Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Joanna, Bernaciak"'
Publikováno v:
Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-6 (2017)
Abstract Background Three distinct contiguous gene deletion syndromes are located at 10p chromosomal region. The deletion, involving 10p15.3 region, has been characterized by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012). However, because of
Externí odkaz:
https://doaj.org/article/a1dd49b038334268a601b537fef8b531
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:
Mateusz, Dawidziuk, Anna, Kutkowska-Kaźmierczak, Paweł, Gawliński, Wojciech, Wiszniewski, Monika, Gos, Piotr, Stawiński, Małgorzata, Rydzanicz, Joanna, Kosińska, Paweł, Własienko, Olga, Malinowska Kordowska, Magdalena, Bartnik-Głaska, Joanna, Bernaciak, Krzysztof, Szczałuba, Monika, Bekiesińska-Figatowska, Rafał, Płoski, Jerzy, Bal, Sylwia, Olimpia Rzońca-Niewczas
Publikováno v:
Journal of Mother and Child
The Mediator complex subunit 13-like is a part of the large Mediator complex. Recently, a large number of patients were diagnosed with mutations in this gene, which makes it one of the most frequent causes of syndromic intellectual disability. In thi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9d9f71f4b9ed18d4787c8ce905c625ed
https://pubmed.ncbi.nlm.nih.gov/33930262
https://pubmed.ncbi.nlm.nih.gov/33930262
Autor:
Katarzyna Kowalczyk, Magdalena Bartnik-Głaska, Marta Smyk, Izabela Plaskota, Joanna Bernaciak, Marta Kędzior, Barbara Wiśniowiecka-Kowalnik, Krystyna Jakubów-Durska, Natalia Braun-Walicka, Artur Barczyk, Maciej Geremek, Jennifer Castañeda, Anna Kutkowska-Kaźmierczak, Paweł Własienko, Marzena Dębska, Anna Kucińska-Chahwan, Tomasz Roszkowski, Szymon Kozłowski, Boyana Mikulska, Tadeusz Issat, Ewa Obersztyn, Beata Anna Nowakowska
Publikováno v:
Genes
Genes; Volume 12; Issue 12; Pages: 2021
Genes, Vol 12, Iss 2021, p 2021 (2021)
Genes; Volume 12; Issue 12; Pages: 2021
Genes, Vol 12, Iss 2021, p 2021 (2021)
Congenital heart defects (CHDs) appear in 8–10 out of 1000 live born newborns and are one of the most common causes of deaths. In fetuses, the congenital heart defects are found even 3–5 times more often. Currently, microarray comparative genomic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa2efaf019df04f34e85279e589f1b3a
https://doi.org/10.3390/genes12122021
https://doi.org/10.3390/genes12122021
Autor:
Anna Poluha, Magdalena Bartnik, Marta Smyk, Ilona Jaszczuk, Joanna Bernaciak, Beata Nowakowska
Publikováno v:
American Journal of Medical Genetics Part A. 170:1325-1329
Neurodevelopmental disorders have long been associated with chromosomal abnormalities, including microdeletions and microduplications. Submicroscopic 14q11.2 deletions involving the CHD8 and SUPT16H genes have been reported in patients with developme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ef0c0a19140bb350ad3d004b5bee5cc
https://doi.org/10.1002/ajmg.a.37579
https://doi.org/10.1002/ajmg.a.37579
Publikováno v:
Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-6 (2017)
Molecular Cytogenetics
Molecular Cytogenetics
Background Three distinct contiguous gene deletion syndromes are located at 10p chromosomal region. The deletion, involving 10p15.3 region, has been characterized by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012). However, because of the vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6ab7da2c36a15da35003ae78f2141b7
https://doi.org/10.1186/s13039-017-0336-2
https://doi.org/10.1186/s13039-017-0336-2
Autor:
Joanna, Bernaciak, Barbara, Wiśniowiecka-Kowalnik, Jennifer, Castañeda, Anna, Kutkowska-Kaźmierczak, Beata, Nowakowska
Publikováno v:
Developmental Period Medicine
Copy-number variants (CNVs) are an important cause of human neurodevelopmental disorders. We present the first case of a 424 kb de novo 20q13.11q13.12 microdeletion in a patient with attention deficit disorder, tics and autistic behaviors, such as em
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d87d7c457901b76c88fc8f0e6fc71c68
https://pubmed.ncbi.nlm.nih.gov/28796977
https://pubmed.ncbi.nlm.nih.gov/28796977
Autor:
Pawel Stankiewicz, Anna Kutkowska-Kaźmierczak, Kamila Ziemkiewicz, Marta Kędzior, Maciej Sykulski, Anna Gambin, Magdalena Bartnik, Tadeusz Mazurczak, Tomasz Gambin, Ewa Bocian, Natalia Bezniakow, Ewa Obersztyn, Katarzyna Derwińska, Barbara Wiśniowiecka-Kowalnik, Jakub Klapecki, Beata Nowakowska, Lech Korniszewski, Krzysztof Szczałuba, Chad A. Shaw, Joanna Bernaciak
Publikováno v:
Journal of Applied Genetics
We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) in a cohort of 256 patients with developmental delay (DD)/intellectual disability (ID) with or without dysmorphic features, additional neurodevelop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8b815f15c3aec1ba900af4427497b0b
http://europepmc.org/articles/PMC3909616
http://europepmc.org/articles/PMC3909616
Autor:
Krzysztof, Szczałuba, Anna, Jakubiuk-Tomaszuk, Marta, Kędzior, Joanna, Bernaciak, Jolanta, Zdrodowska, Wiesław, Kurzątkowski, Marek, Radkowski, Urszula, Demkow
Publikováno v:
Advances in experimental medicine and biology. 912
Identification of submicroscopic chromosomal aberrations, as a cause of structural malformations, is currently performed by MLPA (multiplex ligation-dependent probe amplification) or array CGH (array comparative genomic hybridization) techniques. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4041507bf929c62f5aed5264778f4931
https://pubmed.ncbi.nlm.nih.gov/26987321
https://pubmed.ncbi.nlm.nih.gov/26987321
Autor:
Wiesław Kurzątkowski, Jolanta Zdrodowska, Marta Kędzior, Urszula Demkow, Marek Radkowski, Joanna Bernaciak, Anna Jakubiuk-Tomaszuk, Krzysztof Szczałuba
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9783319351032
Identification of submicroscopic chromosomal aberrations, as a cause of structural malformations, is currently performed by MLPA (multiplex ligation-dependent probe amplification) or array CGH (array comparative genomic hybridization) techniques. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6de43553315239c18aa4181abde98a03
https://doi.org/10.1007/5584_2016_234
https://doi.org/10.1007/5584_2016_234
