Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Michaela, Plamper"'
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:
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:
Barbara Bohn, Beate Karges, Christian Vogel, Klaus-Peter Otto, Wolfgang Marg, Sabine E Hofer, Elke Fröhlich-Reiterer, Martin Holder, Michaela Plamper, Martin Wabitsch, Wolfgang Kerner, Reinhard W Holl, DPV Initiative
Publikováno v:
PLoS ONE, Vol 11, Iss 8, p e0160971 (2016)
To investigate changes in diabetes treatment over the last two decades in three age-groups of children and adolescents with type 1 diabetes (T1D) from Germany and Austria.63,967 subjects (
Externí odkaz:
https://doaj.org/article/055458692da447a39a989240e773221d
Publikováno v:
Molecular and cellular pediatrics. 9(1)
The PTEN hamartoma tumor syndrome (PHTS) encompasses several different syndromes, which are linked to an autosomal-dominant mutation of the tumor suppressor PTEN gene on chromosome 10. Loss of PTEN activity leads to an increased phosphorylation of di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fc4c2c4fd671e0d8b993fab67c795a39
https://pubmed.ncbi.nlm.nih.gov/35187600
https://pubmed.ncbi.nlm.nih.gov/35187600
Autor:
Elisa De Franco, Michaela Plamper, Felix Schreiner, Vera Splittstoesser, Werner Garbe, Heike Vollbach, Gesche Dueker, Jayne A L Houghton, Bettina Gohlke, Rainer Ganschow
Publikováno v:
Frontiers in Endocrinology
Frontiers in Endocrinology, Vol 12 (2021)
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbaa2a9dc7cf6646ac71d4c5eabc746c
http://europepmc.org/articles/PMC8087289
http://europepmc.org/articles/PMC8087289
Autor:
Joachim Woelfle, Peter Bartmann, Bettina Gohlke, Birgit Stoffel-Wagner, Sandra Schulte, Felix Schreiner, Michaela Plamper, Lioba Schmitz
Publikováno v:
Hormone research in paediatrics. 93(7-8)
Background: Adverse prenatal conditions can exert a long-lasting impact in later life. Patients and Methods: Thirty-eight post-pubertal monozygotic twin pairs (16 female pairs) with divergent birthweight (bw) due to twin-to-twin transfusion syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce62bf1b6d97a0f6fc3788dd816c5ba9
https://pubmed.ncbi.nlm.nih.gov/33567430
https://pubmed.ncbi.nlm.nih.gov/33567430
Autor:
Peter Bartmann, Joachim Woelfle, Michaela Plamper, Felix Schreiner, Bettina Gohlke, Birgit Stoffel-Wagner, Rolf Fimmers, Mathias Gruenewald, Michaela F. Hartmann, Sandra Schulte, Charlotte Kasner, Stefan A. Wudy
Publikováno v:
The Journal of clinical endocrinology and metabolism. 105(10)
ObjectiveAlthough low birthweight (bw) and unfavorable intrauterine conditions have been associated with metabolic sequelae in later life, little is known about their impact on steroid metabolism. We studied genetically identical twins with intra-twi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3671a8e870ea04783158b8ce4caa83f
https://pubmed.ncbi.nlm.nih.gov/32717093
https://pubmed.ncbi.nlm.nih.gov/32717093
Publikováno v:
Cancers
PTEN hamartoma tumor syndrome (PHTS) encompasses different syndromic disorders which are associated with autosomal-dominant mutations of the tumor suppressor gene PTEN. Patients are at high risk to develop benign and malignant tumors. Macrocephaly is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0ea4e468c63dd5ecd2be4200fa9f61e0
https://pubmed.ncbi.nlm.nih.gov/31336731
https://pubmed.ncbi.nlm.nih.gov/31336731
Autor:
Birgit Rami-Merhar, Olga Kordonouri, Michaela Plamper, Katrin Nagl, Carmen Schröder, Axel Dost, Julia M. Hermann, Reinhard W. Holl
Publikováno v:
Pediatric Diabetes. 18:428-434
Objective Insulin dose-adjusted hemoglobin A1c (HbA1C, IDAA1c) correlates well with stimulated C-peptide levels, but has not yet been evaluated in a large cohort of patients with Type 1 diabetes (T1D). Methods We investigated prevalence of partial re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e8ca9a83d2f821861ef571b6c0fc3e89
https://doi.org/10.1111/pedi.12413
https://doi.org/10.1111/pedi.12413
Publikováno v:
International Journal of Molecular Sciences, Vol 19, Iss 5, p 1268 (2018)
International Journal of Molecular Sciences
International Journal of Molecular Sciences
Mutations in the insulin receptor (INSR) gene underlie rare severe INSR-related insulin resistance syndromes (SIR), including insulin resistance type A, Rabson–Mendenhall syndrome and Donohue syndrome (DS), with DS representing the most severe form
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8663c91cb9b4622673b163039df014b0
http://www.mdpi.com/1422-0067/19/5/1268
http://www.mdpi.com/1422-0067/19/5/1268