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Journal Abstract Search

234 related items for PubMed ID: 24630288

  • 1. 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]

  • 2. 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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  • 7. 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; 173(4):1097-1101. PubMed ID: 28181399
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  • 8. 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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  • 9. FGFR3 mutations and medial temporal lobe dysgenesis.
    Kannu P, Aftimos S.
    J Child Neurol; 2007 Feb 23; 22(2):211-3. PubMed ID: 17621485
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  • 10. Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association?
    Bernardo P, Budetta M, Aliberti F, Carpentieri ML, De Brasi D, Sorrentino L, Russo C, D'amico A, Cinalli G, Santoro C, Coppola A.
    Neurol Sci; 2021 May 23; 42(5):2063-2067. PubMed ID: 33389251
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  • 11. 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 23; 4(4):220-2. PubMed ID: 23149434
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  • 12. 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 23; 45(11):1357-1361. PubMed ID: 30168875
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  • 13. 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
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  • 14. 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
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  • 15. 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 01; 30(5):897-8. PubMed ID: 25809207
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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 01; 164A(7):1784-8. PubMed ID: 24715719
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  • 17. 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 01; 185(1):73-82. PubMed ID: 33051983
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  • 18. 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 01; 158A(10):2456-62. PubMed ID: 22903874
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  • 19. Medial temporal lobe dysgenesis in hypochondroplasia.
    Kannu P, Hayes IM, Mandelstam S, Donnan L, Savarirayan R.
    Am J Med Genet A; 2005 Nov 01; 138(4):389-91. PubMed ID: 16222682
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  • 20. 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 01; 98(4):e14157. PubMed ID: 30681580
    [Abstract] [Full Text] [Related]

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