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Projects / Programmes source: ARIS

Clinical and genetic analysis of incontinentia pigmenti

Research activity

Code Science Field Subfield
3.05.00  Medical sciences  Human reproduction   

Code Science Field
B007  Biomedical sciences  Medicine (human and vertebrates) 
B220  Biomedical sciences  Genetics, cytogenetics 
Keywords
incontinentia pigmenti, prevalence, CNS abnormalities, lethal mutations, Str mouse model, genetics
Evaluation (rules)
source: COBISS
Researchers (15)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  03897  MSc Marija Debevec  Human reproduction  Researcher  1997 - 1999  39 
2.  00814  PhD Ksenija Geršak  Human reproduction  Researcher  1997 - 1999  531 
3.  17632  Mojca Gorjanc    Researcher  1999 
4.  17634  Jelka Gregorič  Human reproduction  Researcher  1999  17 
5.  02698  PhD Milan Roman Gregorič  Neurobiology  Researcher  1998 - 1999  249 
6.  17635  Klementa Habjan    Researcher  1999 
7.  17638  Meta Kovačič Lužnik    Researcher  1999 
8.  16192  MSc Tomaž Milanez  Oncology  Researcher  1997 - 1999  70 
9.  09180  PhD David Neubauer  Oncology  Researcher  1997 - 1999  748 
10.  02748  Tatjana Perković  Microbiology and immunology  Researcher  1999  58 
11.  10458  PhD Borut Peterlin  Human reproduction  Head  1997 - 1999  854 
12.  10466  MSc Karmen Peterlin Potisk  Neurobiology  Researcher  1997 - 1999  45 
13.  14534  Mojca Pirc  Human reproduction  Researcher  1997 - 1999  23 
14.  13055  MSc Božena Podrumac  Microbiology and immunology  Researcher  1997 - 1999  43 
15.  17654  Milica Trenkić    Researcher  1999 
Organisations (3)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  0309  University Rehabilitation Institute, Republic of Slovenia  Ljubljana  5053919000  5,751 
2.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  77,480 
3.  0381  University of Ljubljana, Faculty of Medicine  Ljubljana  1627066  48,255 
Abstract
An epidemiological and neurological study of incontinentia pigmenti (IP) has been designed to test the hypotheses that the prevalence of the disease is higher, and the central nervous system (CNS) involvement significantly less frequent than previously thought. Obtained results would contribute to the understanding of reproductive pathology in mammals as well as the pathogenesis of IP, and ectodermal dysplasias in general. Dissection of male Str mouse embryos will be performed to get further insights in the mechanisms of lethality in mammals, and molecular genetic analysis of the Str - X chromosomal region will be conducted to narrow down the critical region of the gene.
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