Screening of insulin (INS) gene in permanent neonatal diabetes during the first year of life /
Aisha Omar Mohamed Atef Tolba
Screening of insulin (INS) gene in permanent neonatal diabetes during the first year of life / فحص چين الأنسولين في داء السكرى الدائم لحديثي الولادة خلال السنة الأولي من الحياة Aisha Omar Mohamed Atef Tolba ; Supervised Nadida Abdelhamid Gohar , Walaa Ahmed Mohamed Rabie , Marwa Farouk Mira - Cairo : Aisha Omar Mohamed Atef Tolba , 2014 - 117 P. : charts , facsimiles ; 25cm
Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology
Background: Permanent neonatal diabetes (PND) is a monogenic form of diabetes resulting from mutations in a number of different genes encoding proteins that play a key role in the normal function of the pancreatic beta-cell. A correct genetic diagnosis can affect treatment and clinical outcome. Mutations in the insulin gene (INS) itself have been identified as a cause of neonatal diabetes. This study aimed to investigate the genetic variations in the coding region and intronic boundaries of INS gene and their genotype phenotype correlation in a group of Egyptian PNDM infants with onset in the first 12 months of age. Conclusion: Genetic screening for the INS gene did not reveal any evident role in diagnosis of PNDM among the studied group of Egyptian children
DNA sequencing INS Permanent neonatal diabetes (PND)
Screening of insulin (INS) gene in permanent neonatal diabetes during the first year of life / فحص چين الأنسولين في داء السكرى الدائم لحديثي الولادة خلال السنة الأولي من الحياة Aisha Omar Mohamed Atef Tolba ; Supervised Nadida Abdelhamid Gohar , Walaa Ahmed Mohamed Rabie , Marwa Farouk Mira - Cairo : Aisha Omar Mohamed Atef Tolba , 2014 - 117 P. : charts , facsimiles ; 25cm
Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology
Background: Permanent neonatal diabetes (PND) is a monogenic form of diabetes resulting from mutations in a number of different genes encoding proteins that play a key role in the normal function of the pancreatic beta-cell. A correct genetic diagnosis can affect treatment and clinical outcome. Mutations in the insulin gene (INS) itself have been identified as a cause of neonatal diabetes. This study aimed to investigate the genetic variations in the coding region and intronic boundaries of INS gene and their genotype phenotype correlation in a group of Egyptian PNDM infants with onset in the first 12 months of age. Conclusion: Genetic screening for the INS gene did not reveal any evident role in diagnosis of PNDM among the studied group of Egyptian children
DNA sequencing INS Permanent neonatal diabetes (PND)