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The genetic basis of classical galactosaemia in Polish patients
Author / Creator:Jezela-Stanek, Aleksandra ; Bauer, Anna ; Wertheim-Tysarowska, Katarzyna ; Bal, Jerzy ; Rygiel, Agnieszka Magdalena ; Sykut-Cegielska, Jolanta
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.1-239, Article 239
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Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss
Author / Creator:Kowalczyk, Katarzyna ; Smyk, Marta ; Bartnik-Głaska, Magdalena ; Plaskota, Izabela ; Wiśniowiecka-Kowalnik, Barbara ; Bernaciak, Joanna ; Chojnacka, Marta ; Paczkowska, Magdalena ; Niemiec, Magdalena ; Dutkiewicz, Daria ; Kozar, Agata ; Magdziak, Róża ; Krawczyk, Wojciech ; Pietras, Grzegorz ; Michalak, Elżbieta ; Klepacka, Teresa ; Obersztyn, Ewa ; Bal, Jerzy ; Nowakowska, Beata Anna
Publisher:New York: Springer US
Journal title:Journal of assisted reproduction and genetics, 2022-02, Vol.39 (2), p.357-367
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Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients
Author / Creator:Koziorowski, Dariusz ; Hoffman-Zacharska, Dorota ; Sławek, Jarosław ; Jamrozik, Zygmunt ; Janik, Piotr ; Potulska-Chromik, Anna ; Roszmann, Anna ; Tataj, Renata ; Bal, Jerzy ; Friedman, Andrzej
Publisher:Poland: Elsevier Urban & Partner Sp. z o.o
Journal title:Neurologia i neurochirurgia polska, 2013, Vol.47 (4), p.319-324
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Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients
Author / Creator:Kupka, Susan ; Tóth, Tímea ; Wróbel, Maciej ; Zeißler, Ulrike ; Szyfter, Witold ; Szyfter, Krzysztof ; Niedzielska, Grazyna ; Bal, Jerzy ; Zenner, Hans-Peter ; Sziklai, István ; Blin, Nikolaus ; Pfister, Markus
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2002-03, Vol.19 (3), p.308-309
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De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome
Author / Creator:Dawidziuk, Mateusz ; Kutkowska-Kazmierczak, Anna ; Bukowska-Olech, Ewelina ; Jurek, Marta ; Kalka, Ewa ; Guilbride, Dorothy Lys ; Furmanek, Mariusz Ireneusz ; Bekiesinska-Figatowska, Monika ; Bal, Jerzy ; Gawlinski, Pawel
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-01, Vol.23 (2), p.692
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Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma–Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances
Author / Creator:Braun-Walicka, Natalia ; Pluta, Agnieszka ; Wolak, Tomasz ; Maj, Edyta ; Maryniak, Agnieszka ; Gos, Monika ; Abramowicz, Anna ; Landowska, Aleksandra ; Obersztyn, Ewa ; Bal, Jerzy
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-12, Vol.14 (12), p.2173
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Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series
Author / Creator:Charzewska, Agnieszka ; Terczyńska, Iwona ; Lipiec, Agata ; Mazurczak, Tomasz ; Górka-Skoczylas, Paulina ; Szlendak, Róża ; Kanabus, Karolina ; Tataj, Renata ; Dawidziuk, Mateusz ; Wojtaś, Bartosz ; Gielniewski, Bartłomiej ; Bal, Jerzy ; Stawicka, Elżbieta ; Hoffman-Zacharska, Dorota
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-01, Vol.24 (2), p.1117
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A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis
Author / Creator:Kujko, Aleksandra A ; Berki, Dorottya M. ; Oracz, Grzegorz ; Wejnarska, Karolina ; Antoniuk, Justyna ; Wertheim-Tysarowska, Katarzyna ; Kołodziejczyk, Elwira ; Bal, Jerzy ; Sahin-Tóth, Miklós ; Rygiel, Agnieszka M
Publisher:England: BMJ Publishing Group LTD
Journal title:Gut, 2017-09, Vol.66 (9), p.1728-1730
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Comprehensive genomic analysis of patients with disorders of cerebral cortical development
Author / Creator:Wiszniewski, Wojciech ; Gawlinski, Pawel ; Gambin, Tomasz ; Bekiesinska-Figatowska, Monika ; Obersztyn, Ewa ; Antczak-Marach, Dorota ; Zeynep Hande Coban Akdemir ; Harel, Tamar ; Karaca, Ender ; Jurek, Marta ; Sobecka, Katarzyna ; Nowakowska, Beata ; Kruk, Malgorzata ; Terczynska, Iwona ; Goszczanska-Ciuchta, Alicja ; Rudzka-Dybala, Mariola ; Jamroz, Ewa ; Pyrkosz, Antoni ; Jakubiuk-Tomaszuk, Anna ; Iwanowski, Piotr ; Gieruszczak-Bialek, Dorota ; Piotrowicz, Malgorzata ; Sasiadek, Maria ; Kochanowska, Iwona ; Gurda, Barbara ; Steinborn, Barbara ; Dawidziuk, Mateusz ; Castaneda, Jennifer ; Wlasienko, Pawel ; Bezniakow, Natalia ; Jhangiani, Shalini N ; Hoffman-Zacharska, Dorota ; Bal, Jerzy ; Szczepanik, Elzbieta ; Boerwinkle, Eric ; Gibbs, Richard A ; Lupski, James R
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-08, Vol.26 (8), p.1121-1131
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Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings
Author / Creator:Wertheim-Tysarowska, Katarzyna ; Osipowicz, Katarzyna ; Woźniak, Katarzyna ; Sawicka, Justyna ; Mika, Adrianna ; Kutkowska-Kaźmierczak, Anna ; Niepokój, Katarzyna ; Sobczyńska-Tomaszewska, Agnieszka ; Wawrzycki, Bartłomiej ; Pietrzak, Aldona ; Śmigiel, Robert ; Wojtaś, Bartosz ; Gielniewski, Bartłomiej ; Szabelska-Beresewicz, Alicja ; Zyprych-Walczak, Joanna ; Rygiel, Agnieszka Magdalena ; Domaszewicz, Alicja ; Braun-Walicka, Natalia ; Grabarczyk, Alicja ; Rzońca-Niewczas, Sylwia ; Lidia, Ruszkowska ; Dawidziuk, Mateusz ; Domański, Dominik ; Gambin, Tomasz ; Jackiewicz, Monika ; Duk, Katarzyna ; Dorożko, Barbara ; Szczygielski, Orest ; Krześniak, Natalia ; Noszczyk, Bartłomiej H ; Obersztyn, Ewa ; Wierzba, Jolanta ; Barczyk, Artur ; Castaneda, Jennifer ; Eckersdorf-Mastalerz, Anna ; Jakubiuk-Tomaszuk, Anna ; Własienko, Paweł ; Jaszczuk, Ilona ; Jezela-Stanek, Aleksandra ; Klapecki, Jakub ; van Geel, Michel ; Kowalewski, Cezary ; Bal, Jerzy ; Gostyński, Antoni
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-11, Vol.19 (1), p.413-14, Article 413
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Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy
Author / Creator:Sobczyńska-Tomaszewska, Agnieszka ; Ołtarzewski, Mariusz ; Czerska, Kamila ; Wertheim-Tysarowska, Katarzyna ; Sands, Dorota ; Walkowiak, Jarosław ; Bal, Jerzy ; Mazurczak, Tadeusz
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-04, Vol.21 (4), p.391-396
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WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability
Author / Creator:Rzońca-Niewczas, Sylwia ; Wierzba, Jolanta ; Kaczorowska, Ewa ; Poryszewska, Milena ; Kosińska, Joanna ; Stawiński, Piotr ; Płoski, Rafał ; Bal, Jerzy
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-11, Vol.12 (12), p.1911
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The retrospective molecular analysis of large or giant congenital melanocytic nevi in a group of Polish children
Author / Creator:Wertheim-Tysarowska, Katarzyna ; Szczygielski, Orest ; Seliga, Katarzyna ; Tysarowski, Andrzej ; Bal, Jerzy ; Michalak, Elżbieta ; Rygiel, Agnieszka Magdalena ; Sawicka, Ewa
Publisher:Poland: Sciendo
Journal title:Journal of Mother and Child, 2021-10, Vol.25 (1), p.19-24
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Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients with Orofacial Clefting
Author / Creator:Charzewska, Agnieszka ; Obersztyn, Ewa ; Hoffman-Zacharska, Dorota ; Lenart, Jacek ; Poznański, Jarosław ; Bal, Jerzy
Publisher:Los Angeles, CA: SAGE Publications
Journal title:The Cleft palate-craniofacial journal, 2015-09, Vol.52 (5), p.161-167
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Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or...
Author / Creator:Kutkowska-Kaźmierczak, Anna ; Boczar, Maria ; Kalka, Ewa ; Castañeda, Jennifer ; Klapecki, Jakub ; Pietrzyk, Aleksandra ; Barczyk, Artur ; Malinowska, Olga ; Landowska, Aleksandra ; Gambin, Tomasz ; Kowalczyk, Katarzyna ; Wiśniowiecka-Kowalnik, Barbara ; Smyk, Marta ; Dawidziuk, Mateusz ; Niepokój, Katarzyna ; Paczkowska, Magdalena ; Szyld, Paweł ; Lipska-Ziętkiewicz, Beata ; Szczałuba, Krzysztof ; Kostyk, Ewa ; Runge, Agata ; Rutkowska, Karolina ; Płoski, Rafał ; Nowakowska, Beata ; Bal, Jerzy ; Obersztyn, Ewa ; Gos, Monika
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-08, Vol.12 (8), p.1257
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Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family
Author / Creator:Niepokój, Katarzyna ; Rygiel, Agnieszka M. ; Jurczak, Piotr ; Kujko, Aleksandra A ; Śniegórska, Dominika ; Sawicka, Justyna ; Grabarczyk, Alicja ; Bal, Jerzy ; Wertheim-Tysarowska, Katarzyna
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of applied genetics, 2018-02, Vol.59 (1), p.67-72
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Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics
Author / Creator:Kutkowska-Kaźmierczak, Anna ; Niepokój, Katarzyna ; Wertheim-Tysarowska, Katarzyna ; Giza, Aleksandra ; Mordasewicz-Goliszewska, Maria ; Bal, Jerzy ; Obersztyn, Ewa
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of applied genetics, 2015-08, Vol.56 (3), p.329-337
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The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981)
Author / Creator:Dawidziuk, Mateusz ; Kutkowska-Kaźmierczak, Anna ; Gawliński, Paweł ; Wiszniewski, Wojciech ; Gos, Monika ; Stawiński, Piotr ; Rydzanicz, Małgorzata ; Kosińska, Joanna ; Własienko, Paweł ; Malinowska Kordowska, Olga ; Bartnik-Głaska, Magdalena ; Bernaciak, Joanna ; Szczałuba, Krzysztof ; Bekiesińska-Figatowska, Monika ; Płoski, Rafał ; Bal, Jerzy ; Olimpia Rzońca-Niewczas, Sylwia
Publisher:Poland: Sciendo
Journal title:Journal of Mother and Child, 2021-04, Vol.24 (3), p.32-36
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From focal epilepsy to Dravet syndrome – Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit
Author / Creator:Hoffman-Zacharska, Dorota ; Szczepanik, Elżbieta ; Terczynska, Iwona ; Goszczanska-Ciuchta, Alicja ; Zalewska-Miszkurka, Zofia ; Tataj, Renata ; Bal, Jerzy
Publisher:Poland: Elsevier Urban & Partner Sp. z o.o
Journal title:Neurologia i neurochirurgia polska, 2015-01, Vol.49 (4), p.258-266
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Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling
Author / Creator:Hoffman-Zacharska, Dorota ; Mazurczak, Tomasz ; Zajkowski, Tomasz ; Tataj, Renata ; Górka-Skoczylas, Paulina ; Połatyńska, Katarzyna ; Kępczyński, Łukasz ; Stasiołek, Mariusz ; Bal, Jerzy
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of applied genetics, 2016-08, Vol.57 (3), p.349-355
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The genetic basis of classical galactosaemia in Polish patients

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Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss

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Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients

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Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients

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De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome

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Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma–Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances

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Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series

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A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis

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Comprehensive genomic analysis of patients with disorders of cerebral cortical development

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Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings

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Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

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WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability

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The retrospective molecular analysis of large or giant congenital melanocytic nevi in a group of Polish children

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Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients with Orofacial Clefting

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Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or...

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Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family

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Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics

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The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981)

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From focal epilepsy to Dravet syndrome – Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit

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Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling

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