These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

191 related items for PubMed ID: 28763161

  • 1. 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; 173(10):2747-2752. PubMed ID: 28763161
    [Abstract] [Full Text] [Related]

  • 2. 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; 50(4):427-30. PubMed ID: 24630288
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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]

  • 5. 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]

  • 6. Familial acanthosis nigricans with the FGFR3 mutation: Differences of pigmentation between male and female patients.
    Yasuda M, Morimoto N, Shimizu A, Toyoshima T, Yokoyama Y, Ishikawa O.
    J Dermatol; 2018 Nov 30; 45(11):1357-1361. PubMed ID: 30168875
    [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 30; 98(4):e14157. PubMed ID: 30681580
    [Abstract] [Full Text] [Related]

  • 8. 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 30; 4(4):220-2. PubMed ID: 23149434
    [Abstract] [Full Text] [Related]

  • 9. Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature.
    Muguet Guenot L, Aubert H, Isidor B, Toutain A, Mazereeuw-Hautier J, Collet C, Bourrat E, Denis Musquer M, Barbarot S, Groupe de Recherche de la Société Française de Dermatologie Pédiatrique.
    Pediatr Dermatol; 2019 Mar 30; 36(2):242-246. PubMed ID: 30762251
    [Abstract] [Full Text] [Related]

  • 10. 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 30; 158A(10):2456-62. PubMed ID: 22903874
    [Abstract] [Full Text] [Related]

  • 11. 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 30; 30(5):897-8. PubMed ID: 25809207
    [No Abstract] [Full Text] [Related]

  • 12. 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 30; 52(4):580-5. PubMed ID: 24411048
    [Abstract] [Full Text] [Related]

  • 13. 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 30; 158A(12):3119-25. PubMed ID: 23165795
    [Abstract] [Full Text] [Related]

  • 14. 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 30; 185(1):73-82. PubMed ID: 33051983
    [Abstract] [Full Text] [Related]

  • 15. 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 30; 164A(7):1784-8. PubMed ID: 24715719
    [Abstract] [Full Text] [Related]

  • 16. 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 30; (210):77-82. PubMed ID: 23045425
    [Abstract] [Full Text] [Related]

  • 17. 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 30; 43(9):1190-5. PubMed ID: 23649205
    [Abstract] [Full Text] [Related]

  • 18. 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 30; 39(1):67-71. PubMed ID: 27485793
    [Abstract] [Full Text] [Related]

  • 19. [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 30; 15(11):932-6. PubMed ID: 24229583
    [Abstract] [Full Text] [Related]

  • 20. 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 30; 25(10):674-682. PubMed ID: 34672771
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 10.