Similar articles for PMID: 17201812

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1

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

2

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

3

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

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. 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

5

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. Grigelioniene G, et al. Hum Genet. 2001 Nov;109(5):551-8. doi: 10.1007/s00439-001-0609-y. Epub 2001 Oct 19. Hum Genet. 2001. PMID: 11735031

6

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. Schneider KU, et al. Hum Mutat. 2005 Jul;26(1):44-52. doi: 10.1002/humu.20187. Hum Mutat. 2005. PMID: 15931687

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. 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

8

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. Binder G, et al. J Clin Endocrinol Metab. 2004 Sep;89(9):4403-8. doi: 10.1210/jc.2004-0591. J Clin Endocrinol Metab. 2004. PMID: 15356038

9

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

Jorge AA, Funari MF, Nishi MY, Mendonca BB. Jorge AA, et al. Pediatr Endocrinol Rev. 2010 Dec;8(2):79-85. Pediatr Endocrinol Rev. 2010. PMID: 21150837 Review.

10

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. Belin V, et al. Nat Genet. 1998 May;19(1):67-9. doi: 10.1038/ng0198-67. Nat Genet. 1998. PMID: 9590292

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