检索结果 - Jan Lebl

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  1. 1
    Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4α, GCK and HNF-1α

    Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4α, GCK and HNF-1α 由 Štěpánka Průhová, Jakob Ek, Jan Lebl, Zdenĕk Šumnı́k, F Saudek, Michal Anděl, Oluf Pedersen, Torben Hansen

    出版 2003
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  2. 2
    Melanocortin 4 Receptor Mutations in Obese Czech Children: Studies of Prevalence, Phenotype Development, Weight Reduction Response, and Functional Analysis

    Melanocortin 4 Receptor Mutations in Obese Czech Children: Studies of Prevalence, Phenotype Development, Weight Reduction Response, and Functional Analysis 由 Irena Aldhoon Hainerová, Lesli H. Larsen, Birgitte Holst, Marie Finková, Vojtěch Hainer, Jan Lebl, Torben Hansen, Oluf Pedersen

    出版 2007
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  3. 3
    Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism

    Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in domina... 由 Eva Al Taji, Heike Biebermann, Z Límanová, O Hníková, Jaroslav Zikmund, Christof Dame, Annette Grüters, Jan Lebl, Heiko Krude

    出版 2007
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  4. 4
    Continued Growth Hormone (GH) Treatment after Final Height Is Necessary to Complete Somatic Development in Childhood-Onset GH-Deficient Patients

    Continued Growth Hormone (GH) Treatment after Final Height Is Necessary to Complete Somatic Development in Childhood-Onset GH-Deficient Patients 由 Andrea Attanasio, Elena P. Shavrikova, Werner Blum, Morris Cromer, Christopher J. Child, Magdalena Paskova, Jan Lebl, John J. Chipman, Stephen M. Shalet

    出版 2004
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  5. 5
    High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH

    High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH 由 Lukáš Plachý, Veronika Strakova, Lenka Elblová, Barbora Obermannová, Stanislava Koloušková, Marta Šnajderová, D Zemková, Petra Dušátková, Zdenĕk Šumnı́k, Jan Lebl, Štěpánka Průhová

    出版 2019
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  6. 6
    The Genetic Landscape of Children Born Small for Gestational Age with Persistent Short Stature

    The Genetic Landscape of Children Born Small for Gestational Age with Persistent Short Stature 由 Ledjona Toni, Lukáš Plachý, Petra Dušátková, Shenali Anne Amaratunga, Lenka Elblová, Zdenĕk Šumnı́k, Stanislava Kolouskova, Marta Šnajderová, Barbora Obermannová, Štěpánka Průhová, Jan Lebl

    出版 2023
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  7. 7
    Long-Term Stability of Amino Acids and Acylcarnitines in Dried Blood Spots

    Long-Term Stability of Amino Acids and Acylcarnitines in Dried Blood Spots 由 Kristina Anna Strnadová, Margareta Holub, Adolf Mühl, Georg Heinze, Rene Ratschmann, Hermann Mascher, Sylvia Stöckler‐Ipsiroglu, Franz Waldhauser, Felix Votava, Jan Lebl, Olaf A. Bodamer

    出版 2007
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  8. 8
    Gonadal Pathology and Tumor Risk in Relation to Clinical Characteristics in Patients with 45,X/46,XY Mosaicism

    Gonadal Pathology and Tumor Risk in Relation to Clinical Characteristics in Patients with 45,X/46,XY Mosaicism 由 Martine Cools, J. Pleskacova, Hans Stoop, Piet Hoebeke, Erik Van Laecke, Stenvert L. S. Drop, Jan Lebl, J. Wolter Oosterhuis, Leendert H. J. Looijenga, Katja P. Wolffenbuttel

    出版 2011
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  9. 9
    Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED

    Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED 由 Daniela Čiháková, Katarina Trebusak, Maarit Heino, Valentin Fadeyev, Anatoly Tiulpakov, Tadej Battelino, Attila Tar, Zita Halász, Peter Blümel, Sameh Tawfik, Kai Krohn, Jan Lebl, Pärt Peterson

    出版 2001
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  10. 10
    Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology

    Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology 由 J. Kaprova-Pleskacova, Hans Stoop, Hennie T. Brüggenwirth, Martine Cools, Katja P. Wolffenbuttel, Stenvert L. S. Drop, Marta Šnajderová, Jan Lebl, J. Wolter Oosterhuis, Leendert H. J. Looijenga

    出版 2013
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  11. 11
    <i>NPR2</i> Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy

    <i>NPR2</i> Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy 由 Lukáš Plachý, Petra Dušátková, Klára Maratová, Lenka Petruželková, D Zemková, Lenka Elblová, Petra Kučerová, Ledjona Toni, Stanislava Koloušková, Marta Šnajderová, Zdenĕk Šumnı́k, Jan Lebl, Štěpánka Průhová

    出版 2020
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  12. 12
    Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection

    Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection 由 Ewan R. Pearson, Štěpánka Průhová, Cees J. Tack, Anders Johansen, Harriet Castleden, P Lumb, Anthony S. Wierzbicki, P M Clark, Jan Lebl, Oluf Pedersen, Sian Ellard, Torben Hansen, Andrew T. Hattersley

    出版 2005
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  13. 13
    Treatment Burden of Weekly Somatrogon vs Daily Somatropin in Children With Growth Hormone Deficiency: A Randomized Study

    Treatment Burden of Weekly Somatrogon vs Daily Somatropin in Children With Growth Hormone Deficiency: A Randomized Study 由 Aristides Maniatis, Mauri Carakushansky, Sonya Galcheva, Gnanagurudasan Prakasam, Larry A. Fox, Adriana Dankovčíková, Jane Loftus, Andrew Palladino, Maria de los Angeles Resa, Carrie Turich Taylor, Mehul Dattani, Jan Lebl

    出版 2022
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  14. 14
    Further evidence that mutations in INScan be a rare cause of Maturity-Onset Diabetes of the Young (MODY)

    Further evidence that mutations in INScan be a rare cause of Maturity-Onset Diabetes of the Young (MODY) 由 Trine Welløv Boesgaard, Štěpánka Průhová, Ehm A. Andersson, Ondřej Cinek, Barbora Obermannová, Jeannet Lauenborg, Peter Damm, Regine Bergholdt, Flemming Pociot, Charlotta Pisinger, Fabrizio Barbetti, Jan Lebl, Oluf Pedersen, Torben Hansen

    出版 2010
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  15. 15
    Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia

    Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia 由 Vita Dolžan, J. Sólyom, G. Fekete, József Kovács, V Rakosnikova, Felix Votava, Jan Lebl, Z. Pribilincová, Sabina Baumgartner‐Parzer, Stefan Riedl, Franz Waldhauser, H Frisch, M Stopar-Obreza, Ciril Kržišnik, Tadej Battelino

    出版 2005
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  16. 16
    Genetic evidence that HNF-1α–dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function

    Genetic evidence that HNF-1α–dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function 由 Sara K. Hansen, Marcelina Párrizas, Maria L. Jensen, Štěpánka Průhová, Jakob Ek, Sylvia F. Boj, Anders Johansen, M.A. Maestro, Francisca Rivera, Hans Eiberg, Michal Anděl, Jan Lebl, Oluf Pedersen, Jorge Ferrer, Torben Hansen

    出版 2002
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  17. 17
    High Incidence of Heterozygous<i>ABCC8</i>and<i>HNF1A</i>Mutations in Czech Patients With Congenital Hyperinsulinism

    High Incidence of Heterozygous<i>ABCC8</i>and<i>HNF1A</i>Mutations in Czech Patients With Congenital Hyperinsulinism 由 Klára Roženková, Jana Malíková, Azizun Nessa, Lenka Dušátková, Lise Bjørkhaug, Barbora Obermannová, Petra Dušátková, Jitka Kytnarová, Ingvild Aukrust, Laeya A. Najmi, Blanka Rypáčková, Zdenĕk Šumnı́k, Jan Lebl, Pål R. Njølstad, Khalid Hussain, Štěpánka Průhová

    出版 2015
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  18. 18
    Tolerogenic Dendritic Cells from Poorly Compensated Type 1 Diabetes Patients Have Decreased Ability To Induce Stable Antigen-Specific T Cell Hyporesponsiveness and Generation of Suppressive Regulatory T Cells

    Tolerogenic Dendritic Cells from Poorly Compensated Type 1 Diabetes Patients Have Decreased Ability To Induce Stable Antigen-Specific T Cell Hyporesponsiveness and Generation of Su... 由 Klára Dáňová, Anna Grohová, Pavla Strnadová, David P. Funda, Zdenĕk Šumnı́k, Jan Lebl, Ondřej Cinek, Štěpánka Průhová, Stanislava Koloušková, Barbora Obermannová, Lenka Petruželková, Anna Šedivá, Petra Fundová, Karsten Buschard, Radek Špíšek, Lenka Palová-Jelínková

    出版 2016
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  19. 19
    Genetic evidence that HNF-1α–dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function

    Genetic evidence that HNF-1α–dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function 由 Sara K. Hansen, Marcelina Párrizas, Maria L. Jensen, Štěpánka Průhová, Jakob Ek, Sylvia F. Boj, Anders Johansen, M.A. Maestro, Francisca Rivera, Hans Eiberg, Michal Anděl, Jan Lebl, Oluf Pedersen, Jorge Ferrer, Torben Hansen

    出版 2002
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  20. 20
    7234 Creation Of The Minimum Dataset Required For Monitoring The Safety And Efficacy of Growth Hormone Therapy in Children with Noonan Syndrome - A GloBE-Reg Initiative

    7234 Creation Of The Minimum Dataset Required For Monitoring The Safety And Efficacy of Growth Hormone Therapy in Children with Noonan Syndrome - A GloBE-Reg Initiative 由 Suet Ching Chen, Jillian Bryce, Minglu Chen, Gerhard Binder, Catherine S Choong, Thomas Édouard, Antony Fu, Reiko Horikawa, A. R. Hubbard, Jan Lebl, Laura Mazzanti, Alicia Romanò, M Guftar Shaikh, Federica Tamburrino, Sonia Tamponi, Pierre Yger, S. Faisal Ahmed, Alexander A.L. Jorge

    出版 2024
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