Zobrazeno 1 - 10
of 112
pro vyhledávání: '"Ewa, Obersztyn"'
Autor:
Ewelina Bukowska-Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, Maria Jędrzejowska, Ewa Obersztyn, Michał Piechota, Marta Bielska, Aleksander Jamsheer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that results from pathogenic variants in the EFNB1 gene. The syndrome paradoxically presents with greater severity of the symptoms in heterozygous females than hemizygo
Externí odkaz:
https://doaj.org/article/c556ad21e95f41e689dfb1734e63e949
Autor:
Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Machteld M. Oud
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing significant phenotypic overlap are known as skeletal ciliopathies and include Jeune asphyxiating tho
Externí odkaz:
https://doaj.org/article/093c479a2afb4c8eb2eb56f757584e8d
Autor:
Justyna Domaradzka, Marta Deperas, Ewa Obersztyn, Anna Kucińska-Chahwan, Nathalie Brison, Kris Van Den Bogaert, Tomasz Roszkowski, Marta Kędzior, Magdalena Bartnik-Głaska, Alicja Łuszczek, Krystyna Jakubów-Durska, Joris Robert Vermeesch, Beata Anna Nowakowska
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-7 (2021)
Abstract Background Non-invasive prenatal testing (NIPT) is a rapidly developing and widely used method in the prenatal screening. Recently, the widespread use of the NIPT caused a neglecting of the limitations of this technology. Case presentation T
Externí odkaz:
https://doaj.org/article/a67ed2280dd243d3952aab7386c1aa2c
Autor:
Allan Bayat, Manuela Pendziwiat, Ewa Obersztyn, Paula Goldenberg, Pia Zacher, Jan Henje Döring, Steffen Syrbe, Amber Begtrup, Artem Borovikov, Artem Sharkov, Aneta Karasińska, Maria Giżewska, Wendy Mitchell, Eva Morava, Rikke S. Møller, Guido Rubboli
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
The two aims of this study were (i) to describe and expand the phenotypic spectrum of PIGT deficiency in affected individuals harboring the c.1582G>A; p.Val528Met or the c.1580A > G; p.Asn527Ser variant in either homozygous or compound heterozygous s
Externí odkaz:
https://doaj.org/article/b8ca8cd0befe4ae3a52d7cd5facc0408
Autor:
Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M. Krawitz
Publikováno v:
Genome Medicine, Vol 10, Iss 1, Pp 1-13 (2018)
Abstract Background Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresp
Externí odkaz:
https://doaj.org/article/65a240001c28434ca259e07e806334ff
Autor:
Katarzyna Kowalczyk, Marta Smyk, Magdalena Bartnik-Głaska, Izabela Plaskota, Barbara Wiśniowiecka-Kowalnik, Joanna Bernaciak, Marta Chojnacka, Magdalena Paczkowska, Magdalena Niemiec, Daria Dutkiewicz, Agata Kozar, Róża Magdziak, Wojciech Krawczyk, Grzegorz Pietras, Elżbieta Michalak, Teresa Klepacka, Ewa Obersztyn, Jerzy Bal, Beata Anna Nowakowska
Publikováno v:
Journal of Assisted Reproduction and Genetics. 39:357-367
Spontaneous abortion occurs in 8–20% of recognized pregnancies and usually takes place in the first trimester (7–11 weeks). There are many causes of pregnancy loss, but the most important (about 75%) is the presence of chromosomal aberrations. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e9d47d1433dae8abffc263d604da45b
https://doi.org/10.1007/s10815-022-02400-8
https://doi.org/10.1007/s10815-022-02400-8
Autor:
Joanna, Walczak-Sztulpa, Anna, Wawrocka, Cenna, Doornbos, Ronald, van Beek, Anna, Sowińska-Seidler, Aleksander, Jamsheer, Ewelina, Bukowska-Olech, Anna, Latos-Bieleńska, Ryszard, Grenda, Ernie M H F, Bongers, Miriam, Schmidts, Ewa, Obersztyn, Maciej R, Krawczyński, Machteld M, Oud
Publikováno v:
Frontiers in genetics. 13
Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing significant phenotypic overlap are known as skeletal ciliopathies and include Jeune asphyxiating tho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3e68082aacf038418306d3958dd84b6e
https://pubmed.ncbi.nlm.nih.gov/35873489
https://pubmed.ncbi.nlm.nih.gov/35873489
Autor:
Anna Kucińska-Chahwan, Maciej Geremek, Tomasz Roszkowski, Julia Bijok, Diana Massalska, Michał Ciebiera, Hildeberto Correia, Iris Pereira-Caetano, Ana Barreta, Ewa Obersztyn, Anna Kutkowska-Kaźmierczak, Paweł Własienko, Małgorzata Krajewska-Walasek, Piotr Węgrzyn, Lech Dudarewicz, Waldemar Krzeszowski, Magda Rybak-Krzyszkowska, Beata Nowakowska
Publikováno v:
Genes; Volume 13; Issue 5; Pages: 724
This article belongs to the Special Issue Novel Insights into Prenatal Genetic Testing. Background: Despite advances in routine prenatal cytogenetic testing, most anomalous fetuses remain without a genetic diagnosis. Exome sequencing (ES) is a molecu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7ef872ed2d51d2197a0c295c7a0d632
Autor:
Heleen H. Arts, Boyana Mikulska, Maciej R Krawczyński, Beata Leszczyńska, Maria Daniel, Anna Wawrocka, Ewelina Bukowska-Olech, Anna Latos-Bielenska, Ewa Obersztyn, Joanna Walczak-Sztulpa
Publikováno v:
American Journal of Medical Genetics Part A. 182:2417-2425
The ciliary chondrodysplasias represent a group of clinically and genetically heterogeneous disorders that affect skeleton development. Cilia are organelles that project from the surface of many cell types and play an important role during prenatal a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1f30460e4cc44b92402c782f45f3e3e0
https://doi.org/10.1002/ajmg.a.61785
https://doi.org/10.1002/ajmg.a.61785
Autor:
Katarzyna Bzdęga, Anna Kutkowska-Kaźmierczak, Gail H. Deutsch, Izabela Plaskota, Marta Smyk, Magdalena Niemiec, Artur Barczyk, Ewa Obersztyn, Jan Modzelewski, Iwona Lipska, Paweł Stankiewicz, Marzena Gajecka, Małgorzata Rydzanicz, Rafał Płoski, Tomasz Szczapa, Justyna A. Karolak
Publikováno v:
Genes. 14:563
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by the arrest of fetal lung formation, resulting in neonatal death due to acute respiratory failure and pulmonary arterial hyper
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::63e1431ddc7315c341edad4cf1021c14
https://doi.org/10.3390/genes14030563
https://doi.org/10.3390/genes14030563