Lista de obras - Héctor G. Jasper - Dominio Público Uruguay

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

scientific article published on 14 March 2012

A study on strategies for improving growth and body composition after renal transplantation.

artículo científico publicado en 2010

Acid-labile subunit (ALS) deficiency.

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Comparative study of IGFBP properties in toad and rat sera

artículo científico publicado en 1993

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

artículo científico publicado en 2004

Effects of deflazacort immunosuppression on long-term growth and growth factors after renal transplantation

artículo científico publicado en 1997

Effects of deflazacort vs. methylprednisone: a randomized study in kidney transplant patients

artículo científico publicado en 2007

Estrogen priming effect on growth hormone (GH) provocative test: a useful tool for the diagnosis of GH deficiency

scientific article published on 01 November 2000

Growth hormone insensitivity associated with a STAT5b mutation

artículo científico publicado en 2003

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

artículo científico publicado en 2013

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

scientific article published on September 2009

Identification of the first patient with a confirmed mutation of the JAK-STAT system.

artículo científico publicado en 2005

Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.

artículo científico publicado en 2010

Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability

artículo científico publicado en 2016

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

artículo científico publicado en 2007

Past, Present, and Future in the Relationship between Growth Retardation and the IGF System: Excerpts from the Cesar Bergada Lecture Given during the SLEP 2015 Annual Meeting.

artículo científico publicado en 2016

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

scientific article published on 28 August 2007

Relationship between non-enzymatic glycosylation and changes in serum insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 levels in patients with type 2 diabetes mellitus

artículo científico publicado en 1998

STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability

artículo científico publicado en 2015

Serum sex hormone-binding globulin and serum nonsex hormone-binding globulin-bound testosterone fractions in prepubertal boys with chronic renal failure.

artículo científico publicado en 1991

Somatomedin response to testosterone stimulation in children with male pseudohermaphroditism, cryptorchidism, anorchia, or micropenis

artículo científico publicado en 1985

The effects of growth hormone on DNA polymerase activity in the liver of normal and hypophysectomized rats

artículo científico publicado en 1973

Trisomy of the short stature homeobox-containing gene (SHOX) due to duplication/deletion of the X chomosome: clinical implications on the stature

artículo científico publicado en 2010

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

artículo científico publicado en 2012

Unbound (bioavailable) IGF1 enhances somatic growth.

artículo científico publicado en 2011

Lista de obras de Héctor G. Jasper

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

A study on strategies for improving growth and body composition after renal transplantation.

Acid-labile subunit (ALS) deficiency.

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

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

Comparative study of IGFBP properties in toad and rat sera

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

Effects of deflazacort immunosuppression on long-term growth and growth factors after renal transplantation

Effects of deflazacort vs. methylprednisone: a randomized study in kidney transplant patients

Estrogen priming effect on growth hormone (GH) provocative test: a useful tool for the diagnosis of GH deficiency

Growth hormone insensitivity associated with a STAT5b mutation

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

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

Identification of the first patient with a confirmed mutation of the JAK-STAT system.

Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.

Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability

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

Past, Present, and Future in the Relationship between Growth Retardation and the IGF System: Excerpts from the Cesar Bergada Lecture Given during the SLEP 2015 Annual Meeting.

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

Relationship between non-enzymatic glycosylation and changes in serum insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 levels in patients with type 2 diabetes mellitus

STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability

Serum sex hormone-binding globulin and serum nonsex hormone-binding globulin-bound testosterone fractions in prepubertal boys with chronic renal failure.

Somatomedin response to testosterone stimulation in children with male pseudohermaphroditism, cryptorchidism, anorchia, or micropenis

The effects of growth hormone on DNA polymerase activity in the liver of normal and hypophysectomized rats

Trisomy of the short stature homeobox-containing gene (SHOX) due to duplication/deletion of the X chomosome: clinical implications on the stature

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

Unbound (bioavailable) IGF1 enhances somatic growth.