Zobrazeno 1 - 10
of 99
pro vyhledávání: '"Joachim Pohlenz"'
Autor:
Sarah Catharina Grünert, Miriam Schmidts, Joachim Pohlenz, Matthias Volkmar Kopp, Markus Uhl, Karl Otfried Schwab
Publikováno v:
Case Reports in Pediatrics, Vol 2011 (2011)
Congenital central hypothyroidism (CCH) is a rare condition occurring in 1 : 20000 to 1 : 50000 newborns. As TSH plasma levels are low, CCH is usually not detected by TSH-based neonatal screening for hypothyroidism, and, as a result, diagnosis is oft
Externí odkaz:
https://doaj.org/article/355dfc91688845d3a73d7b3a23e97205
Autor:
Felix Watzka, Julia I. Staubitz, Alicia Poplawski, Julia Bode, Thomas J. Musholt, Joachim Pohlenz, Hauke Lang
Publikováno v:
Langenbeck's Archives of Surgery
Purpose Thyroid nodules in the pediatric population are more frequently associated with malignant thyroid disease than in adult cohorts. Yet, there is a potential risk of surgical overtreatment. With this single center study, an analysis of potential
Autor:
Katharina Lornsen, Georg F. Hoffmann, Nagarajan Paramasivam, Joachim Pohlenz, Birgit Weiss, Matthias Schlesner, Carina Klutmann, Gudrun A. Rappold, Birgit Eberle, Ralph Roeth, Markus Bettendorf, Pia Hermanns, Philipp Vick, Daniela Choukair, Jennifer Kreis
Publikováno v:
Hormone Research in Paediatrics. 93:16-29
Background: Congenital primary hypothyroidism (CH) is the most common endocrine disorder in neonates. Methods: To identify novel genes, we performed whole exome sequencing (WES) in 6 patients with CH due to thyroid dysgenesis (TD). The potential effe
Autor:
Mariacarolina Salerno, Heiko Krude, Laura Fugazzola, Gabor Szinnai, Tilman R Rohrer, Catherine Peters, Beate Bartés, Paul van Trotsenburg, Michel Polak, Mariacristina Vigone, Juliane Léger, Philip Murray, Patrice Rodien, Luisa de Sanctis, Alessandra Cassio, Luca Persani, Athanasia Stoupa, Régis Coutant, Joachim Pohlenz, Claudine Heinrichs, Dominique Luton, Véronique Beauloye
Publikováno v:
Thyroid, Vol. 31, no.3, p. 387-419 (2021)
Thyroid
Thyroid
Background: An ENDO-European Reference Network (ERN) initiative was launched that was endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology with 22 participants from the ENDO-ERN and the two societies
Publikováno v:
Thyroid. 30:1831-1833
We investigated the genetic cause of thyroid dyshormonogenesis in a girl with congenital hypothyroidism. Genetic analysis showed that she was homozygous for a hitherto not described mutation (c.1432_1433delGT, p.V478KfsX11) in the solute carrier fami
Autor:
Barbara Zieger, René P. Zahedi, Connie T.R.M. Stumpel, Dirk E Schrander, Oliver Pagel, Frauke Swieringa, Albert Sickmann, Kerstin Jurk, Fiorella A. Solari, Joachim Pohlenz, Johan W. M. Heemskerk, Jingnan Huang, Alexandra Russo, Irene M. L. W. Körver-Keularts, Nadine J.A. Mattheij, Marion A.H. Feijge, Jörg Faber, Florian Beck, Paola E. J. van der Meijden
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-16 (2020)
Scientific Reports, 10(1):11389. Nature Publishing Group
Scientific Reports
Scientific Reports, 10(1):11389. Nature Publishing Group
Scientific Reports
Patients diagnosed with pseudohypoparathyroidism type Ia (PHP Ia) suffer from hormonal resistance and abnormal postural features, in a condition classified as Albright hereditary osteodystrophy (AHO) syndrome. This syndrome is linked to a maternally
Autor:
Joachim Pohlenz, Markus Bettendorf
Publikováno v:
Pädiatrie ISBN: 9783662602997
Schilddrusenhormone spielen nicht nur im Energiestoffwechsel eine zentrale Rolle. Sie sind vor allem fur das normale Wachstum und die normale korperliche und geistige Entwicklung des Kindes unentbehrlich. Ihre Wirkung wird durch spezifische Schilddru
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da429ef5b8281c84311db07af8d8760c
https://doi.org/10.1007/978-3-662-60300-0_88
https://doi.org/10.1007/978-3-662-60300-0_88
Autor:
Markus Bettendorf, Joachim Pohlenz
Publikováno v:
Pädiatrie ISBN: 9783642546716
Pädiatrie
Pädiatrie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f32ad7c4023ca04281126d80a4ace99
https://doi.org/10.1007/978-3-642-54671-6_88-2
https://doi.org/10.1007/978-3-642-54671-6_88-2
Autor:
Małgorzata Kumorowicz-Czoch, Helmut Grasberger, Samuel Refetoff, Pia Hermanns, Joachim Pohlenz
Publikováno v:
Experimental and Clinical Endocrinology & Diabetes. 126:85-90
Objective To elucidate the molecular mechanism which causes thyroid dysgenesis (TD) in a boy with brain-lung-thyroid syndrome. Design, patients, measurements We describe a patient with TD, respiratory disease and cerebral palsy who is heterozygous fo
Autor:
Mira Kharbanda, Jeremy Jones, Pia Hermanns, Malcolm Donaldson, Iain Horrocks, Joachim Pohlenz
Publikováno v:
European Journal of Medical Genetics. 60:257-260
Brain-lung-thyroid syndrome (OMIM #610978) is associated with mutations in the NK2 homeobox 1 (NKX2-1) gene, a transcription factor important in development. 50% of patients are affected by the full triad, comprising congenital hypothyroidism, benign