BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

170 related articles for article (PubMed ID: 23045425)

  • 1. 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; (210):77-82. PubMed ID: 23045425
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [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; 15(11):932-6. PubMed ID: 24229583
    [TBL] [Abstract][Full Text] [Related]  

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

  • 6. 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; 185(1):73-82. PubMed ID: 33051983
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 158A(10):2456-62. PubMed ID: 22903874
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 423():62-5. PubMed ID: 23726269
    [TBL] [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; 58(8):705-8. PubMed ID: 26716907
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare
    Ekinci S; Ülger Y; Acar MO; Ceran A; Aycan Z; Fitoz ÖS; Ilgın Ruhi H
    J Pediatr Endocrinol Metab; 2022 Aug; 35(8):1097-1101. PubMed ID: 35438268
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 98(4):e14157. PubMed ID: 30681580
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 641():355-360. PubMed ID: 29080836
    [TBL] [Abstract][Full Text] [Related]  

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

  • 14. 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; 31(11):1279-1284. PubMed ID: 30335613
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 79(7):656-657. PubMed ID: 34133497
    [No Abstract]   [Full Text] [Related]  

  • 18. High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with
    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
    [No 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; 4(4):220-2. PubMed ID: 23149434
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 176(1):161-166. PubMed ID: 29150894
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.