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257 results for Ploski,+Rafal

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Select record 21
ArticlesPeer ReviewedFull Text
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations
Author / Creator:Ciara, Elżbieta ; Rokicki, Dariusz ; Lazniewski, Michal ; Mierzewska, Hanna ; Jurkiewicz, Elżbieta ; Bekiesińska-Figatowska, Monika ; Piekutowska-Abramczuk, Dorota ; Iwanicka-Pronicka, Katarzyna ; Szymańska, Edyta ; Stawiński, Piotr ; Kosińska, Joanna ; Pollak, Agnieszka ; Pronicki, Maciej ; Plewczyński, Dariusz ; Płoski, Rafał ; Pronicka, Ewa
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2018-04, Vol.63 (4), p.473-485
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Allogenic Adipose-Derived Stem Cells in Diabetic Foot Ulcer Treatment: Clinical Effectiveness, Safety, Survival in the Wound Site, and Proteomic Impact
Author / Creator:Mrozikiewicz-Rakowska, Beata ; Szabłowska-Gadomska, Ilona ; Cysewski, Dominik ; Rudziński, Stefan ; Płoski, Rafał ; Gasperowicz, Piotr ; Konarzewska, Magdalena ; Zieliński, Jakub ; Mieczkowski, Mateusz ; Sieńko, Damian ; Grzela, Tomasz ; Noszczyk, Maria ; Paleska, Barbara ; Czupryniak, Leszek ; Lewandowska-Szumiel, Malgorzata
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-01, Vol.24 (2), p.1472
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Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report
Author / Creator:Zakrzewska-Koperska, Joanna ; Franaszczyk, Maria ; Bilińska, Zofia ; Truszkowska, Grażyna ; Karczmarz, Małgorzata ; Szumowski, Łukasz ; Zieliński, Tomasz ; Płoski, Rafał ; Bilińska, Maria
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2018-06, Vol.19 (1), p.94-94, Article 94
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A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum
Author / Creator:Frasuńska, Justyna ; Pollak, Agnieszka ; Turczyn, Paweł ; Kutkowska-Kaźmierczak, Anna ; Pepłowski, Jakub ; Płoski, Rafał ; Tarnacka, Beata
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-01, Vol.15 (1), p.125
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Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation
Author / Creator:Biela, Mateusz ; Rydzanicz, Malgorzata ; Jankowska, Agnieszka ; Szlagatys-Sidorkiewicz, Agnieszka ; Rozensztrauch, Anna ; Płoski, Rafał ; Smigiel, Robert
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-01, Vol.13 (2), p.168
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Select record 26
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Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors
Author / Creator:Grzywa, Tomasz M ; Koppolu, Agnieszka A ; Paskal, Wiktor ; Klicka, Klaudia ; Rydzanicz, Małgorzata ; Wejman, Jarosław ; Płoski, Rafał ; Włodarski, Paweł K
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2021-04, Vol.22 (8), p.3886
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Select record 27
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Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss
Author / Creator:Pollak, Agnieszka ; Lechowicz, Urszula ; Kędra, Anna ; Stawiński, Piotr ; Rydzanicz, Małgorzata ; Furmanek, Mariusz ; Brzozowska, Małgorzata ; Mrówka, Maciej ; Skarżyński, Henryk ; Skarżyński, Piotr H ; Ołdak, Monika ; Płoski, Rafał
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-12, Vol.11 (12), p.e0166618-e0166618
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Select record 28
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The impact of HLA-G, LILRB1 and LILRB2 gene polymorphisms on susceptibility to and severity of endometriosis
Author / Creator:Bylińska, Aleksandra ; Wilczyńska, Karolina ; Malejczyk, Jacek ; Milewski, Łukasz ; Wagner, Marta ; Jasek, Monika ; Niepiekło-Miniewska, Wanda ; Wiśniewski, Andrzej ; Płoski, Rafał ; Barcz, Ewa ; Roszkowski, Piotr ; Kamiński, Paweł ; Malinowski, Andrzej ; Wilczyński, Jacek R. ; Radwan, Paweł ; Radwan, Michał ; Kuśnierczyk, Piotr ; Nowak, Izabela
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Molecular genetics and genomics : MGG, 2018-06, Vol.293 (3), p.601-613
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Select record 29
ArticlesPeer ReviewedFull Text
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
Author / Creator:Paprocka, Justyna ; Jezela-Stanek, Aleksandra ; Śmigiel, Robert ; Walczak, Anna ; Mierzewska, Hanna ; Kutkowska-Kaźmierczak, Anna ; Płoski, Rafał ; Emich-Widera, Ewa ; Steinborn, Barbara
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-04, Vol.14 (5), p.972
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Select record 30
ArticlesPeer ReviewedFull Text
Next-generation sequencing analysis of a cluster of hepatitis C virus infections in a haematology and oncology center
Author / Creator:Caraballo Cortes, Kamila ; Rosińska, Magdalena ; Janiak, Maciej ; Stępień, Małgorzata ; Zagordi, Osvaldo ; Perlejewski, Karol ; Osuch, Sylwia ; Pawełczyk, Agnieszka ; Bukowska-Ośko, Iwona ; Płoski, Rafał ; Grabarczyk, Piotr ; Laskus, Tomasz ; Radkowski, Marek
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-03, Vol.13 (3), p.e0194816-e0194816
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Select record 31
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Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients
Author / Creator:Lipiński, Patryk ; Szczałuba, Krzysztof ; Buda, Piotr ; Zakharova, Ekaterina Y ; Baydakova, Galina ; Ługowska, Agnieszka ; Różdzyńska-Świątkowska, Agnieszka ; Cyske, Zuzanna ; Węgrzyn, Grzegorz ; Pollak, Agnieszka ; Płoski, Rafał ; Tylki-Szymańska, Anna
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-09, Vol.23 (19), p.11424
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Select record 32
ArticlesPeer ReviewedFull Text
A Machine-Learning-Based Approach to Prediction of Biogeographic Ancestry within Europe
Author / Creator:Kloska, Anna ; Giełczyk, Agata ; Grzybowski, Tomasz ; Płoski, Rafał ; Kloska, Sylwester M. ; Marciniak, Tomasz ; Pałczyński, Krzysztof ; Rogalla-Ładniak, Urszula ; Malyarchuk, Boris A. ; Derenko, Miroslava V. ; Kovačević-Grujičić, Nataša ; Stevanović, Milena ; Drakulić, Danijela ; Davidović, Slobodan ; Spólnicka, Magdalena ; Zubańska, Magdalena ; Woźniak, Marcin
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2023-10, Vol.24 (20), p.15095
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Select record 33
ArticlesPeer ReviewedFull Text
Gender-dependent and age-of-onset-specific association of the rs11675434 single-nucleotide polymorphism near TPO with susceptibility to Graves' ophthalmopathy
Author / Creator:Kuś, Aleksander ; Szymański, Konrad ; Jurecka-Lubieniecka, Beata ; Pawlak-Adamska, Edyta ; Kula, Dorota ; Miśkiewicz, Piotr ; Bolanowski, Marek ; Płoski, Rafał ; Bossowski, Artur ; Daroszewski, Jacek ; Jarząb, Barbara ; Bednarczuk, Tomasz
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-03, Vol.62 (3), p.373-377
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Select record 34
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Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias
Author / Creator:Stembalska, Agnieszka ; Rydzanicz, Małgorzata ; Klaniewska, Magdalena ; Dudarewicz, Lech ; Pollak, Agnieszka ; Biela, Mateusz ; Stawinski, Piotr ; Ploski, Rafal ; Smigiel, Robert
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-07, Vol.13 (8), p.1339
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Select record 35
ArticlesPeer ReviewedFull Text
Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression
Author / Creator:Rydzanicz, Małgorzata ; Wachowska, Małgorzata ; Cook, Erik C ; Lisowski, Paweł ; Kuźniewska, Bożena ; Szymańska, Krystyna ; Diecke, Sebastian ; Prigione, Alessandro ; Szczałuba, Krzysztof ; Szybińska, Aleksandra ; Koppolu, Agnieszka ; Murcia Pienkowski, Victor ; Kosińska, Joanna ; Wiweger, Małgorzata ; Kostrzewa, Grażyna ; Brzozowska, Małgorzata ; Domańska-Pakieła, Dorota ; Jurkiewicz, Elżbieta ; Stawiński, Piotr ; Gromadka, Agnieszka ; Zielenkiewicz, Piotr ; Demkow, Urszula ; Dziembowska, Magdalena ; Kuźnicki, Jacek ; Creamer, Trevor P ; Płoski, Rafał
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-01, Vol.27 (1), p.61-69
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Select record 36
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Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay
Author / Creator:Ścieżyńska, Aneta ; Ruszkowska, Ewelina ; Szulborski, Kamil ; Rydz, Katarzyna ; Wierzbowska, Joanna ; Kosińska, Joanna ; Rękas, Marek ; Płoski, Rafał ; Szaflik, Jacek Paweł ; Ołdak, Monika
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-08, Vol.12 (8), p.e0183866-e0183866
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Select record 37
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Haplotype dependent association of rs7927894 (11q13.5) with atopic dermatitis and chronic allergic rhinitis: A study in ECAP cohort
Author / Creator:Ponińska, Joanna Kinga ; Samoliński, Bolesław ; Tomaszewska, Aneta ; Raciborski, Filip ; Samel-Kowalik, Piotr ; Walkiewicz, Artur ; Lipiec, Agnieszka ; Piekarska, Barbara ; Krzych-Fałta, Edyta ; Namysłowski, Andrzej ; Kostrzewa, Grażyna ; Pawlik, Andrzej ; Jasek, Monika ; Wiśniewski, Andrzej ; Kuśnierczyk, Piotr ; Majewski, Sławomir ; Płoski, Rafał
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-09, Vol.12 (9), p.e0183922-e0183922
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Select record 38
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Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene
Author / Creator:Skorczyk-Werner, Anna ; Chiang, Wei-Chieh ; Wawrocka, Anna ; Wicher, Katarzyna ; Jarmuż-Szymczak, Małgorzata ; Kostrzewska-Poczekaj, Magdalena ; Jamsheer, Aleksander ; Płoski, Rafał ; Rydzanicz, Małgorzata ; Pojda-Wilczek, Dorota ; Weisschuh, Nicole ; Wissinger, Bernd ; Kohl, Susanne ; Lin, Jonathan H ; Krawczyński, Maciej R
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-11, Vol.25 (11), p.1210-1216
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Select record 39
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A Novel WT1 Mutation Identified in a 46,XX Testicular/Ovotesticular DSD Patient Results in the Retention of Intron 9
Author / Creator:Sirokha, Dmytro ; Gorodna, Olexandra ; Vitrenko, Yakov ; Zelinska, Nataliya ; Ploski, Rafal ; Nef, Serge ; Jaruzelska, Jadwiga ; Kusz-Zamelczyk, Kamila ; Livshits, Ludmila
Publisher:Switzerland: MDPI AG
Journal title:Biology (Basel, Switzerland), 2021-11, Vol.10 (12), p.1248
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Select record 40
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Celiac Disease in Conjunction with Hereditary Fructose Intolerance as a Rare Cause of Liver Steatosis with Mild Hypertransaminasemia—A Case Report
Author / Creator:Bobrus-Chociej, Anna ; Pollak, Agnieszka ; Kopiczko, Natalia ; Flisiak-Jackiewicz, Marta ; Płoski, Rafał ; Lebensztejn, Dariusz M.
Publisher:Basel: MDPI AG
Journal title:Pediatric reports, 2021-11, Vol.13 (4), p.589-593
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Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations

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Allogenic Adipose-Derived Stem Cells in Diabetic Foot Ulcer Treatment: Clinical Effectiveness, Safety, Survival in the Wound Site, and Proteomic Impact

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Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report

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A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum

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Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation

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Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors

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Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss

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The impact of HLA-G, LILRB1 and LILRB2 gene polymorphisms on susceptibility to and severity of endometriosis

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Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients

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Next-generation sequencing analysis of a cluster of hepatitis C virus infections in a haematology and oncology center

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Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients

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A Machine-Learning-Based Approach to Prediction of Biogeographic Ancestry within Europe

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Gender-dependent and age-of-onset-specific association of the rs11675434 single-nucleotide polymorphism near TPO with susceptibility to Graves' ophthalmopathy

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Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias

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Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

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Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay

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Haplotype dependent association of rs7927894 (11q13.5) with atopic dermatitis and chronic allergic rhinitis: A study in ECAP cohort

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Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene

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A Novel WT1 Mutation Identified in a 46,XX Testicular/Ovotesticular DSD Patient Results in the Retention of Intron 9

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Celiac Disease in Conjunction with Hereditary Fructose Intolerance as a Rare Cause of Liver Steatosis with Mild Hypertransaminasemia—A Case Report

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