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Journal Abstract Search

240 related items for PubMed ID: 29170271

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  • 2. Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia.
    Pugash D, Lehman AM, Langlois S.
    Ultrasound Obstet Gynecol; 2014 Sep; 44(3):365-8. PubMed ID: 24616001
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  • 3. 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. 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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  • 8. FGFR3 mutations and medial temporal lobe dysgenesis.
    Kannu P, Aftimos S.
    J Child Neurol; 2007 Feb; 22(2):211-3. PubMed ID: 17621485
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  • 9. 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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  • 10. Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.
    Chang IJ, Sun A, Bouchard ML, Kamps SE, Hale S, Done S, Goldberg MJ, Glass IA.
    Am J Med Genet A; 2018 Jul 01; 176(7):1675-1679. PubMed ID: 30160829
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  • 11. Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.
    Camera G, Baldi M, Strisciuglio G, Concolino D, Mastroiacovo P, Baffico M.
    Am J Med Genet; 2001 Dec 15; 104(4):277-81. PubMed ID: 11754059
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  • 12. Macrocerebellum in Achondroplasia: A Further CNS Manifestation of FGFR3 Mutations?
    Pascoe HM, Yang JY, Chen J, Fink AM, Kumbla S.
    AJNR Am J Neuroradiol; 2020 Feb 15; 41(2):338-342. PubMed ID: 31857328
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  • 14. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level.
    Cohen MM.
    Int J Oral Maxillofac Surg; 1998 Dec 15; 27(6):451-5. PubMed ID: 9869286
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  • 17. 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 15; 42(5):2063-2067. PubMed ID: 33389251
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  • 19. Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap.
    Barton C, Sweeney E, Roberts D, McPartland J.
    Clin Dysmorphol; 2010 Jul 15; 19(3):146-149. PubMed ID: 20357663
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