<i>SERPINA1</i> and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin Deficiency

by Aleksandra Jezela-Stanek, Joanna Chorostowska-Wynimko
Published 2023-02-01

Noninvasive prenatal testing of aneuploidies: where are we now?

by Aleksandra Jezela-Stanek, Małgorzata Krajewska-Walasek
Published 2014-09-01

Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG—An Observational Study and Literature Review

by Michal Hutny, Patryk Lipinski, Aleksandra Jezela-Stanek
Published 2023-05-01

Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome – Literature Review

by Przemyslaw Kosinski, Milena Greczan, Aleksandra Jezela-Stanek
Published 2021-06-01

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

by Aleksandra Jezela-Stanek, Elżbieta Ciara, Karolina M. Stepien
Published 2020-06-01

Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment

by Dorota Wesół-Kucharska, Dariusz Rokicki, Aleksandra Jezela-Stanek
Published 2021-06-01

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

by Karolina M. Stepien, Elżbieta Ciara, Aleksandra Jezela-Stanek
Published 2020-11-01

Nonimmune Hydrops Fetalis—Prenatal Diagnosis, Genetic Investigation, Outcomes and Literature Review

by Przemyslaw Kosinski, Pawel Krajewski, Miroslaw Wielgos, Aleksandra Jezela-Stanek
Published 2020-06-01

Editorial: Inherited Protein Glycosylation Defects in Humans

by Aleksandra Jezela-Stanek, Karolina M. Stepien, Anna Tylki-Szymanska
Published 2022-03-01

Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases

by Aleksandra Jezela-Stanek, Grazina Kleinotiene, Karolina Chwialkowska, Anna Tylki-Szymańska
Published 2021-10-01

Congenital Disorders of Glycosylation from a Neurological Perspective

by Justyna Paprocka, Aleksandra Jezela-Stanek, Anna Tylki-Szymańska, Stephanie Grunewald
Published 2021-01-01

Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein

by Urszula Lechowicz, Stefan Rudzinski, Aleksandra Jezela-Stanek, Sabina Janciauskiene, Joanna Chorostowska-Wynimko
Published 2020-12-01

Computational Tools to Assist in Analyzing Effects of the <i>SERPINA1</i> Gene Variation on Alpha-1 Antitrypsin (AAT)

by Jakub Mróz, Magdalena Pelc, Karolina Mitusińska, Joanna Chorostowska-Wynimko, Aleksandra Jezela-Stanek
Published 2024-03-01

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

by Patryk Lipiński, Karolina M. Stępień, Elżbieta Ciara, Anna Tylki-Szymańska, Aleksandra Jezela-Stanek
Published 2021-08-01

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the <i>MOCS2</i> Gene

by Aleksandra Jezela-Stanek, Witold Blaz, Artur Gora, Malgorzata Bochenska, Katarzyna Kusmierska, Jolanta Sykut-Cegielska
Published 2020-10-01

Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis

by Milena Greczan, Dariusz Rokicki, Dorota Wesół-Kucharska, Magdalena Kaczor, Agata Rawiak, Aleksandra Jezela-Stanek
Published 2022-12-01

Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG

by Karolina Mitusińska, Artur Góra, Anna Bogdańska, Agnieszka Rożdżyńska-Świątkowska, Anna Tylki-Szymańska, Aleksandra Jezela-Stanek
Published 2022-03-01

The genetic basis of classical galactosaemia in Polish patients

by Aleksandra Jezela-Stanek, Anna Bauer, Katarzyna Wertheim-Tysarowska, Jerzy Bal, Agnieszka Magdalena Rygiel, Jolanta Sykut-Cegielska
Published 2021-05-01

Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication

by Marzena Kucharczyk, Aleksandra Jezela-Stanek, Dorota Gieruszczak-Bialek, Monika Kugaudo, Agata Cieslikowska, Magdalena Pelc, Malgorzata Krajewska-Walasek
Published 2015-06-01

How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review

by Miroslaw Wielgos, Przemyslaw Kosinski, Piotr Jedrzejak, Małgorzata Krajewska-Walasek, Magdalena Bartnik-Glaska, Beata Nowakowska, Aleksandra Jezela-Stanek
Published 2021-11-01