Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

Equipment

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Identification on novel copy-number variations (CNVs) in patients affected by bilateral congenital limb malformations by means of high-resolution whole-genome array CGH

2011/03/D/NZ2/06136

Keywords:

clinical genetics medical genetics congenital limb malformations congenital limb defects etiopathogenesis of human genetic disorders molecular cytogenetics brachydactyly syndactyly polydactyly ectrodactyly genetic background

Descriptors:

  • NZ5_1: Etiology of human diseases
  • NZ5_3: Pathogenesis of human diseases
  • NZ2_1: Molecular genetics

Panel:

NZ2 - Genetics, genomics: molecular genetics, genomics, proteomics, bioinformatics, systems biology, genetic epidemiology

Host institution :

Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu, Wydział Lekarski I, Katedra i Zakład Genetyki Medycznej

woj. wielkopolskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr hab. Aleksander Jamsheer 

Number of co-investigators in the project: 3

Call: SONATA 2 - announced on 2011-09-15

Amount awarded: 1 000 000 PLN

Project start date (Y-m-d): 2012-09-12

Project end date (Y-m-d): 2015-09-11

Project duration:: 36 months (the same as in the proposal)

Project status: Project settled

Equipment purchased [PL]

  1. Termocykler w czasie Viaa 7 (205 000 PLN)
  2. komputer typu notebook (5 000 PLN)
  3. Zestaw do pipetowania (10 000 PLN)

Information in the final report

  • Publication in academic press/journals (11)
  1. Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5
    Authors:
    Aleksander Jamsheer, Robert Śmigiel, Aleksandra Jakubiak, Tomasz Zemojtel, Magdalena Socha, Peter N. Robinson, Stefan Mundlos
    Academic press:
    Birth Defects Researcg Part A (rok: 2014, tom: 100, strony: 314-318), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1002/bdra.23239/epdf - link to the publication
  2. Life‑threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes
    Authors:
    Katarzyna Iwanicka‑Pronicka, Magdalena Socha, Maria Jędrzejowska, Małgorzata Krajewska‑Walasek, Aleksander Jamsheer
    Academic press:
    SpringerPlus (rok: 2016, tom: 5, strony: 1638), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1186/s40064-016-3275-1 - link to the publication
  3. Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses
    Authors:
    Aleksander Jamsheer, Magdalena Socha, Anna Sowińska-Seidler, Kinga Telega, Tomasz Trzeciak, Anna Latos-Bieleńska
    Academic press:
    Journal of Applied Gentics (rok: 2014, tom: 1, strony: 45297), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s13353-014-0195-z - link to the publication
  4. Whole exome sequencing indentifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpals 4 / 5 fusion
    Authors:
    Aleksander Jamsheer, Tomasz Zemojtel, Mateusz Kolanczyk, Sigmar Stricker, Jochen Hecht, Peter Krawitz, Sandra Doelken, Renata Glazar, Magdalena Socha, Stefan Mundlos
    Academic press:
    Journal of Medical Genetics 2013 (rok: 2013, tom: 50, strony: 579-584), Wydawca: BMJ
    Status:
    Published
    DOI:
    10.1136/jmedgenet-2013-101659 - link to the publication
  5. Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3
    Authors:
    Aleksander Jamsheer, Anna Sowińska, Małgorzata Jamsheer-Bratkowska, Tomasz Trzeciak, Anna Latos-Bieleńska
    Academic press:
    BMC Medical Genetics (rok: 2013, tom: 14, strony: 14), Wydawca: BMC
    Status:
    Published
    DOI:
    10.1186/1471-2350-14-13 - link to the publication
  6. Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
    Authors:
    Naeimeh Tayebi*, Aleksander Jamsheer*, Ricarda Flöttmann*, Anna Sowinska-Seidler, Sandra C. Doelken, Barbara Oehl-Jaschkowitz, Wiebke Hülsemann, Rolf Habenicht, Eva Klopocki, Stefan Mundlos, Malte Spielmann
    Academic press:
    Orphanet Journal of Rare Diseases (rok: 2014, tom: 9, strony: 108), Wydawca: BMC
    Status:
    Published
    DOI:
    10.1186/s13023-014-0108-6 - link to the publication
  7. Split-hand/foot malformation - molecular cause and implications in genetic counseling
    Authors:
    Anna Sowińska-Seidler, Magdalena Socha, Aleksander Jamsheer
    Academic press:
    Journal of Applied Genetics (rok: 2014, tom: 55, strony: 105-115), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s13353-013-0178-5 - link to the publication
  8. Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene
    Authors:
    Aleksander Jamsheer, Anna Sowińska-Seidler, Ewelina Olech, Magdalena Socha, Kazimierz Kozłowski, Antoni Pyrkosz, Tomasz Trzeciak, Anna Materna-Kiryluk, Anna Latos-Bieleńska
    Academic press:
    Journal of Human Genetics (rok: 2016, tom: brak, strony: 45296), Wydawca: Nature
    Status:
    Published
    DOI:
    10.1038/jhg.2015.172 - link to the publication
  9. Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families
    Authors:
    Anna Sowińska-Seidler, Magdalena Badura-Stronka, Anna Latos-Bieleńska, Michał Stronka, Aleksander Jamsheer
    Academic press:
    Birth Defects Res A Clin Mol Teratol. (rok: 2014, tom: 100, strony: 764-771), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1002/bdra.23298 - link to the publication
  10. Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum
    Authors:
    Aleksander Jamsheer, Anna Sowińska-Seidler, Magdalena Socha, Agnieszka Stembalska, Cathy Kiraly-Borri, Anna Latos-Bieleńska
    Academic press:
    Gene (rok: 2014, tom: 539, strony: 157-161), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.gene.2014.01.066 - link to the publication
  11. Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene
    Authors:
    Anna Sowińska-Seidler, Monika Piwecka, Ewelina Olech, Magdalena Socha, Anna Latos-Bieleńska, Aleksander Jamsheer
    Academic press:
    Journal of Applied Genetics (rok: 2014, tom: 56(2), strony: 177-184), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s13353-014-0252-7 - link to the publication

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