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Items: 1 to 20 of 234

1.

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
2.

[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.

3.

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
4.

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
5.

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
6.

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
7.

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
8.

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].

9.

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
10.
11.

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.

12.

[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
13.

Epidemiology of SHOX deficiency.

Nicolosi A, Caruso-Nicoletti M.

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

PMID:
21057178
14.

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
15.

Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature.

Shanske AL, Puri M, Marshall B, Saenger P.

Horm Res. 2007;67(2):61-6. Epub 2006 Oct 6.

PMID:
17028440
16.

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.

Hum Mutat. 2006 Oct;27(10):1062.

PMID:
16941489
17.

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.

Hum Mol Genet. 2011 Apr 15;20(8):1547-59. doi: 10.1093/hmg/ddr032. Epub 2011 Jan 24.

PMID:
21262861
18.

SHOX haploinsufficiency and its modifying factors.

Ogata T.

J Pediatr Endocrinol Metab. 2002 Dec;15 Suppl 5:1289-94. Review.

PMID:
12510982
19.

Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis.

Rodríguez FA, Unanue N, Hernandez MI, Basaure J, Heath KE, Cassorla F.

J Pediatr Endocrinol Metab. 2013;26(7-8):729-34. doi: 10.1515/jpem-2013-0023.

PMID:
23729538
20.

Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone.

Binder G, Schwarze CP, Ranke MB.

J Clin Endocrinol Metab. 2000 Jan;85(1):245-9.

PMID:
10634394

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