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A NOVEL DE NOVO 20q13.11q13.12 MICRODELETION IN A BOY WITH NEURODEVELOPMENTAL DISORDERS − CASE REPORT.
Published in:
Developmental Period Medicine, 2017, v. 21, n. 2, p. 91
By:
- Bernaciak, Joanna;
- Wiśniowiecka-Kowalnik, Barbara;
- Castañeda, Jennifer;
- Kutkowska-Kaźmierczak, Anna;
- Nowakowska, Beata
Publication type:
Article
THE USEFULNESS OF ARRAY COMPARATIVE GENOMIC HYBRIDIZATION IN CLINICAL DIAGNOSTICS OF INTELLECTUAL DISABILITY IN CHILDREN.
Published in:
Developmental Period Medicine, 2014, v. 18, n. 3, p. 307
By:
- Bartnik, Magdalena;
- Wiśniowiecka-Kowalnik, Barbara;
- Nowakowska, Beata;
- Smyk, Marta;
- Kędzior, Marta;
- Sobecka, Katarzyna;
- Kutkowska-Kaźmierczak, Anna;
- Klapecki, Jakub;
- Szczałuba, Krzysztof;
- Castaneda, Jennifer;
- Własienko, Paweł;
- Bezniakow, Natalia;
- Obersztyn, Ewa;
- Bocian, Ewa
Publication type:
Article
GENETYCZNE UWARUNKOWANIA ZABURZEŃ AUTYSTYCZNYCH.
Published in:
Developmental Period Medicine, 2013, v. 17, n. 3, p. 207
By:
- Wiśniowiecka-Kowalnik, Barbara;
- Kastory-Bronowska, Monika;
- Stankiewicz, Paweł
Publication type:
Article
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
Application of Array Comparative Genomic Hybridization in 102 Patients With Epilepsy and Additional Neurodevelopmental Disorders.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2012, v. 159B, n. 7, p. 760, doi. 10.1002/ajmg.b.32081
By:
- Bartnik, Magdalena;
- Szczepanik, Elźbieta;
- Derwińska, Katarzyna;
- Wiśniowiecka-Kowalnik, Barbara;
- Gambin, Tomasz;
- Sykulski, Maciej;
- Ziemkiewicz, Kamila;
- Kędzior, Marta;
- Gos, Monika;
- Hoffman-Zacharska, Dorota;
- Mazurczak, Tomasz;
- Jeziorek, Anetta;
- Antczak-Marach, Dorota;
- Rudzka-Dybała, Mariola;
- Mazurkiewicz, Hanna;
- Goszczańska-Ciuchta, Alicja;
- Zalewska-Miszkurka, Zofia;
- Terczyńka, Iwona;
- Sobierajewicz, Małgorzata;
- Shaw, Chad A.
Publication type:
Article
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
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
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
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 19, p. 3579, doi. 10.1093/hmg/ddp306
By:
- Vissers, Lisenka E.L.M.;
- Bhatt, Samarth S.;
- Janssen, Irene M.;
- Xia, Zhilian;
- Lalani, Seema R.;
- Pfundt, Rolph;
- Derwinska, Katarzyna;
- de Vries, Bert B.A.;
- Gilissen, Christian;
- Hoischen, Alexander;
- Nesteruk, Monika;
- Wisniowiecka-Kowalnik, Barbara;
- Smyk, Marta;
- Brunner, Han G.;
- Cheung, Sau Wai;
- van Kessel, Ad Geurts;
- Veltman, Joris A.;
- Stankiewicz, Pawel
Publication type:
Article
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
Published in:
Genes, 2023, v. 14, n. 3, p. 680, doi. 10.3390/genes14030680
By:
- Smyk, Marta;
- Geremek, Maciej;
- Ziemkiewicz, Kamila;
- Gambin, Tomasz;
- Kutkowska-Kaźmierczak, Anna;
- Kowalczyk, Katarzyna;
- Plaskota, Izabela;
- Wiśniowiecka-Kowalnik, Barbara;
- Bartnik-Głaska, Magdalena;
- Niemiec, Magdalena;
- Grad, Dominika;
- Piotrowicz, Małgorzata;
- Gieruszczak-Białek, Dorota;
- Pietrzyk, Aleksandra;
- Crowley, T. Blaine;
- Giunta, Victoria;
- McGinn, Daniel E.;
- Zackai, Elaine H.;
- Tran, Oanh;
- Emanuel, Beverly S.
Publication type:
Article
Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies.
Published in:
Genes, 2022, v. 13, n. 4, p. 690, doi. 10.3390/genes13040690
By:
- Kowalczyk, Katarzyna;
- Bartnik-Głaska, Magdalena;
- Smyk, Marta;
- Plaskota, Izabela;
- Bernaciak, Joanna;
- Kędzior, Marta;
- Wiśniowiecka-Kowalnik, Barbara;
- Deperas, Marta;
- Domaradzka, Justyna;
- Łuszczek, Alicja;
- Dutkiewicz, Daria;
- Kozar, Agata;
- Grad, Dominika;
- Niemiec, Magdalena;
- Ziemkiewicz, Kamila;
- Magdziak, Róża;
- Braun-Walicka, Natalia;
- Barczyk, Artur;
- Geremek, Maciej;
- Castañeda, Jennifer
Publication type:
Article
Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities.
Published in:
Genes, 2021, v. 12, n. 12, p. 2021, doi. 10.3390/genes12122021
By:
- Kowalczyk, Katarzyna;
- Bartnik-Głaska, Magdalena;
- Smyk, Marta;
- Plaskota, Izabela;
- Bernaciak, Joanna;
- Kędzior, Marta;
- Wiśniowiecka-Kowalnik, Barbara;
- Jakubów-Durska, Krystyna;
- Braun-Walicka, Natalia;
- Barczyk, Artur;
- Geremek, Maciej;
- Castañeda, Jennifer;
- Kutkowska-Kaźmierczak, Anna;
- Własienko, Paweł;
- Dębska, Marzena;
- Kucińska-Chahwan, Anna;
- Roszkowski, Tomasz;
- Kozłowski, Szymon;
- Mikulska, Boyana;
- Issat, Tadeusz
Publication type:
Article
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.
Published in:
Genes, 2021, v. 12, n. 8, p. 1257, doi. 10.3390/genes12081257
By:
- Kutkowska-Kaźmierczak, Anna;
- Boczar, Maria;
- Kalka, Ewa;
- Castañeda, Jennifer;
- Klapecki, Jakub;
- Pietrzyk, Aleksandra;
- Barczyk, Artur;
- Malinowska, Olga;
- Landowska, Aleksandra;
- Gambin, Tomasz;
- Kowalczyk, Katarzyna;
- Wiśniowiecka-Kowalnik, Barbara;
- Smyk, Marta;
- Dawidziuk, Mateusz;
- Niepokój, Katarzyna;
- Paczkowska, Magdalena;
- Szyld, Paweł;
- Lipska-Ziętkiewicz, Beata;
- Szczałuba, Krzysztof;
- Kostyk, Ewa
Publication type:
Article

Found: 13