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Results: 1 to 20 of 228

1.

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]
2.

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
3.

Imaging of SHOX-associated anomalies.

Gahunia HK, Babyn PS, Kirsch S, Mendoza-Londono R.

Semin Musculoskelet Radiol. 2009 Sep;13(3):236-54. doi: 10.1055/s-0029-1237691. Epub 2009 Sep 1. Review.

PMID:
19724992
[PubMed - indexed for MEDLINE]
4.

SHOX: growth, Léri-Weill and Turner syndromes.

Blaschke RJ, Rappold GA.

Trends Endocrinol Metab. 2000 Aug;11(6):227-30. Review.

PMID:
10878753
[PubMed - indexed for MEDLINE]
5.

Complete SHOX deficiency causes Langer mesomelic dysplasia.

Zinn AR, Wei F, Zhang L, Elder FF, Scott CI Jr, Marttila P, Ross JL.

Am J Med Genet. 2002 Jun 15;110(2):158-63.

PMID:
12116254
[PubMed - indexed for MEDLINE]
6.

[From gene to disease; from SHOX to Lèri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature].

Kant SG, Drop SL.

Ned Tijdschr Geneeskd. 2001 Jul 28;145(30):1456-9. Review. Dutch.

PMID:
11503314
[PubMed - indexed for MEDLINE]
7.

[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment].

Jorge AA, Nishi MY, Funari MF, Souza SC, Arnhold IJ, Mendonça BB.

Arq Bras Endocrinol Metabol. 2008 Jul;52(5):765-73. Review. Portuguese.

PMID:
18797583
[PubMed - indexed for MEDLINE]
Free Article
8.

SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.

Cormier-Daire V, Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A.

Acta Paediatr Suppl. 1999 Dec;88(433):55-9.

PMID:
10626546
[PubMed - indexed for MEDLINE]
9.

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.

Schneider KU, Sabherwal N, Jantz K, Röth R, Muncke N, Blum WF, Cutler GB Jr, Rappold G.

Am J Hum Genet. 2005 Jul;77(1):89-96. Epub 2005 Jun 1.

PMID:
15931595
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.

Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, Zeller R, Robson SC, Binder G, Glass I, Strachan T, Lindsay S, Rappold GA.

Hum Mol Genet. 2000 Mar 22;9(5):695-702.

PMID:
10749976
[PubMed - indexed for MEDLINE]
Free Article
11.

Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.

Schneider KU, Marchini A, Sabherwal N, Röth R, Niesler B, Marttila T, Blaschke RJ, Lawson M, Dumic M, Rappold G.

Hum Mutat. 2005 Jul;26(1):44-52.

PMID:
15931687
[PubMed - indexed for MEDLINE]
12.

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
13.

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).

Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V.

Nat Genet. 1998 May;19(1):67-9.

PMID:
9590292
[PubMed - indexed for MEDLINE]
14.

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.

Jorge AA, Souza SC, Nishi MY, Billerbeck AE, Libório DC, Kim CA, Arnhold IJ, Mendonca BB.

Clin Endocrinol (Oxf). 2007 Jan;66(1):130-5.

PMID:
17201812
[PubMed - indexed for MEDLINE]
15.

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]
16.

Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome.

Sabherwal N, Schneider KU, Blaschke RJ, Marchini A, Rappold G.

J Cell Sci. 2004 Jun 15;117(Pt 14):3041-8. Epub 2004 Jun 1.

PMID:
15173321
[PubMed - indexed for MEDLINE]
Free Article
17.

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
18.

The human SHOX mutation database.

Niesler B, Fischer C, Rappold GA.

Hum Mutat. 2002 Nov;20(5):338-41.

PMID:
12402330
[PubMed - indexed for MEDLINE]
19.

Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.

Grigelioniene G, Schoumans J, Neumeyer L, Ivarsson A, Eklöf O, Enkvist O, Tordai P, Fosdal I, Myhre AG, Westphal O, Nilsson NO, Elfving M, Ellis I, Anderlid BM, Fransson I, Tapia-Paez I, Nordenskjöld M, Hagenäs L, Dumanski JP.

Hum Genet. 2001 Nov;109(5):551-8. Epub 2001 Oct 19.

PMID:
11735031
[PubMed - indexed for MEDLINE]
20.

Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.

Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, Heinrich U, Vlachopapadoupoulou E, Reinehr T, Onigata K, Ogata T.

J Clin Endocrinol Metab. 2002 Mar;87(3):1402-6.

PMID:
11889216
[PubMed - indexed for MEDLINE]

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