Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Barbara Wiśniowiecka-Kowalnik"'
Autor:
Marta Smyk, Maciej Geremek, Kamila Ziemkiewicz, Tomasz Gambin, Anna Kutkowska-Kaźmierczak, Katarzyna Kowalczyk, Izabela Plaskota, Barbara Wiśniowiecka-Kowalnik, Magdalena Bartnik-Głaska, Magdalena Niemiec, Dominika Grad, Małgorzata Piotrowicz, Dorota Gieruszczak-Białek, Aleksandra Pietrzyk, T. Blaine Crowley, Victoria Giunta, Daniel E. McGinn, Elaine H. Zackai, Oanh Tran, Beverly S. Emanuel, Donna M. McDonald-McGinn, Beata A. Nowakowska
Publikováno v:
Genes; Volume 14; Issue 3; Pages: 680
22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder with an extremely broad phenotypic spectrum. The aim of our study was to investigate how often the additional variants in the genome can affect clinical variation among patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b575ffeee0fdefc1ded58b857c397cdc
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:
Anna Kutkowska-Kaźmierczak, Maria Boczar, Ewa Kalka, Jennifer Castañeda, Jakub Klapecki, Aleksandra Pietrzyk, Artur Barczyk, Olga Malinowska, Aleksandra Landowska, Tomasz Gambin, Katarzyna Kowalczyk, Barbara Wiśniowiecka-Kowalnik, Marta Smyk, Mateusz Dawidziuk, Katarzyna Niepokój, Magdalena Paczkowska, Paweł Szyld, Beata Lipska-Ziętkiewicz, Krzysztof Szczałuba, Ewa Kostyk, Agata Runge, Karolina Rutkowska, Rafał Płoski, Beata Nowakowska, Jerzy Bal, Ewa Obersztyn, Monika Gos
Publikováno v:
Genes, Vol 12, Iss 1257, p 1257 (2021)
KBG syndrome is a neurodevelopmental autosomal dominant disorder characterized by short stature, macrodontia, developmental delay, behavioral problems, speech delay and delayed closing of fontanels. Most patients with KBG syndrome are found to have a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::b1614593f5219aa4700ebe069032ed0f
https://www.mdpi.com/2073-4425/12/8/1257
https://www.mdpi.com/2073-4425/12/8/1257
Autor:
Barbara Wiśniowiecka-Kowalnik, Anna Kutkowska-Kaźmierczak, Slavica Josifovska, Nouha Bouayed Abdelmoula, Ewa Obersztyn
Publikováno v:
Eur J Hum Genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd3ef1cba277d0098a972864add4a6a7
https://doi.org/10.1038/s41431-018-0248-6
https://doi.org/10.1038/s41431-018-0248-6
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:
Jerzy Bal, Olga Malinowska, Jennifer Castaneda, Mateusz Dawidziuk, Maria Boczar, Aleksandra Landowska, Ewa Obersztyn, Agata Runge, Marta Smyk, Beata Nowakowska, Katarzyna Niepokój, Karolina Rutkowska, Magdalena Paczkowska, Anna Kutkowska-Kaźmierczak, Katarzyna Kowalczyk, Ewa Kostyk, Barbara Wiśniowiecka-Kowalnik, Aleksandra Pietrzyk, Jakub Klapecki, Ewa Kalka, Artur Barczyk, Krzysztof Szczałuba, Monika Gos, Tomasz Gambin, Beata S. Lipska-Ziętkiewicz, Pawel Szyld, Rafał Płoski
Publikováno v:
Genes
Volume 12
Issue 8
Volume 12
Issue 8
KBG syndrome is a neurodevelopmental autosomal dominant disorder characterized by short stature, macrodontia, developmental delay, behavioral problems, speech delay and delayed closing of fontanels. Most patients with KBG syndrome are found to have a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4a352b3600445c44096fe65361d5f84
https://doi.org/10.3390/genes12081257
https://doi.org/10.3390/genes12081257
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:
Ewa Ziemka, Dorota Szumbarska, Ewa Bocian, Chad A. Shaw, Magdalena Bartnik, Barbara Wiśniowiecka-Kowalnik, Monika Kastory-Bronowska, Ewa Obersztyn, Maciej Sykulski, Tadeusz Mazurczak, Krzysztof Szczałuba, Pawel Stankiewicz, Katarzyna Derwińska, Tomasz Gambin, Wanda Dymczak-Domini, Anna Gambin
Publikováno v:
European Journal of Human Genetics. 21:620-625
Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, including childhood autism, atypical autism, and Asperger syndrome, with an estimated prevalence of 1.0-2.5% in the general population. ASDs have a complex mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff805c5f995e433584a775debf7b7426
https://doi.org/10.1038/ejhg.2012.219
https://doi.org/10.1038/ejhg.2012.219
Autor:
Anetta Jeziorek, Mariola Rudzka-Dybała, Iwona Terczyńska, Marta Kędzior, Małgorzata Sobierajewicz, Elżbieta Szczepanik, Zofia Zalewska-Miszkurka, Kamila Ziemkiewicz, Tomasz Mazurczak, Alicja Goszczańska-Ciuchta, Dorota Antczak-Marach, Magdalena Bartnik, Maciej Sykulski, Anna Gambin, Katarzyna Derwińska, Hanna Mazurkiewicz, Tomasz Gambin, Tadeusz Mazurczak, Chad A. Shaw, Barbara Wiśniowiecka-Kowalnik, Hanna Mierzewska, Dorota Hoffman-Zacharska, Monika Gos, Ewa Bocian, Ewa Obersztyn, Pawel Stankiewicz
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. :760-771
Copy-number variants (CNVs) collectively represent an important cause of neurodevelopmental disorders such as developmental delay (DD)/intellectual disability (ID), autism, and epilepsy. In contrast to DD/ID, for which the application of microarray t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cdfb0d16343a4efed61bfe9cb3082a0
https://doi.org/10.1002/ajmg.b.32081
https://doi.org/10.1002/ajmg.b.32081