Gene Expression Profile of Human Mesenchymal Stromal Cells Exposed to Hypoxic and Pseudohypoxic Preconditioning—An Analysis by RNA Sequencing

by Katarzyna Zielniok, Anna Burdzinska, Victor Murcia Pienkowski, Agnieszka Koppolu, Malgorzata Rydzanicz, Radoslaw Zagozdzon, Leszek Paczek
Published 2021-07-01

Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with <i>TMEM67</i> Mutations

by Agnieszka Stembalska, Małgorzata Rydzanicz, Agnieszka Pollak, Grazyna Kostrzewa, Piotr Stawinski, Mateusz Biela, Rafal Ploski, Robert Smigiel
Published 2021-07-01

Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus

by Justyna A. Karolak, Tomasz Gambin, Malgorzata Rydzanicz, Piotr Polakowski, Rafal Ploski, Jacek P. Szaflik, Marzena Gajecka
Published 2020-04-01

Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene

by Ryszard Slezak, Robert Smigiel, Malgorzata Rydzanicz, Agnieszka Pollak, Joanna Kosinska, Piotr Stawinski, Maria Malgorzata Sasiadek, Rafal Ploski
Published 2020-10-01

Clinico-pathological correlation in case of BRAT1 mutation

by Krystyna Szymańska, Milena Laure-Kamionowska, Krzysztof Szczałuba, Agnieszka Koppolu, Mariusz Furmanek, Katarzyna Kuśmierska, Snir Boniel, Rafał Płoski, Małgorzata Rydzanicz
Published 2018-12-01

Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors

by Tomasz M. Grzywa, Agnieszka A. Koppolu, Wiktor Paskal, Klaudia Klicka, Małgorzata Rydzanicz, Jarosław Wejman, Rafał Płoski, Paweł K. Włodarski
Published 2021-04-01

Characterization of Ocular Surface Microbial Profiles Revealed Discrepancies between Conjunctival and Corneal Microbiota

by Anna Matysiak, Michal Kabza, Justyna A. Karolak, Marcelina M. Jaworska, Malgorzata Rydzanicz, Rafal Ploski, Jacek P. Szaflik, Marzena Gajecka
Published 2021-03-01

The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the <i>UBE2A</i> and <i>CXorf56</i> Genes

by Ewelina Wolańska, Agnieszka Pollak, Małgorzata Rydzanicz, Karolina Pesz, Magdalena Kłaniewska, Anna Rozensztrauch, Paweł Skiba, Piotr Stawiński, Rafał Płoski, Robert Śmigiel
Published 2021-02-01

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the <i>WDR62</i> Gene

by Ryszard Slezak, Robert Smigiel, Ewa Obersztyn, Agnieszka Pollak, Mateusz Dawidziuk, Wojciech Wiszniewski, Monika Bekiesinska-Figatowska, Malgorzata Rydzanicz, Rafal Ploski, Pawel Gawlinski
Published 2021-04-01

Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants

by Justyna Paprocka, Magdalena Nowak, Maria Nieć, Izabela Janik, Małgorzata Rydzanicz, Śmigiel Robert, Magdalena Klaniewska, Karolina Rutkowska, Rafał Płoski, Aleksandra Jezela-Stanek
Published 2021-08-01

Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome

by Magdalena Machnikowska-Sokołowska, Jacek Pilch, Justyna Paprocka, Małgorzata Rydzanicz, Agnieszka Pollak, Joanna Kosińska, Piotr Gasperowicz, Katarzyna Gruszczyńska, Ewa Emich-Widera, Rafał Płoski
Published 2020-11-01

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

by Dorota Piekutowska-Abramczuk, Hanna Mierzewska, Monika Bekiesińska-Figatowska, Elżbieta Ciara, Joanna Trubicka, Maciej Pronicki, Dariusz Rokicki, Małgorzata Rydzanicz, Rafał Płoski, Ewa Pronicka
Published 2016-12-01

Brain Tissue Low-Level Mosaicism for <i>MTOR</i> Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affec...

by Krzysztof Szczałuba, Małgorzata Rydzanicz, Anna Walczak, Joanna Kosińska, Agnieszka Koppolu, Anna Biernacka, Katarzyna Iwanicka-Pronicka, Wiesława Grajkowska, Elżbieta Jurkiewicz, Paweł Kowalczyk, Rafał Płoski
Published 2021-07-01

Further evaluation of differential expression of keratoconus candidate genes in human corneas

by Justyna A. Karolak, Barbara Ginter-Matuszewska, Katarzyna Tomela, Michal Kabza, Dorota M. Nowak-Malczewska, Malgorzata Rydzanicz, Piotr Polakowski, Jacek P. Szaflik, Marzena Gajecka
Published 2020-08-01

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy – a case report and review of...

by Agnieszka A. Koppolu, Agnieszka Madej-Pilarczyk, Małgorzata Rydzanicz, Joanna Kosińska, Piotr Gasperowicz, Jolanta Dorszewska, Wojciech Kozubski, Barbara Steinborn, Andrzej M. Kochański, Rafał Płoski
Published 2017-09-01

Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene

by Magdalena Klaniewska, Maria Jedrzejowska, Malgorzata Rydzanicz, Justyna Paprocka, Mateusz Biela, Ewelina Wolanska, Agnieszka Pollak, Emilia Debek, Maria Sasiadek, Rafal Ploski, Monika Gos, Robert Smigiel
Published 2021-04-01

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

by Agnieszka Pollak, Urszula Lechowicz, Anna Kędra, Piotr Stawiński, Małgorzata Rydzanicz, Mariusz Furmanek, Małgorzata Brzozowska, Maciej Mrówka, Henryk Skarżyński, Piotr H Skarżyński, Monika Ołdak, Rafał Płoski
Published 2016-01-01

Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD)

by Dorota Wicher, Ryszard Grenda, Mikołaj Teisseyre, Marek Szymczak, Paulina Halat-Wolska, Dorota Jurkiewicz, Max Christoph Liebau, Elżbieta Ciara, Małgorzata Rydzanicz, Joanna Kosińska, Krystyna Chrzanowska, Irena Jankowska
Published 2020-11-01

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

Human Pegivirus in Patients with Encephalitis of Unclear Etiology, Poland

by Iwona Bukowska-Ośko, Karol Perlejewski, Agnieszka Pawełczyk, Małgorzata Rydzanicz, Agnieszka Pollak, Marta Popiel, Kamila Caraballo Cortés, Marcin Paciorek, Andrzej Horban, Tomasz Dzieciątkowski, Marek Radkowski, Tomasz Laskus
Published 2018-10-01