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Journal Abstract Search

164 related items for PubMed ID: 33051983

  • 1. 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; 185(1):73-82. PubMed ID: 33051983
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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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  • 8. Homozygous N540K hypochondroplasia--first report: radiological and clinical features.
    De Rosa ML, Fano V, Araoz HV, Chertkoff L, Obregon MG.
    Am J Med Genet A; 2014 Jul; 164A(7):1784-8. PubMed ID: 24715719
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  • 9. 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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  • 11. 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 26; 176(5):1225-1231. PubMed ID: 29681095
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  • 14. 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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  • 16. Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.
    Linnankivi T, Mäkitie O, Valanne L, Toiviainen-Salo S.
    Am J Med Genet A; 2012 Dec 23; 158A(12):3119-25. PubMed ID: 23165795
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  • 18. Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome?
    Romeo A, Lodi M, Viri M, Parente E, Baldi M, Righini A, Milani D.
    Pediatr Neurol; 2014 Apr 23; 50(4):427-30. PubMed ID: 24630288
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  • 19. 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 23; 98(4):e14157. PubMed ID: 30681580
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  • 20. Children with short-limbed short stature in pediatric endocrinological services in Japan.
    Hasegawa K, Tanaka H.
    Pediatr Int; 2014 Dec 23; 56(6):809-812. PubMed ID: 25244068
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