Works matching AU Ciara, Elzbieta

Results: 58
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    Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

    Published in:
    Human Mutation, 2022, v. 43, n. 3, p. 403, doi. 10.1002/humu.24326
    By:
    • Scala, Marcello;
    • Wortmann, Saskia B.;
    • Kaya, Namik;
    • Stellingwerff, Menno D.;
    • Pistorio, Angela;
    • Glamuzina, Emma;
    • van Karnebeek, Clara D.;
    • Skrypnyk, Cristina;
    • Iwanicka‐Pronicka, Katarzyna;
    • Piekutowska‐Abramczuk, Dorota;
    • Ciara, Elżbieta;
    • Tort, Frederic;
    • Sheidley, Beth;
    • Poduri, Annapurna;
    • Jayakar, Parul;
    • Jayakar, Anuj;
    • Upadia, Jariya;
    • Walano, Nicolette;
    • Haack, Tobias B.;
    • Prokisch, Holger
    Publication type:
    Article
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    Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 515, doi. 10.1002/acn3.725
    By:
    • Hayhurst, Hannah;
    • de Coo, Irenaeus F. M.;
    • Piekutowska‐Abramczuk, Dorota;
    • Alston, Charlotte L.;
    • Sharma, Sunil;
    • Thompson, Kyle;
    • Rius, Rocio;
    • He, Langping;
    • Hopton, Sila;
    • Ploski, Rafal;
    • Ciara, Elzbieta;
    • Lake, Nicole J.;
    • Compton, Alison G.;
    • Delatycki, Martin B.;
    • Verrips, Aad;
    • Bonnen, Penelope E.;
    • Jones, Simon A.;
    • Morris, Andrew A.;
    • Shakespeare, David;
    • Christodoulou, John
    Publication type:
    Article
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    Molecular Review of Suspected Alport Syndrome Patients—A Single-Centre Experience.

    Published in:
    Genes, 2025, v. 16, n. 2, p. 196, doi. 10.3390/genes16020196
    By:
    • Halat-Wolska, Paulina;
    • Ciara, Elżbieta;
    • Pac, Michał;
    • Obrycki, Łukasz;
    • Wicher, Dorota;
    • Iwanicka-Pronicka, Katarzyna;
    • Bielska, Ewelina;
    • Chałupczyńska, Beata;
    • Siestrzykowska, Dorota;
    • Kostrzewa, Grażyna;
    • Stawiński, Piotr;
    • Płoski, Rafał;
    • Litwin, Mieczysław;
    • Chrzanowska, Krystyna
    Publication type:
    Article
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    Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.

    Published in:
    Genes, 2019, v. 10, n. 12, p. 959, doi. 10.3390/genes10120959
    By:
    • Tracewska, Anna M.;
    • Kocyła-Karczmarewicz, Beata;
    • Rafalska, Agnieszka;
    • Murawska, Joanna;
    • Jakubaszko-Jablonska, Joanna;
    • Rydzanicz, Małgorzata;
    • Stawiński, Piotr;
    • Ciara, Elżbieta;
    • Khan, Muhammad Imran;
    • Henkes, Arjen;
    • Hoischen, Alexander;
    • Gilissen, Christian;
    • van de Vorst, Maartje;
    • Cremers, Frans P. M.;
    • Płoski, Rafał;
    • Chrzanowska, Krystyna H.
    Publication type:
    Article
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    The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype.

    Published in:
    Pediatric Endocrinology, Diabetes & Metabolism, 2022, v. 28, n. 2, p. 141, doi. 10.5114/pedm.2022.116116
    By:
    • Wesół-Kucharska, Dorota;
    • Rokicki, Dariusz;
    • Greczan, Milena;
    • Kaczor, Magdalena;
    • Czekuć-Kryśkiewicz, Edyta;
    • Piekutowska-Abramczuk, Dorota;
    • Halat-Wolska, Paulina;
    • Ciara, Elżbieta;
    • Jaworski, Maciej;
    • Jezela-Stanek, Aleksandra
    Publication type:
    Article
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    Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.

    Published in:
    Acta Neuropathologica, 2010, v. 119, n. 3, p. 325, doi. 10.1007/s00401-009-0608-y
    By:
    • Ciara, Elżbieta;
    • Piekutowska-Abramczuk, Dorota;
    • Popowska, Ewa;
    • Grajkowska, Wiesława;
    • Barszcz, Sławomir;
    • Perek, Danuta;
    • Dembowska-Bagińska, Bożenna;
    • Perek-Polnik, Marta;
    • Kowalewska, Ewa;
    • Czajńska, Aneta;
    • Syczewska, Małgorzata;
    • Czornak, Kamila;
    • Krajewska-Walasek, Małgorzata;
    • Roszkowski, Marcin;
    • Chrzanowska, Krystyna H.
    Publication type:
    Article
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    DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.

    Published in:
    2022
    By:
    • Stenton, Sarah L.;
    • Tesarova, Marketa;
    • Sheremet, Natalia L.;
    • Catarino, Claudia B.;
    • Carelli, Valerio;
    • Ciara, Elżbieta;
    • Curry, Kathryn;
    • Engvall, Martin;
    • Fleming, Leah R.;
    • Freisinger, Peter;
    • Iwanicka-Pronicka, Katarzyna;
    • Jurkiewicz, Elżbieta;
    • Klopstock, Thomas;
    • Koenig, Mary K.;
    • Kolářová, Hana;
    • Kousal, Bohdan;
    • Krylova, Tatiana;
    • Morgia, Chiara La;
    • Nosková, Lenka;
    • Piekutowska-Abramczuk, Dorota
    Publication type:
    journal article
    25

    Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.

    Published in:
    Molecular Vision, 2021, v. 27, p. 457
    By:
    • Tracewska, Anna M.;
    • Kocyła-Karczmarewicz, Beata;
    • Rafalska, Agnieszka;
    • Murawska, Joanna;
    • Jakubaszko-Jabłońska, Joanna;
    • Rydzanicz, Małgorzata;
    • Stawiński, Piotr;
    • Ciara, Elżbieta;
    • Lipska-Ziętkiewicz, Beata S.;
    • Khan, Muhammad Imran;
    • Cremers, Frans P. M.;
    • Płoski, Rafał;
    • Chrzanowska, Krystyna H.
    Publication type:
    Article
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    New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

    Published in:
    2016
    By:
    • Pronicka, Ewa;
    • Piekutowska-Abramczuk, Dorota;
    • Ciara, Elżbieta;
    • Trubicka, Joanna;
    • Rokicki, Dariusz;
    • Karkucińska-Więckowska, Agnieszka;
    • Pajdowska, Magdalena;
    • Jurkiewicz, Elżbieta;
    • Halat, Paulina;
    • Kosińska, Joanna;
    • Pollak, Agnieszka;
    • Rydzanicz, Małgorzata;
    • Stawinski, Piotr;
    • Pronicki, Maciej;
    • Krajewska-Walasek, Małgorzata;
    • Płoski, Rafał
    Publication type:
    journal article
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    The frequency of NBN molecular variants in pediatric astrocytic tumors.

    Published in:
    Journal of Neuro-Oncology, 2010, v. 96, n. 2, p. 161, doi. 10.1007/s11060-009-9958-5
    By:
    • Piekutowska-Abramczuk, Dorota;
    • Ciara, Elżbieta;
    • Popowska, Ewa;
    • Grajkowska, Wiesława;
    • Dembowska-Bagińska, Bożenna;
    • Kowalewska, Ewa;
    • Czajńska, Aneta;
    • Perek-Polnik, Marta;
    • Roszkowski, Marcin;
    • Syczewska, Małgorzata;
    • Krajewska-Walasek, Małgorzata;
    • Perek, Danuta;
    • Chrzanowska, Krystyna
    Publication type:
    Article
    29

    A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 853, doi. 10.1007/s10545-017-0057-z
    By:
    • Pronicka, Ewa;
    • Ropacka-Lesiak, Mariola;
    • Trubicka, Joanna;
    • Pajdowska, Magdalena;
    • Linke, Markus;
    • Ostergaard, Elsebet;
    • Saunders, Carol;
    • Horsch, Sandra;
    • Karnebeek, Clara;
    • Yaplito-Lee, Joy;
    • Distelmaier, Felix;
    • Õunap, Katrin;
    • Rahman, Shamima;
    • Castelle, Martin;
    • Kelleher, John;
    • Baris, Safa;
    • Iwanicka-Pronicka, Katarzyna;
    • Steward, Colin;
    • Ciara, Elżbieta;
    • Wortmann, Saskia
    Publication type:
    Article
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    Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.

    Published in:
    Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 929, doi. 10.1007/s10545-013-9584-4
    By:
    • Karkucinska-Wieckowska, Agnieszka;
    • Trubicka, Joanna;
    • Werner, Bozena;
    • Kokoszynska, Katarzyna;
    • Pajdowska, Magdalena;
    • Pronicki, Maciej;
    • Czarnowska, Elzbieta;
    • Lebiedzinska, Magdalena;
    • Sykut-Cegielska, Jolanta;
    • Ziolkowska, Lidia;
    • Jaron, Weronika;
    • Dobrzanska, Anna;
    • Ciara, Elzbieta;
    • Wieckowski, Mariusz;
    • Pronicka, Ewa
    Publication type:
    Article
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    A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency in Poland.

    Published in:
    Journal of Inherited Metabolic Disease, 2010, v. 33, p. 373, doi. 10.1007/s10545-010-9190-7
    By:
    • Piekutowska‐Abramczuk, Dorota;
    • Olsen, Rikke K. J.;
    • Wierzba, Jolanta;
    • Popowska, Ewa;
    • Jurkiewicz, Dorota;
    • Ciara, Elżbieta;
    • Ołtarzewski, Mariusz;
    • Gradowska, Wanda;
    • Sykut‐Cegielska, Jolanta;
    • Krajewska‐Walasek, Małgorzata;
    • Andresen, Brage S.;
    • Gregersen, Niels;
    • Pronicka, Ewa
    Publication type:
    Article
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    Clinical heterogeneity of polish patients with KAT6B–related disorder.

    Published in:
    Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2265
    By:
    • Magdalena, Klaniewska;
    • Anna, Bolanowska‐Tyszko;
    • Anna, Latos‐Bielenska;
    • Aleksandra, Jezela‐Stanek;
    • Krzysztof, Szczaluba;
    • Malgorzata, Krajewska‐Walasek;
    • Elzbieta, Ciara;
    • Magdalena, Pelc;
    • Dorota, Jurkiewicz;
    • Piotr, Stawinski;
    • Agnieszka, Zubkiewicz‐Kucharska;
    • Małgorzata, Rydzanicz;
    • Rafal, Ploski;
    • Robert, Smigiel
    Publication type:
    Article
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    Correction: Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

    Published in:
    2025
    By:
    • Neřoldová, Magdaléna;
    • Ciara, Elżbieta;
    • Slatinská, Janka;
    • Fraňková, Soňa;
    • Lišková, Petra;
    • Kotalová, Radana;
    • Globinovská, Janka;
    • Šafaříková, Markéta;
    • Pfeiferová, Lucie;
    • Zůnová, Hana;
    • Mrázová, Lenka;
    • Stránecký, Viktor;
    • Vrbacká, Alena;
    • Fabián, Ondřej;
    • Sticová, Eva;
    • Skanderová, Daniela;
    • Šperl, Jan;
    • Kalousová, Marta;
    • Zima, Tomáš;
    • Macek, Milan
    Publication type:
    Correction Notice
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    POLG gene mutation. Clinico-neuropathological study.

    Published in:
    Folia Neuropathologica, 2020, v. 58, n. 4, p. 386, doi. 10.5114/fn.2020.102441
    By:
    • Tarka, Sylwia;
    • Laure-Kamionowska, Milena;
    • Wierzba-Bobrowicz, Teresa;
    • Witulska, Katarzyna;
    • Ciara, Elżbieta;
    • Szymańska, Krystyna;
    • Krajewski, Paweł;
    • Stępień, Tomasz;
    • Acewicz, Albert;
    • Felczak, Paulina
    Publication type:
    Article
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    Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

    Published in:
    PLoS ONE, 2023, v. 18, n. 7, p. 1, doi. 10.1371/journal.pone.0288907
    By:
    • Neřoldová, Magdaléna;
    • Ciara, Elżbieta;
    • Slatinská, Janka;
    • Fraňková, Soňa;
    • Lišková, Petra;
    • Kotalová, Radana;
    • Globinovská, Janka;
    • Šafaříková, Markéta;
    • Pfeiferová, Lucie;
    • Zůnová, Hana;
    • Mrázová, Lenka;
    • Stránecký, Viktor;
    • Vrbacká, Alena;
    • Fabián, Ondřej;
    • Sticová, Eva;
    • Skanderová, Daniela;
    • Šperl, Jan;
    • Kalousová, Marta;
    • Zima, Tomáš;
    • Macek, Milan
    Publication type:
    Article
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    Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.

    Published in:
    Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2016, v. 160, n. 1, p. 161, doi. 10.5507/bp.2016.006
    By:
    • Jezela-Stanek, Aleksandra;
    • Kucharczyk, Marzena;
    • Falana, Katarzyna;
    • Jurkiewicz, Dorota;
    • Mlynek, Marlena;
    • Wicher, Dorota;
    • Rydzanicz, Malgorzata;
    • Kugaudo, Monika;
    • Cieslikowska, Agata;
    • Ciara, Elzbieta;
    • Ploski, Rafal;
    • Krajewska-Walasek, Malgorzata
    Publication type:
    Article
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    The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.

    Published in:
    2017
    By:
    • Trubicka, Joanna;
    • Żemojtel, Tomasz;
    • Hecht, Jochen;
    • Falana, Katarzyna;
    • Abramczuk, Dorota Piekutowska;
    • Płoski, Rafał;
    • Perek-Polnik, Marta;
    • Drogosiewicz, Monika;
    • Grajkowska, Wiesława;
    • Ciara, Elżbieta;
    • Moszczyńska, Elżbieta;
    • Dembowska-Bagińska, Bożenna;
    • Perek, Danuta;
    • Chrzanowska, Krystyna H.;
    • Krajewska-Walasek, Małgorzata;
    • Łastowska, Maria;
    • Piekutowska-Abramczuk, Dorota
    Publication type:
    journal article
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    The Indices of Cardiovascular Magnetic Resonance Derived Atrial Dynamics May Improve the Contemporary Risk Stratification Algorithms in Children with Hypertrophic Cardiomyopathy.

    Published in:
    Journal of Clinical Medicine, 2021, v. 10, n. 4, p. 650, doi. 10.3390/jcm10040650
    By:
    • Ziółkowska, Lidia;
    • Mazurkiewicz, Łukasz;
    • Petryka, Joanna;
    • Kowalczyk-Domagała, Monika;
    • Boruc, Agnieszka;
    • Bieganowska, Katarzyna;
    • Ciara, Elżbieta;
    • Piekutowska-Abramczuk, Dorota;
    • Śpiewak, Mateusz;
    • Miśko, Jolanta;
    • Marczak, Magdalena;
    • Brzezińska-Rajszys, Grażyna;
    • Mauro, Feola
    Publication type:
    Article
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    Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

    Published in:
    Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01019-9
    By:
    • Yépez, Vicente A.;
    • Gusic, Mirjana;
    • Kopajtich, Robert;
    • Mertes, Christian;
    • Smith, Nicholas H.;
    • Alston, Charlotte L.;
    • Ban, Rui;
    • Beblo, Skadi;
    • Berutti, Riccardo;
    • Blessing, Holger;
    • Ciara, Elżbieta;
    • Distelmaier, Felix;
    • Freisinger, Peter;
    • Häberle, Johannes;
    • Hayflick, Susan J.;
    • Hempel, Maja;
    • Itkis, Yulia S.;
    • Kishita, Yoshihito;
    • Klopstock, Thomas;
    • Krylova, Tatiana D.
    Publication type:
    Article
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