Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Georgia, Lahr"'
Autor:
Georgia Lahr, Joaquin Brintrup, Stefan Over, Gerhard E. Feurle, Klaus-Michel Debatin, Elisabeth Kohne
Publikováno v:
Haematologica, Vol 92, Iss 9 (2007)
Codon 104(−G), a heterozygous frameshift mutation in exon 2 of HBB, resulted in a dominantly inherited β0-phenotype with mild anemia in a German kindred, and thalassemia intermedia in the index patient. A co-inherited α gene triplication, long-te
Externí odkaz:
https://doaj.org/article/73d9485f3232416e8ba1e9d2bfb92306
Autor:
J. von Schnurbein, Heike Vollbach, Georgia Lahr, S. Brandt, Klaus-Michael Debatin, Christian Denzer, Martin Wabitsch
Publikováno v:
International Journal of Obesity. 41:13-22
We aimed to determine the prevalence of melanocortin-4 receptor (MC4R) variants in a large German cohort of children with obesity in a pediatric outpatient clinic and to ascertain whether there is a specific phenotype associated with loss-of-function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9270487945e287feb1d89c5b4cc23e62
https://doi.org/10.1038/ijo.2016.161
https://doi.org/10.1038/ijo.2016.161
Autor:
Barbara Moepps, Georgia Lahr, Martin Wabitsch, Petra Vatter, Peter Gierschik, Klaus-Michael Debatin, Pamela Fischer-Posovszky, Belinda Lennerz, Jan-Bernd Funcke, Ursula Kuhnle-Krahl
Publikováno v:
New England Journal of Medicine. 372:48-54
Mutations in the gene encoding leptin (LEP) typically lead to an absence of circulating leptin and to extreme obesity. We describe a 2-year-old boy with early-onset extreme obesity due to a novel homozygous transversion (c.298G→T) in LEP, leading t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a338b61d4f602c9bc2219782be2f0a4a
https://doi.org/10.1056/nejmoa1406653
https://doi.org/10.1056/nejmoa1406653
Autor:
Benjamin Mayer, Ulrike Spaniol, Jochen Klaus, Georgia Lahr, Georg B T von Boyen, Johannes Stephani, Carolin Pflüger, Jan Hendrik Niess, N. Degenkolb
Publikováno v:
Digestive Diseases and Sciences
Background and Aims Great efforts have been made to predict disease behavior over time and the response to treatment in Crohn’s disease (CD). Such understanding could personalize therapy. Early introduction of more aggressive therapies to patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fb4ed8f9335d9af1c1d3f97d088b0b1
http://europepmc.org/articles/PMC3306782
http://europepmc.org/articles/PMC3306782
Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene
Autor:
Martin, Wabitsch, Jan-Bernd, Funcke, Julia, von Schnurbein, Friederike, Denzer, Georgia, Lahr, Inas, Mazen, Mona, El-Gammal, Christian, Denzer, Anja, Moss, Klaus-Michael, Debatin, Peter, Gierschik, Vanisha, Mistry, Julia M, Keogh, I Sadaf, Farooqi, Barbara, Moepps, Pamela, Fischer-Posovszky
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
Context: Congenital leptin deficiency is a very rare cause of severe early-onset obesity. We recently characterized a mutation in the leptin gene (p.D100Y), which was associated with detectable leptin levels and bioinactivity of the hormone. Case Des
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8a8ba1a4c566b5f7914ffff3ab4a2367
https://pubmed.ncbi.nlm.nih.gov/26186301
https://pubmed.ncbi.nlm.nih.gov/26186301
Autor:
A. Schulz, Georgia Lahr, Catharina Schuetz, Eva-Maria Jacobsen, W. Friedrich, Klaus Schwarz, Markus Rojewski, Klaus-Michael Debatin, Manfred Hönig
Publikováno v:
Bone Marrow Transplantation. 47:305-307
SCID is a clinically defined group of monogenetic diseases characterized by life-threatening infections in early infancy. One variant of SCID is due to defects in the Zeta-chain-associated protein (ZAP-70; MIM+176947), which results in deficient sign
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6834b11ec235249f53b1c3af0af87355
https://doi.org/10.1038/bmt.2011.71
https://doi.org/10.1038/bmt.2011.71
Publikováno v:
Development Genes and Evolution. 211:361-366
One of the key end points for understanding the molecular basis of embryogenesis is the analysis of spatiotemporal patterns of gene expression. Methodical limitations due to low mRNA levels often prevent a tissue-specific resolution. In this study, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc6326031ff28406ebf4664818ddf3d0
https://doi.org/10.1007/s004270100154
https://doi.org/10.1007/s004270100154
Autor:
Georgia Lahr, Karin Schütze
Publikováno v:
Nature Biotechnology. 16:737-742
We describe a rapid noncontact method for the capture of single cells or small tissue areas of any size or shape directly within the cap of a common microfuge tube. Prior to the laser-mediated transfer, the specimen is isolated by laser microbeam mic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2abed5f7291531f5677220bd66cfb4ae
https://doi.org/10.1038/nbt0898-737
https://doi.org/10.1038/nbt0898-737
Publikováno v:
Neurogenetics, 1(4), 281-288. Springer Verlag
Neurogenetics, 1, 281-288. Springer Verlag GmbH
Scopus-Elsevier
Neurogenetics, 1, 281-288. Springer Verlag GmbH
Scopus-Elsevier
Sexual differentiation of the brain is thought to be regulated by hormonal signals from the developing male gonad. However, more-recent experimental and clinical data throw some doubt on the general validity of the "classical" steroid hypothesis and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c793fc9fb4d659a9120e915756d1db2
https://doi.org/10.1007/s100480050042
https://doi.org/10.1007/s100480050042
Publikováno v:
Journal of Medical Case Reports, Vol 7, Iss 1, p 7 (2013)
Journal of Medical Case Reports
Journal of Medical Case Reports
Introduction Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton. The absence or malfunction of osteoclasts is found to be strongly associated with the disease evolution. Currently, four clinically distinct fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb4506a59bc13f2e5366a7eebb6a1c52
http://www.jmedicalcasereports.com/content/7/1/7
http://www.jmedicalcasereports.com/content/7/1/7