Sökning: "ectodermal dysplasia"

Hittade 2 avhandlingar innehållade orden ectodermal dysplasia.

1. 1. Oligodontia and ectodermal dysplasia : on signs, symptoms, genetics and outcomes of dental treatment

   Författare :Birgitta Bergendal; Christina Stecksén-Blicks; Margareta Molin Thorén; Göran Dahllöf; Umeå universitet; []
   Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Tooth agenesis; oligodontia; ectodermal dysplasia; orofacial function; dental implants; EDARADD; Paedodontics; Pedodonti; odontologi; Odontology;

   Sammanfattning : The general aim of this thesis was to broaden our knowledge of the signs and symptoms, genetics, and outcomes of dental implant treatment in individuals with oligodontia or ectodermal dysplasia. Article I is a population-based study in three Swedish counties of 162 individuals with oligodontia, which was a prevalence of 0.09%. LÄS MER

3. 2. Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling

   Författare :Doroteya Raykova; Niklas Dahl; Ann Nordgren; Uppsala universitet; []
   Nyckelord :NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; Disease modeling; Mendelian disorders; iPSC; Whole exome sequencing; Transcriptome sequencing; Medical Science; Medicinsk vetenskap;

   Sammanfattning : Novel technologies for genome analysis have provided almost unlimited opportunities to uncover structural gene variants behind human disorders. Whole exome sequencing (WES) is especially useful for understanding rare Mendelian conditions, because it reduces the requirements for a priori clinical data, and can be applied on a small number of patients. LÄS MER