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
Descriptors
- NZ2_5: Cytogenetyka
- NZ2_1: Genetyka molekularna
Panel
NZ2 – Genetics, genomics: molecular genetics, genomics, proteomics, bioinformatics, systems biology, genetic epidemiology
Host institution
Gdański Uniwersytet Medyczny, Wydział Lekarski
Voivodeship: pomorskie
Principal investigator (from the host institution)
dr hab. Beata Stefania 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
- 2011-12-07
- Project end date
- 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 6p
- Authors:
- Augustina Jankauskienė, Magdalena Koczkowska, Anna Bjerre, Joanna Bernaciak, Franz Schaefer, Beata S. Lipska-Ziętkiewicz
- Academic press:
- BMC Nephrology (year: 2016, volume: -, pages: -), Publisher: Springer Nature
- Status:
- Published
- DOI:
- 10.1186/s12882-016-0246-2 – link to the publication
-
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome
- Authors:
- Magdalena Koczkowska, Jolanta Wierzba, Robert Śmigiel, Maria Sąsiadek, Magdalena Cabała, Ryszard Ślężak, Mariola Iliszko, Iwona Kardaś, Janusz Limon, Beata S. Lipska-Ziętkiewicz
- Academic press:
- Journal of Applied Genetics (year: 2016, volume: -, pages: 46028), Publisher: Springer Nature
- Status:
- Published
- DOI:
- 10.1007/s13353-016-0366-1 – link to the publication
-
18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency
- Authors:
- 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 (year: 2016, volume: 17, pages: 153-9), Publisher: John Wiley & Sons A/S
- Status:
- Published
- DOI:
- 10.1111/pedi.12235 – link to the publication
-
Mild phenotype of a large partial 13q trisomy
- Authors:
- Krygier M, Lipska-Zietkiewicz BS, Koczkowska M, Wierzba J, Limon J.
- Academic press:
- Clinical Dysmorphology (year: 2014, volume: 23, pages: 155-157), Publisher: Wolters Kluwer Lippincott Wiliams & Wilkins
- Status:
- Published
- DOI:
- 10.1097/MCD.0000000000000052. – link to the publication