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A Eigel

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Articles 47
Citations 227
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Recent Articles
1.
Bogdanova N, Lemcke B, Markoff A, Pollmann H, Dworniczak B, Eigel A, et al.
Hum Mutat . 2001 Dec; 18(6):546. PMID: 11748850
Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene. The most common defect in patients...
2.
Sadiq M, Eigel A, Horst J
Am J Hematol . 2001 Sep; 68(1):16-22. PMID: 11559932
Two hundred and forty-four beta-thalassemia alleles were identified from 135 unrelated occasionally and periodically transfusion dependent beta- and S/beta-thalassemia patients from all regions of Jordan. Allele identification was achieved by...
3.
Leuer M, Oldenburg J, Lavergne J, Ludwig M, Fregin A, Eigel A, et al.
Am J Hum Genet . 2001 Jun; 69(1):75-87. PMID: 11410838
Mutations in the large gene of clotting factor VIII (FVIII) are the most common events leading to severe human bleeding disorder. The high proportion of de novo mutations observed in...
4.
Bisse E, Zorn N, Heinrichs I, Eigel A, Van Dorsselaer A, Wieland H, et al.
J Biol Chem . 2000 Apr; 275(28):21380-4. PMID: 10770934
A new abnormal hemoglobin was detected in a young German anemic patient by cation-exchange high performance liquid chromatography (HPLC). Using a combination of electrospray mass spectrometry, HPLC, direct sequencing, and...
5.
Syagailo Y, Wilke K, Okladnova O, Eigel A, Lemmens M, Kramarov V, et al.
Hum Mutat . 2000 Feb; 12(4):288. PMID: 10660341
PAX6 is a candidate gene for familial aniridia. We have carried out a mutational analysis of the PAX6 gene in a three-generation family from Germany, containing 5 individuals affected with...
6.
Tavassoli K, Eigel A, Pollmann H, Horst J
Hum Mutat . 1999 Jul; 13(6):504. PMID: 10408784
Hemophilia A is an X-linked bleeding disease caused by mutations in the coagulation factor VIII gene. The identification and characterization of pathogenic mutations allows the recognition of new mechanisms of...
7.
Tavassoli K, Eigel A, Horst J
Hum Genet . 1999 Jul; 104(5):435-7. PMID: 10394938
A deletion/insertion in the human factor VIII gene was found in a patient with severe hemophilia A; 316 bp were removed, viz., those enclosing part of intron 15 and the...
8.
Horst B, Eigel A, Sanguansermsri T, Brinkmann B
Int J Legal Med . 1999 May; 112(3):211-2. PMID: 10335892
A north Thai Y-haplotype database consisting of the loci DYS19, DXYS156-Y, DYS390, DYS391, DYS392, DYS393, and the four subsegments of DYS389 is presented. We observed 44 Y-types in 50 unrelated...
9.
Dame C, Albers N, Hasan C, Bode U, Eigel A, Hansmann M, et al.
Eur J Pediatr . 1999 Mar; 158(3):217-20. PMID: 10094442
Unlabelled: Fetuses with homozygous alpha-thalassaemia develop Hb Bart's hydrops fetalis syndrome, which usually leads either to abortion or fetal/neonatal death. We report diagnosis, intrauterine transfusion therapy, neonatal intensive care management...
10.
Flatz G, Wilke K, Syagailo Y, Eigel A, Horst J
Hum Mutat . 1999 Mar; 13(3):258. PMID: 10090486
The beta-thalassemia mutations of 13 unrelated heterozygous Germans who remained unidentified in a previous study of 40 subjects were investigated at the DNA level. Two Mediterranean, one Asian and three...