Scaglia PA - Search Results

1

A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.

Keselman AC, Martin A, Scaglia PA, Sanguineti NM, Armando R, Gutiérrez M, Braslavsky D, Ballerini MG, Ropelato MG, Ramirez L, Landi E, Domené S, Castro JF, Cassinelli H, Casali B, Del Rey G, Barros ÁC, Nevado Blanco J, Domené H, Jasper H, Arberas C, Rey RA, Lapunzina-Badía P, Bergadá I, Pennisi PA. Keselman AC, et al. Among authors: scaglia pa. Eur J Endocrinol. 2019 Nov;181(5):K43-K53. doi: 10.1530/EJE-19-0563. Eur J Endocrinol. 2019. PMID: 31539878

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

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

6

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 Free article. Review.

7

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. 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

8

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

9

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

10

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

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