Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Maik, Welzel"'
Autor:
Vera Splittstösser, Felix Schreiner, Bettina Gohlke, Maik Welzel, Paul-Martin Holterhus, Joachim Woelfle
Publikováno v:
BMC Endocrine Disorders, Vol 19, Iss 1, Pp 1-4 (2019)
Abstract Background We report a novel mutation within the StAR gene, causing congenital adrenal hyperplasia, with the so far unreported association with heterochromia iridis. Case presentation In a now 15-year-old girl (born at 41 + 6 weeks of gestat
Externí odkaz:
https://doaj.org/article/bdb3593dceb441aab1d0be6d379e0c4c
Autor:
Julia Kolarova, Ole Ammerpohl, Jana Gutwein, Maik Welzel, Inka Baus, Felix G Riepe, Thomas Eggermann, Almuth Caliebe, Paul-Martin Holterhus, Reiner Siebert, Susanne Bens
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0120463 (2015)
Treatment with recombinant human growth hormone (rhGH) has been consistently reported to induce transcriptional changes in various human tissues including peripheral blood. For other hormones it has been shown that the induction of such transcription
Externí odkaz:
https://doaj.org/article/c1e294a34b1d496ea24bb0000cced3f0
Autor:
Felix Schreiner, Vera Splittstösser, Joachim Woelfle, Maik Welzel, Paul-Martin Holterhus, Bettina Gohlke
Publikováno v:
BMC Endocrine Disorders
BMC Endocrine Disorders, Vol 19, Iss 1, Pp 1-4 (2019)
BMC Endocrine Disorders, Vol 19, Iss 1, Pp 1-4 (2019)
Background We report a novel mutation within the StAR gene, causing congenital adrenal hyperplasia, with the so far unreported association with heterochromia iridis. Case presentation In a now 15-year-old girl (born at 41 + 6 weeks of gestation) adre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::802ad747127c17ad03322e94d3f66629
https://doi.org/10.1186/s12902-019-0448-2
https://doi.org/10.1186/s12902-019-0448-2
Autor:
H. U. Schweikert, Olaf Hiort, Ole Ammerpohl, Susanne Bens, Hendrik G. Stunnenberg, Alexandra Kulle, Paul-Martin Holterhus, Nina C. Hubner, Ralf Werner, Anne Katrin Eckstein, Annemarie Verrijn-Stuart, Martine Cools, Helmuth G. Dörr, Susanne Gonzalves, Reiner Siebert, Nadine Hornig, Maik Welzel, Pascal Rodens
Publikováno v:
The Journal of clinical endocrinology and metabolism, 103(12), 4617. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 103, 12, pp. 4617-4627
Journal of Clinical Endocrinology and Metabolism, 103, 4617-4627
Journal of Clinical Endocrinology and Metabolism, 103, 12, pp. 4617-4627
Journal of Clinical Endocrinology and Metabolism, 103, 4617-4627
Contains fulltext : 197541.pdf (Publisher’s version ) (Closed access) Context: Inactivating mutations within the AR-gene are present in only around 40% of individuals with clinically and hormonally diagnosed androgen insensitivity syndrome (AIS). P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62e58acb268e331df0c790daa943f487
https://dspace.library.uu.nl/handle/1874/373771
https://dspace.library.uu.nl/handle/1874/373771
Autor:
Franziska Phan-Hug, Daniel Konrad, Katharina Spanaus, Maik Welzel, Paul-Martin Holterhus, Eugen J. Schoenle, Dagmar l'Allemand, Mariarosaria Lang-Muritano, Beate Ruecker, Claudia Katschnig
Publikováno v:
Hormone Research in Paediatrics. 84:43-48
Background/Aims: Primary hypoaldosteronism is a rare inborn disorder with life-threatening symptoms in newborns and infants due to an aldosterone synthase defect. Diagnosis is often difficult as the plasma aldosterone concentration (PAC) can remain w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ae9f358ea76fa1a4620527ebe99c29e
https://doi.org/10.1159/000381852
https://doi.org/10.1159/000381852
Autor:
Alexandra Kulle, Thomas Reinehr, Paul-Martin Holterhus, Caroline Knop, Barbara Wolters, Nina Lass, Maik Welzel
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 99:2391-2399
Clinical features of Metabolic Syndrome (MetS) and Cushing's Syndrome are similar, suggesting a pathogenetic role of hypothalamus-pituitary-adrenal axis in MetS.The aim of the study was to determine whether MetS diagnosis and specific clusters of Met
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15bb03ae856a23da3226d732ddbaaccc
https://doi.org/10.1210/jc.2013-4398
https://doi.org/10.1210/jc.2013-4398
17α-Hydroxylase Deficiency Diagnosed in Early Infancy Caused by a Novel Mutation of the CYP17A1 Gene
Autor:
Christina Petri, Maik Welzel, Jens Siegel, Sabine Heger, Paul-Martin Holterhus, Felix G. Riepe, Alexandra Kulle, Michaela F. Hartmann, Joachim Grötzinger, Ralf L. Schild, Stefan A. Wudy
Publikováno v:
Hormone Research in Paediatrics. 81:350-355
Background: Mutations of the CYP17A1 gene cause 17α-hydroxylase deficiency (17OHD) resulting in 46,XY disorder of sex development, hypertension, hypokalemia and absent pubertal development. It is a rare, autosomal recessive form of congenital adrena
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b64f9aa449c1ce21487c20a4ed384d62
https://doi.org/10.1159/000357065
https://doi.org/10.1159/000357065
Autor:
Barbara Wolters, Nina Lass, Felix G. Riepe, Thomas Reinehr, Maik Welzel, Alexandra Kulle, Paul-Martin Holterhus
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 98:E1022-E1030
Little information is available on the steroid hormone profiles in obese children and their changes after weight loss.We compared liquid chromatography-tandem mass spectrometry of serum steroid hormone profiles between obese and normal-weight childre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6ce91819cfa8f5b8c712a87cb979dd0
https://doi.org/10.1210/jc.2013-1173
https://doi.org/10.1210/jc.2013-1173
Autor:
Alexander Claviez, S. Engler, Alexandra Kulle, F.G. Riepe, I. Leuschner, P.-M. Holterhus, Maik Welzel, I. Baus, J.D. Moritz
Publikováno v:
Monatsschrift Kinderheilkunde. 160:211-214
Bei der Patientin charakterisierte sich der Nebennierenrindentumor klinisch durch eine Virilisierung und Cushing-Syndrom bei Hormonexzess mit massiv erhohtem DHEAS (Dehydroepiandrosteronsulfat) und Androstendion sowie Hyperkortisolismus. Eine Virilis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::30ee1cc9d6f917023170ed539c832afe
https://doi.org/10.1007/s00112-011-2570-8
https://doi.org/10.1007/s00112-011-2570-8
Autor:
Maik Welzel, Jürgen Brämswig, Hans Peter Schwarz, Heiko Krude, Nils Krone, Gerhard Binder, Joerg Gromoll, Paul Martin Holterhus, Jürgen Hedderich, Helmuth-Günther Dörr, Annette Richter-Unruh, Felix G. Riepe, Marek Niedziela
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 95:2443-2450
In 21-hydroxylase (CYP21A2) deficiency (21OHD), the level of in vitro enzymatic function allows for classification of mutation groups (null, A, B, C) and prediction of disease severity. However, genital virilization in affected females correlates onl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5d25f97560b1bc2ccefa706240da7a1
https://doi.org/10.1210/jc.2009-1338
https://doi.org/10.1210/jc.2009-1338