Encephalocraniocutaneous Lipomatosis, a Radiological Challenge: Two Atypical Case Reports and Literature Review

por Machnikowska-Sokołowska, Magdalena, Fabrowicz, Piotr, Pilch, Jacek, Roesler, Weronika, Kuźniak, Mikołaj, Gruszczyńska, Katarzyna, Paprocka, Justyna
Publicado 2022

A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene

por Zimowski, Janusz G., Pilch, Jacek, Pawelec, Magdalena, Purzycka, Joanna K., Kubalska, Jolanta, Ziora-Jakutowicz, Karolina, Dudzińska, Magdalena, Zaremba, Jacek
Publicado 2017

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1

por Midro, Alina T., Zollino, Marcella, Wiland, Ewa, Panasiuk, Barbara, Iwanowski, Piotr S., Murdolo, Marina, Śmigiel, Robert, Sąsiadek, Maria, Pilch, Jacek, Kurpisz, Maciej
Publicado 2015

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

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

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

por Elert-Dobkowska, Ewelina, Stepniak, Iwona, Krysa, Wioletta, Ziora-Jakutowicz, Karolina, Rakowicz, Maria, Sobanska, Anna, Pilch, Jacek, Antczak-Marach, Dorota, Zaremba, Jacek, Sulek, Anna
Publicado 2019

Ten new ATM alterations in Polish patients with ataxia-telangiectasia

por Podralska, Marta Joanna, Stembalska, Agnieszka, Ślęzak, Ryszard, Lewandowicz-Uszyńska, Aleksandra, Pietrucha, Barbara, Kołtan, Sylwia, Wigowska-Sowińska, Jadwiga, Pilch, Jacek, Mosor, Maria, Ziółkowska-Suchanek, Iwona, Dzikiewicz-Krawczyk, Agnieszka, Słomski, Ryszard
Publicado 2014

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

por 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
Publicado 2021

Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

por MacKenzie, Katherine C., de Graaf, Bianca M., Syrimis, Andreas, Zhao, Yuying, Brosens, Erwin, Mancini, Grazia M. S., Schot, Rachel, Halley, Dicky, Wilke, Martina, Vøllo, Arve, Flinter, Frances, Green, Andrew, Mansour, Sahar, Pilch, Jacek, Stark, Zornitza, Zamba‐Papanicolaou, Eleni, Christophidou‐Anastasiadou, Violetta, Hofstra, Robert M. W., Jongbloed, Jan D. H., Nicolaou, Nayia, Tanteles, George A., Brooks, Alice S., Alves, Maria M.
Publicado 2020

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the...

por Giunta, Cecilia, Baumann, Matthias, Fauth, Christine, Lindert, Uschi, Abdalla, Ebtesam M, Brady, Angela F, Collins, James, Dastgir, Jahannaz, Donkervoort, Sandra, Ghali, Neeti, Johnson, Diana S, Kariminejad, Ariana, Koch, Johannes, Kraenzlin, Marius, Lahiri, Nayana, Lozic, Bernarda, Manzur, Adnan Y, Morton, Jenny E V, Pilch, Jacek, Pollitt, Rebecca C, Schreiber, Gudrun, Shannon, Nora L, Sobey, Glenda, Vandersteen, Anthony, van Dijk, Fleur S, Witsch-Baumgartner, Martina, Zschocke, Johannes, Pope, F Michael, Bönnemann, Carsten G, Rohrbach, Marianne
Publicado 2018

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study

por Balestrini, Simona, Mikati, Mohamad A., Álvarez-García-Rovés, Reyes, Carboni, Michael, Hunanyan, Arsen S., Kherallah, Bassil, McLean, Melissa, Prange, Lyndsey, De Grandis, Elisa, Gagliardi, Alessandra, Pisciotta, Livia, Stagnaro, Michela, Veneselli, Edvige, Campistol, Jaume, Fons, Carmen, Pias-Peleteiro, Leticia, Brashear, Allison, Miller, Charlotte, Samões, Raquel, Brankovic, Vesna, Padiath, Quasar S., Potic, Ana, Pilch, Jacek, Vezyroglou, Aikaterini, Bye, Ann M.E., Davis, Andrew M., Ryan, Monique M., Semsarian, Christopher, Hollingsworth, Georgina, Scheffer, Ingrid E., Granata, Tiziana, Nardocci, Nardo, Ragona, Francesca, Arzimanoglou, Alexis, Panagiotakaki, Eleni, Carrilho, Inês, Zucca, Claudio, Novy, Jan, Dzieżyc, Karolina, Parowicz, Marek, Mazurkiewicz-Bełdzińska, Maria, Weckhuysen, Sarah, Pons, Roser, Groppa, Sergiu, Sinden, Daniel S., Pitt, Geoffrey S., Tinker, Andrew, Ashworth, Michael, Michalak, Zuzanna, Thom, Maria, Cross, J. Helen, Vavassori, Rosaria, Kaski, Juan P., Sisodiya, Sanjay M.
Publicado 2020