Works by Obersztyn, Ewa

Results: 33
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    DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1473, doi. 10.1038/ejhg.2015.71
    By:
    • Ji, Jianling;
    • Lee, Hane;
    • Argiropoulos, Bob;
    • Dorrani, Naghmeh;
    • Mann, John;
    • Martinez-Agosto, Julian A;
    • Gomez-Ospina, Natalia;
    • Gallant, Natalie;
    • Bernstein, Jonathan A;
    • Hudgins, Louanne;
    • Slattery, Leah;
    • Isidor, Bertrand;
    • Le Caignec, Cédric;
    • David, Albert;
    • Obersztyn, Ewa;
    • Wiśniowiecka-Kowalnik, Barbara;
    • Fox, Michelle;
    • Deignan, Joshua L;
    • Vilain, Eric;
    • Hendricks, Emily
    Publication type:
    Article
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    Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 6, p. 620, doi. 10.1038/ejhg.2012.219
    By:
    • Wiśniowiecka-Kowalnik, Barbara;
    • Kastory-Bronowska, Monika;
    • Bartnik, Magdalena;
    • Derwińska, Katarzyna;
    • Dymczak-Domini, Wanda;
    • Szumbarska, Dorota;
    • Ziemka, Ewa;
    • Szczałuba, Krzysztof;
    • Sykulski, Maciej;
    • Gambin, Tomasz;
    • Gambin, Anna;
    • Shaw, Chad A;
    • Mazurczak, Tadeusz;
    • Obersztyn, Ewa;
    • Bocian, Ewa;
    • Stankiewicz, Paweł
    Publication type:
    Article
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    Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss.

    Published in:
    Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 2, p. 357, doi. 10.1007/s10815-022-02400-8
    By:
    • Kowalczyk, Katarzyna;
    • Smyk, Marta;
    • Bartnik-Głaska, Magdalena;
    • Plaskota, Izabela;
    • Wiśniowiecka-Kowalnik, Barbara;
    • Bernaciak, Joanna;
    • Chojnacka, Marta;
    • Paczkowska, Magdalena;
    • Niemiec, Magdalena;
    • Dutkiewicz, Daria;
    • Kozar, Agata;
    • Magdziak, Róża;
    • Krawczyk, Wojciech;
    • Pietras, Grzegorz;
    • Michalak, Elżbieta;
    • Klepacka, Teresa;
    • Obersztyn, Ewa;
    • Bal, Jerzy;
    • Nowakowska, Beata Anna
    Publication type:
    Article
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    Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 12, p. 2188, doi. 10.1093/hmg/ddp151
    By:
    • Carvalho, Claudia M.B.;
    • Zhang, Feng;
    • Liu, Pengfei;
    • Patel, Ankita;
    • Sahoo, Trilochan;
    • Bacino, Carlos A.;
    • Shaw, Chad;
    • Peacock, Sandra;
    • Pursley, Amber;
    • Tavyev, Y. Jane;
    • Ramocki, Melissa B.;
    • Nawara, Magdalena;
    • Obersztyn, Ewa;
    • Vianna-Morgante, Angela M.;
    • Stankiewicz, Pawel;
    • Zoghbi, Huda Y.;
    • Cheung, Sau Wai;
    • Lupski, James R.
    Publication type:
    Article
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    ASSESSMENT OF THE ROLE OF COPY-NUMBER VARIANTS IN 150 PATIENTS WITH CONGENITAL HEART DEFECTS.

    Published in:
    Developmental Period Medicine, 2012, v. 16, n. 3, p. 175
    By:
    • Derwińska, Katarzyna;
    • Bartnik, Magdalena;
    • Wiśniowiecka-Kowalnik, Barbara;
    • Jagła, Mateusz;
    • Rudziński, Andrzej;
    • Pietrzyk, Jacek J.;
    • Kawalec, Wanda;
    • Ziółkowska, Lidia;
    • Kutkowska-Kaźmierczak, Anna;
    • Gambin, Tomasz;
    • Sykulski, Maciej;
    • Shaw, Chad A.;
    • Gambin, Anna;
    • Mazurczak, Tadeusz;
    • Obersztyn, Ewa;
    • Bocian, Ewa;
    • Stankiewicz, Paweł;
    • Maciejewski, T.;
    • Musioł, K.;
    • Piróg, M.
    Publication type:
    Article
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    The mutational spectrum in Waardenburg syndrome.

    Published in:
    Human Molecular Genetics, 1995, v. 4, n. 11, p. 2131
    By:
    • Tassabehji, Mayada;
    • Newton, Valerie E.;
    • Liu, Xue-Zhong;
    • Brady, Angela;
    • Donnai, Dian;
    • Krajewska-Walasek, Malgorzata;
    • Murday, Victoria;
    • Norman, Andrew;
    • Obersztyn, Ewa;
    • Reardon, William;
    • Rice, John C.;
    • Trembath, Richard;
    • Wieacker, Peter;
    • Whiteford, Margo;
    • Winter, Robin;
    • Read, Andrew P.
    Publication type:
    Article
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    Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.

    Published in:
    Genes, 2022, v. 13, n. 5, p. 724, doi. 10.3390/genes13050724
    By:
    • Kucińska-Chahwan, Anna;
    • Geremek, Maciej;
    • Roszkowski, Tomasz;
    • Bijok, Julia;
    • Massalska, Diana;
    • Ciebiera, Michał;
    • Correia, Hildeberto;
    • Pereira-Caetano, Iris;
    • Barreta, Ana;
    • Obersztyn, Ewa;
    • Kutkowska-Kaźmierczak, Anna;
    • Własienko, Paweł;
    • Krajewska-Walasek, Małgorzata;
    • Węgrzyn, Piotr;
    • Dudarewicz, Lech;
    • Krzeszowski, Waldemar;
    • Rybak-Krzyszkowska, Magda;
    • Nowakowska, Beata
    Publication type:
    Article
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    Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1195, doi. 10.1002/ajmg.a.62067
    By:
    • Walczak-Sztulpa, Joanna;
    • Wawrocka, Anna;
    • Sta(nczyk, Małgorzata;
    • Pesz, Karolina;
    • Dudarewicz, Lech;
    • Chrul, Sławomir;
    • Bukowska-Olech, Ewelina;
    • Wieczorek-Cichecka, Nina;
    • Arts, Heleen H.;
    • Oud, Machteld M.;
    • Śmigiel, Robert;
    • Grenda, Ryszard;
    • Obersztyn, Ewa;
    • Chrzanowska, Krystyna H.;
    • Latos-Biele(nska, Anna
    Publication type:
    Article
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    Expanding the phenotype associated with missense mutations of the ARX gene.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1813, doi. 10.1002/ajmg.a.36003
    By:
    • Charzewska, Agnieszka;
    • Nawara, Magdalena;
    • Jakubiuk‐Tomaszuk, Anna;
    • Obersztyn, Ewa;
    • Hoffman‐Zacharska, Dorota;
    • Elert, Ewelina;
    • Jurek, Marta;
    • Bartnik, Magdalena;
    • Poznański, Jarosław;
    • Bal, Jerzy
    Publication type:
    Article
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    Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis.

    Published in:
    Genes, 2023, v. 14, n. 3, p. 563, doi. 10.3390/genes14030563
    By:
    • Bzdęga, Katarzyna;
    • Kutkowska-Kaźmierczak, Anna;
    • Deutsch, Gail H.;
    • Plaskota, Izabela;
    • Smyk, Marta;
    • Niemiec, Magdalena;
    • Barczyk, Artur;
    • Obersztyn, Ewa;
    • Modzelewski, Jan;
    • Lipska, Iwona;
    • Stankiewicz, Paweł;
    • Gajecka, Marzena;
    • Rydzanicz, Małgorzata;
    • Płoski, Rafał;
    • Szczapa, Tomasz;
    • Karolak, Justyna A.
    Publication type:
    Article