PubMed for id: 108383236

Year	Number of Results
1993	1
2005	3
2006	1
2007	2
2009	1
2010	6
2011	3
2012	5
2013	5
2014	6
2015	3
2016	2
2018	1
2024	0

1

Unexpected phenotype in a boy with trisomy of the SHOX gene.

Iughetti L, Capone L, Elsedfy H, Bertorelli R, Predieri B, Bruzzi P, Forabosco A, El Kholy M. Iughetti L, et al. J Pediatr Endocrinol Metab. 2010 Jan-Feb;23(1-2):159-69. doi: 10.1515/jpem.2010.23.1-2.159. J Pediatr Endocrinol Metab. 2010. PMID: 20432819

2

Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer.

Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T. Fukami M, et al. Am J Med Genet A. 2005 Aug 15;137(1):72-6. doi: 10.1002/ajmg.a.30852. Am J Med Genet A. 2005. PMID: 16007631 Review.

3

Copy number variants in short children born small for gestational age.

Wit JM, van Duyvenvoorde HA, van Klinken JB, Caliebe J, Bosch CA, Lui JC, Gijsbers AC, Bakker E, Breuning MH, Oostdijk W, Losekoot M, Baron J, Binder G, Ranke MB, Ruivenkamp CA. Wit JM, et al. Horm Res Paediatr. 2014;82(5):310-8. doi: 10.1159/000367712. Epub 2014 Oct 8. Horm Res Paediatr. 2014. PMID: 25300501 Free PMC article. Clinical Trial.

4

Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect.

Bunyan DJ, Taylor EJ, Maloney VK, Blyth M. Bunyan DJ, et al. Am J Med Genet A. 2014 Nov;164A(11):2764-8. doi: 10.1002/ajmg.a.36724. Epub 2014 Aug 13. Am J Med Genet A. 2014. PMID: 25125269

5

Genotypes and phenotypes of children with SHOX deficiency in France.

Rosilio M, Huber-Lequesne C, Sapin H, Carel JC, Blum WF, Cormier-Daire V. Rosilio M, et al. J Clin Endocrinol Metab. 2012 Jul;97(7):E1257-65. doi: 10.1210/jc.2011-3460. Epub 2012 Apr 19. J Clin Endocrinol Metab. 2012. PMID: 22518848

6

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. Reish O, et al. Am J Med Genet A. 2010 Sep;152A(9):2230-5. doi: 10.1002/ajmg.a.33563. Am J Med Genet A. 2010. PMID: 20683993

7

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

8

Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer.

Fukami M, Kato F, Tajima T, Yokoya S, Ogata T. Fukami M, et al. Am J Hum Genet. 2006 Jan;78(1):167-70. doi: 10.1086/499254. Am J Hum Genet. 2006. PMID: 16385461 Free PMC article. No abstract available.

9

Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.

Gatta V, Palka C, Chiavaroli V, Franchi S, Cannataro G, Savastano M, Cotroneo AR, Chiarelli F, Mohn A, Stuppia L. Gatta V, et al. BMC Med Genet. 2014 Jul 23;15:87. doi: 10.1186/1471-2350-15-87. BMC Med Genet. 2014. PMID: 25056248 Free PMC article.

10

Langer mesomelic dysplasia in early fetuses: two cases and a literature review.

Ambrosetti F, Palicelli A, Bulfamante G, Rivasi F. Ambrosetti F, et al. Fetal Pediatr Pathol. 2014 Apr;33(2):71-83. doi: 10.3109/15513815.2013.807322. Epub 2013 Jul 24. Fetal Pediatr Pathol. 2014. PMID: 23883335 Review.

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