Scaglia PA - Search Results

1

Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.

Domené HM, Scaglia PA, Lteif A, Mahmud FH, Kirmani S, Frystyk J, Bedecarrás P, Gutiérrez M, Jasper HG. Domené HM, et al. Among authors: scaglia pa. J Clin Endocrinol Metab. 2007 Nov;92(11):4444-50. doi: 10.1210/jc.2007-1152. Epub 2007 Aug 28. J Clin Endocrinol Metab. 2007. PMID: 17726072

2

The C105fs114X is the prevalent thyrotropin beta-subunit gene mutation in Argentinean patients with congenital central hypothyroidism.

Domené HM, Gruñeiro-Papendieck L, Chiesa A, Iorcansky S, Herzovich VC, Papazian R, Forclaz V, Prieto L, Sansó G, Scaglia P, Bre M, Chamoux A, Heinrich JJ. Domené HM, et al. Horm Res. 2004;61(1):41-6. doi: 10.1159/000075196. Epub 2003 Nov 27. Horm Res. 2004. PMID: 14646401

3

Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene.

Domené HM, Bengolea SV, Martínez AS, Ropelato MG, Pennisi P, Scaglia P, Heinrich JJ, Jasper HG. Domené HM, et al. N Engl J Med. 2004 Feb 5;350(6):570-7. doi: 10.1056/NEJMoa013100. N Engl J Med. 2004. PMID: 14762184 Free article. No abstract available.

4

Normal growth spurt and final height despite low levels of all forms of circulating insulin-like growth factor-I in a patient with acid-labile subunit deficiency.

Domené HM, Martínez AS, Frystyk J, Bengolea SV, Ropelato MG, Scaglia PA, Chen JW, Heuck C, Wolthers OD, Heinrich JJ, Jasper HG. Domené HM, et al. Among authors: scaglia pa. Horm Res. 2007;67(5):243-9. doi: 10.1159/000098479. Epub 2007 Jan 10. Horm Res. 2007. PMID: 17213728

5

Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.

Domené HM, Hwa V, Argente J, Wit JM, Camacho-Hübner C, Jasper HG, Pozo J, van Duyvenvoorde HA, Yakar S, Fofanova-Gambetti OV, Rosenfeld RG; International ALS Collaborative Group. Domené HM, et al. Horm Res. 2009;72(3):129-41. doi: 10.1159/000232486. Epub 2009 Sep 1. Horm Res. 2009. PMID: 19729943 Review.

6

Deficiency of the insulin-like growth factor-binding protein acid-labile subunit (ALS) of the circulating ternary complex in children with short stature.

Domené HM, Scaglia PA, Jasper HG. Domené HM, et al. Among authors: scaglia pa. Pediatr Endocrinol Rev. 2010 Jun;7(4):339-46. Pediatr Endocrinol Rev. 2010. PMID: 20679994

7

A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease.

Scaglia PA, Martínez AS, Feigerlová E, Bezrodnik L, Gaillard MI, Di Giovanni D, Ballerini MG, Jasper HG, Heinrich JJ, Fang P, Domené HM, Rosenfeld RG, Hwa V. Scaglia PA, et al. J Clin Endocrinol Metab. 2012 May;97(5):E830-9. doi: 10.1210/jc.2011-2554. Epub 2012 Mar 14. J Clin Endocrinol Metab. 2012. PMID: 22419735

8

Severe congenital non-autoimmune hyperthyroidism associated to a mutation in the extracellular domain of thyrotropin receptor gene.

Scaglia PA, Chiesa A, Bastida G, Pacin M, Domené HM, Gruñeiro-Papendieck L. Scaglia PA, et al. Arq Bras Endocrinol Metabol. 2012 Nov;56(8):513-8. doi: 10.1590/s0004-27302012000800009. Arq Bras Endocrinol Metabol. 2012. PMID: 23295291

9

Type IA isolated growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus.

Keselman A, Scaglia PA, Rodríguez Prieto MS, Ballerini MG, Rodríguez ME, Ropelato MG, Bergadá I, Jasper HG, Domené HM. Keselman A, et al. Among authors: scaglia pa. Arq Bras Endocrinol Metabol. 2012 Nov;56(8):558-63. doi: 10.1590/s0004-27302012000800016. Arq Bras Endocrinol Metabol. 2012. PMID: 23295298

10

Association of serum components of the GH-IGFs-IGFBPs system with GHR-exon 3 polymorphism in normal and idiopathic short stature children.

Ballerini MG, Domené HM, Scaglia P, Martínez A, Keselman A, Jasper HG, Ropelato MG. Ballerini MG, et al. Growth Horm IGF Res. 2013 Dec;23(6):229-36. doi: 10.1016/j.ghir.2013.08.003. Epub 2013 Aug 19. Growth Horm IGF Res. 2013. PMID: 23999134

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

28 results

Search Page

Filters