P. Ramirez

发表

Unique dominant negative mutation in the N-terminal mitochondrial targeting sequence of StAR, causing a variant form of congenital lipoid adrenal hyperplasia.

A. Belgorosky, M. Rivarola, E. Berensztein, 2013, The Journal of clinical endocrinology and metabolism.

Steroid 21‐hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype–phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia

I. Bergadá, A. Belgorosky, M. Rivarola, 2011, Clinical endocrinology.

Two novel heterozygous missense variations within the GLI2 gene in two unrelated Argentine patients.

A. Belgorosky, M. Rivarola, R. Marino, 2016, Medicina.

Androgen Insensitivity Syndrome at Prepuberty: Marked Loss of Spermatogonial Cells at Early Childhood and Presence of Gonocytes up to Puberty

A. Belgorosky, M. Rivarola, E. Berensztein, 2018, Sexual Development.

Growth in height and body proportion from birth to adulthood in hereditary hypophosphatemic rickets: a retrospective cohort study

A. Belgorosky, R. Marino, P. Ramirez, 2022, Journal of Endocrinological Investigation.

The Low-Dose ACTH test: Usefulness of Combined Analysis of Serum and Salivary Maximum Cortisol Response in Paediatrics.

A. Belgorosky, M. Costanzo, E. Vaiani, 2019, The Journal of clinical endocrinology and metabolism.

Unexpected Peripheral Markers of Thyroid Function in a Patient with a Novel Mutation of the MCT8 Thyroid Hormone Transporter Gene

A. Belgorosky, M. Rivarola, R. Marino, 2006, Hormone Research in Paediatrics.

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.

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

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