tallózása szerző szerint "Török, Dóra"

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A kromatinszerkezet vizsgálata

Török, Dóra (2015)
A SHOX géndeletio előfordulása idiopathiás alacsonynövésben

David A; Butz, Henriett; Halász, Zita; Török, Dóra; Nyírő, Gábor; Muzsnai A; Csakvary V; Luczay, Andrea; Sallai, Ágnes; Hosszú, Éva; Felszeghy E; Tar A; Szanto Z; Fekete GL; Kun I; Patocs, Attila; Bertalan R (2017)

INTRODUCTION: The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation of the gene can be detected in 2-15% of patients ...
Association of Lean and Fat Body Mass, Bone Biomarkers and Gonadal Steroids with Bone Mass during Pre- and Midpuberty

Csákváry, Violetta; Erhardt, Éva; Vargha P; Oroszlan G; Bödecs, Tamás; Török, Dóra; Salamonné Toldy, Erzsébet; Kovács L., Gábor (2012)

Background/Aims: The association of bone mass with body composition, bone turnover markers and gonadal steroids was examined in Hungarian children during pre- and midpuberty. Methods: Two hundred and thirty-seven 7- ...
Elsődleges genetikai vizsgálat Prader–Willi-szindróma igazolására

Ács, Orsolya Dóra; Péterfia, Bálint; Hollósi, Péter; Haltrich, Irén; Sallai, Ágnes; Luczay, Andrea; Buiting K; Horsthemke B; Török, Dóra; Szabó, András; Fekete, György (2018)

INTRODUCTION: According to the international literature, DNA methylation analysis of the promoter region of SNRPN locus is the most efficient way to start genetic investigation in patients with suspected Prader-Willi ...
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 ...
Methylation Status of CYP27B1 and IGF2 Correlate to BMI SDS in Children with Obesity

Ács, Orsolya Dóra; Péterfia, Bálint; Hollósi, Péter; Luczay, Andrea; Török, Dóra; Szabó, András (2017)

OBJECTIVE: Worldwide increasing childhood obesity is due to interactions between environmental and genetic factors, linked together by epigenetic mechanisms such as DNA methylation. METHODS: 82 obese children (>95th BMI ...
“Out, out, brief candle! Life’s but a walking shadow”: 5-HTTLPR Is Associated With Current Suicidal Ideation but Not With Previous Suicide Attempts and Interacts With Recent Relationship Problems

Bokor, János; Krause, Sandor; Török, Dóra; Eszlári, Nóra; Sütöri, Sára; Gál, Zsófia; Petschner, Péter; Anderson, Ian M; Deakin, Bill; Bagdy, György; Juhász, Gabriella; Gonda, Xénia (2020)

Suicide is an unresolved psychiatric and public health emergency, claiming 800,000 lives each year, however, its neurobiological etiology is still not understood. In spite of original reports concerning the involvement of ...
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 ...
Six Cases of Rare Gene Amplifications and Multiple Copy of Fusion Gene in Childhood Acute Lymphoblastic Leukemia.

Haltrich, Irén; Csóka, Monika; Kovács, Gábor; Török, Dóra; Alpár, Donát; Ottóffy, Gábor; Fekete, György (2013)

Cytogenetic aberrations are very important factors in risk assessment of childhood hematological malignancies. We report six childhood acute lymphoid leukemia (ALL) cases with rare cytogenetic aberrations: five with ...
Some GCR Polymorphisms (N363S, ER22/23EK, and Bcl-1) May Influence Steroid-induced Toxicities and Survival Rates in Children With ALL.

Eipel, Olivér; Hegyi, Márta; Csordas, Katalin; Németh, Krisztina; Luczay, Andrea; Török, Dóra; Csóka, Monika; Erdélyi, Dániel; Kovács, Gábor (2016)

We investigated whether an altered individual glucocorticoid sensitivity due to particular glucocorticoid receptor single-nucleotide polymorphisms (SNPs) (N363S, ER22/23EK, and Bcl-1) influences the susceptibility to ...
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)
Szervtranszplantáció meningococcus meningitis következtében agyhalottá vált donorból

Garan, Diana; Török, Dóra; Kovács, Veronika (2013)
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 ...
The glucocorticoid receptor gene polymorphism N363S predisposes to more severe toxic side effects during pediatric acute lymphoblastic leukemia (ALL) therapy.

Eipel, Olivér; Németh, Krisztina; Török, Dóra; Csordas, Katalin; Hegyi, Márta; Ponyi, Andrea; Ferenczy, A; Erdélyi, Dániel; Csóka, Monika; Kovács, Gábor (2013)

The survival rates in childhood acute lymphoid leukemia (ALL) have improved dramatically; however, patients still suffer from a variety of drug-related toxicities. Individualized therapy regimens promise the least toxic ...
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 ...

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