D. Braslavsky

发表

[Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis].

R. Rey, I. Bergadá, M. Szlago, 2020, Archivos argentinos de pediatria.

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.

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.

High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic

A. Dauber, I. Bergadá, U. Kaiser, 2016, Neuroendocrinology.

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

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

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.

Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction

L. Metherell, T. Güran, D. Braslavsky, 2018, The Journal of Steroid Biochemistry and Molecular Biology.

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.

Spreading the Clinical Window for Diagnosing Fetal-Onset Hypogonadism in Boys

R. Rey, P. Bedecarrás, S. Gottlieb, 2014, Front. Endocrinol..

Sertoli cell markers in the diagnosis of paediatric male hypogonadism

R. Rey, P. Bedecarrás, S. Gottlieb, 2012, Journal of pediatric endocrinology & metabolism : JPEM.

The morphological changes in acute renal failure due to rhamdomyolysis following viral infection.

A. Chagnac, D. Zevin, D. Braslavsky, 1982, Nephron.

Spontaneous Ovarian Hyperstimulation Syndrome Caused by a Follicle-Stimulating Hormone-Secreting Pituitary Macroadenoma in an Early Pubertal Girl

M. Ropelato, M. Escobar, M. Ballerini, 2010, Hormone Research in Paediatrics.

Mutations in the PCNA-binding domain of CDKN1C cause IMAGE Syndrome

S. Nelson, J. Martinez-Agosto, E. Vilain, 2012, Nature Genetics.

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

L. Metherell, L. Guasti, H. Storr, 2017, The Journal of clinical investigation.

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.

A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review

L. Metherell, H. Storr, S. Çetinkaya, 2022, Endocrine connections.

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.

Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.

R. Gibbs, James T. Lu, Brendan H. Lee, 2014, The Journal of clinical endocrinology and metabolism.

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.

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.

Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue

A. Barlier, I. Bergadá, T. Brue, 2015, PloS one.

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. (3),

L. Metherell, L. Guasti, H. Storr, 2017 .

SGPL 1 mutations cause primary adrenal insufficiency and steroid resistant nephrotic syndrome 1

L. Metherell, L. Guasti, H. Storr, 2016 .

International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood

V. Mericq, A. Dauber, M. Yau, 2023, Endocrine reviews.

A Pilot Randomized Controlled Trial

C. Stratakis, N. Pankratz, I. Bergadá, 2020 .

Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction

D. Braslavsky, T. Guran, R. Prasad, 2020, The Journal of Steroid Biochemistry and Molecular Biology.

Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients.

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