Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 123

1.

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]
2.

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]
3.

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]
4.

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]
5.

SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.

Binder G, Renz A, Martinez A, Keselman A, Hesse V, Riedl SW, Häusler G, Fricke-Otto S, Frisch H, Heinrich JJ, Ranke MB.

J Clin Endocrinol Metab. 2004 Sep;89(9):4403-8.

PMID:
15356038
[PubMed - indexed for MEDLINE]
6.

High incidence of SHOX anomalies in individuals with short stature.

Huber C, Rosilio M, Munnich A, Cormier-Daire V; French SHOX GeNeSIS Module.

J Med Genet. 2006 Sep;43(9):735-9. Epub 2006 Apr 5.

PMID:
16597678
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature.

Binder G, Ranke MB, Martin DD.

J Clin Endocrinol Metab. 2003 Oct;88(10):4891-6.

PMID:
14557470
[PubMed - indexed for MEDLINE]
8.

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]
9.

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
10.

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
11.

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]
12.

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.

Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B.

J Med Genet. 2007 May;44(5):306-13. Epub 2006 Dec 20.

PMID:
17182655
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
[PubMed - indexed for MEDLINE]
14.

Phenotypes Associated with SHOX Deficiency.

Ross JL, Scott C Jr, Marttila P, Kowal K, Nass A, Papenhausen P, Abboudi J, Osterman L, Kushner H, Carter P, Ezaki M, Elder F, Wei F, Chen H, Zinn AR.

J Clin Endocrinol Metab. 2001 Dec;86(12):5674-80.

PMID:
11739418
[PubMed - indexed for MEDLINE]
15.

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]
16.

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]
17.

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
[PubMed - indexed for MEDLINE]
18.

The SHOX gene and the short stature. Roundtable on diagnosis and treatment of short stature due to SHOX haploinsufficiency: how genetics, radiology and anthropometry can help the pediatrician in the diagnostic process Padova (April 20th, 2011).

De Sanctis V, Tosetto I, Iughetti L, Antoniazzi F, Clementi M, Toffolutti T, Facchin P, Monti E, Pisanello L, Tonini G, Greggio NA.

Pediatr Endocrinol Rev. 2012 Aug;9(4):727-33.

PMID:
23304810
[PubMed - indexed for MEDLINE]
19.

Quantitative real-time polymerase chain reaction (RQ-PCR) for the rapid detection of SHOX haploinsufficiency in Leri-Weill Syndrome.

Tan YM, Loke KY.

Diagn Mol Pathol. 2005 Dec;14(4):247-9.

PMID:
16319696
[PubMed - indexed for MEDLINE]
20.

Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.

Sabherwal N, Bangs F, Röth R, Weiss B, Jantz K, Tiecke E, Hinkel GK, Spaich C, Hauffa BP, van der Kamp H, Kapeller J, Tickle C, Rappold G.

Hum Mol Genet. 2007 Jan 15;16(2):210-22. Epub 2007 Jan 2.

PMID:
17200153
[PubMed - indexed for MEDLINE]
Free Article
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk