Split-hand/foot malformation - molecular cause and implications in genetic counseling

por Sowińska-Seidler, Anna, Socha, Magdalena, Jamsheer, Aleksander
Publicado 2013

SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably

por Bukowska-Olech, Ewelina, Sowińska-Seidler, Anna, Wierzba, Jolanta, Jamsheer, Aleksander
Publicado 2022

A genotype–phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus

por Sowińska-Seidler, Anna, Socha, Magdalena, Szoszkiewicz, Anna, Materna-Kiryluk, Anna, Jamsheer, Aleksander
Publicado 2023

Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

por Sowińska-Seidler, Anna, Olech, Ewelina M., Socha, Magdalena, Larysz, Dawid, Jamsheer, Aleksander
Publicado 2018

Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

por Sowińska-Seidler, Anna, Olech, Ewelina M., Socha, Magdalena, Larysz, Dawid, Jamsheer, Aleksander
Publicado 2018

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses

por Jamsheer, Aleksander, Socha, Magdalena, Sowińska-Seidler, Anna, Telega, Kinga, Trzeciak, Tomasz, Latos-Bieleńska, Anna
Publicado 2014

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

por Sowińska-Seidler, Anna, Piwecka, Monika, Olech, Ewelina, Socha, Magdalena, Latos-Bieleńska, Anna, Jamsheer, Aleksander
Publicado 2014

Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS

por Skorczyk-Werner, Anna, Sowińska-Seidler, Anna, Wawrocka, Anna, Walczak-Sztulpa, Joanna, Krawczyński, Maciej Robert
Publicado 2022

Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

por Bukowska-Olech, Ewelina, Sowińska-Seidler, Anna, Łojek, Filip, Popiel, Delfina, Walczak-Sztulpa, Joanna, Jamsheer, Aleksander
Publicado 2020

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes

por Rojek, Aleksandra, Krawczynski, Maciej R., Jamsheer, Aleksander, Sowinska-Seidler, Anna, Iwaniszewska, Barbara, Malunowicz, Ewa, Niedziela, Marek
Publicado 2016

Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature

por Szczawińska-Popłonyk, Aleksandra, Popłonyk, Natalia, Niedziela, Marek, Sowińska-Seidler, Anna, Sztromwasser, Paweł, Jamsheer, Aleksander, Obara-Moszyńska, Monika
Publicado 2022

The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings

por Sowińska-Seidler, Anna, Sztromwasser, Paweł, Zawadzka, Katarzyna, Sielski, Dawid, Bukowska-Olech, Ewelina, Zawadzki, Paweł, Kozłowski, Kazimierz, Jamsheer, Aleksander
Publicado 2020

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis

por Bukowska-Olech, Ewelina, Popiel, Delfina, Koczyk, Grzegorz, Sowińska-Seidler, Anna, Socha, Magdalena, Wojciechowicz, Bartosz, Dawidziuk, Adam, Larysz, Dawid, Jamsheer, Aleksander
Publicado 2020

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

por Tayebi, Naeimeh, Jamsheer, Aleksander, Flöttmann, Ricarda, Sowinska-Seidler, Anna, Doelken, Sandra C, Oehl-Jaschkowitz, Barbara, Hülsemann, Wiebke, Habenicht, Rolf, Klopocki, Eva, Mundlos, Stefan, Spielmann, Malte
Publicado 2014

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects

por Bukowska-Olech, Ewelina, Sowińska-Seidler, Anna, Larysz, Dawid, Gawliński, Paweł, Koczyk, Grzegorz, Popiel, Delfina, Gurba-Bryśkiewicz, Lidia, Materna-Kiryluk, Anna, Adamek, Zuzanna, Szczepankiewicz, Aleksandra, Dominiak, Paweł, Glista, Filip, Matuszewska, Karolina, Jamsheer, Aleksander
Publicado 2022

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

por Walczak-Sztulpa, Joanna, Wawrocka, Anna, Doornbos, Cenna, van Beek, Ronald, Sowińska-Seidler, Anna, Jamsheer, Aleksander, Bukowska-Olech, Ewelina, Latos-Bieleńska, Anna, Grenda, Ryszard, Bongers, Ernie M. H. F., Schmidts, Miriam, Obersztyn, Ewa, Krawczyński, Maciej R., Oud, Machteld M.
Publicado 2022