User profiles for "author:H Eiberg"
Hans EibergKřbenhavns universitet Verified email at sund.ku.dk Cited by 13378 |
The genetics of enuresis: a review
…, H Schaumburg, E Hollmann, H Eiberg… - The Journal of …, 2001 - Elsevier
PURPOSE: Formal studies of the genetics of enuresis have been performed since the 1930s
and molecular genetics since 1995, both highlighting the importance of hereditary factors in …
and molecular genetics since 1995, both highlighting the importance of hereditary factors in …
Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker
…, JC Braman, R Knowlton, JW Schumm, H Eiberg… - Science, 1985 - science.org
A polymorphic DNA marker has been found genetically linked, in a set of 39 human families,
to an autosomal recessive gene that causes cystic fibrosis (CF), a disease affecting one in …
to an autosomal recessive gene that causes cystic fibrosis (CF), a disease affecting one in …
Localization of cystic fibrosis locus to human chromosome 7cen–q22
…, EA Watson, HY Law, M Farrall, HJ Cooke, H Eiberg… - Nature, 1985 - nature.com
Cystic fibrosis (CF) is the most common genetic disease in Caucasian populations, with an
incidence of 1 in 2,000 live births in the United Kingdom, and a carrier frequency of …
incidence of 1 in 2,000 live births in the United Kingdom, and a carrier frequency of …
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 …
H Eiberg, J Troelsen, M Nielsen, A Mikkelsen… - Human genetics, 2008 - Springer
The human eye color is a quantitative trait displaying multifactorial inheritance. Several
studies have shown that the OCA2 locus is the major contributor to the human eye color …
studies have shown that the OCA2 locus is the major contributor to the human eye color …
Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract
L Bu, Y Jin, Y Shi, R Chu, A Ban, H Eiberg, L Andres… - Nature …, 2002 - nature.com
Abstract Congenital cataracts cause 10–30% of all blindness in children, with one-third of
cases estimated to have a genetic cause 1. Lamellar cataract is the most common type of …
cases estimated to have a genetic cause 1. Lamellar cataract is the most common type of …
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis
…, M Cerny, G Destro-Bisol, G Spedini, H Eiberg… - Nature …, 2006 - nature.com
Chronic pancreatitis is a common inflammatory disease of the pancreas. Mutations in the
genes encoding cationic trypsinogen (PRSS1) and the pancreatic secretory trypsin inhibitor …
genes encoding cationic trypsinogen (PRSS1) and the pancreatic secretory trypsin inhibitor …
[HTML][HTML] A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy
…, S Brooks, T Rosenberg, H Eiberg… - … & visual science, 2002 - iovs.arvojournals.org
purpose. To characterize the spectrum of mutations in the OPA1 gene in a large
international panel of patients with autosomal dominant optic atrophy (adOA), to improve …
international panel of patients with autosomal dominant optic atrophy (adOA), to improve …
[HTML][HTML] Blood-based biomarkers of age-associated epigenetic changes in human islets associate with insulin secretion and diabetes
Aging associates with impaired pancreatic islet function and increased type 2 diabetes
(T2D) risk. Here we examine whether age-related epigenetic changes affect human islet …
(T2D) risk. Here we examine whether age-related epigenetic changes affect human islet …
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation
Objective Benign familial infantile seizures (BFIS), paroxysmal kinesigenic dyskinesia
(PKD), and their combination—known as infantile convulsions and paroxysmal …
(PKD), and their combination—known as infantile convulsions and paroxysmal …
Assignment of dominant inherited nocturnal enuresis (ENUR1) to chromosome 13q
H Eiberg, I Berendt, J Mohr - Nature genetics, 1995 - nature.com
Nocturnal enuresis, or nightly bedwetting in children more than seven years of age affects
about 10% of seven-year-old children, with a wide range of frequencies between …
about 10% of seven-year-old children, with a wide range of frequencies between …