A genotype–phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus

por Sowińska-Seidler, Anna, Socha, Magdalena, Szoszkiewicz, Anna, Materna-Kiryluk, Anna, Jamsheer, Aleksander
Publicado 2023

Case Report: Autoimmune Lymphoproliferative Syndrome vs. Chronic Active Epstein-Barr Virus Infection in Children: A Diagnostic Challenge

por Szczawińska-Popłonyk, Aleksandra, Grześk, Elzbieta, Schwartzmann, Eyal, Materna-Kiryluk, Anna, Małdyk, Jadwiga
Publicado 2021

Genetic and Environmental Risk Factors for Isolated Hemangiomas in Infants

por Materna-Kiryluk, Anna, Wiśniewska, Katarzyna, Więckowska, Barbara, Wróblewska-Seniuk, Katarzyna, Jaroszewska-Świątek, Beata, Helwich, Ewa, Latos-Bieleńska, Anna
Publicado 2020

Maternal Risk Factors Associated with Limb Reduction Defects: Data from the Polish Registry of Congenital Malformations (PRCM)

por Materna-Kiryluk, Anna, Wisniewska, Katarzyna, Wieckowska, Barbara, Wierzba, Jolanta, Jazdzewska, Anna, Jaroszewska-Swiatek, Beata, Skotnicka, Kinga, Latos-Bielenska, Anna
Publicado 2021

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

por Bukowska-Olech, Ewelina, Materna-Kiryluk, Anna, Walczak-Sztulpa, Joanna, Popiel, Delfina, Badura-Stronka, Magdalena, Koczyk, Grzegorz, Dawidziuk, Adam, Jamsheer, Aleksander
Publicado 2020

Epidemiology of isolated preaxial polydactyly type I: Data from the Polish Registry of Congenital Malformations (PRCM)

por Materna-Kiryluk, Anna, Jamsheer, Aleksander, Wisniewska, Katarzyna, Wieckowska, Barbara, Limon, Janusz, Borszewska-Kornacka, Maria, Sawulicka-Oleszczuk, Henryka, Szwalkiewicz-Warowicka, Ewa, Latos-Bielenska, Anna
Publicado 2013

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects

por Bukowska-Olech, Ewelina, Sowińska-Seidler, Anna, Larysz, Dawid, Gawliński, Paweł, Koczyk, Grzegorz, Popiel, Delfina, Gurba-Bryśkiewicz, Lidia, Materna-Kiryluk, Anna, Adamek, Zuzanna, Szczepankiewicz, Aleksandra, Dominiak, Paweł, Glista, Filip, Matuszewska, Karolina, Jamsheer, Aleksander
Publicado 2022

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

por Wozniak, Anna, Wolnik-Brzozowska, Danuta, Wisniewska, Marzena, Glazar, Renata, Materna-Kiryluk, Anna, Moszura, Tomasz, Badura-Stronka, Magdalena, Skolozdrzy, Joanna, Krawczynski, Maciej R, Zeyland, Joanna, Bobkowski, Waldemar, Slomski, Ryszard, Latos-Bielenska, Anna, Siwinska, Aldona
Publicado 2010

Insulin analogues use in pregnancy among women with pregestational diabetes mellitus and risk of congenital anomaly: a retrospective population-based cohort study

por Wang, Hao, Wender-Ozegowska, Ewa, Garne, Ester, Morgan, Margery, Loane, Maria, Morris, Joan K, Bakker, Marian K, Gatt, Miriam, de Walle, Hermien, Jordan, Susan, Materna-Kiryluk, Anna, Nelen, Vera, Thys, Guy, Wiesel, Awi, Dolk, Helen, de Jong-van den Berg, Lolkje T W
Publicado 2018

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

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

Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries

por Morris, Joan K., Wellesley, Diana, Limb, Elizabeth, Bergman, Jorieke E. H., Kinsner‐Ovaskainen, Agnieszka, Addor, Marie Claude, Broughan, Jennifer M., Cavero‐Carbonell, Clara, Dias, Carlos M., Echevarría‐González‐de‐Garibay, Luis‐Javier, Gatt, Miriam, Haeusler, Martin, Barisic, Ingeborg, Klungsoyr, Kari, Lelong, Nathalie, Materna‐Kiryluk, Anna, Neville, Amanda, Nelen, Vera, O'Mahony, Mary T., Perthus, Isabelle, Pierini, Anna, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Sayers, Geraldine, Stevens, Sarah, Tucker, David, Garne, Ester
Publicado 2022

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

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

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

por Verbitsky, Miguel, Westland, Rik, Perez, Alejandra, Kiryluk, Krzysztof, Liu, Qingxue, Krithivasan, Priya, Mitrotti, Adele, Fasel, David A., Batourina, Ekaterina, Sampson, Matthew G., Bodria, Monica, Werth, Max, Kao, Charlly, Martino, Jeremiah, Capone, Valentina P., Vivante, Asaf, Shril, Shirlee, Kil, Byum Hee, Marasa, Maddalena, Zhang, Jun Y., Na, Young-Ji, Lim, Tze Y., Ahram, Dina, Weng, Patricia L., Heinzen, Erin L., Carrea, Alba, Piaggio, Giorgio, Gesualdo, Loreto, Manca, Valeria, Masnata, Giuseppe, Gigante, Maddalena, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A.E., Saraga, Marijan, Santoro, Domenico, Conti, Giovanni, Zamboli, Pasquale, White, Hope, Drozdz, Dorota, Zachwieja, Katarzyna, Miklaszewska, Monika, Tkaczyk, Marcin, Tomczyk, Daria, Krakowska, Anna, Sikora, Przemyslaw, Jarmoliński, Tomasz, Borszewska-Kornacka, Maria K., Pawluch, Robert, Szczepanska, Maria, Adamczyk, Piotr, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Dobson, Mark G., Darlow, John M., Puri, Prem, Barton, David E., Furth, Susan L., Warady, Bradley A., Gucev, Zoran, Lozanovski, Vladimir J., Tasic, Velibor, Pisani, Isabella, Allegri, Landino, Rodas, Lida M., Campistol, Josep M., Jeanpierre, Cécile, Alam, Shumyle, Casale, Pasquale, Wong, Craig S., Lin, Fangming, Miranda, Débora M., Oliveira, Eduardo A., Simões-e-Silva, Ana Cristina, Barasch, Jonathan M., Levy, Brynn, Wu, Nan, Hildebrandt, Friedhelm, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Zhang, Feng, Hakonarson, Hakon, Papaioannou, Virginia E., Mendelsohn, Cathy L., Gharavi, Ali G., Sanna-Cherchi, Simone
Publicado 2018