H. Jasper

发表

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

J. Heinrich, Alicia S. Martínez, H. Domené, 2004, The New England journal of medicine.

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

A. Cortizo, N. Cédola, J. Gagliardino, 1998, Acta Diabetologica.

Serum IGF‐1 Is Insufficient to Restore Skeletal Size in the Total Absence of the Growth Hormone Receptor

O. Kennedy, S. Yakar, C. Rosen, 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

J. Frystyk, Jian-Wen Chen, J. Heinrich, 2007, Hormone Research in Paediatrics.

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

J. Heinrich, H. Domené, M. Ropelato, 2000, The Journal of clinical endocrinology and metabolism.

Insulin level and insulin sensitivity indices among healthy children and adolescents.

I. Bergadá, H. Domené, M. Ropelato, 2016, Archivos argentinos de pediatria.

Germinal heterozygous activating STAT3 mutations represent a novel monogenic defect

L. Bezrodnik, V. Hwa, S. Revale, 2017 .

Differential Impact of Simple Childhood Obesity on the Components of the Growth Hormone-Insulin-like Growth Factor (IGF)-IGF Binding Proteins Axis

J. Heinrich, H. Domené, M. Ropelato, 2004, Journal of pediatric endocrinology & metabolism : JPEM.

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

R. Rey, H. Domené, P. Scaglia, 2016, Molecular and Cellular Endocrinology.

Serum complexes of insulin‐like growth factor‐1 modulate skeletal integrity and carbohydrate metabolism

M. Bouxsein, O. Gavrilova, P. Cohen, 2009, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

A Homozygous Mutation in the Highly Conserved Tyr60 of the Mature IGF1 Peptide Broadens the Spectrum of IGF1 Deficiency.

P. Lapunzina, J. Nevado, R. Rey, 2019, European journal of endocrinology.

Unbound (bioavailable) IGF1 enhances somatic growth

Chengyu Liu, J. Frystyk, S. Yakar, 2011, Journal of Cell Science.

Unbound (bioavailable) IGF1 enhances somatic growth

Chengyu Liu, J. Frystyk, S. Yakar, 2011, Disease Models & Mechanisms.

Acid-labile subunit (ALS) deficiency.

V. Hwa, R. Rosenfeld, H. Domené, 2011, Best practice & research. Clinical endocrinology & metabolism.

Circulating IGF-I, IGFBP-3 and the IGF-I/IGFBP-3 Molar Ratio Concentration and Height Outcome in Prepubertal Short Children on rhGH Treatment over Two Years of Therapy

I. Bergadá, Alicia S. Martínez, H. Domené, 2017, Hormone Research in Paediatrics.

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

H. Domené, M. Ropelato, P. Scaglia, 2013, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Differences in anthropometric parameters and the IFG-I-IGFBP3 axis between liver and renal transplant children.

P. Pennisi, H. Jasper, T. Pasqualini, 2000, Transplantation.

Evaluation of disease activity by IGF-I and IGF binding protein-3 (IGFBP3) in acromegaly patients distributed according to a clinical score

P. Pennisi, H. Jasper, A. Mella, 1999, Journal of endocrinological investigation.

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

S. Kirmani, J. Frystyk, P. Bedecarrás, 2007, The Journal of clinical endocrinology and metabolism.

Acid-labile subunit deficiency: phenotypic similarities and differences between human and mouse.

H. Domené, S. Bengolea, H. Jasper, 2005, Journal of endocrinological investigation.

Effect of deflazacort versus methylprednisone on growth, body composition, lipid profile, and bone mass after renal transplantation

H. Domené, P. Pennisi, H. Jasper, 2000, Pediatric Nephrology.

Growth in Turner's syndrome: long term treatment with low dose ethinyl estradiol.

H. Domené, H. Jasper, A. Martínez, 1987, The Journal of clinical endocrinology and metabolism.

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

H. Jasper, 1985, The Journal of clinical endocrinology and metabolism.

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

B. Little, L. Bezrodnik, V. Hwa, 2005, Pediatric Nephrology.

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

P. Pennisi, H. Jasper, T. Pasqualini, 1997, Pediatric Nephrology.

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

R. Rey, I. Bergadá, A. Spinola-Castro, 2017, Clinical endocrinology.

Trisomy of the Short Stature Homeobox-Containing Gene (SHOX) due to Duplication/Deletion of the X Chomosome: Clinical Implications on the Stature

J. Heinrich, S. Bengolea, H. Jasper, 2010, Hormone Research in Paediatrics.

p.R209H GH1 variant challenges short stature assessment.

S. Camper, R. Rey, I. Bergadá, 2019, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Heterozygous IGFALS Gene Variants in Idiopathic Short Stature and Normal Children: Impact on Height and the IGF System

R. Rey, J. Heinrich, Alicia S. Martínez, 2013, Hormone Research in Paediatrics.

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

L. Pérez-Jurado, C. Conover, C. Oxvig, 2016, EMBO molecular medicine.

Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences

H. V. van Duyvenvoorde, J. Wit, V. Hwa, 2009, Hormone Research in Paediatrics.

Growth hormone insensitivity associated with a STAT5b mutation.

B. Little, L. Bezrodnik, V. Hwa, 2003, The New England journal of medicine.

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

A. Belgorosky, M. Rivarola, H. Jasper, 1991, The Journal of clinical endocrinology and metabolism.

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

H. Jasper, G. Alonso, P. Sorroche, 2007, Pediatric Nephrology.

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

H. Jasper, P. Coccia, G. Alonso, 2010, Pediatric Nephrology.

Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

L. Bezrodnik, V. Hwa, L. Denson, 2018, Molecular and Cellular Endocrinology.

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.

L. Bezrodnik, V. Hwa, P. Fang, 2012, The Journal of clinical endocrinology and metabolism.

Treatment of Hypopituitary Children with Synthetic Met-Growth Hormone (Somatrem): Two Years Experience

J. Heinrich, Alicia S. Martínez, C. Bergadá, 1991 .

Contents Vol. 80, 2013

P. Czernichow, G. Rappold, H. Wallaschofski, 2014, Hormone Research in Paediatrics.

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

H. Domené, P. Scaglia, H. Jasper, 2010, Pediatric endocrinology reviews : PER.

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

I. Bergadá, H. Domené, M. Ropelato, 2012, Arquivos brasileiros de endocrinologia e metabologia.

Body growth and lymphocyte DNA polymerase activity in patients with hypopituitarism.

C. Bergadá, H. Jasper, 1982, Medicina.

A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI).

R. Rey, I. Bergadá, H. Domené, 2019, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

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

H. Jasper, 2016, Hormone Research in Paediatrics.

Rat liver DNA synthesis during the "catch-up" growth of varied nutritional rehabilitation.

J. Brasel, H. Jasper, 1974, The Journal of nutrition.

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

J. Wit, V. Hwa, A. Belgorosky, 2015, European journal of endocrinology.

Acid-labile subunit (ALS) deficiency.

V. Hwa, R. Rosenfeld, H. Domené, 2011, Best practice & research. Clinical endocrinology & metabolism.

Serum complexes of insulin‐like growth factor‐1 modulate skeletal integrity and carbohydrate metabolism

M. Bouxsein, O. Gavrilova, P. Cohen, 2009, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.