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Information on the principal investigator and host institution

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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

Other projects carried out by the institution 

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)
  1. 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 (rok: 2016, tom: -, strony: -), Wydawca: Springer Nature
    Status:
    Published
    DOI:
    10.1186/s12882-016-0246-2 - link to the publication
  2. 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 (rok: 2016, tom: -, strony: 45297), Wydawca: Springer Nature
    Status:
    Published
    DOI:
    10.1007/s13353-016-0366-1 - link to the publication
  3. 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 (rok: 2016, tom: 17, strony: 153-9), Wydawca: John Wiley & Sons A/S
    Status:
    Published
    DOI:
    10.1111/pedi.12235 - link to the publication
  4. Mild phenotype of a large partial 13q trisomy
    Authors:
    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 & Wilkins
    Status:
    Published
    DOI:
    10.1097/MCD.0000000000000052. - link to the publication

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