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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 24715719)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

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

  • 7. Further delineation of achondroplasia-hypochondroplasia complex with long-term survival.
    González-Del Angel A; Rius R; Alcántara-Ortigoza MA; Spector E; Del Castillo V; Mata-García LE
    Am J Med Genet A; 2018 May; 176(5):1225-1231. PubMed ID: 29681095
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

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

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 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. [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]  

  • 20. 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.