  • 4. Improvement of molecular-genetic diagnostics of the most common skeletal dysplasias.
    Kotysova L, Mattosova S, Chandoga J.
    Bratisl Lek Listy; 2015 Aug; 116(8):465-8. PubMed ID: 26350084
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  • 5. Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
    Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM.
    Am J Med Genet A; 2017 Apr; 173(4):1097-1101. PubMed ID: 28181399
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  • 6. 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; 52(4):580-5. PubMed ID: 24411048
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  • 7. A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing.
    Wang H, Sun Y, Wu W, Wei X, Lan Z, Xie J.
    Clin Chim Acta; 2013 Aug 23; 423():62-5. PubMed ID: 23726269
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  • 14. Further delineation of achondroplasia-hypochondroplasia complex with long-term survival.
    González-Del Angel A, Rius R, Alcántara-Ortigoza MA, Spector E, Del Castillo V, Mata-García LE.
    Am J Med Genet A; 2018 May 23; 176(5):1225-1231. PubMed ID: 29681095
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  • 20. Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia.
    Gomes MES, Kanazawa TY, Riba FR, Pereira NG, Zuma MCC, Rabelo NC, Sanseverino MT, Horovitz DDG, Llerena JC, Cavalcanti DP, Gonzalez S.
    Mol Syndromol; 2018 Feb 23; 9(2):92-99. PubMed ID: 29593476
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