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Publication in academic press/journals (11)

1. 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 (year: 2014, volume: 56(2), pages: 177-184), Publisher: Springer

   Status:

   Published

   DOI:

   10.1007/s13353-014-0252-7 – link to the publication

2. 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 (year: 2014, volume: 9, pages: 108), Publisher: BMC

   Status:

   Published

   DOI:

   10.1186/s13023-014-0108-6 – link to the publication

3. 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 (year: 2016, volume: brak, pages: 46027), Publisher: Nature

   Status:

   Published

   DOI:

   10.1038/jhg.2015.172 – link to the publication

4. 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 (year: 2013, volume: 14, pages: 14), Publisher: BMC

   Status:

   Published

   DOI:

   10.1186/1471-2350-14-13 – link to the publication

5. 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 (year: 2016, volume: 5, pages: 1638), Publisher: Springer

   Status:

   Published

   DOI:

   10.1186/s40064-016-3275-1 – link to the publication

6. 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 (year: 2014, volume: 100, pages: 314-318), Publisher: Wiley

   Status:

   Published

   DOI:

   10.1002/bdra.23239/epdf – 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 (year: 2014, volume: 55, pages: 105-115), Publisher: Springer

   Status:

   Published

   DOI:

   10.1007/s13353-013-0178-5 – link to the publication

8. 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 (year: 2013, volume: 50, pages: 579-584), Publisher: BMJ

   Status:

   Published

   DOI:

   10.1136/jmedgenet-2013-101659 – 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. (year: 2014, volume: 100, pages: 764-771), Publisher: 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 (year: 2014, volume: 539, pages: 157-161), Publisher: Elsevier

    Status:

    Published

    DOI:

    10.1016/j.gene.2014.01.066 – link to the publication

11. 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 (year: 2014, volume: 1, pages: 46028), Publisher: Springer

    Status:

    Published

    DOI:

    10.1007/s13353-014-0195-z – link to the publication