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414 results on '"Lebl, J."'

1. The closed range property for the $\overline{\partial}$-operator on planar domains

Author

Gallagher, A. -K., Lebl, J., and Ramachandran, K.

Subjects
Mathematics - Complex Variables, Mathematics - Analysis of PDEs, 32W05, 31A15
Abstract

Let $\Omega\subset\mathbb{C}$ be an open set. We show that $\overline{\partial}$ has closed range in $L^{2}(\Omega)$ if and only if the Poincar\'e-Dirichlet inequality holds. Moreover, we give necessary and sufficient potential-theoretic conditions for the $\overline{\partial}$-operator to have closed range in $L^{2}(\Omega)$. We also give a new necessary and sufficient potential-theoretic condition for the Bergman space of $\Omega$ to be infinite dimensional., Comment: Part (iv) of Proposition 2.2 in the previous version was stated prematurely. To correct this, some changes in section 2 were necessary, see Prop. 2.9 and its corollaries in the current version

Published
2019
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2. Convexity of level lines of Martin functions and applications

Author

Gallagher, A. -K., Lebl, J., and Ramachandran, K.

Subjects
Mathematics - Analysis of PDEs, Mathematics - Complex Variables, 31B05, 30C20
Abstract

Let $\Omega$ be an unbounded domain in $\mathbb{R}\times\mathbb{R}^{d}.$ A positive harmonic function $u$ on $\Omega$ that vanishes on the boundary of $\Omega$ is called a Martin function. In this note, we show that, when $\Omega$ is convex, the superlevel sets of a Martin function are also convex. As a consequence we obtain that if in addition $\Omega$ is symmetric, then the maximum of any Martin function along a slice $\Omega\cap (\{t\}\times\mathbb{R}^d)$ is attained at $(t,0).$, Comment: Statement of Theorem 1.2 revised. 8 pages, 2 figures

Published
2017
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5. Starting point for benchmarking outcomes and reporting of pituitary adenoma surgery within the European Reference Network on Rare Endocrine Conditions (Endo-ERN): results from a meta-analysis and survey study

Author

Zamanipoor Najafabadi, Amir H, primary, van der Meulen, Merel, additional, Priego Zurita, Ana Luisa, additional, Faisal Ahmed, S, additional, van Furth, Wouter R, additional, Charmandari, Evangelia, additional, Hiort, Olaf, additional, Pereira, Alberto M, additional, Dattani, Mehul, additional, Vitali, Diana, additional, de Graaf, Johan P, additional, Biermasz, Nienke R, additional, _, _, additional, Steenvoorden, D, additional, Bowring, I, additional, van der Klauw, MM, additional, Vergeer, RA, additional, Losa, M, additional, Mortini, P, additional, Drake, W, additional, Grieve, J, additional, Didi, M, additional, Mallucci, C, additional, Shaikh, MG, additional, Hassan, S, additional, Jorgensen, JOL, additional, Albarazi, M, additional, Zaharieva, S, additional, Hadzhiyanev, A., additional, Tóth, M, additional, Sípos, L, additional, Unuane, D, additional, D'Haens, J, additional, Feldt-Rasmussen, U, additional, Poulsgaard, L, additional, Brue, T, additional, Dufour, H, additional, Bertherat, J, additional, Gaillard, S, additional, Karavitaki, N, additional, Ahmed, S, additional, Unger, N, additional, Kreitschmann-Andermahr, I, additional, Gaztambide, S, additional, Pomposo, I, additional, Gan, H-W, additional, Dorward, N, additional, Fliers, E, additional, Hoogmoed, J, additional, Scaroni, C, additional, Denaro, L, additional, Nordenström, A, additional, Olsson, M, additional, Zilaitiene, B, additional, Tamašauskas, A, additional, Persani, L, additional, Lasio, G, additional, Maiter, D, additional, Raftopoulos, C, additional, Volke, V, additional, Rätsep, T, additional, Matarazzo, P, additional, Peretta, P, additional, Deutschbein, T, additional, Perez, J, additional, Zucchini, S, additional, Mazzatenta, D, additional, Grottoli, S, additional, Zenga, F, additional, Devuyst, F, additional, De Witte, O, additional, Gatto, F, additional, Rossi, D, additional, Schilbach, K, additional, Rachinger, W, additional, Beckers, A, additional, Martin, D, additional, Al-Mrayat, M, additional, Mathad, N, additional, Neggers, SJCMM, additional, Dallenga, AHG, additional, Lebl, J, additional, Tichy, M, additional, Reincke, MM, additional, van de Ven, AC, additional, van Lindert, E, additional, Kotnik, P, additional, Bošnjak, R, additional, Biagetti, B, additional, Cordero, E, additional, Colao, A, additional, and Cappabianca, P, additional

Published
2023
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8. Homozygous carriers of the G allele of rs4664447 of the glucagon gene (GCG) are characterised by decreased fasting and stimulated levels of insulin, glucagon and glucagon-like peptide (GLP)-1

Author

Torekov, S. S., Ma, L., Grarup, N., Hartmann, B., Hainerová, I. A., Kielgast, U., Kissow, H., Rosenkilde, M., Lebl, J., Witte, D. R., Jørgensen, T., Sandbaek, A., Lauritzen, T., Madsen, O. D., Wang, J., Linneberg, A., Madsbad, S., Holst, J. J., Hansen, T., Pedersen, O., and GIANT Consortium

Published
2011
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22. The contribution of X-chromosome genomic imprinting to the bicuspid aortic valve and aortic coarctation prevalence in women with Turner syndrome

Author

Klaskova, E, primary, Vrtel, P, additional, Vrtel, R, additional, Adamova, K, additional, Vrbicka, D.I.T.A, additional, Zapletalova, J, additional, Prochazka, M, additional, Pavlicek, J, additional, Lebl, J, additional, Stara, V, additional, Soucek, O, additional, Snajderova, M, additional, and Hana, V, additional

Published
2020
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27. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Author

Groeneweg, S., Geest, F.S. van, Abaci, A., Alcantud, A., Ambegaonkar, G.P., Armour, C.M., Bakhtiani, P., Barca, D., Bertini, E.S., Beijnum, I.M. van, Brunetti-Pierri, N., Bugiani, M., Cappa, M., Cappuccio, G., Castellotti, B., Castiglioni, C., Chatterjee, K., Coo, I.F.M. de, Coutant, R., Craiu, D., Crock, P., DeGoede, C., Demir, K., Dica, A., Dimitri, P., Dolcetta-Capuzzo, A., Dremmen, M.H.G., Dubey, R., Enderli, A., Fairchild, J., Gallichan, J., George, B., Gevers, E.F., Hackenberg, A., Halasz, Z., Heinrich, B., Huynh, T., Klosowska, A., Knaap, M.S. van der, Knoop, M.M. van der, Konrad, D., Koolen, D.A., Krude, H., Lawson-Yuen, A., Lebl, J., Linder-Lucht, M., Lorea, C.F., Lourenco, C.M., Lunsing, R.J., Lyons, G., Malikova, J., Mancilla, E.E., McGowan, A., Mericq, V., Lora, F.M., Moran, C., Muller, K.E., Oliver-Petit, I., Paone, L., Paul, P.G., Polak, M, Porta, F., Poswar, F.O., Reinauer, C., Rozenkova, K., Menevse, T.S., Simm, P., Simon, A., Singh, Y., Spada, M., Spek, J. van der, Stals, M.A.M., Stoupa, A., Subramanian, G.M., Tonduti, D., Turan, S., Uil, C.A. den, Vanderniet, J., Walt, A. van der, Wemeau, J.L., Wierzba, J., Wit, M.Y. de, Wolf, N.I., Wurm, M., Zibordi, F., Zung, A., Zwaveling-Soonawala, N., Visser, Wesley J., Groeneweg, S., Geest, F.S. van, Abaci, A., Alcantud, A., Ambegaonkar, G.P., Armour, C.M., Bakhtiani, P., Barca, D., Bertini, E.S., Beijnum, I.M. van, Brunetti-Pierri, N., Bugiani, M., Cappa, M., Cappuccio, G., Castellotti, B., Castiglioni, C., Chatterjee, K., Coo, I.F.M. de, Coutant, R., Craiu, D., Crock, P., DeGoede, C., Demir, K., Dica, A., Dimitri, P., Dolcetta-Capuzzo, A., Dremmen, M.H.G., Dubey, R., Enderli, A., Fairchild, J., Gallichan, J., George, B., Gevers, E.F., Hackenberg, A., Halasz, Z., Heinrich, B., Huynh, T., Klosowska, A., Knaap, M.S. van der, Knoop, M.M. van der, Konrad, D., Koolen, D.A., Krude, H., Lawson-Yuen, A., Lebl, J., Linder-Lucht, M., Lorea, C.F., Lourenco, C.M., Lunsing, R.J., Lyons, G., Malikova, J., Mancilla, E.E., McGowan, A., Mericq, V., Lora, F.M., Moran, C., Muller, K.E., Oliver-Petit, I., Paone, L., Paul, P.G., Polak, M, Porta, F., Poswar, F.O., Reinauer, C., Rozenkova, K., Menevse, T.S., Simm, P., Simon, A., Singh, Y., Spada, M., Spek, J. van der, Stals, M.A.M., Stoupa, A., Subramanian, G.M., Tonduti, D., Turan, S., Uil, C.A. den, Vanderniet, J., Walt, A. van der, Wemeau, J.L., Wierzba, J., Wit, M.Y. de, Wolf, N.I., Wurm, M., Zibordi, F., Zung, A., Zwaveling-Soonawala, N., and Visser, Wesley J.

Abstract

Contains fulltext : 220431.pdf (Publisher’s version ) (Closed access), BACKGROUND: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. METHODS: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. The key inclusion criterion was genetically confirmed MCT8 deficiency. There were no exclusion criteria. Our primary objective was to analyse the overall survival of patients with MCT8 deficiency and document causes of death. We also compared survival between patients who did or did not attain full head control by age 1.5 years and between patients who were or were not underweight by age 1-3 years (defined as a bodyweight-for-age Z score <-2 SDs or <5th percentile according to WHO definition). Other objectives were to assess neurocognitive function and outcomes, and clinical parameters including anthropometric characteristics, biochemical markers, and neuroimaging findings. FINDINGS: Between Oct 14, 2014, and Jan 17, 2020, we enrolled 151 patients with 73 different MCT8 (SLC16A2) mutations. Median age at diagnosis was 24.0 months (IQR 12.0-60.0, range 0.0-744.0). 32 (21%) of 151 patients died; the main causes of mortality in these patients were pulmonary infection (six [19%]) and sudden death (six [19%]). Median overall survival was 35.0 years (95% CI 8.3-61.7). Individuals who did not attain head control by age 1.5 years had an increased risk of death compared with patients who did attain head control (hazard ratio [HR] 3.46, 95% CI 1.76-8.34; log-rank test p=0.0041). Patients who were underweight during age 1-3 years had an increased risk for death compared with patients who

Published
2020

28. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Author

Groeneweg, S, van Geest, FS, Abaci, A, Alcantud, A, Ambegaonkar, GP, Armour, CM, Bakhtiani, P, Barca, D, Bertini, ES, van Beynum, IM, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, IFM, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, MHG, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, EF, Hackenberg, A, Halasz, Z, Heinrich, B, Huynh, T, Klosowska, A, van der Knaap, MS, van der Knoop, MM, Konrad, D, Koolen, DA, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, CF, Lourenco, CM, Lunsing, RJ, Lyons, G, Malikova, J, Mancilla, EE, McGowan, A, Mericq, V, Lora, FM, Moran, C, Mueller, KE, Oliver-Petit, I, Paone, L, Paul, PG, Polak, M, Porta, F, Poswar, FO, Reinauer, C, Rozenkova, K, Menevse, TS, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, MAM, Stoupa, A, Subramanian, GM, Tonduti, D, Turan, S, den Uil, CA, Vanderniet, J, van der Walt, A, Wemeau, J-L, Wierzba, J, de Wit, M-CY, Wolf, N, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N, Visser, WE, Groeneweg, S, van Geest, FS, Abaci, A, Alcantud, A, Ambegaonkar, GP, Armour, CM, Bakhtiani, P, Barca, D, Bertini, ES, van Beynum, IM, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, IFM, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, MHG, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, EF, Hackenberg, A, Halasz, Z, Heinrich, B, Huynh, T, Klosowska, A, van der Knaap, MS, van der Knoop, MM, Konrad, D, Koolen, DA, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, CF, Lourenco, CM, Lunsing, RJ, Lyons, G, Malikova, J, Mancilla, EE, McGowan, A, Mericq, V, Lora, FM, Moran, C, Mueller, KE, Oliver-Petit, I, Paone, L, Paul, PG, Polak, M, Porta, F, Poswar, FO, Reinauer, C, Rozenkova, K, Menevse, TS, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, MAM, Stoupa, A, Subramanian, GM, Tonduti, D, Turan, S, den Uil, CA, Vanderniet, J, van der Walt, A, Wemeau, J-L, Wierzba, J, de Wit, M-CY, Wolf, N, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N, and Visser, WE

Abstract

BACKGROUND: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. METHODS: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. The key inclusion criterion was genetically confirmed MCT8 deficiency. There were no exclusion criteria. Our primary objective was to analyse the overall survival of patients with MCT8 deficiency and document causes of death. We also compared survival between patients who did or did not attain full head control by age 1·5 years and between patients who were or were not underweight by age 1-3 years (defined as a bodyweight-for-age Z score <-2 SDs or <5th percentile according to WHO definition). Other objectives were to assess neurocognitive function and outcomes, and clinical parameters including anthropometric characteristics, biochemical markers, and neuroimaging findings. FINDINGS: Between Oct 14, 2014, and Jan 17, 2020, we enrolled 151 patients with 73 different MCT8 (SLC16A2) mutations. Median age at diagnosis was 24·0 months (IQR 12·0-60·0, range 0·0-744·0). 32 (21%) of 151 patients died; the main causes of mortality in these patients were pulmonary infection (six [19%]) and sudden death (six [19%]). Median overall survival was 35·0 years (95% CI 8·3-61·7). Individuals who did not attain head control by age 1·5 years had an increased risk of death compared with patients who did attain head control (hazard ratio [HR] 3·46, 95% CI 1·76-8·34; log-rank test p=0·0041). Patients who were underweight during age 1-3 years had an increased risk for death compared with patients who

Published
2020

33. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Author

Groeneweg, S., Peeters, R.P., Moran, C., Stoupa, A., Auriol, F., Tonduti, D., Dica, A., Paone, L., Rozenkova, K., Malikova, J., Walt, A. van der, Coo, I.F.M. de, McGowan, A., Lyons, G., Aarsen, F.K., Barca, D., Beynum, I.M. van, Knoop, M.M. van der, Jansen, J, Manshande, M., Lunsing, R.J., Nowak, S., Uil, C.A. den, Zillikens, M.C., Visser, F.E., Vrijmoeth, P., Wit, M.C. de, Wolf, N.I., Zandstra, A., Ambegaonkar, G., Singh, Y., Rijke, Y.B. de, Medici, M., Bertini, E.S., Depoorter, S., Lebl, J., Cappa, M., Meirleir, L. de, Krude, H., Craiu, D., Zibordi, F., Petit, I., Polak, M, Chatterjee, K., Visser, T.J., Visser, W.E., Groeneweg, S., Peeters, R.P., Moran, C., Stoupa, A., Auriol, F., Tonduti, D., Dica, A., Paone, L., Rozenkova, K., Malikova, J., Walt, A. van der, Coo, I.F.M. de, McGowan, A., Lyons, G., Aarsen, F.K., Barca, D., Beynum, I.M. van, Knoop, M.M. van der, Jansen, J, Manshande, M., Lunsing, R.J., Nowak, S., Uil, C.A. den, Zillikens, M.C., Visser, F.E., Vrijmoeth, P., Wit, M.C. de, Wolf, N.I., Zandstra, A., Ambegaonkar, G., Singh, Y., Rijke, Y.B. de, Medici, M., Bertini, E.S., Depoorter, S., Lebl, J., Cappa, M., Meirleir, L. de, Krude, H., Craiu, D., Zibordi, F., Petit, I., Polak, M, Chatterjee, K., Visser, T.J., and Visser, W.E.

Abstract

Contains fulltext : 215609.pdf (publisher's version ) (Closed access), BACKGROUND: Deficiency of the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) causes severe intellectual and motor disability and high serum tri-iodothyronine (T3) concentrations (Allan-Herndon-Dudley syndrome). This chronic thyrotoxicosis leads to progressive deterioration in bodyweight, tachycardia, and muscle wasting, predisposing affected individuals to substantial morbidity and mortality. Treatment that safely alleviates peripheral thyrotoxicosis and reverses cerebral hypothyroidism is not yet available. We aimed to investigate the effects of treatment with the T3 analogue Triac (3,3',5-tri-iodothyroacetic acid, or tiratricol), in patients with MCT8 deficiency. METHODS: In this investigator-initiated, multicentre, open-label, single-arm, phase 2, pragmatic trial, we investigated the effectiveness and safety of oral Triac in male paediatric and adult patients with MCT8 deficiency in eight countries in Europe and one site in South Africa. Triac was administered in a predefined escalating dose schedule-after the initial dose of once-daily 350 mug Triac, the daily dose was increased progressively in 350 mug increments, with the goal of attaining serum total T3 concentrations within the target range of 1.4-2.5 nmol/L. We assessed changes in several clinical and biochemical signs of hyperthyroidism between baseline and 12 months of treatment. The prespecified primary endpoint was the change in serum T3 concentrations from baseline to month 12. The co-primary endpoints were changes in concentrations of serum thyroid-stimulating hormone (TSH), free and total thyroxine (T4), and total reverse T3 from baseline to month 12. These analyses were done in patients who received at least one dose of Triac and had at least one post-baseline evaluation of serum throid function. This trial is registered with ClinicalTrials.gov, number NCT02060474. FINDINGS: Between Oct 15, 2014, and June 1, 2017, we screened 50 patients, all of whom were eligible. Of these patient

Published
2019

34. Syndrom Noonanové a další RASopatie: Etiologie, diagnostika a terapie.

Author

Lebl, J., Koloušková, S., Toni, L., Kodýtková, A., Amaratunga, S. A., Plachý, L., and Průhová, Š.

Abstract

Noonan syndrome and related conditions are classified as RASopathies due to their shared molecular pathogenesis. They represent frequent developmental syndromes with prevalence ranging from 1:1000 to 1:2500 live-born children, and follow an autosomal dominant mode of inheritance, with up to 60% of cases occurring sporadically due to de novo gene mutations. RASopathies are clinically characterized by the typical facial phenotype, delayed growth, and cardiac disease – predominantly pulmonary stenosis (50–60%) and/or hypertrophic cardiomyopathy (20%). Typical clinical presentations include failure to thrive with developmental delay and macrocephaly in infants, and growth delay with typical facial appearance and heart disease in older children. Adults with Noonan syndrome reach a mean height of only 162.5 cm (males) or 152.7 cm (females), due to the multifactorial growth disorder. Growth hormone administration leads to a final height increase from -2.5 SD to -1.4 SD (mean) and thereby extenuates the height handicap. Since 2020, growth hormone has been approved for treatment in Noonan syndrome in the E.U. by national medicine agencies. Individual treatment decisions are the responsibility of paediatric endocrinologists. [ABSTRACT FROM AUTHOR]

Published
2020

35. Růstové databáze a registry - cesta k poznání fyziologických účinků růstového hormonu.

Author

Kodýtková, A., Zemková, D., Koloušková, S., and Lebl, J.

Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2020

36. Etiologie a diagnostika poruchy růstu u dětí, které se narodily malé na svůj gestační věk (SGA) s přetrvávající malou výškou v dětství (SGA-SS).

Author

Toni, L., Plachý, L., Amaratunga, S. A., Kodýtková, A., Průhová, Š., and Lebl, J.

Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2020

37. Význam acidolabilní podjednotky (ALS) v etiologii a v diagnostice malého vzrůstu.

Author

Toni, L., Pádrová, K., Plachý, L., Dušátková, P., Elblová, L., Koloušková, S., Pechová, M., Šnajderová, M., Šumník, Z., Průhová, Š., and Lebl, J.

Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2020

40. Poruchy růstové ploténky jako príčina familiárně malého vzrůstu Věnováno významnému životnímu jubileu prof. MUDr. Lidky Lisé, DrSc.

Author

Plachý, L., Zemková, D., Š., Průhová, and Lebl, J.

Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2018

43. Tumor risk in disorders of sex development

Author

Pleskacova, Jana, Hersmus, Remko, Oosterhuis, Wolter, Setyawati, Bestari, Faradz, SMH, Cools, MBC, Wolffenbuttel, Katja, Lebl, J, Drop, Sten, Looijenga, LHJ (Leendert), Pathology, Radiotherapy, Pediatrics, and Urology

Published
2010

46. Homozygous carriers of the G allele of rs4664447 of the glucagon gene (GCG) are characterised by decreased fasting and stimulated levels of insulin, glucagon and glucagon-like peptide (GLP)-1

Author

Torekov, S S, Ma, L, Grarup, N, Hartmann, B, Hainerová, I A, Kielgast, U, Kissow, H, Rosenkilde, M, Lebl, J, Witte, D R, Jørgensen, T, Sandbaek, A, Lauritzen, T, Madsen, O D, Wang, J, Linneberg, A, Madsbad, S, Holst, J J, Hansen, T, Pedersen, O, Torekov, S S, Ma, L, Grarup, N, Hartmann, B, Hainerová, I A, Kielgast, U, Kissow, H, Rosenkilde, M, Lebl, J, Witte, D R, Jørgensen, T, Sandbaek, A, Lauritzen, T, Madsen, O D, Wang, J, Linneberg, A, Madsbad, S, Holst, J J, Hansen, T, and Pedersen, O

Abstract

The glucagon gene (GCG) encodes several hormones important for energy metabolism: glucagon, oxyntomodulin and glucagon-like peptide (GLP)-1 and -2. Variants in GCG may associate with type 2 diabetes, obesity and/or related metabolic traits.

Published
2011

47. GH and TSH deficiency [letter]

Author

Pfaffle, R.W., Martinez, R., Kim, C., Frisch, H., Lebl, J., Otten, B.J., and Heimann, G.

Subjects
Overig onderzoek afdeling Paediatrics
Abstract

Item does not contain fulltext 5 p.

Published
1998

48. The dynamic changes of zinc transporter 8 autoantibodies in Czech children from the onset of Type 1 diabetes mellitus

Author

Petruzelkova, L., primary, Ananieva-Jordanova, R., additional, Vcelakova, J., additional, Vesely, Z., additional, Stechova, K., additional, Lebl, J., additional, Dusatkova, P., additional, Sumnik, Z., additional, Coles, R., additional, Powell, M., additional, Furmaniak, J., additional, Rees Smith, B., additional, and Kolouskova, S., additional

Published
2013
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