Projects / Programmes source: ARIS

Clinical and genetic analysis of incontinentia pigmenti

Edit
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 (metodology)
source: COBISS
Evaluation of bibliographic research performance indicators according to ARIS methodology
Citations Citations for bibliographic records in COBIB.SI that are linked to records in citation databases
source: WoS source: Scopus source: COBISS
Organisations (3) , Researchers (15)
0309  University Rehabilitation Institute, Republic of Slovenia
no. Code Name and surname Research area Role Period No. of publications
1.  02698  PhD Milan Roman Gregorič  Neurobiology  Researcher  1998 - 1999  249 
2.  10466  MSc Karmen Peterlin Potisk  Neurobiology  Researcher  1997 - 1999  45 
0312  University Medical Centre Ljubljana
no. Code Name and surname Research area Role Period No. of publications
1.  03897  MSc Marija Debevec  Human reproduction  Researcher  1997 - 1999  39 
2.  00814  PhD Ksenija Geršak  Human reproduction  Researcher  1997 - 1999  546 
3.  17632  Mojca Gorjanc    Researcher  1999  0 
4.  17634  Jelka Gregorič  Human reproduction  Researcher  1999  20 
5.  17635  Klementa Habjan    Researcher  1999  3 
6.  17638  Meta Kovačič Lužnik    Researcher  1999  0 
7.  16192  MSc Tomaž Milanez  Oncology  Researcher  1997 - 1999  77 
8.  09180  PhD David Neubauer  Oncology  Researcher  1997 - 1999  763 
9.  10458  PhD Borut Peterlin  Human reproduction  Head  1997 - 1999  915 
10.  14534  Mojca Pirc  Human reproduction  Researcher  1997 - 1999  23 
11.  13055  MSc Božena Podrumac  Microbiology and immunology  Researcher  1997 - 1999  43 
12.  17654  Milica Trenkić    Researcher  1999  4 
0381  University of Ljubljana, Faculty of Medicine
no. Code Name and surname Research area Role Period No. of publications
1.  02748  Tatjana Perković  Microbiology and immunology  Researcher  1999  58 
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.
Confirmation required
Views history
Favourite