DNA sequencing technologies have developed quickly in the last decade, and new methodologies have moved into clinical practice. These can been used to investigate genetic causes of neonatal cholestasis. Neonatal cholestasis can be life-threatening and has a varied etiology. In chapter 3, a targeted next generation sequencing (tNGS) assay was designed and assessed for suitability for detection of known mutations in genes associated with cholestasis. In chapter 4, this was used to screen over 200 infants presenting with liver disease for mutations in the (ATP8B1), (ABCB11), (ABCB4), (NPC1), (NPC2) and (SLC25A13) genes. Diagnoses were made in 9% and single heterozygous mutations were in 9% of cases. In chapter 5, patients suspected o...
Development of the human heart is a complex process controlled by multiple genes (in interacting pat...
OBJECTIVES: The aim of the study was to estimate the frequency of ABCB4 mutations among children wit...
Background and aims: The aim of this study was to investigate the genetic aetiology of intrahepatic ...
Many inherited conditions cause cholestasis in the neonate or infant. Next-generation sequencing met...
Many inherited conditions cause cholestasis in the neonate or infant. Next-generation sequencing me...
Liver disease in children is rare but often serious, life long, and in many cases leads to death. Ad...
OBJECTIVE: To use next generation sequencing (NGS) technology to identify undiagnosed, monogenic dis...
The bile duct development may not be fully completed at birth, and this is quite a common event. Mor...
OBJECTIVES: Cholestasis is caused by a wide variety of etiologies, often genetic in origin. Broad ov...
SummaryParalleling the first 30years of the Journal of Hepatology we have witnessed huge advances in...
BACKGROUND: Cholestasis is a frequent and severe condition during childhood. Genetic cholestatic dis...
Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic cholestatic liver ...
The biliary system facilitates transport of bile from the liver, where it is produced, to the gall b...
Biliary atresia is a common form of paediatric liver disease, with progressive, inflammatory obliter...
Since the human genome project was completed in 2003, extraordinary progress has been made in the fi...
Development of the human heart is a complex process controlled by multiple genes (in interacting pat...
OBJECTIVES: The aim of the study was to estimate the frequency of ABCB4 mutations among children wit...
Background and aims: The aim of this study was to investigate the genetic aetiology of intrahepatic ...
Many inherited conditions cause cholestasis in the neonate or infant. Next-generation sequencing met...
Many inherited conditions cause cholestasis in the neonate or infant. Next-generation sequencing me...
Liver disease in children is rare but often serious, life long, and in many cases leads to death. Ad...
OBJECTIVE: To use next generation sequencing (NGS) technology to identify undiagnosed, monogenic dis...
The bile duct development may not be fully completed at birth, and this is quite a common event. Mor...
OBJECTIVES: Cholestasis is caused by a wide variety of etiologies, often genetic in origin. Broad ov...
SummaryParalleling the first 30years of the Journal of Hepatology we have witnessed huge advances in...
BACKGROUND: Cholestasis is a frequent and severe condition during childhood. Genetic cholestatic dis...
Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic cholestatic liver ...
The biliary system facilitates transport of bile from the liver, where it is produced, to the gall b...
Biliary atresia is a common form of paediatric liver disease, with progressive, inflammatory obliter...
Since the human genome project was completed in 2003, extraordinary progress has been made in the fi...
Development of the human heart is a complex process controlled by multiple genes (in interacting pat...
OBJECTIVES: The aim of the study was to estimate the frequency of ABCB4 mutations among children wit...
Background and aims: The aim of this study was to investigate the genetic aetiology of intrahepatic ...