R. Marino

R. Marino, M. Gallego, M. G. D. de Dávila, 2015, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome

A. Belgorosky, R. Marino, A. Moresco, 2022, Frontiers in Endocrinology.

Ehlers-Danlos syndrome: molecular and clinical characterization of TNXA/TNXB chimeras in congenital adrenal hyperplasia.

A. Belgorosky, R. Marino, A. Moresco, 2021, The Journal of clinical endocrinology and metabolism.

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.

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene

R. Lovell-Badge, A. Rajkovic, K. McElreavey, 2020, Proceedings of the National Academy of Sciences.

Genetic, Genomic and Biophysical Case Study: Familial 46, XY Sex Reversal due to a Novel Inherited Mutation in Human Testis-Determining Factor SRY

M. Weiss, A. Belgorosky, Deepak Chatterjee, 2021, bioRxiv.

Estrogens in Human Male Gonadotropin Secretion and Testicular Physiology From Infancy to Late Puberty

A. Belgorosky, M. Rivarola, E. Berensztein, 2020, Frontiers in Endocrinology.

Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort

A. Belgorosky, M. Rivarola, E. Berensztein, 2018, Journal of clinical research in pediatric endocrinology.

Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in the NR5A1/SF-1 Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected Kindred

A. Belgorosky, M. Rivarola, E. Berensztein, 2012, Hormone Research in Paediatrics.

Three New SF-1 (NR5A1) Gene Mutations in Two Unrelated Families with Multiple Affected Members: Within-Family Variability in 46,XY Subjects and Low Ovarian Reserve in Fertile 46,XX Subjects

A. Belgorosky, M. Rivarola, E. Berensztein, 2010, Hormone Research in Paediatrics.

[Novel heterozygous mutation in the steroidogenic acute regulatory protein gene in a 46,XY patient with congenital lipoid adrenal hyperplasia].

A. Belgorosky, M. Rivarola, E. Berensztein, 2013, Medicina.

Dose dependency of the serum bio/immuno GH ratio in children during pharmacological secretion tests

M. Tauber, A. Belgorosky, M. Rivarola, 2006, Journal of endocrinological investigation.

The serum growth hormone (GH) response to provocative tests is dependent on type of assay in autosomal dominant isolated GH deficiency because of an ARG(183)HIS (R183H) GH-I gene mutation.

A. Belgorosky, M. Rivarola, E. Berensztein, 2003, Clinical chemistry.

Molecular analysis of the CYP21A2 gene in dried blood spot samples.

A. Belgorosky, R. Marino, P. Ramirez, 2020, Medicina.

The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues

A. Belgorosky, M. Rivarola, C. Flück, 2007, Clinical endocrinology.

An Intron 9 CYP19 Gene Variant (IVS9+5G>A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues

A. Belgorosky, M. Rivarola, N. Saraco, 2015, Hormone Research in Paediatrics.

Mutation of HSD3B2 Gene and Fate of Dehydroepiandrosterone.

A. Belgorosky, M. Rivarola, M. Baquedano, 2018, Vitamins and hormones.

[Osteopetrosis: description of 2 cases, non-familial, of the fatal infantile form and of a case of the mild adult form. Impossibility of performing early prenatal diagnosis].

R. Marino, C. Borrone, G. Ferraiolo, 1989, Pathologica.

Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) in adult males: Clinical presentation, hormone function and the detection of adrenal and testicular adrenal rest tumors (TARTs).

R. Marino, G. Mendeluk, E. Pardes, 2021, Endocrinologia, diabetes y nutricion.

R. Marino, G. Mendeluk, E. Pardes, 2020, Endocrinologia, diabetes y nutricion.

A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. new insight into the structure-function relationships of 3β-hydroxysteroid dehidrogenase type II.

A. Turjanski, A. Belgorosky, M. Rivarola, 2015, The Journal of clinical endocrinology and metabolism.

Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment

A. Belgorosky, M. Rivarola, E. Berensztein, 2015, Clinical endocrinology.

NEW GUIDELINES FOR DIAGNOSIS AND TREATMENT OF CAH

A. Belgorosky, M. Rivarola, R. Marino, 2006 .

Growth hormone receptor gene polymorphism. Spontaneous catch up growth in small for gestational age patients.

A. Belgorosky, R. Marino, G. Guercio, 2021, Medicina.

Molecular and functional study of pediatric patients with Niemann-Pick C in Argentina.

E. Berensztein, R. Marino, Federico Mirarchi, 2022, Medicina.

Accelerated Pubertal Tempo in a 46,XY Aromatase-Deficient Patient

A. Belgorosky, N. Saraco, R. Marino, 2018, Hormone Research in Paediatrics.

Five new cases of 46,XX aromatase deficiency: clinical follow-up from birth to puberty, a novel mutation, and a founder effect.

A. Belgorosky, M. Rivarola, N. Saraco, 2015, The Journal of clinical endocrinology and metabolism.

Presence of GH1 and absence of GHRHR gene mutations in a large cohort of Argentinian patients with severe short stature and isolated GH deficiency

A. Belgorosky, M. Rivarola, R. Marino, 2014, Clinical endocrinology.

A Surgical and Clinical Approach to Persistent Müllerian Duct Syndrome: Laparoscopic, Histological, and Molecular Findings

A. Belgorosky, E. Berensztein, R. Marino, 2023, Sexual Development.

Hereditary hypophosphatemic rickets and craniosynostosis

R. Marino, M. del Pino, V. Fano, 2021, Journal of pediatric endocrinology & metabolism : JPEM.

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.

Molecular analysis of the 21‐hydroxylase gene

A. Belgorosky, M. Rivarola, R. Marino, 2003, Clinical endocrinology.