Works by Wudy, Stefan A


Results: 104
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    Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency.

    Published in:
    Genes, 2022, v. 13, n. 5, p. 717, doi. 10.3390/genes13050717
    By:
    • Krasovec, Tjasa;
    • Sikonja, Jaka;
    • Zerjav Tansek, Mojca;
    • Debeljak, Marusa;
    • Ilovar, Sasa;
    • Trebusak Podkrajsek, Katarina;
    • Bertok, Sara;
    • Tesovnik, Tine;
    • Kovac, Jernej;
    • Suput Omladic, Jasna;
    • Hartmann, Michaela F.;
    • Wudy, Stefan A.;
    • Avbelj Stefanija, Magdalena;
    • Battelino, Tadej;
    • Kotnik, Primoz;
    • Groselj, Urh
    Publication type:
    Article
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    Ghrelin Receptor Gene: Identification of Several Sequence Variants in Extremely Obese Children and Adolescents, Healthy Normal-Weight and Underweight Students, and Children with Short Normal Stature.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 1, p. 157, doi. 10.1210/jc.2003-031395
    By:
    • HAI-JUN WANG;
    • GELLER, FRANK;
    • DEMPFLE, ASTRID;
    • SCHÄUBLE, NADINE;
    • FRIEDEL, SUSANN;
    • LICHTNER, PETER;
    • FONTENLA-HORRO, FRANCISCO;
    • WUDY, STEFAN;
    • HAGEMANN, SANDRA;
    • GORTNER, LUDWIG;
    • HUSE, KLAUS;
    • REMSCHMIDT, HELMUT;
    • BETTECKEN, THOMAS;
    • MEITINGER, THOMAS;
    • SCHÄFER, HELMUT;
    • HEBEBRAND, JOHANNES;
    • HINNEY, ANKE
    Publication type:
    Article
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    Ghrelin Receptor Gene: Identification of Several Sequence Variants in Extremely Obese Children and Adolescents, Healthy Normal-Weight and Underweight Students, and Children with Short Normal Stature.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 1996, v. 81, n. 1, p. 157, doi. 10.1210/jc.2003-031395
    By:
    • HAI-JUN WANG;
    • GELLER, FRANK;
    • DEMPFLE, ASTRID;
    • SCHAÜBLE, NADINE;
    • FRIEDEL, SUSANN;
    • LICHTNER, PETER;
    • FONTENLA-HORRO, FRANCISCO;
    • WUDY, STEFAN;
    • HAGEMANN, SANDRA;
    • GORTNER, LUDWIG;
    • HUSE, KLAUS;
    • REMSCHMIDT, HELMUT;
    • BETTECKEN, THOMAS;
    • MEITINGER, THOMAS;
    • SCHÄFER, HELMUT;
    • HEBEBRAND, JOHANNES;
    • HINNEY, ANKE
    Publication type:
    Article
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    Relevance of polymorphisms in MC4R and BDNF in short normal stature.

    Published in:
    2018
    By:
    • Herrfurth, Nikolas;
    • Volckmar, Anna-Lena;
    • Peters, Triinu;
    • Kleinau, Gunnar;
    • Müller, Anne;
    • Cetindag, Cigdem;
    • Schonnop, Laura;
    • Föcker, Manuel;
    • Dempfle, Astrid;
    • Wudy, Stefan A.;
    • Grant, Struan F. A.;
    • Reinehr, Thomas;
    • Cousminer, Diana L.;
    • Hebebrand, Johannes;
    • Biebermann, Heike;
    • Hinney, Anke;
    • Müller, Anne;
    • Föcker, Manuel
    Publication type:
    journal article
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    Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia.

    Published in:
    Clinical Genetics, 2023, v. 103, n. 1, p. 45, doi. 10.1111/cge.14239
    By:
    • van de Kamp, Jiddeke M.;
    • Bökenkamp, Arend;
    • Smith, Desiree E. C.;
    • Wamelink, Mirjam M. C.;
    • Jansen, Erwin E. W.;
    • Struys, Eduard A.;
    • Waisfisz, Quinten;
    • Verkleij, Marieke;
    • Hartmann, Michaela F.;
    • Wang, Rong;
    • Wudy, Stefan A.;
    • Paganini, Chiara;
    • Rossi, Antonio;
    • Finken, Martijn J. J.
    Publication type:
    Article
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    Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management.

    Published in:
    Endocrine Reviews, 2022, v. 43, n. 1, p. 91, doi. 10.1210/endrev/bnab016
    By:
    • Grinten, Hedi L Claahsen - van der;
    • Speiser, Phyllis W;
    • Ahmed, S Faisal;
    • Arlt, Wiebke;
    • Auchus, Richard J;
    • Falhammar, Henrik;
    • Flück, Christa E;
    • Guasti, Leonardo;
    • Huebner, Angela;
    • Kortmann, Barbara B M;
    • Krone, Nils;
    • Merke, Deborah P;
    • Miller, Walter L;
    • Nordenström, Anna;
    • Reisch, Nicole;
    • Sandberg, David E;
    • Stikkelbroeck, Nike M M L;
    • Touraine, Philippe;
    • Utari, Agustini;
    • Wudy, Stefan A
    Publication type:
    Article
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    Outcome for Pediatric Adreno-Cortical Tumors Is Best Predicted by the COG Stage and Five-Item Microscopic Score—Report from the German MET Studies.

    Published in:
    Cancers, 2023, v. 15, n. 1, p. 225, doi. 10.3390/cancers15010225
    By:
    • Kuhlen, Michaela;
    • Kunstreich, Marina;
    • Wudy, Stefan A.;
    • Holterhus, Paul-Martin;
    • Lessel, Lienhard;
    • Schneider, Dominik T.;
    • Brecht, Ines B.;
    • Schewe, Denis M.;
    • Seitz, Guido;
    • Roecken, Christoph;
    • Vokuhl, Christian;
    • Johann, Pascal D.;
    • Frühwald, Michael C.;
    • Vorwerk, Peter;
    • Redlich, Antje
    Publication type:
    Article
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    Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation.

    Published in:
    Sexual Development, 2016, v. 9, n. 5, p. 260, doi. 10.1159/000442309
    By:
    • Werner, Ralf;
    • Mönig, Isabel;
    • august, Julia;
    • Freiberg, Clemens;
    • Lünstedt, Ralf;
    • Reiz, Benedikt;
    • Wünsch, Lutz;
    • Holterhus, Paul-Martin;
    • Kulle, alexandra;
    • Döhnert, Ulla;
    • Wudy, Stefan a.;
    • Richter-Unruh, annette;
    • Thorns, Christoph;
    • Hiort, Olaf
    Publication type:
    Article
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    Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene.

    Published in:
    Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 1, p. 131, doi. 10.1515/jpem-2020-0245
    By:
    • Fanis, Pavlos;
    • Neocleous, Vassos;
    • Kosta, Konstantina;
    • Karipiadou, Aristea;
    • Hartmann, Michaela F.;
    • Wudy, Stefan A.;
    • Karantaglis, Nikolaos;
    • Papadimitriou, Dimitrios T.;
    • Skordis, Nicos;
    • Tsikopoulos, Georgios;
    • Phylactou, Leonidas A.;
    • Roilides, Emmanouil;
    • Papagianni, Maria
    Publication type:
    Article
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    Development of 24-Hour Rhythms in Cortisol Secretion Across Infancy: A Systematic Review and Meta-Analysis of Individual Participant Data.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 2, p. e515, doi. 10.1210/clinem/dgae590
    By:
    • Kervezee, Laura;
    • Romijn, Michelle;
    • Weijer, Kirsten N G van de;
    • Chen, Britney S J;
    • Burchell, George L;
    • Tollenaar, Marieke S;
    • Tamayo-Ortiz, Marcela;
    • Philbrook, Lauren E;
    • Weerth, Carolina de;
    • Cao, Yang;
    • Rotteveel, Joost;
    • Eiden, Rina D;
    • Azar, Rima;
    • Bush, Nicole R;
    • Chis, Adina;
    • Kmita, Grazyna;
    • Clearfield, Melissa W;
    • Beijers, Roseriet;
    • Gröschl, Michael;
    • Wudy, Stefan A
    Publication type:
    Article
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    Personalized approach to childhood obesity: Lessons from gut microbiota and omics studies. Narrative review and insights from the 29th European childhood obesity congress.

    Published in:
    Pediatric Obesity, 2021, v. 16, n. 10, p. 1, doi. 10.1111/ijpo.12835
    By:
    • Gawlik, Aneta;
    • Salonen, Anne;
    • Jian, Ching;
    • Yanover, Chen;
    • Antosz, Aleksandra;
    • Shmoish, Michael;
    • Wasniewska, Malgorzata;
    • Bereket, Abdullah;
    • Wudy, Stefan A.;
    • Hartmann, Michaela F.;
    • Thivel, David;
    • Matusik, Pawel;
    • Weghuber, Daniel;
    • Hochberg, Ze'ev
    Publication type:
    Article
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