Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Antonin, Eigel"'
Autor:
Arseni Markoff, Ulrike Nowak-Göttl, Jürgen Horst, Albena Todorova, Nadja Bogdanova, Bernd Dworniczak, C. Wermes, Hartmut Pollmann, Antonin Eigel, Roswith Eisert
Publikováno v:
Human Mutation. 26:249-254
Hemophilia A is the most frequently occurring X-linked bleeding disorder, affecting one to two out of 10,000 males worldwide. Various types of mutations in the F8 gene are causative for this condition. It is well known that the most common mutation i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56d67baf5119908e3f3df07c90b5ed98
https://doi.org/10.1002/humu.20208
https://doi.org/10.1002/humu.20208
Autor:
Jean Kister, Emmanuel Bissé, Thomas Epting, Alain Van Dorsselaer, Nathalie Zorn, Claude Schauber, Antonin Eigel, Laurent Kiger, Heinrich Wieland
Publikováno v:
Clinical Chemistry. 49:137-143
Background: Some of the genetic variants of hemoglobin (Hb) and their chemically modified species are known to affect the measurement of Hb A1c. The purpose of this study was to characterize Hb species in the blood sample of a 74-year-old German male
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de3cb575ef8b01590ee93655c8a4830e
https://doi.org/10.1373/49.1.137
https://doi.org/10.1373/49.1.137
Autor:
A. Van Dorsselaer, Nathalie Zorn, Antonin Eigel, M. Lizama, Winfried März, P. Huaman-Guillen, Emmanuel Bissé, H. Wieland
Publikováno v:
Clinical Chemistry. 44:2172-2177
Hemoglobin (Hb) Rambam, or β69[E13]Gly→Asp, has been identified in a German woman also suffering from non-insulin-dependent diabetes mellitus and chronic obstructive pulmonary disease. This is the first observation of this Hb variant in a German f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d15148dc6b0e2f5373c6659c94450c4a
https://doi.org/10.1093/clinchem/44.10.2172
https://doi.org/10.1093/clinchem/44.10.2172
Publikováno v:
Human Genetics. 102:647-652
Allelic frequencies for up to five short tandem repeat systems (HumTH01. HumVWA, HumF13B, HumCD4, HumD2111) were analyzed in seven population samples from Asia using the polymerase chain reaction and gel electrophoresis. No deviations from Hardy-Wein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::175e53dac82e9b930b7fb8ec1f9ca3a9
https://doi.org/10.1007/s004390050757
https://doi.org/10.1007/s004390050757
Publikováno v:
Human Genetics. 100:508-511
Mutational analysis of the gene for clotting factor VIII is complicated by its large size, the high frequency of de novo mutations and its tissue-specific expression. In order to facilitate the search for mutations, we have used a combination of reve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34529cd64cb999c1baa02eba82ae7743
https://doi.org/10.1007/s004390050543
https://doi.org/10.1007/s004390050543
Autor:
Marta Zygulska, Jürgen Horst, Agnieszka Sutkowska, Jacek J. Pietrzyk, Bernd Dworniczak, Antonin Eigel
Publikováno v:
Human Genetics. 88:91-94
In order to investigate the molecular basis of phenylketonuria (PKU) in the Polish population, we screened 44 mutant chromosomes from PKU probands for six known mutations, frequently occurring in western European countries, by polymerase chain reacti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cf51e519a5204a38ffeb3ec6dd45b2a
https://doi.org/10.1007/bf00204935
https://doi.org/10.1007/bf00204935
Publikováno v:
Human Mutation. 12:301-303
The X-linked bleeding disorder hemophilia A is caused by mutations in the coagulation factor VIII gene. A high frequency of de novo mutations and the large size of this gene complicate the molecular diagnostic of hemophilia A. Characterization of mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7895253d7c29f94546c0254b0751d98
https://doi.org/10.1002/(sici)1098-1004(1998)12:5<301::aid-humu2>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1998)12:5<301::aid-humu2>3.0.co
Autor:
Torpong, Sanguansermsri, Sourideth, Sengchanh, David, Horst, Antonin, Eigel, Gebhard, Flatz, Jürgen, Horst
Publikováno v:
Haematologica. 89(8)
Seven patients with unexplained anemia and mild thalassemic features were ascertained during a survey of hemoglobinopathies in the Sekong Province in South Laos. These patients belong to the Austroasiatic (Mon-Khmer) population of South Laos (officia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e7dcb90a6cf18629aeb652f9550f59d5
https://pubmed.ncbi.nlm.nih.gov/15757827
https://pubmed.ncbi.nlm.nih.gov/15757827
Autor:
Nadja, Bogdanova, Arseni, Markoff, Hartmut, Pollmann, Ulrike, Nowak-Göttl, Roswith, Eisert, Bernd, Dworniczak, Antonin, Eigel, Jürgen, Horst
Publikováno v:
Human mutation. 20(3)
Hemophilia A is a common X-linked bleeding disorder caused by various types of mutations in the factor VIII gene F8C. The most common intron 22-inversion is responsible for about 40% of the severe hemophilia A cases while large deletions, point mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8fc93221be97a043b8398f7825950d1b
https://pubmed.ncbi.nlm.nih.gov/12204009
https://pubmed.ncbi.nlm.nih.gov/12204009
Publikováno v:
Human Mutation. 2:74-76
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2404db395118b28c74e0a2008617d285
https://doi.org/10.1002/humu.1380020114
https://doi.org/10.1002/humu.1380020114