DNA methylation as an epigenetic biomarker in imprinting disorders

by Dorota Jurkiewicz, Elżbieta Ciara, Małgorzata Krajewska-Walasek, Krystyna Chrzanowska
Published 2020-12-01

Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication

by Marzena Kucharczyk, Aleksandra Jezela-Stanek, Dorota Gieruszczak-Bialek, Monika Kugaudo, Agata Cieslikowska, Magdalena Pelc, Malgorzata Krajewska-Walasek
Published 2015-06-01

The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

by Aleksandra Jezela‐Stanek, Elżbieta Ciara, Dorota Jurkiewicz, Marzena Kucharczyk, Maria Jędrzejowska, Krystyna H. Chrzanowska, Małgorzata Krajewska‐Walasek, Tomasz Żemojtel
Published 2020-09-01

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

by Aleksandra Jezela-Stanek, Marzena Kucharczyk, Katarzyna Falana, Dorota Jurkiewicz, Marlena Mlynek, Dorota Wicher, Malgorzata Rydzanicz, Monika Kugaudo, Agata Cieslikowska, Elzbieta Ciara, Rafal Ploski, Malgorzata Krajewska-Walasek
Published 2016-03-01

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

by Joanna Trubicka, Tomasz Żemojtel, Jochen Hecht, Katarzyna Falana, Dorota Piekutowska- Abramczuk, Rafał Płoski, Marta Perek-Polnik, Monika Drogosiewicz, Wiesława Grajkowska, Elżbieta Ciara, Elżbieta Moszczyńska, Bożenna Dembowska-Bagińska, Danuta Perek, Krystyna H. Chrzanowska, Małgorzata Krajewska-Walasek, Maria Łastowska
Published 2017-04-01

Breakpoint Mapping of Symptomatic Balanced Translocations Links the <i>EPHA6</i>, <i>KLF13</i> and <i>UBR3</i> Genes to Novel Disease Phenotype

by Victor Murcia Pienkowski, Marzena Kucharczyk, Małgorzata Rydzanicz, Barbara Poszewiecka, Katarzyna Pachota, Marlena Młynek, Piotr Stawiński, Agnieszka Pollak, Joanna Kosińska, Katarzyna Wojciechowska, Monika Lejman, Agata Cieślikowska, Dorota Wicher, Agnieszka Stembalska, Karolina Matuszewska, Anna Materna-Kiryluk, Anna Gambin, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Rafał Płoski
Published 2020-04-01