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Journal Abstract Search

171 related items for PubMed ID: 23649205

  • 1. 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
    [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. 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
    [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; 173(4):1097-1101. PubMed ID: 28181399
    [Abstract] [Full Text] [Related]

  • 5. 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; 164A(7):1784-8. PubMed ID: 24715719
    [Abstract] [Full Text] [Related]

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

  • 7. 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; 25(10):674-682. PubMed ID: 34672771
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. 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 23; 52(4):580-5. PubMed ID: 24411048
    [Abstract] [Full Text] [Related]

  • 12. Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias.
    Manikkam SA, Chetcuti K, Howell KB, Savarirayan R, Fink AM, Mandelstam SA.
    AJNR Am J Neuroradiol; 2018 Feb 23; 39(2):380-384. PubMed ID: 29170271
    [Abstract] [Full Text] [Related]

  • 13. 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 23; 63(2):103659. PubMed ID: 31048079
    [Abstract] [Full Text] [Related]

  • 14. Criteria for radiologic diagnosis of hypochondroplasia in neonates.
    Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A.
    Pediatr Radiol; 2016 Apr 23; 46(4):513-8. PubMed ID: 26867606
    [Abstract] [Full Text] [Related]

  • 15. Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family.
    González-Del Angel A, Caro-Contreras A, Alcántara-Ortigoza MA, Ramos S, Cruz-Alcívar R, Moyers-Pérez P.
    Am J Med Genet A; 2018 Jan 23; 176(1):161-166. PubMed ID: 29150894
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 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 23; 185(1):73-82. PubMed ID: 33051983
    [Abstract] [Full Text] [Related]

  • 18. 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 23; 126():108479. PubMed ID: 34922328
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. New Magnetic Resonance Imaging (MRI) findings in a patient with hypochondroplasia caused by the FGFR3 N540K variant.
    Mimura PMP, Castro JTS, Jarry VM, França Júnior MC, Reis F.
    Arq Neuropsiquiatr; 2021 Jul 23; 79(7):656-657. PubMed ID: 34133497
    [No Abstract] [Full Text] [Related]

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