A. Keselman

发表

Height Velocity in Argentinean Girls with Turner's Syndrome

F. Tibaldi, R. Hauspie, A. Martínez, 2001, Journal of pediatric endocrinology & metabolism : JPEM.

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

L. Montenegro, B. Mendonca, I. Arnhold, 2007, Arquivos brasileiros de endocrinologia e metabologia.

Basal follicle-stimulating hormone and peak gonadotropin levels after gonadotropin-releasing hormone infusion show high diagnostic accuracy in boys with suspicion of hypogonadotropic hypogonadism.

R. Rey, S. Gottlieb, Alicia S. Martínez, 2010, The Journal of clinical endocrinology and metabolism.

Early onset of primary hypogonadism revealed by serum anti-Müllerian hormone determination during infancy and childhood in trisomy 21.

R. Rey, E. Codner, G. Iñiguez, 2011, International journal of andrology.

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

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

Growth of Argentinian girls with Turner syndrome.

J. Heinrich, C. Bergadá, A. Martínez, 1995, Annals of human biology.

Germinal heterozygous activating STAT3 mutations represent a novel monogenic defect

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

SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.

G. Binder, M. Ranke, V. Hesse, 2004, The Journal of clinical endocrinology and metabolism.

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.

Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys

A. Jorge, D. Bertola, R. M. Noronha, 2022, Hormone Research in Paediatrics.

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.

Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection

I. Bergadá, L. Gruñeiro-Papendieck, A. Chiesa, 2017, Hormone Research in Paediatrics.

Cognitive profiles of patients with early detected and treated congenital hypothyroidism.

I. Bergadá, M. Musso, A. Chiesa, 2017, Archivos argentinos de pediatria.

Quality of Life in Adults with Growth Hormone Deficiency Diagnosed During Childhood

J. Heinrich, Alicia S. Martínez, C. Bergadá, 2000 .

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.

Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders.

J. Kitzman, S. Camper, I. Bergadá, 2021, The Journal of clinical endocrinology and metabolism.

Abnormal Responses to TRH in Children Born Small for Gestational Age That Failed to Catch Up

J. Heinrich, A. Chiesa, S. Malozowski, 2009, 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.

Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism

Juan P. Bustamante, J. Kitzman, S. Camper, 2018, Molecular genetics & genomic medicine.

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.

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Michael H. Guo, J. Kitzman, Jun Z. Li, 2021, medRxiv.

Neonatal cholestasis in congenital pituitary hormone deficiency and isolated hypocortisolism: characterization of liver dysfunction and follow-up.

I. Bergadá, A. Chiesa, D. Braslavsky, 2011, Arquivos brasileiros de endocrinologia e metabologia.

Psychosocial Outcome in Growth Hormone Deficient Patients Diagnosed During Childhood

C. Bergadá, A. Martínez, A. Keselman, 2000, Journal of pediatric endocrinology & metabolism : JPEM.

Hypogonadotropic Hypogonadism in Infants with Congenital Hypopituitarism: A Challenge to Diagnose at an Early Stage

R. Rey, P. Bedecarrás, I. Bergadá, 2015, Hormone Research in Paediatrics.

Development and Validation of a Prediction Rule for Growth Hormone Deficiency Without Need for Pharmacological Stimulation Tests in Children With Risk Factors

R. Rey, I. Bergadá, G. Finkielstain, 2021, Frontiers in Endocrinology.

Growth Follow-up in 100 Children with Congenital Hypothyroidism Before and During Treatment

J. Heinrich, A. Chiesa, C. Bergadá, 1994, The Journal of pediatric endocrinology.

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.

Final Height in Long-term Primary Hypothyroid Children

J. Heinrich, A. Chiesa, C. Bergadá, 1998, Journal of pediatric endocrinology & metabolism : JPEM.

Contents Vol. 80, 2013

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

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.

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.

Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients.

I. Bergadá, M. Ballerini, D. Braslavsky, 2023, Reviews in endocrine & metabolic disorders.