Rappold G - Search Results

1

Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial.

Blum WF, Crowe BJ, Quigley CA, Jung H, Cao D, Ross JL, Braun L, Rappold G; SHOX Study Group. Blum WF, et al. Among authors: rappold g. J Clin Endocrinol Metab. 2007 Jan;92(1):219-28. doi: 10.1210/jc.2006-1409. Epub 2006 Oct 17. J Clin Endocrinol Metab. 2007. PMID: 17047016 Clinical Trial.

2

GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial.

Blum WF, Ross JL, Zimmermann AG, Quigley CA, Child CJ, Kalifa G, Deal C, Drop SL, Rappold G, Cutler GB Jr. Blum WF, et al. Among authors: rappold g. J Clin Endocrinol Metab. 2013 Aug;98(8):E1383-92. doi: 10.1210/jc.2013-1222. Epub 2013 May 29. J Clin Endocrinol Metab. 2013. PMID: 23720786 Clinical Trial.

3

Radiological Features in Patients with Short Stature Homeobox-Containing (SHOX) Gene Deficiency and Turner Syndrome before and after 2 Years of GH Treatment.

Child CJ, Kalifa G, Jones C, Ross JL, Rappold GA, Quigley CA, Zimmermann AG, Garding G, Cutler GB Jr, Blum WF. Child CJ, et al. Among authors: rappold ga. Horm Res Paediatr. 2015;84(1):14-25. doi: 10.1159/000381712. Epub 2015 May 6. Horm Res Paediatr. 2015. PMID: 25967354 Clinical Trial.

4

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.

Schneider KU, Sabherwal N, Jantz K, Röth R, Muncke N, Blum WF, Cutler GB Jr, Rappold G. Schneider KU, et al. Among authors: rappold g. Am J Hum Genet. 2005 Jul;77(1):89-96. doi: 10.1086/431655. Epub 2005 Jun 1. Am J Hum Genet. 2005. PMID: 15931595 Free PMC article.

5

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. Rappold G, et al. J Med Genet. 2007 May;44(5):306-13. doi: 10.1136/jmg.2006.046581. Epub 2006 Dec 20. J Med Genet. 2007. PMID: 17182655 Free PMC article.

6

Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain.

Chen J, Wildhardt G, Zhong Z, Röth R, Weiss B, Steinberger D, Decker J, Blum WF, Rappold G. Chen J, et al. Among authors: rappold g. J Med Genet. 2009 Dec;46(12):834-9. doi: 10.1136/jmg.2009.067785. Epub 2009 Jul 2. J Med Genet. 2009. PMID: 19578035 Free PMC article.

7

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. Rappold GA, et al. J Clin Endocrinol Metab. 2002 Mar;87(3):1402-6. doi: 10.1210/jcem.87.3.8328. J Clin Endocrinol Metab. 2002. PMID: 11889216

8

A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia.

Sabherwal N, Blaschke RJ, Marchini A, Heine-Suner D, Rosell J, Ferragut J, Blum WF, Rappold G. Sabherwal N, et al. Among authors: rappold g. J Med Genet. 2004 Jun;41(6):e83. doi: 10.1136/jmg.2003.016402. J Med Genet. 2004. PMID: 15173249 Free PMC article. No abstract available.

9

Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome.

Adamson KA, Cross I, Batch JA, Rappold GA, Glass IA, Ball SG. Adamson KA, et al. Among authors: rappold ga. Clin Endocrinol (Oxf). 2002 May;56(5):671-5. doi: 10.1046/j.1365-2265.2002.01504.x. Clin Endocrinol (Oxf). 2002. PMID: 12035792

10

Expression of SHOX in human fetal and childhood growth plate.

Munns CJ, Haase HR, Crowther LM, Hayes MT, Blaschke R, Rappold G, Glass IA, Batch JA. Munns CJ, et al. Among authors: rappold g. J Clin Endocrinol Metab. 2004 Aug;89(8):4130-5. doi: 10.1210/jc.2003-032230. J Clin Endocrinol Metab. 2004. PMID: 15292358

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