Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Bettina, Gohlke"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background To evaluate the impact of coronavirus disease 2019 (COVID-19) on polysomnographic evaluation in patients with Prader-Willi syndrome (PWS). Patients and methods A retrospective cohort study of two consecutive overnight polysomnogra
Externí odkaz:
https://doaj.org/article/8a7d671a968c43dcbeb132e435c9dbd4
Autor:
Ayse Nurcan Cebeci, Vera Schempp, Katharina Förtsch, Bettina Gohlke, Michaela Marx, Helmuth-Guenther Dörr, Joachim Woelfle
Publikováno v:
Endocrine Connections, Vol 13, Iss 6, Pp 1-6 (2024)
While subclinical or overt hypothyroidism are common in Down syndrome (DS); Graves’ disease (GD) is rare (ranges 0.6–3%). We aimed to evaluate the clinical features, course, and treatment of GD in children with DS and compare them with those with
Externí odkaz:
https://doaj.org/article/578432f51410462c915b5dac3575430f
Autor:
Christina Reinauer, Sascha R. Tittel, Annabel Müller-Stierlin, Harald Baumeister, Petra Warschburger, Katharina Klauser, Kirsten Minden, Doris Staab, Bettina Gohlke, Bettina Horlebein, Karl Otfried Schwab, Thomas Meißner, Reinhard W. Holl
Publikováno v:
Child and Adolescent Psychiatry and Mental Health, Vol 17, Iss 1, Pp 1-9 (2023)
Abstract Background The daily demands of type 1 diabetes management may jeopardize adolescents’ mental health. We aimed to assess anxiety and depression symptoms by broad-scale, tablet-based outpatient screening in adolescents with type 1 diabetes
Externí odkaz:
https://doaj.org/article/ec26668163c4409db419735975361528
Publikováno v:
BMJ Paediatrics Open, Vol 7, Iss 1 (2023)
An unusual high number of girls were referred to our paediatric endocrine clinic with suspected precocious puberty (PP) since the beginning of the COVID-19 pandemic. We analysed our data and initiated a survey among German paediatric endocrinologists
Externí odkaz:
https://doaj.org/article/2e2e8b5220ab47bca8b8744a73780503
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Prader-Willi-Syndrome (PWS) is characterized by hypothalamic-pituitary dysfunction. Recent research suggests starting growth hormone-treatment (GHT) as soon as possible. The aim of this study is to analyze possible differences in
Externí odkaz:
https://doaj.org/article/e1728a51d61b490ab6d4c4537141ab6d
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:
Vera Splittstoesser, Heike Vollbach, Michaela Plamper, Werner Garbe, Elisa De Franco, Jayne A. L. Houghton, Gesche Dueker, Rainer Ganschow, Bettina Gohlke, Felix Schreiner
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
BackgroundNeonatal diabetes with congenital hypothyroidism (NDH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLI-similar 3 coding gene GLIS3. Almost 20 patients have been reported to date, with signific
Externí odkaz:
https://doaj.org/article/2c4c6cfa982f459988f2117f3d8b8ff1
Autor:
Joachim Wölfle, Bettina Gohlke
Publikováno v:
Monatsschrift Kinderheilkunde. 170:472-476
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::79b8c9721e78bf58692920ab31c6badf
https://doi.org/10.1007/s00112-022-01588-4
https://doi.org/10.1007/s00112-022-01588-4
Autor:
Michaela Plamper, Mark Born, Bettina Gohlke, Felix Schreiner, Sandra Schulte, Vera Splittstößer, Joachim Woelfle
Publikováno v:
Cells, Vol 9, Iss 7, p 1668 (2020)
Background: PTEN Hamartoma Tumor Syndrome (PHTS) is caused by germline autosomal-dominant mutations of the tumor suppressor gene PTEN. Subjects harbour an increased risk for tumor development, with thyroid carcinoma occurring in young children. Estab
Externí odkaz:
https://doaj.org/article/5c245204cdc44d52b8e143f53dbc58c9
Autor:
Joachim Woelfle, Anders Lindberg, Ferah Aydin, Ken K. Ong, Cecilia Camacho-Hubner, Bettina Gohlke
Publikováno v:
Frontiers in Endocrinology, Vol 9 (2018)
BackgroundWhether children with chromosomal disorders of growth and puberty are affected by secular trends (STs) as observed in the general population remains unanswered, but this question has relevance for expectations of spontaneous development and
Externí odkaz:
https://doaj.org/article/38a85600c570482e8683bbd6345cdcf3