H
Hans Eiberg
Researcher at University of Copenhagen
Publications - 226
Citations - 10351
Hans Eiberg is an academic researcher from University of Copenhagen. The author has contributed to research in topics: Gene & Genetic linkage. The author has an hindex of 56, co-authored 224 publications receiving 9734 citations. Previous affiliations of Hans Eiberg include Steno Diabetes Center & Panum Institute.
Papers
More filters
Journal ArticleDOI
Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker
Lap-Chee Tsui,Manuel Buchwald,D. Barker,Jeffrey C. Braman,Robert G. Knowlton,James W. Schumm,Hans Eiberg,Jan Mohr,Dara Kennedy,Natasa Plavsic,Martha Zsiga,Danuta Markiewicz,Gita Akots,Valerie K. Brown,Cynthia Helms,Thomas C. Gravius,Carol A. Parker,Kenneth S. Rediker,Helen Donis-Keller +18 more
TL;DR: The discovery of a linked DNA polymorphism is the first step in molecular analysis of the CF gene and its causative role in the disease.
Journal ArticleDOI
Localization of cystic fibrosis locus to human chromosome 7cen–q22
Brandon J. Wainwright,Peter J. Scambler,Jörg Schmidtke,Eila Watson,H. Y. Law,Martin Farrall,Howard J. Cooke,Hans Eiberg,Robert Williamson +8 more
TL;DR: Tight linkage between the CF locus and an anonymous DNA probe, pJ3.11, which has been assigned to chromosome 7cen–q22 is reported, which is consistent with it being a recessive defect caused by a mutation at a single autosomal locus.
Journal ArticleDOI
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.
Hans Eiberg,Jesper T. Troelsen,Mette Olaf Nielsen,Annemette Mikkelsen,Jonas Mengel-From,Klaus W. Kjaer,Lars Hansen +6 more
TL;DR: The data suggest a common founder mutation in an OCA2 inhibiting regulatory element as the cause of blue eye color in humans, and an LOD score of Z = 4.21 between hair color and D14S72 was obtained in the large family, indicating that RABGGTA is a candidate gene for hair color.
Journal ArticleDOI
Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.
Lei Bu,Yiping Jin,Yuefeng Shi,Renyuan Chu,Airong Ban,Hans Eiberg,Lisa Andres,Haisong Jiang,Guangyong Zheng,Meiqian Qian,Bin Cui,Yu Xia,Jing Liu,Landian Hu,Guoping Zhao,Michael R. Hayden,Xiangyin Kong +16 more
TL;DR: Wang et al. as discussed by the authors carried out whole-genome linkage analysis of Chinese individuals with lamellar cataract, and found that the disorder is associated with inheritance of a 511-cM locus on chromosome 16.
Journal ArticleDOI
Linkage Studies of Cholestasis Familiaris Groenlandica/Byler-Like Disease with Polymorphic Protein and Blood Group Markers
Hans Eiberg,Inge-Merete Nielsen +1 more
TL;DR: Samples from 126 persons, from a large pedigree in East Greenland including 7 affected and from two families in West Greenland with a total of 3 affected children, have been collected for studying 45 polymorphic markers and for mapping the CFG disease.