Projects funded by the NCN
Clinical, molecular and cytogenetic evaluation of genome imbalances in patients with clinical features of microdeletion 22q11.2 syndrome and negative result of standard cytogenetic analyses (karyotyping and FISH for 22q11.2) using microarray - CGH.
2011/01/D/NZ2/01600
Keywords:
microarray-CGH di George syndrome microdeletion 22q11.2 CATCH22
Descriptors:
- NZ2_5: Cell genetics
- NZ2_1: Molecular genetics
Panel:
NZ2 - Genetics, genomics: molecular genetics, genomics, proteomics, bioinformatics, systems biology, genetic epidemiology
Host institution :
Gdański Uniwersytet Medyczny, Wydział Lekarski
woj. pomorskie
Principal investigator (from the host institution):
dr hab. Beata Lipska-Ziętkiewicz
Number of co-investigators in the project: 4
Call: SONATA 1 - announced on 2011-03-15
Amount awarded: 266 500 PLN
Project start date (Y-m-d): 2011-12-07
Project end date (Y-m-d): 2015-12-06
Project duration:: 48 months (the same as in the proposal)
Project status: Project settled
Information in the final report
- Publication in academic press/journals (4)
- Glomerulopathy in patients with distal duplication of chromosome 6pAuthors:Augustina Jankauskienė, Magdalena Koczkowska, Anna Bjerre, Joanna Bernaciak, Franz Schaefer, Beata S. Lipska-ZiętkiewiczAcademic press:BMC Nephrology (rok: 2016, tom: -, strony: -), Wydawca: Springer NatureStatus:PublishedDOI:10.1186/s12882-016-0246-2 - link to the publication
- Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndromeAuthors:Magdalena Koczkowska, Jolanta Wierzba, Robert Śmigiel, Maria Sąsiadek, Magdalena Cabała, Ryszard Ślężak, Mariola Iliszko, Iwona Kardaś, Janusz Limon, Beata S. Lipska-ZiętkiewiczAcademic press:Journal of Applied Genetics (rok: 2016, tom: -, strony: 45297), Wydawca: Springer NatureStatus:PublishedDOI:10.1007/s13353-016-0366-1 - link to the publication
- 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiencyAuthors:Hogendorf A, Lipska-Zietkiewicz BS, Szadkowska A, Borowiec M, Koczkowska M, Trzonkowski P, Drozdz I, Wyka K, Limon J, Mlynarski W.Academic press:Pediatric Diabetes (rok: 2016, tom: 17, strony: 153-9), Wydawca: John Wiley & Sons A/SStatus:PublishedDOI:10.1111/pedi.12235 - link to the publication
- Mild phenotype of a large partial 13q trisomyAuthors:Krygier M, Lipska-Zietkiewicz BS, Koczkowska M, Wierzba J, Limon J.Academic press:Clinical Dysmorphology (rok: 2014, tom: 23, strony: 155-157), Wydawca: Wolters Kluwer Lippincott Wiliams & WilkinsStatus:PublishedDOI:10.1097/MCD.0000000000000052. - link to the publication