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    Results: 1 to 20 of 74

    1.

    Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia.

    Lorget F, Kaci N, Peng J, Benoist-Lasselin C, Mugniery E, Oppeneer T, Wendt DJ, Bell SM, Bullens S, Bunting S, Tsuruda LS, O'Neill CA, Di Rocco F, Munnich A, Legeai-Mallet L.

    Am J Hum Genet. 2012 Dec 7;91(6):1108-14. doi: 10.1016/j.ajhg.2012.10.014. Epub 2012 Nov 29.

    PMID:
    23200862
    [PubMed - indexed for MEDLINE]
    2.

    Direct assessment of the effect of the Gly380Arg achondroplasia mutation on FGFR3 dimerization using quantitative imaging FRET.

    Placone J, Hristova K.

    PLoS One. 2012;7(10):e46678. doi: 10.1371/journal.pone.0046678. Epub 2012 Oct 9.

    PMID:
    23056398
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    3.

    A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia.

    Jin M, Yu Y, Qi H, Xie Y, Su N, Wang X, Tan Q, Luo F, Zhu Y, Wang Q, Du X, Xian CJ, Liu P, Huang H, Shen Y, Deng CX, Chen D, Chen L.

    Hum Mol Genet. 2012 Dec 15;21(26):5443-55. doi: 10.1093/hmg/dds390. Epub 2012 Sep 26.

    PMID:
    23014564
    [PubMed - indexed for MEDLINE]
    4.

    Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy.

    Bober MB, Taylor M, Heinle R, Mackenzie W.

    Am J Med Genet A. 2012 Sep;158A(9):2336-41. doi: 10.1002/ajmg.a.35530. Epub 2012 Aug 7.

    PMID:
    22888019
    [PubMed - indexed for MEDLINE]
    5.

    Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association.

    Ros-Pérez P, Regidor FJ, Colino E, Martínez-Payo C, Barroso E, Heath KE.

    BMC Pediatr. 2012 Jun 29;12:88. doi: 10.1186/1471-2431-12-88.

    PMID:
    22747519
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    6.

    Surgical decompression of thoracic spinal stenosis in achondroplasia: indication and outcome.

    Vleggeert-Lankamp C, Peul W.

    J Neurosurg Spine. 2012 Aug;17(2):164-72. doi: 10.3171/2012.4.SPINE1220. Epub 2012 Jun 22.

    PMID:
    22724572
    [PubMed - indexed for MEDLINE]
    7.

    Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia.

    Julliand S, Boulé M, Baujat G, Ramirez A, Couloigner V, Beydon N, Zerah M, di Rocco F, Lemerrer M, Cormier-Daire V, Fauroux B.

    Am J Med Genet A. 2012 Aug;158A(8):1987-93. doi: 10.1002/ajmg.a.35441. Epub 2012 Jun 18.

    PMID:
    22711495
    [PubMed - indexed for MEDLINE]
    8.

    Cervical high-intensity intramedullary lesions in achondroplasia: aetiology, prevalence and clinical relevance.

    Brouwer PA, Lubout CM, van Dijk JM, Vleggeert-Lankamp CL.

    Eur Radiol. 2012 Oct;22(10):2264-72. doi: 10.1007/s00330-012-2488-0. Epub 2012 May 26.

    PMID:
    22638916
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia.

    Xie Y, Su N, Jin M, Qi H, Yang J, Li C, Du X, Luo F, Chen B, Shen Y, Huang H, Xian CJ, Deng C, Chen L.

    Hum Mol Genet. 2012 Sep 15;21(18):3941-55. doi: 10.1093/hmg/dds181. Epub 2012 May 24.

    PMID:
    22634226
    [PubMed - indexed for MEDLINE]
    10.

    FGFR3 targeting strategies for achondroplasia.

    Laederich MB, Horton WA.

    Expert Rev Mol Med. 2012 Jan 19;14:e11. doi: 10.1017/erm.2012.4. Review.

    PMID:
    22559284
    [PubMed - indexed for MEDLINE]
    11.

    Sagittal spinopelvic parameters in children with achondroplasia: identification of 2 distinct groups.

    Karikari IO, Mehta AI, Solakoglu C, Bagley CA, Ain MC, Gottfried ON.

    J Neurosurg Spine. 2012 Jul;17(1):57-60. doi: 10.3171/2012.3.SPINE11735. Epub 2012 Apr 27.

    PMID:
    22540171
    [PubMed - indexed for MEDLINE]
    12.

    Effect of the G375C and G346E achondroplasia mutations on FGFR3 activation.

    He L, Serrano C, Niphadkar N, Shobnam N, Hristova K.

    PLoS One. 2012;7(4):e34808. doi: 10.1371/journal.pone.0034808. Epub 2012 Apr 18.

    PMID:
    22529939
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    Physeal growth arrest after tibial lengthening in achondroplasia: 23 children followed to skeletal maturity.

    Song SH, Agashe MV, Huh YJ, Hwang SY, Song HR.

    Acta Orthop. 2012 Jun;83(3):282-7. doi: 10.3109/17453674.2012.678802. Epub 2012 Apr 11.

    PMID:
    22489887
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    Atlanto-axial instability in achondroplastic dwarfs: a report of two cases and literature review.

    Mohindra S, Tripathi M, Arora S.

    Pediatr Neurosurg. 2011;47(4):284-7. doi: 10.1159/000335433. Epub 2012 Mar 29. Review.

    PMID:
    22472460
    [PubMed - indexed for MEDLINE]
    15.

    Growth disturbance after lengthening of the lower limb and quantitative assessment of physeal closure in skeletally immature patients with achondroplasia.

    Song SH, Kim SE, Agashe MV, Lee H, Refai MA, Park YE, Choi HJ, Park JH, Song HR.

    J Bone Joint Surg Br. 2012 Apr;94(4):556-63. doi: 10.1302/0301-620X.94B4.28375.

    PMID:
    22434475
    [PubMed - indexed for MEDLINE]
    16.

    Helping parents of children with monogenetic disorders understand developmental trajectories: lessons from achondroplasia.

    Msall ME.

    Dev Med Child Neurol. 2012 Jun;54(6):488-9. doi: 10.1111/j.1469-8749.2012.04267.x. Epub 2012 Mar 12. No abstract available.

    PMID:
    22409722
    [PubMed - indexed for MEDLINE]
    17.

    Development in children with achondroplasia: a prospective clinical cohort study.

    Ireland PJ, Donaghey S, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S, Johnston LM.

    Dev Med Child Neurol. 2012 Jun;54(6):532-7. doi: 10.1111/j.1469-8749.2012.04234.x. Epub 2012 Mar 12.

    PMID:
    22409389
    [PubMed - indexed for MEDLINE]
    18.

    Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.

    He X, Xie F, Ren ZR.

    Genet Test Mol Biomarkers. 2012 Apr;16(4):297-301. doi: 10.1089/gtmb.2011.0113. Epub 2012 Feb 17.

    PMID:
    22339077
    [PubMed - indexed for MEDLINE]
    19.

    Comparison between upper and lower limb lengthening in patients with achondroplasia: a retrospective study.

    Kim SJ, Agashe MV, Song SH, Choi HJ, Lee H, Song HR.

    J Bone Joint Surg Br. 2012 Jan;94(1):128-33. doi: 10.1302/0301-620X.94B1.27567.

    PMID:
    22219260
    [PubMed - indexed for MEDLINE]
    20.

    Endoscopic third ventriculostomy in hydrocephalus associated with achondroplasia.

    Swift D, Nagy L, Robertson B.

    J Neurosurg Pediatr. 2012 Jan;9(1):73-81. doi: 10.3171/2011.10.PEDS1169.

    PMID:
    22208325
    [PubMed - indexed for MEDLINE]

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