Scaglia P - Search Results

1

17alpha-hydroxyprogesterone and cortisol serum levels in neonates and young children: influence of age, gestational age, gender and methodological procedures.

Ballerini MG, Chiesa A, Scaglia P, Gruñeiro-Papendieck L, Heinrich JJ, Ropelato MG. Ballerini MG, et al. Among authors: scaglia p. J Pediatr Endocrinol Metab. 2010 Jan-Feb;23(1-2):121-32. doi: 10.1515/jpem.2010.23.1-2.121. J Pediatr Endocrinol Metab. 2010. PMID: 20432815

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. Among authors: scaglia p. 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. Among authors: scaglia p. 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. Horm Res. 2007;67(5):243-9. doi: 10.1159/000098479. Epub 2007 Jan 10. Horm Res. 2007. PMID: 17213728

5

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

6

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

7

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. Arq Bras Endocrinol Metabol. 2012 Nov;56(8):558-63. doi: 10.1590/s0004-27302012000800016. Arq Bras Endocrinol Metabol. 2012. PMID: 23295298

8

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. Among authors: scaglia p. 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

9

Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system.

Domené HM, Scaglia PA, Martínez AS, Keselman AC, Karabatas LM, Pipman VR, Bengolea SV, Guida MC, Ropelato MG, Ballerini MG, Lescano EM, Blanco MA, Heinrich JJ, Rey RA, Jasper HG. Domené HM, et al. Horm Res Paediatr. 2013;80(6):413-23. doi: 10.1159/000355412. Epub 2013 Dec 6. Horm Res Paediatr. 2013. PMID: 24335034

10

Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency.

Scaglia PA, Keselman AC, Braslavsky D, Martucci LC, Karabatas LM, Domené S, Gutiérrez ML, Ballerini MG, Ropelato MG, Spinola-Castro A, Siviero-Miachon AA, Tartuci JS, Rodríguez Azrak MS, Rey RA, Jasper HG, Bergadá I, Domené HM. Scaglia PA, et al. Clin Endocrinol (Oxf). 2017 Sep;87(3):300-311. doi: 10.1111/cen.13361. Epub 2017 Jun 14. Clin Endocrinol (Oxf). 2017. PMID: 28445628

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