Výsledky vyhledávání - "M, Gryngarten"

[Molecular analysis of the most frequent mutations associated with congenital adrenal hyperplasia secondary to 21-hydroxylase enzyme deficiency]

Autor: A, Dardis, R, Marino, I, Bergadá, M E, Escobar, M, Gryngarten, M A, Rivarola, A, Belgorosky

Publikováno v: Medicina. 61(1)

Most cases (90%) of congenital adrenal hyperplasia (CAH) are secondary to steroid 21-hydroxylase enzyme deficiency (P450c21). In human, the P450c21 gene (CYP21B) is present along with a non functional pseudogene (CYP21A). These genes, located in chro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e050e81ec5bf54c4f32112e932e094df
https://pubmed.ncbi.nlm.nih.gov/11265620

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Characterization of serum SHBG isoforms in prepubertal and pubertal girls

Autor: P, Bedecarrás, M, Gryngarten, S, Ayuso, M E, Escobar, C, Bergadá, S, Campo

Publikováno v: Clinical endocrinology. 49(5)

SHBG is a circulating glycoprotein that binds dihydrotestosterone, testosterone and oestradiol with high affinity and low capacity. In girls, serum concentrations of SHBG gradually decrease with age due to a true fall in concentration and not to a ch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::66248cbb10342b41946948e6742dc43c
https://pubmed.ncbi.nlm.nih.gov/10197075

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Persistence of autonomous ovarian activity after discontinuation of therapy for precocious puberty in McCune-Albright syndrome

Autor: G. Ropelato, M.R. López, César Bergadá, M E Escobar, M. Gryngarten, Horacio M. Domené

Publikováno v: Journal of pediatric and adolescent gynecology. 10(3)

Objective The aim of this study was to evaluate the possibility of persistence of autonomous ovarian activity in girls with McCune-Albright syndrome (MAS) after withdrawal of medroxyprogesterone therapy administered for precocious puberty. Design, Se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b904ee60258245181f6827fad737598
https://pubmed.ncbi.nlm.nih.gov/9288659

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Mutations of the KISS1 Gene Associated with Central Precocious Puberty

Autor: Letícia F. G. Silveira, Manuel Escobar, Wendy Kuohung, Ana Claudia Latronico, Berenice B. Mendonca, M. Gryngarten, A. P. Silveira-Neto, Shuyun Xu, Ana Paula Abreu, M. Ag. Santos, I. J. P. Arnhold, Vinicius Nahime Brito, Suzy D.C. Bianco, Sekoni D. Noel, Ursula B. Kaiser

Publikováno v: Endocrine Reviews. 31:255-255

Context: Kisspeptin, encoded by the KISS1 gene, is a key stimulatory factor of GnRH secretion and puberty onset. Inactivating mutations of its receptor (KISS1R) cause isolated hypogonadotropic hypogonadism (IHH). A unique KISS1R activating mutation w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::44b18310cec485f540b39dd7a1ca631f
https://doi.org/10.1210/edrv.31.2.9980

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Allele-Specific Amplification (AS-PCR) for Point Mutation Screening of G Protein α-Subunit (Gsα) in McCune-Albright Syndrome (MAS)

Autor: Horacio M. Domené, M E Escobar, G Sanso, M Gryngarten

Publikováno v: Pediatric Research. 45:441-441

Allele-Specific Amplification (AS-PCR) for Point Mutation Screening of G Protein α-Subunit (Gsα) in McCune-Albright Syndrome (MAS)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3c5a43f48b628a88e1b328c7f3e847fb
https://doi.org/10.1203/00006450-199903000-00047

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