Frequency of thrombophilia associated genes variants: population-based study

by Natalia Wawrusiewicz-Kurylonek, Adam Jacek Krętowski, Renata Posmyk
Published 2020-10-01

Pharmacogenomics, How to Deal with Different Types of Variants in Next Generation Sequencing Data in the Personalized Medicine Area

by Alireza Tafazoli, Natalia Wawrusiewicz-Kurylonek, Renata Posmyk, Wojciech Miltyk
Published 2020-12-01

Salivary Gland Function, Antioxidant Defence and Oxidative Damage in the Saliva of Patients with Breast Cancer: Does the <i>BRCA1</i> Mutation Disturb the Salivary Redox Profile?

by Beata Sawczuk, Mateusz Maciejczyk, Magdalena Sawczuk-Siemieniuk, Renata Posmyk, Anna Zalewska, Halina Car
Published 2019-10-01

Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population

by Monika Chorąży, Natalia Wawrusiewicz-Kurylonek, Edyta Adamska-Patruno, Olga Zajkowska, Katarzyna Kapica-Topczewska, Renata Posmyk, Adam Jacek Krętowski, Jan Kochanowicz, Alina Kułakowska
Published 2020-01-01

Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

by Alina Filatova, Linda K. Rey, Marion B. Lechler, Jörg Schaper, Maja Hempel, Renata Posmyk, Krzysztof Szczaluba, Gijs W. E. Santen, Dagmar Wieczorek, Ulrike A. Nuber
Published 2019-07-01

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

by Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska
Published 2020-02-01

Variants of Novel Immunomodulatory Fc Receptor Like 5 Gene Are Associated With Multiple Sclerosis Susceptibility in the Polish Population

by Monika Chorazy, Natalia Wawrusiewicz-Kurylonek, Natalia Wawrusiewicz-Kurylonek, Edyta Adamska-Patruno, Agata Czarnowska, Olga Zajkowska, Katarzyna Kapica-Topczewska, Renata Posmyk, Adam Jacek Kretowski, Adam Jacek Kretowski, Jan Kochanowicz, Alina Kułakowska
Published 2021-04-01

Zinc and Its Antioxidant Properties: The Potential Use of Blood Zinc Levels as a Marker of Cancer Risk in BRCA1 Mutation Carriers

by Milena Matuszczak, Adam Kiljańczyk, Wojciech Marciniak, Róża Derkacz, Klaudia Stempa, Piotr Baszuk, Marta Bryśkiewicz, Ping Sun, Angela Cheriyan, Cezary Cybulski, Tadeusz Dębniak, Jacek Gronwald, Tomasz Huzarski, Marcin R. Lener, Anna Jakubowska, Marek Szwiec, Małgorzata Stawicka-Niełacna, Dariusz Godlewski, Artur Prusaczyk, Andrzej Jasiewicz, Tomasz Kluz, Joanna Tomiczek-Szwiec, Ewa Kilar-Kobierzycka, Monika Siołek, Rafał Wiśniowski, Renata Posmyk, Joanna Jarkiewicz-Tretyn, Rodney J. Scott, Steven A. Narod, Jan Lubiński
Published 2024-05-01

Blood Iodine as a Potential Marker of the Risk of Cancer in BRCA1 Carriers

by Adam Kiljańczyk, Milena Matuszczak, Wojciech Marciniak, Róża Derkacz, Klaudia Stempa, Piotr Baszuk, Marta Bryśkiewicz, Cezary Cybulski, Tadeusz Dębniak, Jacek Gronwald, Tomasz Huzarski, Marcin R. Lener, Anna Jakubowska, Angela Cheriyan, Marek Szwiec, Małgorzata Stawicka-Niełacna, Dariusz Godlewski, Artur Prusaczyk, Andrzej Jasiewicz, Tomasz Kluz, Joanna Tomiczek-Szwiec, Ewa Kilar-Kobierzycka, Monika Siołek, Rafał Wiśniowski, Renata Posmyk, Joanna Jarkiewicz-Tretyn, Ping Sun, Rodney J. Scott, Steven A. Narod, Jan Lubiński
Published 2024-06-01

Blood Lead Level as Marker of Increased Risk of Ovarian Cancer in BRCA1 Carriers

by Adam Kiljańczyk, Milena Matuszczak, Wojciech Marciniak, Róża Derkacz, Klaudia Stempa, Piotr Baszuk, Marta Bryśkiewicz, Krzysztof Lubiński, Cezary Cybulski, Tadeusz Dębniak, Jacek Gronwald, Tomasz Huzarski, Marcin R. Lener, Anna Jakubowska, Marek Szwiec, Małgorzata Stawicka-Niełacna, Dariusz Godlewski, Artur Prusaczyk, Andrzej Jasiewicz, Tomasz Kluz, Joanna Tomiczek-Szwiec, Ewa Kilar-Kobierzycka, Monika Siołek, Rafał Wiśniowski, Renata Posmyk, Joanna Jarkiewicz-Tretyn, Ping Sun, Rodney J. Scott, Steven A. Narod, Jan Lubiński
Published 2024-04-01

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

by Mateusz Dawidziuk, Tomasz Gambin, Ewelina Bukowska-Olech, Dorota Antczak-Marach, Magdalena Badura-Stronka, Piotr Buda, Edyta Budzynska, Jennifer Castaneda, Tatiana Chilarska, Elzbieta Czyzyk, Anna Eckersdorf-Mastalerz, Jolanta Fijak-Moskal, Dorota Gieruszczak-Bialek, Ewelina Glodek-Brzozowska, Alicja Goszczanska-Ciuchta, Malgorzata Grzeszykowska-Podymniak, Barbara Gurda, Anna Jakubiuk-Tomaszuk, Ewa Jamroz, Magdalena Janeczko, Dominika Jedlińska-Pijanowska, Marta Jurek, Dagmara Karolewska, Adela Kazmierczak, Teresa Kleist, Iwona Kochanowska, Malgorzata Krajewska-Walasek, Katarzyna Kufel, Anna Kutkowska-Kaźmierczak, Agata Lipiec, Dorota Maksym-Gasiorek, Anna Materna-Kiryluk, Hanna Mazurkiewicz, Michał Milewski, Tatsiana Pavina-Guglas, Aleksandra Pietrzyk, Renata Posmyk, Antoni Pyrkosz, Mariola Rudzka-Dybala, Ryszard Slezak, Marzena Wisniewska, Zofia Zalewska-Miszkurka, Elzbieta Szczepanik, Ewa Obersztyn, Monika Bekiesinska-Figatowska, Pawel Gawlinski, Wojciech Wiszniewski
Published 2021-12-01

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants [version 1; referees: 2 approved]

by Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G. Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T. Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E. Veenstra-Knol, Naomi Yachelevich, Laura Yates, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Nazneen Rahman
Published 2018-04-01