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ArticlesPeer ReviewedFull Text
Achromatopsia mutations target sequential steps of ATF6 activation
Author / Creator:Chiang, Wei-Chieh ; Chan, Priscilla ; Wissinger, Bernd ; Vincent, Ajoy ; Skorczyk-Werner, Anna ; Krawczyński, Maciej R. ; Kaufman, Randal J. ; Tsang, Stephen H. ; Héon, Elise ; Kohl, Susanne ; Lin, Jonathan H.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2017-01, Vol.114 (2), p.400-405
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The genetics of aniridia — simple things become complicated
Author / Creator:Wawrocka, Anna ; Krawczynski, Maciej R.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of applied genetics, 2018-05, Vol.59 (2), p.151-159
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DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients
Author / Creator:Skorczyk-Werner, Anna ; Tońska, Katarzyna ; Maciejczuk, Aleksandra ; Nowomiejska, Katarzyna ; Korwin, Magdalena ; Ołdak, Monika ; Wawrocka, Anna ; Krawczyński, Maciej R.
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-12, Vol.24 (24), p.17496
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ArticlesPeer ReviewedFull Text
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)
Author / Creator:Skorczyk-Werner, Anna ; Niedziela, Zuzanna ; Stopa, Marcin ; Krawczyński, Maciej Robert
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-12, Vol.15 (1), p.345-345, Article 345
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Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver–McFarlane Syndromes
Author / Creator:Wawrocka, Anna ; Walczak-Sztulpa, Joanna ; Kuszel, Lukasz ; Niedziela-Schwartz, Zuzanna ; Skorczyk-Werner, Anna ; Bernardczyk-Meller, Jadwiga ; Krawczynski, Maciej R.
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-06, Vol.25 (11), p.5759
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ArticlesPeer ReviewedFull Text
CDHR1-Related Cone–Rod Dystrophy: Clinical Characteristics, Imaging Findings, and Genetic Test Results—A Case Report
Author / Creator:Sobolewska, Małgorzata ; Świerczyńska, Marta ; Dorecka, Mariola ; Wyględowska-Promieńska, Dorota ; Krawczyński, Maciej R. ; Mrukwa-Kominek, Ewa
Publisher:Switzerland: MDPI AG
Journal title:Medicina (Kaunas, Lithuania), 2023-02, Vol.59 (2), p.399
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ArticlesPeer ReviewedFull Text
Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa
Author / Creator:Wawrocka, Anna ; Socha, Magdalena ; Walczak-Sztulpa, Joanna ; Koczyk, Grzegorz ; Skorczyk-Werner, Anna ; Krawczyński, Maciej R.
Publisher:Switzerland: MDPI AG
Journal title:Diagnostics (Basel), 2023-02, Vol.13 (4), p.730
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Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland
Author / Creator:Matczyńska, Ewa ; Beć-Gajowniczek, Marta ; Sivitskaya, Larysa ; Gregorczyk, Elżbieta ; Łyszkiewicz, Przemysław ; Szymańczak, Robert ; Jędrzejowska, Maria ; Wylęgała, Edward ; Krawczyński, Maciej R. ; Teper, Sławomir ; Boguszewska-Chachulska, Anna
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2024-06, Vol.12 (6), p.1355
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ArticlesPeer ReviewedFull Text
Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS
Author / Creator:Skorczyk-Werner, Anna ; Sowińska-Seidler, Anna ; Wawrocka, Anna ; Walczak-Sztulpa, Joanna ; Krawczyński, Maciej Robert
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of applied genetics, 2023-02, Vol.64 (1), p.89-104
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ArticlesPeer ReviewedFull Text
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)
Author / Creator:Skorczyk-Werner, Anna ; Pawłowski, Przemysław ; Michalczuk, Marta ; Warowicka, Alicja ; Wawrocka, Anna ; Wicher, Katarzyna ; Bakunowicz-Łazarczyk, Alina ; Krawczyński, Maciej R.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of applied genetics, 2015-08, Vol.56 (3), p.317-327
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ArticlesPeer ReviewedFull Text
Current models of care for disorders of sex development – results from an International survey of specialist centres
Author / Creator:Kyriakou, Andreas ; Dessens, Arianne ; Bryce, Jillian ; Iotova, Violeta ; Juul, Anders ; Krawczynski, Maciej ; Nordenskjöld, Agneta ; Rozas, Marta ; Sanders, Caroline ; Hiort, Olaf ; Ahmed, S. Faisal
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2016-11, Vol.11 (1), p.155-155, Article 155
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ArticlesPeer ReviewedFull Text
Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation
Author / Creator:Piotrowska-Nowak Agnieszka ; Krawczyński, Maciej R ; Kosior-Jarecka Ewa ; Ambroziak, Anna M ; Korwin Magdalena ; Ołdak Monika ; Tońska Katarzyna ; Bartnik Ewa
Publisher:New York: Springer Nature B.V
Journal title:Metabolic brain disease, 2020-12, Vol.35 (8), p.1317-1327
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ArticlesPeer ReviewedFull Text
Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family
Author / Creator:Pojda-Wilczek, Dorota ; Wójcik, Justyna ; Kmak, Bożena ; Krawczyński, Maciej Robert
Publisher:Switzerland: MDPI AG
Journal title:Diagnostics (Basel), 2022-11, Vol.12 (11), p.2701
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ArticlesPeer ReviewedFull Text
Standard therapy or additionally radioactive iodine (131I) therapy; which will stop the recurrence of glioblastoma multiforme (GBM)?
Author / Creator:Czarnywojtek, Agata ; Gut, Paweł ; Dyrka, Kamil ; Sowiński, Jerzy ; Sawicka-Gutaj, Nadia ; Katulska, Katarzyna ; Stajgis, Piotr ; Wykrętowicz, Mateusz ; Moskal, Jakub ; Kościński, Jeremi ; Pietrończyk, Krzysztof ; Graczyk, Patryk ; Krawczyński, Maciej Robert ; Florek, Ewa ; Szczepanek-Parulska, Ewelina ; Ruchała, Marek ; Ferlito, Alfio
Publisher:Wydawnictwo Via Medica
Journal title:Endokrynologia polska, 2024-01, Vol.75 (2), p.130-139
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ArticlesPeer ReviewedFull Text
A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment
Author / Creator:Obara-Moszynska, Monika ; Maceluch, Jaroslaw ; Bobkowski, Waldemar ; Baszko, Artur ; Jaremba, Oskar ; Krawczynski, Maciej R ; Niedziela, Marek
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2013-02, Vol.13 (1), p.27-27, Article 27
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11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia
Author / Creator:Wawrocka, Anna ; Sikora, Agata ; Kuszel, Lukasz ; Krawczynski, Maciej R
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of applied genetics, 2013-08, Vol.54 (3), p.345-351
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X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes
Author / Creator:Niedziela, Marek ; Iwaniszewska, Barbara ; Sowinska-Seidler, Anna ; Jamsheer, Aleksander ; Krawczynski, Maciej R. ; Rojek, Aleksandra ; Malunowicz, Ewa
Publisher:Cairo, Egypt: Hindawi Limiteds
Journal title:International Journal of Endocrinology, 2016-01, Vol.2016 (2016), p.672-678-074
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Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment
Author / Creator:Skorczyk-Werner, Anna ; Wawrocka, Anna ; Kochalska, Natalia ; Krawczynski, Maciej Robert
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-12, Vol.13 (1), p.221-221, Article 221
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Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome
Author / Creator:Krzystolik, Karol ; Jakubowska, Anna ; Gronwald, Jacek ; Krawczyński, Maciej R ; Drobek-Słowik, Monika ; Sagan, Leszek ; Cyryłowski, Leszek ; Lubiński, Wojciech ; Lubiński, Jan ; Cybulski, Cezary
Publisher:Poland: BioMed Central Ltd
Journal title:Hereditary cancer in clinical practice, 2014-06, Vol.12 (1), p.16-16, Article 16
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Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland
Author / Creator:Wozniak, Anna ; Wolnik-Brzozowska, Danuta ; Wisniewska, Marzena ; Glazar, Renata ; Materna-Kiryluk, Anna ; Moszura, Tomasz ; Badura-Stronka, Magdalena ; Skolozdrzy, Joanna ; Krawczynski, Maciej R ; Zeyland, Joanna ; Bobkowski, Waldemar ; Slomski, Ryszard ; Latos-Bielenska, Anna ; Siwinska, Aldona
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2010-12, Vol.10 (1), p.88-88, Article 88
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Showing 1 to 20 of 30 results

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Achromatopsia mutations target sequential steps of ATF6 activation

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The genetics of aniridia — simple things become complicated

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DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients

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Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

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Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver–McFarlane Syndromes

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CDHR1-Related Cone–Rod Dystrophy: Clinical Characteristics, Imaging Findings, and Genetic Test Results—A Case Report

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Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa

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Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland

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Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS

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Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)

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Current models of care for disorders of sex development – results from an International survey of specialist centres

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Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation

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Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family

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Standard therapy or additionally radioactive iodine (131I) therapy; which will stop the recurrence of glioblastoma multiforme (GBM)?

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A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment

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11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia

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X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes

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Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment

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Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome

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Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

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