Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

    Results: 1 to 20 of 25

    1.

    Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).

    Albuisson J, Schmitt S, Baron S, Bézieau S, Benito-Sanz S, Heath KE.

    Eur J Hum Genet. 2012 Aug;20(8). doi: 10.1038/ejhg.2012.64. Epub 2012 Apr 18. No abstract available.

    PMID:
    22510850
    [PubMed - indexed for MEDLINE]
    2.

    A170P mutation in SHOX gene in a patient not presenting with Madelung deformity.

    Alvarez-Mora MI, Madrigal I, Rodriguez-Revenga L, Mur A, Calvo D, Pascual I Bardají J, Milà M.

    J Clin Pathol. 2012 Sep;65(9):844-6. doi: 10.1136/jclinpath-2011-200626. Epub 2012 Mar 29.

    PMID:
    22461651
    [PubMed - indexed for MEDLINE]
    3.

    Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

    Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, Ezquieta B, Montané LS, Vendrell T, Cruz J, Santos F, Rodríguez JI, Pozo J, Argente J, Kalaydjieva L, Gracía R, Campos-Barros A, Benito-Sanz S, Heath KE.

    Eur J Hum Genet. 2011 Dec;19(12):1218-25. doi: 10.1038/ejhg.2011.128. Epub 2011 Jun 29.

    PMID:
    21712857
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previously affected family.

    Mazza V, Latella S, Pati M, Re C, Bertucci E, Cani C, Percesepe A.

    Prenat Diagn. 2011 Aug;31(8):830-1. doi: 10.1002/pd.2763. Epub 2011 Jun 21. No abstract available.

    PMID:
    21692083
    [PubMed - indexed for MEDLINE]
    5.

    FGFR3 is a target of the homeobox transcription factor SHOX in limb development.

    Decker E, Durand C, Bender S, Rödelsperger C, Glaser A, Hecht J, Schneider KU, Rappold G.

    Hum Mol Genet. 2011 Apr 15;20(8):1524-35. doi: 10.1093/hmg/ddr030. Epub 2011 Jan 27.

    PMID:
    21273290
    [PubMed - indexed for MEDLINE]
    Free Article
    6.

    The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.

    Kant SG, van der Kamp HJ, Kriek M, Bakker E, Bakker B, Hoffer MJ, van Bunderen P, Losekoot M, Maas SM, Wit JM, Rappold G, Breuning MH.

    J Clin Endocrinol Metab. 2011 Feb;96(2):E356-9. doi: 10.1210/jc.2010-1505. Epub 2010 Nov 10.

    PMID:
    21068148
    [PubMed - indexed for MEDLINE]
    Free Article
    7.

    Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks.

    Reish O, Huber C, Altarescu G, Chapman-Shimshoni D, Levy-Lahad E, Renbaum P, Mashevich M, Munnich A, Cormier-Daire V.

    Am J Med Genet A. 2010 Sep;152A(9):2230-5. doi: 10.1002/ajmg.a.33563.

    PMID:
    20683993
    [PubMed - indexed for MEDLINE]
    8.

    Growth hormone therapy in patients with short stature homeobox-gene (SHOX) deficiency.

    Iughetti L, Madeo S, Predieri B.

    J Endocrinol Invest. 2010 Jun;33(6 Suppl):34-8.

    PMID:
    21057184
    [PubMed - indexed for MEDLINE]
    9.

    Bone dysplasias: the A, B, C of radiographic interpretation.

    Castriota-Scanderbeg A.

    J Endocrinol Invest. 2010 Jun;33(6 Suppl):26-9.

    PMID:
    21057182
    [PubMed - indexed for MEDLINE]
    10.

    The SHOX region and its mutations.

    Capone L, Iughetti L, Sabatini S, Bacciaglia A, Forabosco A.

    J Endocrinol Invest. 2010 Jun;33(6 Suppl):11-4.

    PMID:
    21057179
    [PubMed - indexed for MEDLINE]
    11.

    Epidemiology of SHOX deficiency.

    Nicolosi A, Caruso-Nicoletti M.

    J Endocrinol Invest. 2010 Jun;33(6 Suppl):7-10.

    PMID:
    21057178
    [PubMed - indexed for MEDLINE]
    12.

    Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia.

    Shah BC, Moran ES, Zinn AR, Pappas JG.

    J Clin Endocrinol Metab. 2009 Dec;94(12):5028-33. doi: 10.1210/jc.2009-0679. Epub 2009 Oct 22.

    PMID:
    19850687
    [PubMed - indexed for MEDLINE]
    Free Article
    13.

    Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.

    Bleyl SB, Byrne JL, South ST, Dries DC, Stevenson DA, Rope AF, Vianna-Morgante AM, Schoenwolf GC, Kivlin JD, Brothman A, Carey JC.

    Am J Med Genet A. 2007 Dec 1;143A(23):2785-95.

    PMID:
    17994562
    [PubMed - indexed for MEDLINE]
    14.

    The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia.

    Bertorelli R, Capone L, Ambrosetti F, Garavelli L, Varriale L, Mazza V, Stanghellini I, Percesepe A, Forabosco A.

    Clin Genet. 2007 Nov;72(5):490-1. No abstract available.

    PMID:
    17935511
    [PubMed - indexed for MEDLINE]
    15.

    SHOX at a glance: from gene to protein.

    Marchini A, Rappold G, Schneider KU.

    Arch Physiol Biochem. 2007 Jun;113(3):116-23. Review.

    PMID:
    17922307
    [PubMed - indexed for MEDLINE]
    16.

    Shox2 is required for chondrocyte proliferation and maturation in proximal limb skeleton.

    Yu L, Liu H, Yan M, Yang J, Long F, Muneoka K, Chen Y.

    Dev Biol. 2007 Jun 15;306(2):549-59. Epub 2007 Apr 1.

    PMID:
    17481601
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD).

    Campos-Barros A, Benito-Sanz S, Ross JL, Zinn AR, Heath KE.

    Am J Med Genet A. 2007 May 1;143A(9):933-8.

    PMID:
    17394206
    [PubMed - indexed for MEDLINE]
    18.

    Short stature and dysmorphology associated with defects in the SHOX gene.

    Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E.

    Hormones (Athens). 2006 Apr-Jun;5(2):107-18. Review.

    PMID:
    16807223
    [PubMed - indexed for MEDLINE]
    Free Article
    19.

    A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development.

    Cobb J, Dierich A, Huss-Garcia Y, Duboule D.

    Proc Natl Acad Sci U S A. 2006 Mar 21;103(12):4511-5. Epub 2006 Mar 13.

    PMID:
    16537395
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    20.

    A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

    Benito-Sanz S, Thomas NS, Huber C, Gorbenko del Blanco D, Aza-Carmona M, Crolla JA, Maloney V, Rappold G, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE.

    Am J Hum Genet. 2005 Oct;77(4):533-44. Epub 2005 Aug 15. Erratum in: Am J Hum Genet. 2005 Dec;77(6):1131. Huber, Celine [corrected to Huber, Céline]; Del Blanco, Darya Gorbenko [corrected to Gorbenko del Blanco, Darya]; Rappold, Gudrun [added]; Argente, Jesus [corrected to Argente, Jesús]; Cormier-Daire, Valerie [corrected to Cormier-Daire, Valrie].

    PMID:
    16175500
    [PubMed - indexed for MEDLINE]
    Free PMC Article

      Display Settings:

      Format
      Items per page
      Sort by

      Send to:

      Choose Destination

      Supplemental Content

      Find related data

      Search details

      See more...

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...
      Write to the Help Desk