PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics von Bayat, Allan, Knaus, Alexej, Juul, Annika Wollenberg, Dukic, Dejan, Gardella, Elena, Charzewska, Agnieszka, Clement, Emma, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Horn, Denise, Horton, Rachel, Hurst, Jane A., Josifova, Dragana, Larsen, Line H. G., Lascelles, Karine, Obersztyn, Ewa, Pagnamenta, Alistair, Pal, Deb K., Pendziwiat, Manuela, Ryten, Mina, Taylor, Jenny, Vogt, Julie, Weber, Yvonne, Krawitz, Peter M., Helbig, Ingo, Kini, Usha, Møller, Rikke S.

Volltext

Null variants in AGRN cause lethal fetal akinesia deformation sequence von Geremek, Maciej, Dudarewicz, Lech, Obersztyn, Ewa, Paczkowska, Magdalena, Smyk, Marta, Sobecka, Katarzyna, Nowakowska, Beata

Volltext

Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findin... von Wertheim-Tysarowska, Katarzyna, Osipowicz, Katarzyna, Woźniak, Katarzyna, Sawicka, Justyna, Mika, Adrianna, Kutkowska-Kaźmierczak, Anna, Niepokój, Katarzyna, Sobczyńska-Tomaszewska, Agnieszka, Wawrzycki, Bartłomiej, Pietrzak, Aldona, Śmigiel, Robert, Wojtaś, Bartosz, Gielniewski, Bartłomiej, Szabelska-Beresewicz, Alicja, Zyprych-Walczak, Joanna, Rygiel, Agnieszka Magdalena, Domaszewicz, Alicja, Braun-Walicka, Natalia, Grabarczyk, Alicja, Rzońca-Niewczas, Sylwia, Lidia, Ruszkowska, Dawidziuk, Mateusz, Domański, Dominik, Gambin, Tomasz, Jackiewicz, Monika, Duk, Katarzyna, Dorożko, Barbara, Szczygielski, Orest, Krześniak, Natalia, Noszczyk, Bartłomiej H, Obersztyn, Ewa, Wierzba, Jolanta, Barczyk, Artur, Castaneda, Jennifer, Eckersdorf-Mastalerz, Anna, Jakubiuk-Tomaszuk, Anna, Własienko, Paweł, Jaszczuk, Ilona, Jezela-Stanek, Aleksandra, Klapecki, Jakub, van Geel, Michel, Kowalewski, Cezary, Bal, Jerzy, Gostyński, Antoni

Volltext

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis von Knaus, Alexej, Pantel, Jean Tori, Pendziwiat, Manuela, Hajjir, Nurulhuda, Zhao, Max, Hsieh, Tzung-Chien, Schubach, Max, Gurovich, Yaron, Fleischer, Nicole, Jäger, Marten, Köhler, Sebastian, Muhle, Hiltrud, Korff, Christian, Møller, Rikke S, Bayat, Allan, Calvas, Patrick, Chassaing, Nicolas, Warren, Hannah, Skinner, Steven, Louie, Raymond, Evers, Christina, Bohn, Marc, Christen, Hans-Jürgen, van den Born, Myrthe, Obersztyn, Ewa, Charzewska, Agnieszka, Endziniene, Milda, Kortüm, Fanny, Brown, Natasha, Robinson, Peter N, Schelhaas, Helenius J, Weber, Yvonne, Helbig, Ingo, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M

Volltext

Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism von Dawidziuk, Mateusz, Podwysocka, Aleksandra, Jurek, Marta, Obersztyn, Ewa, Bekiesinska-Figatowska, Monika, Goszczanska-Ciuchta, Alicja, Bukowska-Olech, Ewelina, Rygiel, Agnieszka Magdalena, Guilbride, Dorothy Lys, Wiszniewski, Wojciech, Gawlinski, Pawel

Volltext

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene von Bukowska-Olech, Ewelina, Gawlinski, Pawel, Jakubiuk-Tomaszuk, Anna, Jedrzejowska, Maria, Obersztyn, Ewa, Piechota, Michal, Bielska, Marta, Jamsheer, Aleksander

Volltext

Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss von 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

Volltext

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures von Bayat, Allan, Pendziwiat, Manuela, Obersztyn, Ewa, Goldenberg, Paula, Zacher, Pia, Doering, Jan Henje, Syrbe, Steffen, Begtrup, Amber, Borovikov, Artem, Sharkov, Artem, Karasinska, Aneta, Gizewska, Maria, Mitchell, Wendy, Morava, Eva, Moller, Rikke S., Rubboli, Guido

Volltext

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis von Walczak-Sztulpa, Joanna, Wawrocka, Anna, Doornbos, Cenna, van Beek, Ronald, Sowińska-Seidler, Anna, Jamsheer, Aleksander, Bukowska-Olech, Ewelina, Latos-Bieleńska, Anna, Grenda, Ryszard, Bongers, Ernie M. H. F., Schmidts, Miriam, Obersztyn, Ewa, Krawczyński, Maciej R., Oud, Machteld M.

Volltext

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C von Nowakowska, Beata A., Obersztyn, Ewa, Szymańska, Krystyna, Bekiesińska-Figatowska, Monika, Xia, Zhilian, Ricks, Christian B., Bocian, Ewa, Stockton, David W., Szczałuba, Krzysztof, Nawara, Magdalena, Patel, Ankita, Scott, Daryl A., Cheung, Sau Wai, Bohan, Timothy P., Stankiewicz, Paweł

Volltext

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity von Gos, Monika, Fahiminiya, Somayyeh, Poznański, Jarosław, Klapecki, Jakub, Obersztyn, Ewa, Piotrowicz, Małgorzata, Wierzba, Jolanta, Posmyk, Renata, Bal, Jerzy, Majewski, Jacek

Volltext

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome von Jakubiak, Aleksandra, Szczałuba, Krzysztof, Badura-Stronka, Magdalena, Kutkowska-Kaźmierczak, Anna, Jakubiuk-Tomaszuk, Anna, Chilarska, Tatiana, Pilch, Jacek, Braun-Walicka, Natalia, Castaneda, Jennifer, Wołyńska, Katarzyna, Wiśniewska, Marzena, Kugaudo, Monika, Bielecka, Monika, Pesz, Karolina, Wierzba, Jolanta, Latos-Bieleńska, Anna, Obersztyn, Ewa, Krajewska-Walasek, Małgorzata, Śmigiel, Robert

Volltext

Hypomyelination, hypogonadotropic hypogonadism, hypodontia – First Polish patient von Bekiesinska-Figatowska, Monika, Mierzewska, Hanna, Kuczynska-Zardzewialy, Arleta, Szczepanik, Elzbieta, Obersztyn, Ewa

Volltext

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females von Bartnik, Magdalena, Derwińska, Katarzyna, Gos, Monika, Obersztyn, Ewa, Kołodziejska, Katarzyna E., Erez, Ayelet, Szpecht-Potocka, Agnieszka, Fang, Ping, Terczyńska, Iwona, Mierzewska, Hanna, Lohr, Naomi J., Bellus, Gary A., Reimschisel, Tyler, Bocian, Ewa, Mazurczak, Tadeusz, Cheung, Sau Wai, Stankiewicz, Paweł

Volltext

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC) von Domaradzka, Justyna, Deperas, Marta, Obersztyn, Ewa, Kucinska-Chahwan, Anna, Brison, Nathalie, Van Den Bogaert, Kris, Roszkowski, Tomasz, Kedzior, Marta, Bartnik-Glaska, Magdalena, Luszczek, Alicja, Jakubow-Durska, Krystyna, Vermeesch, Joris Robert, Nowakowska, Beata Anna

Volltext

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling von Kutkowska-Kaźmierczak, Anna, Gos, Monika, Obersztyn, Ewa

Volltext

Prenatal and Neonatal Ultrasound and Magnetic Resonance Imaging Diagnosis of Sprengel’s Deformity with Unusual Associations von Jaczyńska, Renata, Bekiesinska-Figatowska, Monika, Sobieraj, Paulina, Issat, Tadeusz, Gos, Monika, Obersztyn, Ewa

Volltext

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care von Ivanovski, Ivan, Djuric, Olivera, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Rosato, Simonetta, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Ajmone, Paola Francesca, Badura-Stronka, Magdalena, Baldo, Chiara, Baldi, Maddalena, Bayat, Allan, Bigoni, Stefania, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, De Brasi, Daniele, Devriendt, Koenraad, Dinulos, Mary Beth, Hjortshøj, Tina Duelund, Epifanio, Roberta, Faravelli, Francesca, Fiumara, Agata, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Kuburovic, Vladimir, Kutkowska-Kazmierczak, Anna, Lacombe, Didier, Lo Rizzo, Caterina, Luchetti, Anna, Malbora, Baris, Mammi, Isabella, Mari, Francesca, Montorsi, Giulia, Moutton, Sebastien, Møller, Rikke S, Muschke, Petra, Nielsen, Jens Erik Klint, Obersztyn, Ewa, Pantaleoni, Chiara, Pellicciari, Alessandro, Pisanti, Maria Antonietta, Prpic, Igor, Poch-Olive, Maria Luisa, Raviglione, Federico, Renieri, Alessandra, Ricci, Emilia, Rivieri, Francesca, Santen, Gijs W, Savasta, Salvatore, Scarano, Gioacchino, Schanze, Ina, Selicorni, Angelo, Silengo, Margherita, Smigiel, Robert, Spaccini, Luigina, Sorge, Giovanni, Szczaluba, Krzysztof, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zenker, Martin, Conidi, Andrea, Zollino, Marcella, Rauch, Anita, Zweier, Christiane, Garavelli, Livia

Volltext

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities von Patel, Ankita, Brunetti-Pierri, Nicola, Berg, Jonathan S, Scaglia, Fernando, Belmont, John, Bacino, Carlos A, Sahoo, Trilochan, Lalani, Seema R, Graham, Brett, Lee, Brendan, Shinawi, Marwan, Shen, Joseph, Kang, Sung-Hae L, Pursley, Amber, Lotze, Timothy, Kennedy, Gail, Lansky-Shafer, Susan, Weaver, Christine, Roeder, Elizabeth R, Grebe, Theresa A, Arnold, Georgianne L, Hutchison, Terry, Reimschisel, Tyler, Amato, Stephen, Geragthy, Michael T, Innis, Jeffrey W, Obersztyn, Ewa, Nowakowska, Beata, Rosengren, Sally S, Bader, Patricia I, Grange, Dorothy K, Naqvi, Sayed, Garnica, Adolfo D, Bernes, Saunder M, Fong, Chin-To, Summers, Anne, Walters, W David, Lupski, James R, Stankiewicz, Pawel, Cheung, Sau Wai

Volltext

Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants inWDR35 von Walczak-Sztulpa, Joanna, Wawrocka, Anna, Leszczynska, Beata, Mikulska, Boyana, Arts, Heleen H., Bukowska-Olech, Ewelina, Daniel, Maria, Krawczynski, Maciej R., Latos-Bielenska, Anna, Obersztyn, Ewa

Volltext