Folyóiratcikkek tallózása szerző szerint "Sólyom, János"

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ENDOPED ógörögül: EN∆OΠAI∆

Sólyom, János (2012)
Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.

Votava F; Török, Dóra; Kovacs J; Moslinger D; Baumgartner-Parzer SM; Sólyom, János; Pribilincova Z; Battelino T; Lebl J; Frisch H; Waldhauser F; Middle European Society for Paediatric Endocrinology – Congenital Adrenal Hyperplasia (MESPE-CAH) Study Group (2005)

OBJECTIVE: Newborn screening based on measurement of 17alpha-hydroxyprogesterone (17-OHP) in a dried blood spot on filter paper is an effective tool for early diagnosis of congenital adrenal hyperplasia (CAH) due to ...
High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency

Halász, Zita; Tőke, Judit; Patócs, Attila Balázs; Bertalan R; Tombol Z; Sallai, Ágnes; Hosszú, Éva; Muzsnai, Ágota; Kovacs L; Sólyom, János; Fekete, György; Rácz, Károly (2006)

Combined pituitary hormone deficiency is characterized by the impaired production of pituitary hormones, commonly including growth hormone. The pathomechanism of the childhood-onset form of this disorder may involve germline ...
Hyperthyroidism caused by germline activating mutation of the thyrotropin receptor gene: difficulties in diagnosis and therapy

Bertalan R; Sallai, Ágnes; Sólyom, János; Lotz, Gábor; Szabó, István; Kovács, Balázs; Szabó É; Patócs, Attila Balázs; Rácz, Károly (2010)

Background: Germline activating mutations of the thyrotropin receptor (TSHR) gene have been considered as the only known cause of sporadic nonautoimmune hyperthyroidism in the pediatric population. Here we describe the ...
Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia

Dolzan V; Sólyom, János; Fekete, György; Kovacs J; Rakosnikova V; Votava F; Lebl J; Pribilincova Z; Baumgartner-Parzer SM; Riedl S; Waldhauser F; Frisch H; Stopar-Obreza M; Krzisnik C; Battelino T (2005)

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

Luczay, Andrea; Török, Dóra; Ferenczi A; Majnik Judit, Zsuzsanna; Sólyom, János; Fekete, György (2006)

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 ...
Prenatal diagnosis of steroid 21-hydroxylase deficiency by allele-specific amplification

Theodoropoulou M; Barta, Csaba; Szoke M; Guttman, András; Staub M; Niederland T; Sólyom, János; Fekete, György; Sasvári-Székely, Mária (2001)
Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia

Ferenczi, A; Garami, Miklós; Kiss, Eszter; Pék, M; Sasvári-Székely, Mária; Barta, Csaba; Sólyom, János; Fekete, György (1999)

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders, causing impaired secretion of cortisol and aldosterone from the adrenal cortex, with subsequent overproduction of adrenal androgens. ...
Stability of 17alpha-hydroxyprogesterone in dried blood spots after autoclaving and prolonged storage.

Török, Dóra; Muhl A; Votava F; Heinze G; Sólyom, János; Crone J; Stockler-Ipsiroglu S; Waldhauser F (2002)
Szteroid-21-hidroxiláz-deficientia, a congenitalis adrenalis hyperplasia leggyakoribb oka

Doleschall, Márton; Török, Dóra; Mészáros, Katalin; Luczay, Andrea; Halász, Zita; Németh, Krisztina; Szücs, Nikolette; Kiss, Róbert; Tőke, Judit; Sólyom, János; Fekete, György; Patócs, Attila Balázs; Igaz, Péter; Tóth, Miklós (2018)

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 ...
Twenty years experience in rapid identification of congenital adrenal hyperplasia in Hungary.

Török, Dóra; Eckhardt G; Sólyom, János (2003)

The aim of this study was to assess the effectivity of the identification of patients with congenital adrenal hyperplasia (CAH) in Hungary in the absence of systematic neonatal screening and to estimate the incidence. Dried ...
Y-chromosome markers in Turner syndrome: Screening of 130 patients

Sallai, Ágnes; Sólyom, János; Dobos, Matild; Szabo J; Halász, Zita; Sagodi L; Niederland T; Kozari A; Bertalan R; Ugocsai P; Fekete, György (2010)

BACKGROUND: The presence of Y-chromosome material in patients with Turner syndrome (TS) is a risk factor for the development of gonadoblastoma. Cytogenetic analysis detects Y-chromosome mosaicism in about 5% of Turner ...

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Folyóiratcikkek tallózása szerző szerint "Sólyom, János"

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