Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Peter, Heidemann"'
Autor:
Heike Biebermann, Peter Heidemann, John C. Achermann, Bruno Ferraz-de-Souza, Vanessa Schröder, Lin Lin, Peter Wieacker, Birgit Köhler, Annette Grüters, Dirk Schnabel
Publikováno v:
Human Mutation
Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Human mutations in SF1 were initially found in two 46,XY female patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::143227e274ab3ab3c2d7ecfdb2890131
https://doi.org/10.1002/humu.20588
https://doi.org/10.1002/humu.20588
Autor:
Friedhelm, Raue, Josef, Pichl, Helmuth-G, Dörr, Dirk, Schnabel, Peter, Heidemann, Gerhard, Hammersen, Cornelia, Jaursch-Hancke, Reinhard, Santen, Christof, Schöfl, Martin, Wabitsch, Christine, Haag, Egbert, Schulze, Karin, Frank-Raue
Publikováno v:
Clinical endocrinology. 75(6)
Autosomal dominant hypocalcaemia or hypoparathyroidism is caused by activating mutations of the calcium-sensing receptor (CaSR). Treatment with calcium and vitamin D often worsens hypercalciuria and nephrocalcinosis, and renal impairment can result.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ca54de4b2b4a1b4e15aa92ebff3bcc90
https://pubmed.ncbi.nlm.nih.gov/21645025
https://pubmed.ncbi.nlm.nih.gov/21645025
Autor:
C. Gross, Peter Heidemann, Andreas Hehr, Ulrike Beudt, Dagmar Wahl, Uta Diebold, Ute Hehr, Dietmar Mueller
Publikováno v:
European Journal of Pediatrics. 163
Mutations in the human sonic hedgehog gene ( SHH) are the most frequent cause of autosomal dominant inherited holoprosencephaly (HPE), a complex brain malformation resulting from incomplete cleavage of the developing forebrain into two separate hemis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eefe538355cefbd3358592b34ebb51f
https://doi.org/10.1007/s00431-004-1459-0
https://doi.org/10.1007/s00431-004-1459-0
Publikováno v:
Human Genetics. 83:239-244
High-resolution chromosome analysis of a 19-year-old female proband with syndromic intrahepatic ductular hypoplasia (Alagille syndrome, AWS) revealed an interstitial deletion of chromosome 20p with breakpoints provisionally located in or close to p11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f2db97e376683e8e87db5dd614a74a6
https://doi.org/10.1007/bf00285164
https://doi.org/10.1007/bf00285164
Publikováno v:
Sexualitäten in unserer Gesellschaft
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10d835fc52b4c1f66c941e008bb3c53f
https://doi.org/10.1515/9783110863680-013
https://doi.org/10.1515/9783110863680-013
Autor:
Peter Heidemann, P Stubbe
Publikováno v:
The Journal of clinical endocrinology and metabolism. 47(1)
Iodine deficiency in adults caused preferred synthesis of T3; this observation has not been reported in iodine-deficient hypothyroid newborns. Serum total T4, total T3, and TSH have been determined in nine full term newborns with congenital hypothyro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae6b2d4cae5177bf6e5e83621b39e5bc
https://pubmed.ncbi.nlm.nih.gov/263290
https://pubmed.ncbi.nlm.nih.gov/263290
Publikováno v:
Pediatric Research. 19:636-636
Recently growth hormone (GH) treatment of patients with CD has been advocated because of insufficient GH secretion during sleep. We intended to prove these findings by comparing GH secretion during spontaneous sleep between 8 p.m. and 2 a.m. every 30
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d002b26f4be7760c5ed92c55e836e38d
https://doi.org/10.1203/00006450-198506000-00217
https://doi.org/10.1203/00006450-198506000-00217