Works matching AU Ciara, Elzbieta

Results: 57

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

The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1263

By:

Jezela‐Stanek, Aleksandra;
Ciara, Elżbieta;
Jurkiewicz, Dorota;
Kucharczyk, Marzena;
Jędrzejowska, Maria;
Chrzanowska, Krystyna H.;
Krajewska‐Walasek, Małgorzata;
Żemojtel, Tomasz

Publication type:

Article

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

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

Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease.

Published in:

Folia Neuropathologica, 2017, v. 55, n. 2, p. 146, doi. 10.5114/fn.2017.68581

By:

Pronicki, Maciej;
Piekutowska-Abramczuk, Dorota;
Jurkiewicz, Elżbieta;
Rokicki, Dariusz;
Ciara, Elżbieta;
Trubicka, Joanna;
Iwanicka-Pronicka, Katarzyna;
Pajdowska, Magdalena;
Migdał, Marek;
Grajkowska, Wieslawa A.

Publication type:

Article

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome.

Published in:

Folia Neuropathologica, 2016, v. 54, n. 4, p. 405, doi. 10.5114/fn.2016.64819

By:

Piekutowska-Abramczuk, Dorota;
Mierzewska, Hanna;
Bekiesińska-Figatowska, Monika;
Ciara, Elżbieta;
Trubicka, Joanna;
Pronicki, Maciej;
Rokicki, Dariusz;
Rydzanicz, Małgorzata;
Płoski, Rafał;
Pronicka, Ewa

Publication type:

Article

Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B -- the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.

Published in:

Folia Neuropathologica, 2014, v. 52, n. 4, p. 452, doi. 10.5114/fn.2014.47847

By:

Szymanska, Sylwia;
Rokicki, Dariusz;
Karkucinska-Wieckowska, Agnieszka;
Szymanska-Debinska, Tamara;
Ciara, Elzbieta;
Ploski, Rafal;
Grajkowska, Wieslawa;
Pronicki, Maciej

Publication type:

Article

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

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

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

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

Differences between predicted and established diagnoses of Smith‐Lemli‐Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 241, doi. 10.1007/s10545-010-9132-4

By:

Jezela‐Stanek, Aleksandra;
Ciara, Elżbieta;
Małunowicz, Ewa;
Chrzanowska, Krystyna;
Latos‐Bieleńska, Anna;
Krajewska‐Walasek, Małgorzata;
The Smith‐Lemli‐Opitz syndrome (SLOS) Collaborative Group

Publication type:

Article

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

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.

Published in:

Human Mutation, 2021, v. 42, n. 3, p. 310, doi. 10.1002/humu.24160

By:

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

Publication type:

Article

Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.

Published in:

Nephrology Dialysis Transplantation, 2021, v. 36, n. 8, p. 1484, doi. 10.1093/ndt/gfaa178

By:

Janiec, Agnieszka;
Halat-Wolska, Paulina;
Obrycki, Łukasz;
Ciara, Elżbieta;
Wójcik, Marek;
Płudowski, Paweł;
Wierzbicka, Aldona;
Kowalska, Ewa;
Książyk, Janusz B;
Kułaga, Zbigniew;
Pronicka, Ewa;
Litwin, Mieczysław

Publication type:

Article

Spectrum of Clinical Features and Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children.

Published in:

Cardiogenetics, 2021, v. 11, n. 4, p. 191, doi. 10.3390/cardiogenetics11040020

By:

Paszkowska, Agata;
Mirecka-Rola, Alicja;
Piekutowska-Abramczuk, Dorota;
Ciara, Elżbieta;
Mazurkiewicz, Łukasz;
Bieganowska, Katarzyna;
Ziółkowska, Lidia

Publication type:

Article

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

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

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

11p15 duplication and 13q34 deletion with Beckwith- Wiedemann syndrome and factor VII deficiency.

Published in:

Pediatrics International, 2015, v. 57, n. 3, p. 486, doi. 10.1111/ped.12611

By:

Jurkiewicz, Dorota;
Kugaudo, Monika;
Tańska, Anna;
Wawrzkiewicz‐Witkowska, Angelika;
Tomaszewska, Agnieszka;
Kucharczyk, Marzena;
Cieślikowska, Agata;
Ciara, Elżbieta;
Krajewska‐Walasek, Małgorzata

Publication type:

Article

Carvajal syndrome related to two distinct molecular variants in desmoplakin gene.

Published in:

Polish Heart Journal / Kardiologia Polska, 2024, v. 82, n. 9, p. 914, doi. 10.33963/v.phj.101664

By:

Ziółkowska, Lidia;
Piekutowska-Abramczuk, Dorota;
Borowiec, Karolina;
Ciara, Elżbieta;
Sterliński, Maciej;
Biernacka, Elżbieta Katarzyna

Publication type:

Article

X-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA gene.

Published in:

Polish Heart Journal / Kardiologia Polska, 2023, v. 81, n. 3, p. 306, doi. 10.33963/KP.a2023.0017

By:

Madej-Pilarczyk, Agnieszka;
Piekutowska-Abramczuk, Dorota;
Kucińska, Beata;
Furmanek, Mariusz;
Gwiazda, Anna;
Ciara, Elżbieta;
Chrzanowska, Krystyna H.;
Werner, Bożena

Publication type:

Article

Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease.

Published in:

Nutrients, 2024, v. 16, n. 6, p. 812, doi. 10.3390/nu16060812

By:

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

Publication type:

Article

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.

Published in:

2018

By:

Szymańska, Edyta;
Szymańska, Sylwia;
Truszkowska, Grażyna;
Ciara, Elżbieta;
Pronicki, Maciej;
Shin, Yoon S.;
Podskarbi, Teodor;
Kępka, Alina;
Śpiewak, Mateusz;
Płoski, Rafał;
Bilińska, Zofia T.;
Rokicki, Dariusz

Publication type:

journal article

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

Deficyt cytrynu – patogeneza, obraz kliniczny i biochemiczny, diagnostyka, leczenie.

Published in:

Advances in Biochemistry / Postepy Biochemii, 2021, v. 67, n. 2, p. 157, doi. 10.18388/pb.2021_381

By:

Lipiński, Patryk;
Ciara, Elżbieta;
vel Emczyńska-Seliga, Ewa Ehmke;
Jankowska, Irena

Publication type:

Article

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

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

Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study.

Published in:

2024

By:

Duś-Żuchowska, Monika;
Nowak, Hanna;
Kałużny, Łukasz;
Rokicki, Dariusz;
Ciara, Elżbieta;
Piekutowska-Abramczuk, Dorota;
Walkowiak, Jarosław

Publication type:

Case Study

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 12, p. 4564, doi. 10.3390/ijms21124564

By:

Jezela-Stanek, Aleksandra;
Ciara, Elżbieta;
Stepien, Karolina M.

Publication type:

Article

Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls.

Published in:

Acta Biochimica Polonica, 2020, v. 67, n. 2, p. 225, doi. 10.18388/abp.2020_5202

By:

Lipiński, Patryk;
Jurkiewicz, Dorota;
Ciara, Elżbieta;
Płoski, Rafał;
Więcek, Sabina;
Bogdańska, Anna;
Stradomska, Teresa;
Socha, Piotr;
Rokicki, Dariusz;
Tylki-Szymańska, Anna;
Jankowska, Irena

Publication type:

Article

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.

Published in:

2019

By:

Jędrzejowska, Maria;
Dębek, Emilia;
Kowalczyk, Bartłomiej;
Halat, Paulina;
Kostera-Pruszczyk, Anna;
Ciara, Elżbieta;
Jezela-Stanek, Aleksandra;
Rydzanicz, Małgorzata;
Gasperowicz, Piotr;
Gos, Monika

Publication type:

journal article

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

Family report of Birk-Barel syndrome -- a neurodevelopmental channelopathy with epigenetic signature.

Published in:

Polish Journal of Neurology & Neurosurgery / Neurologia i Neurochirurgia Polska, 2025, v. 59, n. 2, p. 185, doi. 10.5603/pjnns.104700

By:

Piekutowska-Abramczuk, Dorota;
Jędrzejowska, Maria;
Ciara, Elżbieta;
Jurkiewicz, Dorota;
Halat-Wolska, Paulina;
Młynek, Marlena;
Chrzanowska, Krystyna;
Płoski, Rafał;
Madej-Pilarczyk, Agnieszka

Publication type:

Article

Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2022, v. 28, n. 3, p. 207, doi. 10.5114/pedm.2022.116115

By:

Kaczor, Magdalena;
Wesół-Kucharska, Dorota;
Greczan, Milena;
Kierus, Karolina;
Kałużny, Łukasz;
Duś-Żuchowska, Monika;
vel Emczyńska-Seliga, Ewa Ehmke;
Ciara, Elżbieta;
Książyk, Janusz;
Rokicki, Dariusz

Publication type:

Article

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

Sodium‐glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b?

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 3, p. 199, doi. 10.1002/jmd2.12278

By:

Kaczor, Magdalena;
Greczan, Milena;
Kierus, Karolina;
Ehmke vel Emczyńska‐Seliga, Ewa;
Ciara, Elżbieta;
Piątosa, Barbara;
Rokicki, Dariusz;
Książyk, Janusz;
Wesół‐Kucharska, Dorota

Publication type:

Article

DCDC2 -Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases.

Published in:

Diagnostics (2075-4418), 2023, v. 13, n. 11, p. 1917, doi. 10.3390/diagnostics13111917

By:

Lipiński, Patryk;
Ciara, Elżbieta;
Jurkiewicz, Dorota;
Mekrouda, Magda;
Cielecka-Kuszyk, Joanna;
Jurkiewicz, Elżbieta;
Płoski, Rafał;
Pawłowska, Joanna;
Jankowska, Irena

Publication type:

Article

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.

Published in:

Diagnostics (2075-4418), 2021, v. 11, n. 8, p. 1438, doi. 10.3390/diagnostics11081438

By:

Lipiński, Patryk;
Stępień, Karolina M.;
Ciara, Elżbieta;
Tylki-Szymańska, Anna;
Jezela-Stanek, Aleksandra

Publication type:

Article

Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria.

Published in:

Diagnostics (2075-4418), 2020, v. 10, n. 10, p. 738, doi. 10.3390/diagnostics10100738

By:

Szymańska, Edyta;
Jezela-Stanek, Aleksandra;
Bogdańska, Anna;
Rokicki, Dariusz;
Ehmke vel Emczyńska-Seliga, Ewa;
Pajdowska, Magdalena;
Ciara, Elżbieta;
Tylki-Szymańska, Anna

Publication type:

Article

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Genes, 2022, v. 13, n. 3, p. 477, doi. 10.3390/genes13030477

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Paszkowska, Agata;
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Ciara, Elżbieta;
Mirecka-Rola, Alicja;
Brzezinska, Monika;
Wicher, Dorota;
Kostrzewa, Grażyna;
Sarnecki, Jędrzej;
Ziółkowska, Lidia

Publication type:

Article

Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series.

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Genes, 2020, v. 11, n. 11, p. 1383, doi. 10.3390/genes11111383

By:

Stepien, Karolina M.;
Ciara, Elżbieta;
Jezela-Stanek, Aleksandra

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Article

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.

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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

Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders.

Published in:

PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0238796

By:

Stradomska, Teresa Joanna;
Syczewska, Małgorzata;
Jamroz, Ewa;
Pleskaczyńska, Agata;
Kruczek, Piotr;
Ciara, Elżbieta;
Tylki-Szymanska, Anna

Publication type:

Article

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 72, doi. 10.1002/ajmg.a.37964

By:

Jurkiewicz, Dorota;
Kugaudo, Monika;
Skórka, Agata;
Śmigiel, Robert;
Smyk, Marta;
Ciara, Elżbieta;
Chrzanowska, Krystyna;
Krajewska‐Walasek, Małgorzata

Publication type:

Article

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1647, doi. 10.1002/ajmg.a.37641

By:

Krajewska‐Walasek, Małgorzata;
Jurkiewicz, Dorota;
Piekutowska‐Abramczuk, Dorota;
Kucharczyk, Marzena;
Chrzanowska, Krystyna H.;
Jezela‐Stanek, Aleksandra;
Ciara, Elżbieta

Publication type:

Article

A girl with two syndromes: Turner syndrome and Costello syndrome. A case history.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1486, doi. 10.1002/ajmg.a.35320

By:

Skórka, Agata;
Ciara, Elżbieta;
Gieruszczak-Białek, Dorota;
Pelc, Magdalena;
Kugaudo, Monika;
Chrzanowska, Krystyna;
Krajewska-Walasek, Małgorzata

Publication type:

Article

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

DEFICYT FOSFORYBOZYLOTRANSFERAZY HIPOKSANTYNOGUANINOWEJ - KLINICZNA, BIOCHEMICZNA ORAZ MOLEKULARNA CHARAKTERYSTYKA PACJENTÓW.

Published in:

Przeglad Pediatryczny, 2008, v. 38, n. 3, p. 227

By:

Jurecka, Agnieszka;
Popowska, Ewa;
Tylki-Szymańska, Anna;
Kubalska, Jolanta;
Ciara, Elzbieta;
Krumina, Zita;
Sykut-Cegielska, Jolanta;
Pronicka, Ewa

Publication type:

Article

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