Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Birgit, Weiss"'
Autor:
Birgit Weiss, Tim Ott, Philipp Vick, Julian C. Lui, Ralph Roeth, Sebastian Vogel, Stephan Waldmüller, Sandra Hoffmann, Jeffrey Baron, Jan M. Wit, Gudrun A. Rappold
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Very tall people attract much attention and represent a clinically and genetically heterogenous group of individuals. Identifying the genetic etiology can provide important insights into the molecular mechanisms regulating linear growth. We studied a
Externí odkaz:
https://doaj.org/article/b5a12474807949e08787b07642f023bf
Autor:
Birgit Weiss, Birgit Eberle, Ralph Roeth, Christiaan de Bruin, Julian C. Lui, Nagarajan Paramasivam, Katrin Hinderhofer, Hermine A. van Duyvenvoorde, Jeffrey Baron, Jan M. Wit, Gudrun A. Rappold
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk a
Externí odkaz:
https://doaj.org/article/085206a3981340ad9e5aca2df8e28d69
Autor:
Sandra Hoffmann, Christoph Paone, Simon A. Sumer, Sabrina Diebold, Birgit Weiss, Ralph Roeth, Sebastian Clauss, Ina Klier, Stefan Kääb, Andreas Schulz, Philipp S. Wild, Adil Ghrib, Tanja Zeller, Renate B. Schnabel, Steffen Just, Gudrun A. Rappold
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Sinus node dysfunction (SND) and atrial fibrillation (AF) often coexist; however, the molecular mechanisms linking both conditions remain elusive. Mutations in the homeobox-containing SHOX2 gene have been recently associated with early-onset and fami
Externí odkaz:
https://doaj.org/article/a07e786460d347e3bcd37db41c2f0485
Autor:
Antonino Montalbano, Lonny Juergensen, Ralph Roeth, Birgit Weiss, Maki Fukami, Susanne Fricke‐Otto, Gerhard Binder, Tsutomu Ogata, Eva Decker, Gudrun Nuernberg, David Hassel, Gudrun A Rappold
Publikováno v:
EMBO Molecular Medicine, Vol 8, Iss 12, Pp 1455-1469 (2016)
Abstract Mutations in the homeobox gene SHOX cause SHOX deficiency, a condition with clinical manifestations ranging from short stature without dysmorphic signs to severe mesomelic skeletal dysplasia. In rare cases, individuals with SHOX deficiency a
Externí odkaz:
https://doaj.org/article/58e159e9c09d4bc3a1633d55a5311edb
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2280ef8bb0638fba3b2ebbbc47220218
https://doi.org/10.1159/000507114
https://doi.org/10.1159/000507114
Autor:
Birgit Weiss, Simone Füßl, Eva Klingelmann, Nicola Hefner, Mechtild Petersen-Thiery, Alexandra Christa Lanzinger, Edward R. Salinas, Helena Hombeck, Petra Van Sloun, Sabine Zok, Sascha Pawlowski, Thomas Dolich
Publikováno v:
Science of The Total Environment. 672:669-679
Octocrylene is used as UV filter in personal care products with a high production volume and can be detected in surface water and biota. It is liquid at ambient temperature, highly lipophilic, has a high adsorption capacity to organic material and is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d916daa37665c06789a17c3d3d47575
https://doi.org/10.1016/j.scitotenv.2019.03.237
https://doi.org/10.1016/j.scitotenv.2019.03.237
Autor:
Nagarajan Paramasivam, Birgit Weiss, Birgit Eberle, Christiaan de Bruin, Jan M. Wit, Ralph Roeth, Katrin Hinderhofer, Jeffrey Baron, Hermine A van Duyvenvoorde, Julian C. Lui, Gudrun A. Rappold
Publikováno v:
Frontiers in Endocrinology
Frontiers in Endocrinology, Vol 12 (2021)
Frontiers in Endocrinology, 12. FRONTIERS MEDIA SA
Frontiers in Endocrinology, Vol 12 (2021)
Frontiers in Endocrinology, 12. FRONTIERS MEDIA SA
Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efa8b411d81dac424cf369f1593265d4
https://doi.org/10.3389/fendo.2021.660731
https://doi.org/10.3389/fendo.2021.660731
Autor:
Birgit Weiß
Publikováno v:
DO - Deutsche Zeitschrift für Osteopathie. 17:38-42
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd99b584f321f5d02f9d68250a350148
https://doi.org/10.1055/a-0732-3861
https://doi.org/10.1055/a-0732-3861
Autor:
Gudrun A. Rappold, Daniela Choukair, Georg F. Hoffmann, Cristina Martínez, Birgit Weiß, Anne Griesbeck, Matthias Schlesner, Franziska Simm, Markus Bettendorf, Roland Pfäffle, Jürgen Klammt, Stefan Wiemann, Nagarajan Paramasivam
Publikováno v:
Genetics in Medicine. 20:728-736
Combined pituitary hormone deficiency (CPHD) is characterized by a malformed or underdeveloped pituitary gland resulting in an impaired pituitary hormone secretion. Several transcription factors have been described in its etiology, but defects in kno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4c0414550f471c462e94edc92601717
https://doi.org/10.1038/gim.2017.165
https://doi.org/10.1038/gim.2017.165
Autor:
Birgit Eberle, Birgit Weiss, Philipp Vick, Gudrun A. Rappold, Isabelle Schneider, Daniela Choukair, Nagarajan Paramasivam, Ralph Roeth, Markus Bettendorf
Publikováno v:
Genes; Volume 12; Issue 12; Pages: 1862
Genes
Genes, Vol 12, Iss 1862, p 1862 (2021)
Genes
Genes, Vol 12, Iss 1862, p 1862 (2021)
Congenital primary hypothyroidism (CH; OMIM 218700) is characterized by an impaired thyroid development, or dyshormonogenesis, and can lead to intellectual disability and growth retardation if untreated. Most of the children with congenital hypothyro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50e1aebf5569b4f93232877400a0fdb4
https://doi.org/10.3390/genes12121862
https://doi.org/10.3390/genes12121862