Výsledky vyhledávání - "János Sólyom"

Szteroid-21-hidroxiláz-deficientia, a congenitalis adrenalis hyperplasia leggyakoribb oka

Autor: Peter Igaz, Krisztina Németh, Andrea Luczay, Nikolette Szücs, Zita Halász, Katalin Mészáros, György Fekete, Róbert Gábor Kiss, János Sólyom, Judit Tőke, Márton Doleschall, Dóra Török, Attila Patócs, Miklós Tóth

Publikováno v: Orvosi Hetilap. 159:269-277

Abstract: Congenital adrenal hyperplasia is a group of genetic diseases due to the disablement of 7 genes; one of them is steroid 21-hydroxylase deficiency. The genes of congenital adrenal hyperplasia encode enzymes taking part in the steroidogenesis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9e33b02112b8cc74d59d3968801dda5f
https://doi.org/10.1556/650.2018.30986

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Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

Autor: Caroline Eozenou, David Rodriguez-Buritica, Zita Halász, Jean-Pierre Siffroi, Joelle Bignon-Topalovic, Anne Jorgensen, Sophie Lambert, Rajpert-De Meyts E, János Sólyom, Anu Bashamboo, Ken McElreavey, Paye-Jaouen A, Rita Bertalan, Attila Tar, Capucine Hyon, John C. Achermann, Peter Nagy, Laetitia Martinerie

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (3), pp.487-493. ⟨10.1016/j.ajhg.2018.01.021⟩
American Journal of Human Genetics, 2018, 102 (3), pp.487-493. ⟨10.1016/j.ajhg.2018.01.021⟩

International audience; Emerging evidence from murine studies suggests that mammalian sex determination is the outcome of an imbalance between mutually antagonistic male and female regulatory networks that canalize development down one pathway while

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e91d6a53f3d8867c6d02692f0689a27
https://hal-pasteur.archives-ouvertes.fr/pasteur-02872425

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[Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia]

Autor: Márton, Doleschall, Dóra, Török, Katalin, Mészáros, Andrea, Luczay, Zita, Halász, Krisztina, Németh, Nikolette, Szücs, Róbert, Kiss, Judit, Tőke, János, Sólyom, György, Fekete, Attila, Patócs, Péter, Igaz, Miklós, Tóth

Publikováno v: Orvosi hetilap. 159(7)

Congenital adrenal hyperplasia is a group of genetic diseases due to the disablement of 7 genes; one of them is steroid 21-hydroxylase deficiency. The genes of congenital adrenal hyperplasia encode enzymes taking part in the steroidogenesis of adrena

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ab04c0c23a48e6485defff58c0845629
https://pubmed.ncbi.nlm.nih.gov/29429350

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Akademický článek

ENDOPED'30: Álom és megvalósulása. (Hungarian)

Autor: János, Sólyom

Publikováno v: Gyermekgyógyászat; 2023, Vol. 74 Issue 5, p255-256, 2p

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Blood-Spot 17-Hydroxyprogesterone Daily Profiles in Infants with Congenital Adrenal Hyperplasia

Autor: Éva Hosszú, G. Gács, János Sólyom

Publikováno v: Experimental and Clinical Endocrinology & Diabetes. 96:52-56

To define the optimum blood levels of 17-hydroxyprogesterone, the hormonal effects of glucocorticoid treatment were studied during the neonatal period and infancy in 20 patients with 21-hydroxylase deficiency. Repeated daily profiles of blood spot 17

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98b68979bca4f7d39abbad5794d19aef
https://doi.org/10.1055/s-0029-1210988

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Blood-Spot 17-Hydroxyprogesterone in Nonclassical 21-Hydroxylase Deficiency

Autor: János Sólyom

Publikováno v: Experimental and Clinical Endocrinology & Diabetes. 94:295-299

The value of blood-spot 17-hydroxyprogesterone (17-OHP) measurements in selective screening for non-classical 21-hydroxylase deficiency (NC 21-OHD) among female patients with postnatal virilization was studied. Early morning basal blood-spot and seru

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ff463391f17254fbc001f45f5b7a128
https://doi.org/10.1055/s-0029-1210912

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Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency

Autor: Andrea Luczay, Dóra Török, Judit Majnik, A. Ferenczi, János Sólyom, Gy Fekete

Publikováno v: European Journal of Endocrinology. 154:859-864

Objective: Congenital adrenal hyperplasia (CAH) shows a range of severity which is explained in part by the different mutations of the CYP21 gene. To better understand the incomplete concordance between genotype and phenotype in CAH the role of the s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63aa13a3e904583e981521885788e573
https://doi.org/10.1530/eje.1.02162

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Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia

Autor: M Stopar-Obreza, Jan Lebl, Sabina Baumgartner-Parzer, Stefan Riedl, Felix Votava, išnik, V Dolž, Tadej Battelino, Herwig Frisch, János Sólyom, József Kovács, C Krž, V. Rakosnikova, F. Waldhauser, Gy Fekete, Z. Pribilincova

Publikováno v: European Journal of Endocrinology. 153:99-106

Objective: To analyze the mutational spectrum of steroid 21-hydroxylase (CYP21) and the genotype– phenotype correlation in patients with congenital adrenal hyperplasia (CAH) registered in the Middle European Society for Pediatric Endocrinology CAH

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de2634274c2df2426a60982ad5abefe1
https://doi.org/10.1530/eje.1.01944

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Lessons From 30 Years of Clinical Diagnosis and Treatment of Congenital Adrenal Hyperplasia in Five Middle European Countries1

Autor: Tadej Battelino, József Kovács, János Sólyom, Jan Lebl, F. Waldhauser, Z. Pribilincova, Georg Heinze, Herwig Frisch, Felix Votava

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 86:2958-2964

Despite the fact that congenital adrenal hyperplasia (CAH) is one of the most common inborn endocrine disorders, some patients are not identified, or may even die, in an acute salt-losing crisis. In a retrospective study covering the last 30 yr, we e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d863c4a491036ab8181db0fda3794984
https://doi.org/10.1210/jcem.86.7.7638

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Growth Patterns and Final Height in Congenital Adrenal Hyperplasia due to Classical 21-Hydroxylase Deficiency

Autor: Jan Lebl, F. Waldhauser, Herwig Frisch, János Sólyom, Gábor Hargitai, József Kovács, Roland Hauspie, Zuzanna Pribilincová, Tadej Battelino

Publikováno v: Hormone Research in Paediatrics. 55:161-171

Background: Longitudinal growth and bone age (BA) development are the most important clinical parameters for monitoring adequate glucocorticoid replacement in children with congenital adrenal hyperplasia (CAH). Aim of the Study: To analyze the growth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1d15426eebad4938c88bff43aa9b8f37
https://doi.org/10.1159/000049990

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