Forabosco A - Search Results

1

SHOX point mutations and deletions in Leri-Weill dyschondrosteosis.

Falcinelli C, Iughetti L, Percesepe A, Calabrese G, Chiarelli F, Cisternino M, De Sanctis L, Pucarelli I, Radetti G, Wasniewska M, Weber G, Stuppia L, Bernasconi S, Forabosco A. Falcinelli C, et al. Among authors: forabosco a. J Med Genet. 2002 Jun;39(6):E33. doi: 10.1136/jmg.39.6.e33. J Med Genet. 2002. PMID: 12070265 Free PMC article. No abstract available.

2

The SHOX region and its mutations.

Capone L, Iughetti L, Sabatini S, Bacciaglia A, Forabosco A. Capone L, et al. Among authors: forabosco a. J Endocrinol Invest. 2010 Jun;33(6 Suppl):11-4. J Endocrinol Invest. 2010. PMID: 21057179

3

SHOX gene in Leri-Weill syndrome and in idiopathic short stature.

Bernasconi S, Mariani S, Falcinelli C, Milioli S, Iughetti L, Forabosco A. Bernasconi S, et al. Among authors: forabosco a. J Endocrinol Invest. 2001 Oct;24(9):737-41. doi: 10.1007/BF03343919. J Endocrinol Invest. 2001. PMID: 11716161 Review. No abstract available.

4

Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.

Bunyan DJ, Baffico M, Capone L, Vannelli S, Iughetti L, Schmitt S, Taylor EJ, Herridge AA, Shears D, Forabosco A, Coviello DA. Bunyan DJ, et al. Among authors: forabosco a. Am J Med Genet A. 2016 Apr;170A(4):949-57. doi: 10.1002/ajmg.a.37524. Epub 2015 Dec 24. Am J Med Genet A. 2016. PMID: 26698168

5

Non-invasive first trimester fetal gender assignment in pregnancies at risk for X-linked recessive diseases.

Mazza V, Falcinelli C, Percesepe A, Paganelli S, Volpe A, Forabosco A. Mazza V, et al. Among authors: forabosco a. Prenat Diagn. 2002 Oct;22(10):919-24. doi: 10.1002/pd.434. Prenat Diagn. 2002. PMID: 12378578

6

The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia.

Bertorelli R, Capone L, Ambrosetti F, Garavelli L, Varriale L, Mazza V, Stanghellini I, Percesepe A, Forabosco A. Bertorelli R, et al. Among authors: forabosco a. Clin Genet. 2007 Nov;72(5):490-1. doi: 10.1111/j.1399-0004.2007.00875.x. Clin Genet. 2007. PMID: 17935511 No abstract available.

7

Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature.

Mariani S, Iughetti L, Bertorelli R, Coviello D, Pellegrini M, Forabosco A, Bernasconi S. Mariani S, et al. Among authors: forabosco a. J Pediatr Endocrinol Metab. 2003 Feb;16(2):225-32. doi: 10.1515/jpem.2003.16.2.225. J Pediatr Endocrinol Metab. 2003. PMID: 12713262

8

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. Among authors: forabosco a. 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

9

Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses.

Forabosco A, Percesepe A, Santucci S. Forabosco A, et al. Eur J Hum Genet. 2009 Jul;17(7):897-903. doi: 10.1038/ejhg.2008.265. Epub 2009 Jan 21. Eur J Hum Genet. 2009. PMID: 19156167 Free PMC article.

10

Analysis of fetal sex in TCC sample DNA: a contribution to the validation of this approach.

Falcinelli C, Battafarano S, Neri C, Mazza V, Ranzi A, Forabosco A. Falcinelli C, et al. Among authors: forabosco a. Prenat Diagn. 1998 Nov;18(11):1109-16. Prenat Diagn. 1998. PMID: 9854716

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