Search Results - "SOLYOM, Janos"

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children by Bashamboo, Anu, Eozenou, Caroline, Jorgensen, Anne, Bignon-Topalovic, Joelle, Siffroi, Jean-Pierre, Hyon, Capucine, Tar, Attila, Nagy, Péter, Sólyom, Janos, Halász, Zita, Paye-Jaouen, Annnabel, Lambert, Sophie, Rodriguez-Buritica, David, Bertalan, Rita, Martinerie, Laetitia, Rajpert-De Meyts, Ewa, Achermann, John C., McElreavey, Ken

“…Emerging evidence from murine studies suggests that mammalian sex determination is the outcome of an imbalance between mutually antagonistic male and female…”
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Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia by Votava, Felix, Török, Dóra, Kovács, József, Möslinger, Dorothea, Baumgartner-Parzer, Sabina M, Sólyom, János, Pribilincová, Zuzana, Battelino, Tadej, Lebl, Jan, Frisch, Herwig, Waldhauser, Franz

“…Objective: Newborn screening based on measurement of 17α-hydroxyprogesterone (17-OHP) in a dried blood spot on filter paper is an effective tool for early…”
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Hyperthyroidism caused by a germline activating mutation of the thyrotropin receptor gene: difficulties in diagnosis and therapy by Bertalan, Rita, Sallai, Agnes, Sólyom, János, Lotz, Gábor, Szabó, István, Kovács, Balázs, Szabó, Eva, Patócs, Attila, Rácz, Károly

“…Germline activating mutations of the thyrotropin receptor (TSHR) gene have been considered as the only known cause of sporadic nonautoimmune hyperthyroidism in…”
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High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency by Halász, Zita, Toke, Judit, Patócs, Attila, Bertalan, Rita, Tömböl, Zsófia, Sallai, Agnes, Hosszú, Eva, Muzsnai, Agota, Kovács, László, Sólyom, János, Fekete, György, Rácz, Károly

“…Combined pituitary hormone deficiency is characterized by the impaired production of pituitary hormones, commonly including growth hormone. The pathomechanism…”
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Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five Middle European countries by KOVACS, Jozsef, VOTAVA, Felix, HEINZE, Georg, SOLYOM, Janos, LEBL, Jan, PRIBILINCOVA, Zuzana, FRISCH, Herwig, BATTELINO, Tadej, WALDHAUSER, Franz

“…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…”
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Stability of 17α-hydroxyprogesterone in dried blood spots after autoclaving and prolonged storage by TÖRÖK, Dora, MÜHL, Adolf, VOTAVA, Felix, HEINZE, Georg, SOLYOM, Janos, CRONE, Julia, STÖCKLER-IPSIROGLU, Sylvia, WALDHAUSER, Franz

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Twenty years experience in rapid identification of congenital adrenal hyperplasia in Hungary by TÖRÖK, Dora, ECKHARDT, Gudrun, SOLYOM, Janos

“…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…”
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Implant-Related Complications and Mortality After Use of Short or Long Gamma Nail for Intertrochanteric and Subtrochanteric Fractures: A Prospective Study with Minimum 13-Year Follow-up by Horner, Nolan S., Samuelsson, Kristian, Solyom, Janos, Bjørgul, Kristian, Ayeni, Olufemi R., Östman, Bengt

“…The purpose of this study was to evaluate the rates of implant-related complications and mortality after treatment of an intertrochanteric or subtrochanteric…”
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Prenatal diagnosis of steroid 21-hydroxylase deficiency by allele-specific amplification by Theodoropoulou, M, Barta, C, Szoke, M, Guttman, A, Staub, M, Niederland, T, Sólyom, J, Fekete, G, Sasvari-Szekely, M

“…Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency (21-OHD) is the most common cause of ambiguous genitalia in females at birth. Here, we…”
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Implant-Related Complications and Mortality After Use of Short or Long Gamma Nail for Intertrochanteric and Subtrochanteric Fractures by Nolan S. Horner, MD, Kristian Samuelsson, MD, PHD, MSc, Janos Solyom, MD, Kristian Bjørgul, MD, PhD, Olufemi R. Ayeni, MD, MSc, FRCSC, Bengt Östman, MD, PhD

“…Background:. The purpose of this study was to evaluate the rates of implant-related complications and mortality after treatment of an intertrochanteric or…”
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Direct solid-phase time-resolved fluoroimmunoassay of 17 alpha-hydroxyprogesterone in serum and dried blood spots on filter paper by Gonzalez, R R, Mäentausta, O, Solyom, J, Vihko, R

“…We describe a direct, solid-phase time-resolved fluoroimmunoassay (TRFIA) for measuring 17 alpha-hydroxyprogesterone (17OHP) in serum and blood spots on filter…”
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Piano Sonatas Op.13 'Pathétique' and Op.57 'Appassionata' by Anderson, Robert

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Identification of congenital adrenal hyperplasia by measurement of blood-spot 17-hydroxyprogesterone by Sólyom, János, Eckhardt, Gudrun, Török, Dóra

“…Identification of congenital adrenal hyperplasia by measurement of blood-spot 17-hydroxyprogesterone. 21-hydroxylase deficiency (21-OHD) is the most common…”
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Growth patterns and final height in congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency. Results of a multicenter study by Hargitai, G, Sólyom, J, Battelino, T, Lebl, J, Pribilincová, Z, Hauspie, R, Kovács, J, Waldhauser, F, Frisch, H

“…Longitudinal growth and bone age (BA) development are the most important clinical parameters for monitoring adequate glucocorticoid replacement in children…”
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Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia by FERENCZI, A, GARAMI, M, KISS, E, PEK, M, SASVARI-SZEKELY, M, BARTA, C, STAUB, M, SOLYOM, J, FEKETE, G

“…Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders, causing impaired secretion of cortisol and aldosterone from the adrenal…”
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Incomplete androgen insensitivity by Luczay, Andrea, Sólyom, János, Hiort, Olaf, Szabó, Eva, Dobos, Matild, Jenovári, Zoltán, Fekete, György

“…In the androgen insensitivity syndrome (AIS) the androgen effect is decreased in the fetus and the youth despite the adequate testosterone production. Usually…”
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Stability of 17alpha-hydroxyprogesterone in dried blood spots after autoclaving and prolonged storage by Török, Dóra, Mühl, Adolf, Votava, Felix, Heinze, Georg, Sólyom, János, Crone, Julia, Stöckler-Ipsiroglu, Sylvia, Waldhauser, Franz

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Lessons From 30 Years of Clinical Diagnosis and Treatment of Congenital Adrenal Hyperplasia in Five Middle European Countries1 by Kovács, József, Votava, Felix, Heinze, Georg, Sólyom, János, Lebl, Jan, Pribilincová, Zuzana, Frisch, Herwig, Battelino, Tadej, Waldhauser, Franz

“…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…”
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Lessons From 30 Years of Clinical Diagnosis and Treatment of Congenital Adrenal Hyperplasia in Five Middle European Countries 1 by Kovács, József, Votava, Felix, Heinze, Georg, Sólyom, János, Lebl, Jan, Pribilincová, Zuzana, Frisch, Herwig, Battelino, Tadej, Waldhauser, Franz

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Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia1 by Ferenczi, Anna, Garami, Miklós, Kiss, Eszter, Pék, Mónika, Sasvári-Székely, Mária, Barta, Csaba, Staub, Mária, Sólyom, János, Fekete, György

“…Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders, causing impaired secretion of cortisol and aldosterone from the adrenal…”
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