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Antonin Eigel

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Nadja Bogdanova; Arseni Markoff; Hartmut Pollmann; Ulrike Nowak-Göttl; Roswith Eisert; Cornelia Wermes; Albena Todorova; Antonin Eigel; Bernd Dworniczak; Jürgen Horst
Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A.
Torpong Sanguansermsri; Sourideth Sengchanh; David Horst; Antonin Eigel; Gebhard Flatz; Jürgen Horst
The Southeast Asian 12.5 KB (delta-beta) degrees-deletion: a common beta-thalassemia in Mon-Khmer groups (Lao Theung) of South Laos.
Emmanuel Bissé; Claude Schauber; Nathalie Zorn; Thomas Epting; Antonin Eigel; Alain Van Dorsselaer; Heinrich Wieland; Jean Kister; Laurent Kiger
Hemoglobin Görwihl [alpha2beta(2)5(A2)Pro-->Ala], an electrophoretically silent variant with impaired glycation.

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All Publications

2005: Nadja Bogdanova; Arseni Markoff; Hartmut Pollmann; Ulrike Nowak-Göttl; Roswith Eisert; Cornelia Wermes; Albena Todorova; Antonin Eigel; Bernd Dworniczak; Jürgen Horst
Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A.
Human mutation 2005;26(3):249-54.
2004: Torpong Sanguansermsri; Sourideth Sengchanh; David Horst; Antonin Eigel; Gebhard Flatz; Jürgen Horst
The Southeast Asian 12.5 KB (delta-beta) degrees-deletion: a common beta-thalassemia in Mon-Khmer groups (Lao Theung) of South Laos.
Haematologica 2004;89(8):ECR29.
2003: Emmanuel Bissé; Claude Schauber; Nathalie Zorn; Thomas Epting; Antonin Eigel; Alain Van Dorsselaer; Heinrich Wieland; Jean Kister; Laurent Kiger
Hemoglobin Görwihl [alpha2beta(2)5(A2)Pro-->Ala], an electrophoretically silent variant with impaired glycation.
Clinical chemistry 2003;49(1):137-43.
2002: Nadja Bogdanova; Arseni Markoff; Hartmut Pollmann; Ulrike Nowak-Göttl; Roswith Eisert; Bernd Dworniczak; Antonin Eigel; Jürgen Horst
Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A.
Human mutation 2002;20(3):236-7.
2002: Nadja Bogdanova; Beate Lemcke; Arseni Markoff; Hartmut Pollmann; Bernd Dworniczak; Antonin Eigel; Jürgen Horst
Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.
Human mutation 2002;19(1):84.
2001: Nadja Bogdanova; Beate Lemcke; Arseni Markoff; Hartmut Pollmann; Bernd Dworniczak; Antonin Eigel; Jürgen Horst
Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.
Human mutation 2001;18(6):546.
2001: May Fouad Sadiq; Antonin Eigel; Jürgen Horst
Spectrum of beta-thalassemia in Jordan: identification of two novel mutations.
American journal of hematology 2001;68(1):16-22.
2000: Emmanuel Bissé; Nathalie Zorn; I Heinrichs; Antonin Eigel; Alain Van Dorsselaer; Heinrich Wieland; Jean Kister; Michael C Marden
Characterization of a new electrophoretically silent hemoglobin variant. Hb saale OR alpha 2beta 2 84(EF8)Thr --> Ala.
The Journal of biological chemistry 2000;275(28):21380-4.
1999: K Tavassoli; Antonin Eigel; Jürgen Horst
A deletion/insertion leading to the generation of a direct repeat as a result of slipped mispairing and intragenic recombination in the factor VIII gene.
Human genetics 1999;104(5):435-7.
1999: K Möller-Morlang; K Tavassoli; Antonin Eigel; Hartmut Pollmann; Jürgen Horst
Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation. Mutations in brief no. 245. Online.
Human mutation 1999;13(6):504.
1999: B Horst; Antonin Eigel; Torpong Sanguansermsri; Bernd Brinkmann
Human Y-chromosomal STR types in north Thailand.
International journal of legal medicine 1999;112(3):211-2.
1999: Gebhard Flatz; K Wilke; Yana V Syagailo; Antonin Eigel; Jürgen Horst
Beta-thalassemia in the German population: mediterranean, Asian and novel mutations. Mutations in brief no.228. Online.
Human mutation 1999;13(3):258.
1998: Emmanuel Bissé; Nathalie Zorn; Antonin Eigel; M Lizama; P Huaman-Guillen; Winfried März; Alain Van Dorsselaer; Heinrich Wieland
Hemoglobin Rambam (beta69[E13]Gly-->Asp), a pitfall in the assessment of diabetic control: characterization by electrospray mass spectrometry and HPLC.
Clinical chemistry 1998;44(10):2172-7.
1998: Burkhard Rolf; B Horst; Antonin Eigel; T Sagansermsri; Bernd Brinkmann; Jürgen Horst
Microsatellite profiles reveal an unexpected genetic relationship between Asian populations.
Human genetics 1998;102(6):647-52.
1998: Yana V Syagailo; K Wilke; Olga Okladnova; Antonin Eigel; M Lemmens; V Kramarov; Jürgen Horst
Different ocular abnormalities in individuals of a three-generation family caused by a new nonsense mutation in the PST domain of the PAX6 gene. Mutations in brief no. 189. Online.
Human mutation 1998;12(4):288.
1998: K Tavassoli; Antonin Eigel; K Wilke; Hartmut Pollmann; Jürgen Horst
Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping.
Human mutation 1998;12(5):301-3.
1998: K Tavassoli; Antonin Eigel; Bernd Dworniczak; E Valtseva; Jürgen Horst
Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC).
Human mutation 1998;Suppl 1():S260-2.
1997: K Tavassoli; Antonin Eigel; Hartmut Pollmann; Jürgen Horst
Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations.
Human genetics 1997;100(5-6):508-11.
1997: B Horst; Antonin Eigel; Torpong Sanguansermsri; Burkhard Rolf
Analysis of the short tandem repeat systems HumVWA and HumF13B in a population sample from northern Thailand.
International journal of legal medicine 1997;110(4):235-7.
1996: M Lemmens-Zygulska; Antonin Eigel; B Helbig; Torpong Sanguansermsri; Jürgen Horst; G Flatz
Prevalence of alpha-thalassemias in northern Thailand.
Human genetics 1996;98(3):345-7.
1996: Burkhard Tümmler; T Storrs; V Dziadek; Thilo Dörk; Thomas Meitinger; Astrid Golla; R M Bertele-Harms; H K Harms; E Schröder; A Claass; J Rutjes; Reinhard Schneppenheim; I Bauer; K Breuel; Manfred Stuhrmann; Jörg Schmidtke; M Lindner; Antonin Eigel; Jürgen Horst; R Kaiser; M J Lentze; K Schmidt; H von der Hardt; Xavier Estivill
Geographic distribution and origin of CFTR mutations in Germany.
Human genetics 1996;97(6):727-31.
1994: M Zygulska; Antonin Eigel; J J Pietrzyk; Jürgen Horst
Phenylketonuria in southern Poland: a new splice mutation in intron 9 at the PAH locus.
Human mutation 1994;4(4):297-9.
1994: J Weidner; Antonin Eigel; Jürgen Horst; W Köhnlein
Nonisotopic detection of mutations using a modified single-strand conformation polymorphism analysis.
Human mutation 1994;4(1):55-6.
1993: H Steger; Antonin Eigel; G Flatz; Jürgen Horst
Hemoglobin E and codon 17 nonsense: two beta-globin gene mutations common in Southeast Asia detected by the use of ARMS.
Annals of hematology 1993;67(3):119-20.
1993: D Meschede; Antonin Eigel; J Horst; E Nieschlag
Compound heterozygosity for the delta F508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens.
American journal of human genetics 1993;53(1):292-3.
1993: D Meschede; C Keck; Christian De Geyter; Antonin Eigel; Jürgen Horst; Eberhard Nieschlag
[Mutation in the cystic fibrosis transmembrane-regulator gene in bilateral congenital ductus deferens aplasia].
Deutsche medizinische Wochenschrift (1946) 1993;118(18):661-4.
1993: M Zygulska; Antonin Eigel; J J Pietrzyk; Jürgen Horst
Phenylalanine hydroxylase gene: a novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria.
Human mutation 1993;2(3):238-9.
1993: M Zygulska; Antonin Eigel; J J Pietrzyk; Peter Miny; Jürgen Horst
A novel mutation in exon 8 of the phenylalanine hydroxylase gene in the Polish population.
Human mutation 1993;2(1):74-6.
1992: Alexey Savov; Dora Angelicheva; Albena Jordanova; Antonin Eigel; Luba Kalaydjieva
High percentage acrylamide gels improve resolution in SSCP analysis.
Nucleic acids research 1992;20(24):6741-2.
1991: M Zygulska; Antonin Eigel; Bernd Dworniczak; A Sutkowska; J J Pietrzyk; Jürgen Horst
Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations.
Human genetics 1991;88(1):91-4.
1991: Antonin Eigel; Bernd Dworniczak; Luba Kalaydjieva; Jürgen Horst
A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1.
Human genetics 1991;87(6):739-41.
1991: Bernd Dworniczak; N Wedemeyer; Antonin Eigel; J Horst
PCR detection of the PvuII (Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus.
Nucleic acids research 1991;19(8):1958.
1991: M Zygulska; Antonin Eigel; C Aulehla-Scholz; J J Pietrzyk; Jürgen Horst
Molecular analysis of PKU haplotypes in the population of southern Poland.
Human genetics 1991;86(3):292-4.
1990: Luba Kalaydjieva; Bernd Dworniczak; C Aulehla-Scholz; Ivo Kremensky; J Bronzova; Antonin Eigel; Jürgen Horst
Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations.
Journal of medical genetics 1990;27(12):742-5.
1990: C Aulehla-Scholz; R Kaiser; J Weber; O Pivetta; Antonin Eigel; Bernd Dworniczak; K Olek; Jürgen Horst
The frequency of the CF delta F508 deletion in CF chromosomes of different ethnic origin.
Human genetics 1990;85(4):392-3.
1990: J Schnee; C Aulehla-Scholz; Antonin Eigel; Jürgen Horst
Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level.
Human genetics 1990;84(4):365-7.
1989: Luba Kalaydjieva; Antonin Eigel; J Horst
The molecular basis of beta thalassaemia in Bulgaria.
Journal of medical genetics 1989;26(10):614-8.
1989: J Schnee; Antonin Eigel; Jürgen Horst
Direct mutation analysis of beta-thalassemia genes in families of various ethnic origins residing in Germany.
Blut 1989;59(3):237-9.
1989: J Schnee; E U Griese; Antonin Eigel; Jürgen Horst
Beta-thalassemia gene analysis in a Turkish family reveals a 7 BP deletion in the coding region.
Blood 1989;73(8):2224-5.
1989: Antonin Eigel; J Schnee; R Oehme; Jürgen Horst
Mutation analysis of beta-thalassemia genes in a German family reveals a rare transversion in the first intron.
Human genetics 1989;81(4):371-2.
1989: C Aulehla-Scholz; R Spiegelberg; Peter Miny; W Holzgreve; Antonin Eigel; Bernd Dworniczak; Jürgen Horst
Direct sequencing of amplified DNA in prenatal diagnosis of beta-thalassaemia.
Lancet 1989;1(8633):326-7.
1988: J Weber; C Aulehla-Scholz; R Kaiser; Antonin Eigel; M Neugebauer; Jürgen Horst; K Olek
Cystic fibrosis: typing 89 German families with linked DNA probes.
Human genetics 1988;81(1):54-6.
1987: Jürgen Horst; G Assum; E U Griese; Antonin Eigel; W Hampl; Elisabeth Kohne
Hemoglobin M Iwate is caused by a C----T transition in codon 87 of the human alpha 1-globin gene.
Human genetics 1987;75(1):53-5.