Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Ewelina Łazarczyk"'
Autor:
Magdalena Pasińska, Rafał Adamczak, Anna Repczyńska, Ewelina Łazarczyk, Barbara Iskra, Agata Klaudia Runge, Olga Haus
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-8 (2019)
Abstract Background The 3q duplication syndrome is a result of duplication of a large fragment of the long arm of chromosome 3, mainly 3q21-qter, and in most cases it is diagnosed only after birth. The phenotypic consequences resulting from genetic i
Externí odkaz:
https://doaj.org/article/ebda03284306475f8988219837df0aed
Autor:
Magdalena Pasińska, Ewelina Łazarczyk, Katarzyna Jułga, Magdalena Bartnik-Głaska, Beata Nowakowska, Olga Haus
Publikováno v:
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-7 (2018)
Abstract Background Balanced reciprocal chromosomal translocations (RCTs) are the ones of the most common structural aberrations in the population, with an incidence of 1:625. RCT carriers usually do not demonstrate changes in phenotype, except when
Externí odkaz:
https://doaj.org/article/43a46dd86d4842c79e17db8dc0e7fd23
Autor:
Magdalena Pasińska, Ewelina Łazarczyk, Anna Repczyńska, Agnieszka Sobczyńska-Tomaszewska, Janusz Zimowski, Agata Runge, Olga Haus
Publikováno v:
The Application of Clinical Genetics. 15:27-38
Magdalena Pasińska,1 Ewelina Łazarczyk,1 Anna Repczyńska,1 Agnieszka Sobczyńska-Tomaszewska,2 Janusz Zimowski,3 Agata Runge,1 Olga Haus1 1Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efedb4663e7698134ed38f31120921f6
https://doi.org/10.2147/tacg.s357136
https://doi.org/10.2147/tacg.s357136
Publikováno v:
International Journal of Women's Health.
Magdalena Pasińska,1,* Emilia Balcerek,1,* Anna Repczyńska,2,* Ewelina Łazarczyk2,* 1Department of Clinical Genetics, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, Toruń, Poland; 2Diagnost
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2946968c4eab35eba5c39942209f2add
https://www.dovepress.com/the-levels-of-pregnancy-associated-plasma-protein-papp-a-and-chorionic-peer-reviewed-fulltext-article-IJWH
https://www.dovepress.com/the-levels-of-pregnancy-associated-plasma-protein-papp-a-and-chorionic-peer-reviewed-fulltext-article-IJWH
Publikováno v:
Postępy Higieny i Medycyny Doświadczalnej. 75:116-121
Streszczenie Około 15–25% ciąż kończy się poronieniem samoistnym, czyli wydaleniem z organizmu matki zarodka bądź płodu o masie poniżej 500 g lub przed 20. tygodniem trwania ciąży. Ustalenie etiologii poronień jest trudne ze względu na
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cec1838755081d4076044c7ce31056ff
https://doi.org/10.5604/01.3001.0014.7758
https://doi.org/10.5604/01.3001.0014.7758
Autor:
Barbara Iskra, Ewelina Łazarczyk, Rafał Adamczak, Anna Repczyńska, Magdalena Pasińska, Olga Haus, Agata Runge
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-8 (2019)
BMC Medical Genomics
BMC Medical Genomics
Background The 3q duplication syndrome is a result of duplication of a large fragment of the long arm of chromosome 3, mainly 3q21-qter, and in most cases it is diagnosed only after birth. The phenotypic consequences resulting from genetic imbalance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f49d6fba272f3ba07aa5688cbe03eef5
http://link.springer.com/article/10.1186/s12920-019-0547-y
http://link.springer.com/article/10.1186/s12920-019-0547-y
Autor:
Ewelina Łazarczyk, Agnieszka Kozłowska, Sylwia Kołtan, Anna Repczyńska, Barbara Tejza, Elżbieta Grześk
Publikováno v:
Pediatria Polska. 90:345-350
Emanuel syndrome is a rare congenital condition affecting the function of many organs and disrupting the child's regular development. Similarly to the Emanuel syndrome, the DiGeorge syndrome has a genetic background and has a heterogeneous phenotype.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f1baabbd3baf9d8bbbdbc316bb99f47f
https://doi.org/10.1016/j.pepo.2015.04.008
https://doi.org/10.1016/j.pepo.2015.04.008
Autor:
Anna Repczynska, Katarzyna Julga, Jolanta Skalska-Sadowska, Magdalena M. Kacprzak, Alicja Bartoszewska-Kubiak, Ewelina Lazarczyk, Damian Loska, Malgorzata Drozniewska, Kamila Czerska, Jacek Wachowiak, Olga Haus
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Background Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome. However, establishing its molecular diagnosis remains challenging. Chromosomal breakage analysis is the gold standard diagnostic test for this disease.
Externí odkaz:
https://doaj.org/article/84c419063b4f47a8888957f21c0aac58