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174 related items for PubMed ID: 27485793

  • 1. Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis.
    Okazaki T, Saito Y, Ueda R, Awashima T, Nishimura Y, Yuasa I, Shinohara Y, Adachi K, Sasaki M, Nanba E, Maegaki Y.
    Brain Dev; 2017 Jan; 39(1):67-71. PubMed ID: 27485793
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  • 4. 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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  • 5. 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; 158A(12):3119-25. PubMed ID: 23165795
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  • 6. Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation.
    Philpott CM, Widjaja E, Raybaud C, Branson HM, Kannu P, Blaser S.
    Pediatr Radiol; 2013 Sep; 43(9):1190-5. PubMed ID: 23649205
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  • 7. [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; 15(11):932-6. PubMed ID: 24229583
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  • 8. Hypochondroplasia and temporal lobe epilepsy - A series of 4 cases.
    Ahmadi M, Herting A, Mueffelmann B, Woermann FG, Abou Jamra R, Bien CG, Polster T, Brandt C.
    Epilepsy Behav; 2022 Jan; 126():108479. PubMed ID: 34922328
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  • 9. Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.
    Korkmaz HA, Hazan F, Dizdarer C, Tükün A.
    J Clin Res Pediatr Endocrinol; 2012 Dec; 4(4):220-2. PubMed ID: 23149434
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  • 10. ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy.
    De Sanctis V, Baldi M, Marsciani A, Ravaioli E, Timoncini G, Reggiani L, Sensi A, Zucchini A.
    Georgian Med News; 2012 Sep; (210):77-82. PubMed ID: 23045425
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  • 11. 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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  • 12. 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 23; 185(1):73-82. PubMed ID: 33051983
    [Abstract] [Full Text] [Related]

  • 13. New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.
    Song SH, Balce GC, Agashe MV, Lee H, Hong SJ, Park YE, Kim SG, Song HR.
    Am J Med Genet A; 2012 Oct 23; 158A(10):2456-62. PubMed ID: 22903874
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  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. 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 26; 98(4):e14157. PubMed ID: 30681580
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  • 16. 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 26; 164A(7):1784-8. PubMed ID: 24715719
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  • 17. FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation.
    Arenas MA, Del Pino M, Fano V.
    J Pediatr Endocrinol Metab; 2018 Nov 27; 31(11):1279-1284. PubMed ID: 30335613
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  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia.
    Grosso S, Farnetani MA, Berardi R, Bartalini G, Carpentieri M, Galluzzi P, Mostardini R, Morgese G, Balestri P.
    Am J Med Genet A; 2003 Jul 01; 120A(1):88-91. PubMed ID: 12794698
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 173(4):1097-1101. PubMed ID: 28181399
    [Abstract] [Full Text] [Related]

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