Scaglia P - Search Results

1

Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development.

Correa Brito L, Grinspon RP, Lopez Dacal J, Scaglia P, Esnaola Azcoiti M, Izquierdo A, Ropelato MG, Rey RA. Correa Brito L, et al. Among authors: scaglia p. J Pers Med. 2023 Jul 19;13(7):1158. doi: 10.3390/jpm13071158. J Pers Med. 2023. PMID: 37511771 Free PMC article.

2

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.

3

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

4

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

5

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

6

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

7

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

8

Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies.

Martucci LC, Gutiérrez ML, Karabatas LM, Scaglia PA, Rey RA, Domené HM, Jasper HG, Domené S. Martucci LC, et al. Mol Cell Endocrinol. 2016 Jul 5;429:19-28. doi: 10.1016/j.mce.2016.03.031. Epub 2016 Mar 25. Mol Cell Endocrinol. 2016. PMID: 27018247

9

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

10

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

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