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Journal Abstract Search

169 related items for PubMed ID: 19789973

  • 1. Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene.
    Trujillo-Tiebas MJ, Fenollar-Cortés M, Lorda-Sánchez I, Díaz-Recasens J, Carrillo Redondo A, Ramos-Corrales C, Ayuso C.
    J Assist Reprod Genet; 2009 Aug; 26(8):455-60. PubMed ID: 19789973
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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; 52(4):580-5. PubMed ID: 24411048
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  • 4. FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases.
    Hatzaki A, Sifakis S, Apostolopoulou D, Bouzarelou D, Konstantinidou A, Kappou D, Sideris A, Tzortzis E, Athanassiadis A, Florentin L, Theodoropoulos P, Makatsoris C, Karadimas C, Velissariou V.
    Am J Med Genet A; 2011 Oct; 155A(10):2426-35. PubMed ID: 21910223
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  • 9. Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family.
    Ajmal M, Mir A, Shoaib M, Malik SA, Nasir M.
    Diagn Pathol; 2017 Jul 05; 12(1):47. PubMed ID: 28679403
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  • 10. [Clinical analysis and genetic diagnosis of short-limb inherited short stature diseases in children].
    Li F, Ma HW, Song Y, Hu M, Ren S, Yu YF, Zhao GJ.
    Zhongguo Dang Dai Er Ke Za Zhi; 2013 Nov 05; 15(11):932-6. PubMed ID: 24229583
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  • 11. 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 05; 185(1):73-82. PubMed ID: 33051983
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  • 13. Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
    Heuertz S, Le Merrer M, Zabel B, Wright M, Legeai-Mallet L, Cormier-Daire V, Gibbs L, Bonaventure J.
    Eur J Hum Genet; 2006 Dec 05; 14(12):1240-7. PubMed ID: 16912704
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  • 14. 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 05; 58(8):705-8. PubMed ID: 26716907
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  • 16. The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3-related skeletal dysplasias.
    Mellis R, Chandler N, Jenkins L, Chitty LS.
    Prenat Diagn; 2020 Jun 05; 40(7):785-791. PubMed ID: 32227640
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