Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Theda, Wessel"'
Publikováno v:
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz. 65:1119-1125
ZusammenfassungMenschen mit Seltenen Erkrankungen stehen im Gesundheitssystem vor besonderen Herausforderungen. Die Seltenheit der einzelnen Erkrankungen erschwert aus strukturellen, medizinischen und ökonomischen Gründen sowohl die medizinische Ve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e38f454a9328026540e178d4cf46987
https://doi.org/10.1007/s00103-022-03597-w
https://doi.org/10.1007/s00103-022-03597-w
Publikováno v:
Bundesgesundheitsblatt, Gesundheitsforschung, GesundheitsschutzLiteratur. 65(11)
People with rare diseases face specific challenges within the healthcare system. Due to the rarity of the individual diseases, both medical care and research are made difficult for structural, medical, and economic reasons. In 2010, the National Acti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cd5467987917f1a45c9ea3a9115d41d7
https://pubmed.ncbi.nlm.nih.gov/36239769
https://pubmed.ncbi.nlm.nih.gov/36239769
Autor:
George M. Martin, Norberto López, Kivanc Cefle, Davor Lessel, Sukru Ozturk, Junko Oshima, Joerg Schmidtke, P. F. Ippel, Bhaskar Saha, Gudrun Nürnberg, Joseph Boak, Fuki M. Hisama, Dru F. Leistritz, Daniel Eyman, Martin Poot, Katrin Friedrich, Holger Hoehn, Dincy Peter, María J. Garcia-F-Villalta, Lin Lee, Theda Wessel, Carolien M. Kets, Peter Nürnberg, Peter C. van den Akker, Christian Kubisch, Vítor Tedim Cruz, Birgit Groff-Kellermann, Chumei Li, Goli Compoginis
Publikováno v:
Human Genetics, 128, 103-11
HUMAN GENETICS, 128(1), 103-111. SPRINGER
Human Genetics, 128, 1, pp. 103-11
HUMAN GENETICS, 128(1), 103-111. SPRINGER
Human Genetics, 128, 1, pp. 103-11
Item does not contain fulltext Werner syndrome (WS) is an autosomal recessive segmental progeroid syndrome caused by null mutations at the WRN locus, which codes for a member of the RecQ family of DNA helicases. Since 1988, the International Registry
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13b70c3168e5331a43b20253ab0c5c8f
https://doi.org/10.1007/s00439-010-0832-5
https://doi.org/10.1007/s00439-010-0832-5
Autor:
Theda Wessel, Eva Klopocki, Klemens Raile, Monika Maringa, Jürgen Weber, Dorothee Deiss, Thomas Riebel, Annette Grüters, Denise Horn, Dominik N. Müller, Martin Holder, A. Galler, Reinhard Ullmann
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 94:2658-2664
HNF1B-maturity-onset diabetes of the young is caused by abnormalities in the HNF1B gene encoding the transcription factor HNF-1beta. We aimed to investigate detailed clinical features and the type of HNF1B gene anomaly in five pediatric cases with HN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a923df7e45789b30995670755b59cc6
https://doi.org/10.1210/jc.2008-2189
https://doi.org/10.1210/jc.2008-2189
Autor:
A. Sörgel, Constanze Pfitzer, Chao Chen, Anja Borgmann-Staudt, Thomas Keil, Diana Steinmann, Thorsten Langer, Theda Wessel
Publikováno v:
Journal of cancer research and clinical oncology. 140(10)
Fertility impairment and recovery after chemo- and radiotherapy have been reported in both male and female childhood cancer survivors, but little is known about the dynamics. Our aim, therefore, was to describe the development of fertility impairment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75850af664717492b332250d21971af1
https://pubmed.ncbi.nlm.nih.gov/24841737
https://pubmed.ncbi.nlm.nih.gov/24841737
Autor:
Guenter Henze, Cynthia Hohmann, Magdalena Balcerek, Anja Borgmann-Staudt, Thomas Keil, Simone Reinmuth, Theda Wessel
Publikováno v:
Hormone research in paediatrics. 77(2)
Background/Aims: With rising cure rates of childhood cancer, side effects of treatment are attracting increasing interest. The present analysis evaluates the influence of tumor localization, radiotherapy and chemotherapy on the age of menarche. Metho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e3d9abef34e106a8391f435db887c1d
https://pubmed.ncbi.nlm.nih.gov/22441660
https://pubmed.ncbi.nlm.nih.gov/22441660
Autor:
Klemens, Raile, Eva, Klopocki, Theda, Wessel, Dorothee, Deiss, Denise, Horn, Dominik, Müller, Reinhard, Ullmann, Annette, Grüters
Publikováno v:
Diabetes care. 31(11)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b68eb8379821c2efa8cb6d6b6f0083c8
https://pubmed.ncbi.nlm.nih.gov/18955710
https://pubmed.ncbi.nlm.nih.gov/18955710
Autor:
Klemens Raile, Dominik N. Müller, Reinhard Ullmann, Denise Horn, Eva Klopocki, Annette Grüters, Theda Wessel, Dorothee Deiss
Publikováno v:
Diabetes Care. 31:e83-e83
Mature-onset diabetes of the young 5 (MODY5) is characterized by a wide clinical spectrum, including diabetes and kidney disease (1–3). Associated gene defects are either mutations within HNF1B or a 1.4–1.5 Mb monoallelic deletion of chromosome 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::63ea793cd2c29bd18270b695d6deced5
https://doi.org/10.2337/dc08-0920
https://doi.org/10.2337/dc08-0920