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Human Reproduction (Oxford, England)
|
March 18, 2025
Clinical presentation of congenital hypogonadotropic hypogonadism in males with delayed puberty according to genetic etiology: a systematic review and meta-analysis after reclassification of gene variants
Sebastián Castro, Franco G Brunello, Gabriela Sansó, et al.
Human Molecular Genetics
|
November 15, 2006
Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome
Rodolfo A Rey, Marcela Venara, Régis Coutant, et al.
Human Molecular Genetics
|
February 27, 2026
Updated compendium of genes and variants associated with congenital hypogonadotropic hypogonadism: systematic review, classification pipeline, and network analysis
Franco G Brunello, Sebastián Castro, Jonathan Zaiat, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 14, 2016
Most Cleaved Anti-Müllerian Hormone Binds Its Receptor in Human Follicular Fluid but Little Is Competent in Serum
Alice Pierre, Chrystèle Racine, Rodolfo A Rey, et al.
Clinical Endocrinology
|
June 5, 2016
46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy
Romina P Grinspon, Julián Nevado, María de Los Ángeles Mori Alvarez, et al.
General and Comparative Endocrinology
|
August 24, 2020
Expression of acid-labile subunit (ALS) in developing and adult zebrafish and its role in dorso-ventral patterning during development
Estefanía Landi, Liliana Karabatas, Paula Scaglia, et al.
Clinical Endocrinology
|
July 25, 2007
Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome
María Gabriela Bastida, Rodolfo A Rey, Ignacio Bergadá, et al.
International Journal of Molecular Sciences
|
January 28, 2026
46,XY DSD with Partial Gonadal Dysgenesis and Growth Failure in a Patient with 3q27.1 Microdeletion: Candidate Gene Curation After Exhaustive Literature Review
Lourdes Correa Brito, Sofía Suco, Bárbara Casali, et al.
Frontiers in Pediatrics
|
June 20, 2022
Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report
Sebastián Castro, Franco G Brunello, Gabriela Sansó, et al.
Frontiers in Genetics
|
March 26, 2024
Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome
Lourdes Correa Brito, Ana Keselman, Florencia Villegas, et al.
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of 11
Search research articles
Search
Showing results (81-90 of 109) with videos related to
Sort By:
Page
of 11
Human Reproduction (Oxford, England)
|
March 18, 2025
Clinical presentation of congenital hypogonadotropic hypogonadism in males with delayed puberty according to genetic etiology: a systematic review and meta-analysis after reclassification of gene variants
Sebastián Castro, Franco G Brunello, Gabriela Sansó, et al.
Human Molecular Genetics
|
November 15, 2006
Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome
Rodolfo A Rey, Marcela Venara, Régis Coutant, et al.
Human Molecular Genetics
|
February 27, 2026
Updated compendium of genes and variants associated with congenital hypogonadotropic hypogonadism: systematic review, classification pipeline, and network analysis
Franco G Brunello, Sebastián Castro, Jonathan Zaiat, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 14, 2016
Most Cleaved Anti-Müllerian Hormone Binds Its Receptor in Human Follicular Fluid but Little Is Competent in Serum
Alice Pierre, Chrystèle Racine, Rodolfo A Rey, et al.
Clinical Endocrinology
|
June 5, 2016
46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy
Romina P Grinspon, Julián Nevado, María de Los Ángeles Mori Alvarez, et al.
General and Comparative Endocrinology
|
August 24, 2020
Expression of acid-labile subunit (ALS) in developing and adult zebrafish and its role in dorso-ventral patterning during development
Estefanía Landi, Liliana Karabatas, Paula Scaglia, et al.
Clinical Endocrinology
|
July 25, 2007
Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome
María Gabriela Bastida, Rodolfo A Rey, Ignacio Bergadá, et al.
International Journal of Molecular Sciences
|
January 28, 2026
46,XY DSD with Partial Gonadal Dysgenesis and Growth Failure in a Patient with 3q27.1 Microdeletion: Candidate Gene Curation After Exhaustive Literature Review
Lourdes Correa Brito, Sofía Suco, Bárbara Casali, et al.
Frontiers in Pediatrics
|
June 20, 2022
Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report
Sebastián Castro, Franco G Brunello, Gabriela Sansó, et al.
Frontiers in Genetics
|
March 26, 2024
Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome
Lourdes Correa Brito, Ana Keselman, Florencia Villegas, et al.
Page
of 11