Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia
Schlingmann, Karl P, Ruminska, Justyna, Kaufmann, Martin, Dursun, Ismail, Patti, Monica, Kranz, Birgitta, Pronicka, Ewa, Ciara, Elzbieta, Akcay, Teoman, Bulus, Derya, Cornelissen, Elisabeth A M, Gawlik, Aneta, Sikora, Przemysław, Patzer, Ludwig, Galiano, Matthias, Boyadzhiev, Veselin, Dumic, Miroslav, Vivante, Asaf, Kleta, Robert, Dekel, Benjamin, Levtchenko, Elena, Bindels, René J, Rust, Stephan, Forster, Ian C, Hernando, Nati, Jones, Glenville, Wagner, Carsten A, Konrad, Martin
Published in Journal of the American Society of Nephrology (01.02.2016)
Published in Journal of the American Society of Nephrology (01.02.2016)
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Journal Article
Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature
Lipiński, Patryk, Klaudel-Dreszler, Maja, Ciara, Elzbieta, Jurkiewicz, Dorota, Płoski, Rafał, Cielecka-Kuszyk, Joanna, Socha, Piotr, Jankowska, Irena
Published in Frontiers in pediatrics (13.01.2021)
Published in Frontiers in pediatrics (13.01.2021)
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Clinical heterogeneity of polish patients with KAT6B–related disorder
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
Published in Molecular genetics & genomic medicine (01.12.2023)
Published in Molecular genetics & genomic medicine (01.12.2023)
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Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant
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
Published in Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia (01.03.2016)
Published in Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia (01.03.2016)
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Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders
Stradomska, Teresa Joanna, Syczewska, Malgorzata, Jamroz, Ewa, Pleskaczynska, Agata, Kruczek, Piotr, Ciara, Elzbieta, Tylki-Szymanska, Anna
Published in PloS one (18.09.2020)
Published in PloS one (18.09.2020)
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New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre
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
Published in Journal of translational medicine (12.06.2016)
Published in Journal of translational medicine (12.06.2016)
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Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases
Pronicka, Ewa, Ciara, Elżbieta, Halat, Paulina, Janiec, Agnieszka, Wójcik, Marek, Rowińska, Elżbieta, Rokicki, Dariusz, Płudowski, Paweł, Wojciechowska, Ewa, Wierzbicka, Aldona, Książyk, Janusz B., Jacoszek, Agnieszka, Konrad, Martin, Schlingmann, Karl P., Litwin, Mieczysław
Published in Journal of applied genetics (01.08.2017)
Published in Journal of applied genetics (01.08.2017)
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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
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, Pawlowska, Joanna, Knisely, A S, Kmoch, Stanislav, Jirsa, Milan
Published in PloS one (20.07.2023)
Published in PloS one (20.07.2023)
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Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance
Stenton, Sarah L., Piekutowska‐Abramczuk, Dorota, Kulterer, Lea, Kopajtich, Robert, Claeys, Kristl G., Ciara, Elżbieta, Eisen, Johannes, Płoski, Rafał, Pronicka, Ewa, Malczyk, Katarzyna, Wagner, Matias, Wortmann, Saskia B., Prokisch, Holger
Published in Human mutation (01.03.2021)
Published in Human mutation (01.03.2021)
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Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children—A Single Reference Center Experience
Piekutowska-Abramczuk, Dorota, Paszkowska, Agata, Ciara, Elżbieta, Frączak, Kamila, Mirecka-Rola, Alicja, Wicher, Dorota, Pollak, Agnieszka, Rutkowska, Karolina, Sarnecki, Jędrzej, Ziółkowska, Lidia
Published in Genes (26.07.2022)
Published in Genes (26.07.2022)
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Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up
Lipiński, Patryk, Ciara, Elżbieta, Jurkiewicz, Dorota, Płoski, Rafał, Wawrzynowicz-Syczewska, Marta, Pawłowska, Joanna, Jankowska, Irena
Published in Annals of hepatology (01.11.2021)
Published in Annals of hepatology (01.11.2021)
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Journal Article
Clinical Presentation of Left Ventricular Noncompaction Cardiomyopathy and Bradycardia in Three Families Carrying HCN4 Pathogenic Variants
Paszkowska, Agata, Piekutowska-Abramczuk, Dorota, Ciara, Elżbieta, Mirecka-Rola, Alicja, Brzezinska, Monika, Wicher, Dorota, Kostrzewa, Grażyna, Sarnecki, Jędrzej, Ziółkowska, Lidia
Published in Genes (08.03.2022)
Published in Genes (08.03.2022)
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Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease
Wesół-Kucharska, Dorota, Greczan, Milena, Kaczor, Magdalena, Ehmke Vel Emczyńska-Seliga, Ewa, Hajdacka, Małgorzata, Czekuć-Kryśkiewicz, Edyta, Piekutowska-Abramczuk, Dorota, Halat-Wolska, Paulina, Ciara, Elżbieta, Jaworski, Maciej, Jezela-Stanek, Aleksandra, Rokicki, Dariusz
Published in Nutrients (01.03.2024)
Published in Nutrients (01.03.2024)
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Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland
Iwanicka-Pronicka, Katarzyna, Ciara, Elżbieta, Piekutowska-Abramczuk, Dorota, Halat, Paulina, Pajdowska, Magdalena, Pronicki, Maciej
Published in International journal of pediatric otorhinolaryngology (01.06.2019)
Published in International journal of pediatric otorhinolaryngology (01.06.2019)
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Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism
Iwanicka-Pronicka, Katarzyna, Trubicka, Joanna, Szymanska, Edyta, Ciara, Elżbieta, Rokicki, Dariusz, Pollak, Agnieszka, Pronicki, Maciej
Published in International journal of pediatric otorhinolaryngology (01.12.2021)
Published in International journal of pediatric otorhinolaryngology (01.12.2021)
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Journal Article
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy
Piekutowska-Abramczuk, Dorota, Assouline, Zahra, Mataković, Lavinija, Feichtinger, René G., Koňařiková, Eliška, Jurkiewicz, Elżbieta, Stawiński, Piotr, Gusic, Mirjana, Koller, Andreas, Pollak, Agnieszka, Gasperowicz, Piotr, Trubicka, Joanna, Ciara, Elżbieta, Iwanicka-Pronicka, Katarzyna, Rokicki, Dariusz, Hanein, Sylvain, Wortmann, Saskia B., Sperl, Wolfgang, Rötig, Agnès, Prokisch, Holger, Pronicka, Ewa, Płoski, Rafał, Barcia, Giulia, Mayr, Johannes A.
Published in American journal of human genetics (01.03.2018)
Published in American journal of human genetics (01.03.2018)
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Journal Article
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
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, La Morgia, Chiara, Nosková, Lenka, Piekutowska-Abramczuk, Dorota, Russo, Sam N, Stránecký, Viktor, Tóthová, Iveta, Träisk, Frank, Prokisch, Holger
Published in Brain (London, England : 1878) (03.06.2022)
Published in Brain (London, England : 1878) (03.06.2022)
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