Similar articles for PMID: 22791839

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1

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.

Benito-Sanz S, Royo JL, Barroso E, Paumard-Hernández B, Barreda-Bonis AC, Liu P, Gracía R, Lupski JR, Campos-Barros Á, Gómez-Skarmeta JL, Heath KE. Benito-Sanz S, et al. J Med Genet. 2012 Jul;49(7):442-50. doi: 10.1136/jmedgenet-2011-100678. J Med Genet. 2012. PMID: 22791839

2

PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.

Benito-Sanz S, del Blanco DG, Aza-Carmona M, Magano LF, Lapunzina P, Argente J, Campos-Barros A, Heath KE. Benito-Sanz S, et al. Hum Mutat. 2006 Oct;27(10):1062. doi: 10.1002/humu.9456. Hum Mutat. 2006. PMID: 16941489

3

Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

Benito-Sanz S, Barroso E, Heine-Suñer D, Hisado-Oliva A, Romanelli V, Rosell J, Aragones A, Caimari M, Argente J, Ross JL, Zinn AR, Gracia R, Lapunzina P, Campos-Barros A, Heath KE. Benito-Sanz S, et al. J Clin Endocrinol Metab. 2011 Feb;96(2):E404-12. doi: 10.1210/jc.2010-1689. Epub 2010 Dec 8. J Clin Endocrinol Metab. 2011. PMID: 21147883

4

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.

Benito-Sanz S, Aza-Carmona M, Rodríguez-Estevez A, Rica-Etxebarria I, Gracia R, Campos-Barros A, Heath KE. Benito-Sanz S, et al. Eur J Hum Genet. 2012 Jan;20(1):125-7. doi: 10.1038/ejhg.2011.210. Epub 2011 Nov 9. Eur J Hum Genet. 2012. PMID: 22071895 Free PMC article.

5

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.

Hirschfeldova K, Solc R, Baxova A, Zapletalova J, Kebrdlova V, Gaillyova R, Prasilova S, Soukalova J, Mihalova R, Lnenicka P, Florianova M, Stekrova J. Hirschfeldova K, et al. Gene. 2012 Jan 10;491(2):123-7. doi: 10.1016/j.gene.2011.10.011. Epub 2011 Oct 14. Gene. 2012. PMID: 22020182

6

Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).

Barroso E, Benito-Sanz S, Belinchón A, Yuste-Checa P, Gracia R, Aragones A, Campos-Barros A, Heath KE. Barroso E, et al. Eur J Med Genet. 2010 Jul-Aug;53(4):204-7. doi: 10.1016/j.ejmg.2010.04.003. Epub 2010 Apr 20. Eur J Med Genet. 2010. PMID: 20412871

7

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. Benito-Sanz S, et al. Am J Hum Genet. 2005 Oct;77(4):533-44. doi: 10.1086/449313. Epub 2005 Aug 15. Am J Hum Genet. 2005. PMID: 16175500 Free PMC article.

8

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. Jorge AA, et al. Clin Endocrinol (Oxf). 2007 Jan;66(1):130-5. doi: 10.1111/j.1365-2265.2006.02698.x. Clin Endocrinol (Oxf). 2007. PMID: 17201812

9

The SHOX region and its mutations.

Capone L, Iughetti L, Sabatini S, Bacciaglia A, Forabosco A. Capone L, et al. J Endocrinol Invest. 2010 Jun;33(6 Suppl):11-4. J Endocrinol Invest. 2010. PMID: 21057179

10

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.

Aza-Carmona M, Shears DJ, Yuste-Checa P, Barca-Tierno V, Hisado-Oliva A, Belinchón A, Benito-Sanz S, Rodríguez JI, Argente J, Campos-Barros A, Scambler PJ, Heath KE. Aza-Carmona M, et al. Hum Mol Genet. 2011 Apr 15;20(8):1547-59. doi: 10.1093/hmg/ddr032. Epub 2011 Jan 24. Hum Mol Genet. 2011. PMID: 21262861

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