Sökning: "DiGeorge syndrome"

Hittade 4 avhandlingar innehållade orden DiGeorge syndrome.

1. 1. Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome

   Författare :Kiran K. Mantripragada; Jan P. Dumanski; Peter Lichter; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; array-CGH; neurofibromatoses; neurofibromatosis type 1; neurofibromatosis type 2; schwannomatosis; DiGeorge syndrome; 22q11 syndrome; chromosome 22; genomic microarrays; DNA copy number; Genetik; Clinical genetics; Klinisk genetik;

   Sammanfattning : Microarray-based comparative genomic hybridization (array-CGH) has emerged as a versatile platform with a wide range of applications in molecular genetics. This thesis focuses on the development of array-CGH with a specific aim to approach disease-related questions through improved strategies in array construction and enhanced resolution of analysis. LÄS MER

3. 2. Characterization of human chromosome 22 : cloning of breakpoints of the constitutional translocation t(11;22)(q23;q11) and detection of small constitutional delections by microarray CGH

   Författare :Isabel Tapia Paez; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Chromosome 22; t 11; 22 q23; q 11 ; inverted repeats palindromes; DiGeorge Velo-cardio-facial syndrome; array-CGH;

   Sammanfattning : Chromosome 22 is the second smallest human chromosome, composing approximately 1.5% of the genome. The short arm of this acrocentric chromosome harbors ribosomal genes and the long arm contains the protein coding genes. LÄS MER

4. 3. Newborn screening for severe primary immunodeficiencies

   Författare :Stephan Borte; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Primary immunodeficiencies (PID) are congenital disorders of immune competence, which are mainly characterized by a pathological susceptibility to infection. This is often accompanied by severe recurrent infections with drug-resistant, long progressions. LÄS MER

5. 4. Genetic studies in early embryos with emphasis on preimplantation genetic diagnosis

   Författare :Erik Iwarsson; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :chromosomal abnormality 1 embryo fluorescent in situ hybridisation FISH 1 in vitro fertilisation IVF 1 preimplantation genetic diagnosis PGD ;

   Sammanfattning : It has been estimated that as much as 70-80% of all human conceptions do not develop to term. A majority of clinically recognisable pregnancies, which are miscarried, contain chromosome abnormalities. However, data from very early embryo development are difficult to obtain. LÄS MER