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Results: 1 to 20 of 90

1.

Prepubertal girls with Turner syndrome and children with isolated SHOX deficiency have similar bone geometry at the radius.

Soucek O, Zapletalova J, Zemkova D, Snajderova M, Novotna D, Hirschfeldova K, Plasilova I, Kolouskova S, Rocek M, Hlavka Z, Lebl J, Sumnik Z.

J Clin Endocrinol Metab. 2013 Jul;98(7):E1241-7. doi: 10.1210/jc.2013-1113. Epub 2013 May 10.

PMID:
23666967
[PubMed - indexed for MEDLINE]
2.

Height outcome of the recombinant human growth hormone treatment in patients with SHOX gene haploinsufficiency: a meta-analysis.

Massart F, Bizzi M, Baggiani A, Miccoli M.

Pharmacogenomics. 2013 Apr;14(6):607-12. doi: 10.2217/pgs.13.44.

PMID:
23570464
[PubMed - indexed for MEDLINE]
3.

A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells.

Danzig J, Levine MA.

J Pediatr Endocrinol Metab. 2012;25(9-10):889-95. doi: 10.1515/jpem-2012-0173.

PMID:
23426818
[PubMed - indexed for MEDLINE]
4.

Bone geometry and volumetric bone density at the radius in patients with isolated SHOX deficiency.

Soucek O, Lebl J, Zapletalova J, Novotna D, Plasilova I, Kolouskova S, Zemkova D, Rocek M, Hlavka Z, Hirschfeldova K, Sumnik Z.

Exp Clin Endocrinol Diabetes. 2013 Feb;121(2):109-14. doi: 10.1055/s-0032-1333260. Epub 2013 Feb 20.

PMID:
23426705
[PubMed - indexed for MEDLINE]
5.

New roles of SHOX as regulator of target genes.

Rappold GA, Durand C, Decker E, Marchini A, Schneider KU.

Pediatr Endocrinol Rev. 2012 May;9 Suppl 2:733-8.

PMID:
22946287
[PubMed - indexed for MEDLINE]
6.

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.

J Med Genet. 2012 Jul;49(7):442-50. doi: 10.1136/jmedgenet-2011-100678.

PMID:
22791839
[PubMed - indexed for MEDLINE]
7.

Genotypes and phenotypes of children with SHOX deficiency in France.

Rosilio M, Huber-Lequesne C, Sapin H, Carel JC, Blum WF, Cormier-Daire V.

J Clin Endocrinol Metab. 2012 Jul;97(7):E1257-65. doi: 10.1210/jc.2011-3460. Epub 2012 Apr 19.

PMID:
22518848
[PubMed - indexed for MEDLINE]
8.

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.

Eur J Hum Genet. 2012 Jan;20(1):125-7. doi: 10.1038/ejhg.2011.210. Epub 2011 Nov 9.

PMID:
22071895
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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.

Gene. 2012 Jan 10;491(2):123-7. doi: 10.1016/j.gene.2011.10.011. Epub 2011 Oct 14.

PMID:
22020182
[PubMed - indexed for MEDLINE]
10.

The role of the SHOX gene in the pathophysiology of Turner syndrome.

Oliveira CS, Alves C.

Endocrinol Nutr. 2011 Oct;58(8):433-42. doi: 10.1016/j.endonu.2011.06.005. Epub 2011 Sep 16. Review.

PMID:
21925981
[PubMed - indexed for MEDLINE]
11.

Clinical and radiological characteristics of 22 children with SHOX anomalies and familial short stature suggestive of Léri-Weill Dyschondrosteosis.

Salmon-Musial AS, Rosilio M, David M, Huber C, Pichot E, Cormier-Daire V, Nicolino M.

Horm Res Paediatr. 2011;76(3):178-85. doi: 10.1159/000329359. Epub 2011 Sep 10.

PMID:
21912078
[PubMed - indexed for MEDLINE]
12.

Evaluation of SHOX copy number variations in patients with Müllerian aplasia.

Sandbacka M, Halttunen M, Jokimaa V, Aittomäki K, Laivuori H.

Orphanet J Rare Dis. 2011 Aug 2;6:53. doi: 10.1186/1750-1172-6-53.

PMID:
21806840
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Functional analysis of conserved non-coding regions around the short stature hox gene (shox) in whole zebrafish embryos.

Kenyon EJ, McEwen GK, Callaway H, Elgar G.

PLoS One. 2011;6(6):e21498. doi: 10.1371/journal.pone.0021498. Epub 2011 Jun 24.

PMID:
21731768
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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
15.

Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression.

Durand C, Roeth R, Dweep H, Vlatkovic I, Decker E, Schneider KU, Rappold G.

PLoS One. 2011 Mar 23;6(3):e18115. doi: 10.1371/journal.pone.0018115.

PMID:
21448463
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Short stature due to SHOX deficiency: genotype, phenotype, and therapy.

Binder G.

Horm Res Paediatr. 2011 Feb;75(2):81-9. doi: 10.1159/000324105. Epub 2011 Feb 4. Review.

PMID:
21325865
[PubMed - indexed for MEDLINE]
Free Article
17.

Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment.

Jorge AA, Funari MF, Nishi MY, Mendonca BB.

Pediatr Endocrinol Rev. 2010 Dec;8(2):79-85. Review.

PMID:
21150837
[PubMed - indexed for MEDLINE]
18.

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.

J Clin Endocrinol Metab. 2011 Feb;96(2):E404-12. doi: 10.1210/jc.2010-1689. Epub 2010 Dec 8.

PMID:
21147883
[PubMed - indexed for MEDLINE]
19.

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]
20.

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]
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