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Journal Abstract Search

186 related items for PubMed ID: 23149434

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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 23; 39(1):67-71. PubMed ID: 27485793
    [Abstract] [Full Text] [Related]

  • 9. 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 23; 58(8):705-8. PubMed ID: 26716907
    [Abstract] [Full Text] [Related]

  • 10. 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 23; 173(4):1097-1101. PubMed ID: 28181399
    [Abstract] [Full Text] [Related]

  • 11. 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 23; 25(10):674-682. PubMed ID: 34672771
    [Abstract] [Full Text] [Related]

  • 12. Improvement of molecular-genetic diagnostics of the most common skeletal dysplasias.
    Kotysova L, Mattosova S, Chandoga J.
    Bratisl Lek Listy; 2015 Oct 23; 116(8):465-8. PubMed ID: 26350084
    [Abstract] [Full Text] [Related]

  • 13. 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 23; 164A(7):1784-8. PubMed ID: 24715719
    [Abstract] [Full Text] [Related]

  • 14. Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.
    Cossiez Cacard MA, Coulombe J, Bernard P, Kaci N, Bressieux JM, Souchon PF, Motte J, Legeai-Mallet L, Hadj-Rabia S, Eschard C.
    J Eur Acad Dermatol Venereol; 2016 May 23; 30(5):897-8. PubMed ID: 25809207
    [No Abstract] [Full Text] [Related]

  • 15. 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 23; (210):77-82. PubMed ID: 23045425
    [Abstract] [Full Text] [Related]

  • 16. Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.
    Porntaveetus T, Srichomthong C, Suphapeetiporn K, Shotelersuk V.
    Am J Med Genet A; 2017 Oct 23; 173(10):2747-2752. PubMed ID: 28763161
    [Abstract] [Full Text] [Related]

  • 17. [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 23; 15(11):932-6. PubMed ID: 24229583
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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 26; 52(4):580-5. PubMed ID: 24411048
    [Abstract] [Full Text] [Related]

  • 20. 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 26; 43(9):1190-5. PubMed ID: 23649205
    [Abstract] [Full Text] [Related]

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