Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Paweł Własienko"'
Autor:
Katarzyna Wertheim-Tysarowska, Katarzyna Osipowicz, Katarzyna Woźniak, Justyna Sawicka, Adrianna Mika, Anna Kutkowska-Kaźmierczak, Katarzyna Niepokój, Agnieszka Sobczyńska-Tomaszewska, Bartłomiej Wawrzycki, Aldona Pietrzak, Robert Śmigiel, Bartosz Wojtaś, Bartłomiej Gielniewski, Alicja Szabelska-Beresewicz, Joanna Zyprych-Walczak, Agnieszka Magdalena Rygiel, Alicja Domaszewicz, Natalia Braun-Walicka, Alicja Grabarczyk, Sylwia Rzońca-Niewczas, Ruszkowska Lidia, Mateusz Dawidziuk, Dominik Domański, Tomasz Gambin, Monika Jackiewicz, Katarzyna Duk, Barbara Dorożko, Orest Szczygielski, Natalia Krześniak, Bartłomiej H Noszczyk, Ewa Obersztyn, Jolanta Wierzba, Artur Barczyk, Jennifer Castaneda, Anna Eckersdorf-Mastalerz, Anna Jakubiuk-Tomaszuk, Paweł Własienko, Ilona Jaszczuk, Aleksandra Jezela-Stanek, Jakub Klapecki, Michel van Geel, Cezary Kowalewski, Jerzy Bal, Antoni Gostyński
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that present with either localised (palmoplantar keratoderma, PPK) or generalised (ichthyoses) signs. The MeDOC are highly heterogenic in terms
Externí odkaz:
https://doaj.org/article/fa4b27d36ae94c2aad70ecdc21678bb1
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:
Joanna Szymkiewicz-Dangel, Paweł Własienko, Maria Katarzyna Borszewska-Kornacka, Renata Bokiniec
Publikováno v:
Kardiologia Polska. 77:445-450
BACKGROUND Both gestational and chronological age of the neonate may influence and impair the function of the delicate and immature myocardium. However, the transition from fetal to neonatal circulation in preterm neonates is poorly understood. AIMS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79c29fef03bfe4c93e842ecf235810e9
https://doi.org/10.5603/kp.a2019.0040
https://doi.org/10.5603/kp.a2019.0040
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:
Paweł Własienko, Maria Katarzyna Borszewska-Kornacka, Joanna Szymkiewicz-Dangel, Renata Bokiniec
Publikováno v:
Echocardiography. 34:567-576
Aim Echocardiographic evaluation of left ventricular function in preterm infants with and without bronchopulmonary dysplasia. Methods In 82 preterm infants (32 in no-bronchopulmonary-dysplasia group, 35 in mild-bronchopulmonary-dysplasia group, and 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95f8c22ca07f9c304ce118d66dbd4e8a
https://doi.org/10.1111/echo.13488
https://doi.org/10.1111/echo.13488
Autor:
Maria Katarzyna Borszewska-Kornacka, Renata Bokiniec, Paweł Własienko, Joanna Szymkiewicz-Dangel
Publikováno v:
Echocardiography (Mount Kisco, N.Y.). 34(4)
Aim To evaluate right ventricular function in preterm infants with and without bronchopulmonary dysplasia. Methods Eighty-nine preterm infants (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a570b99e33d084fb482d2af970f50644
https://pubmed.ncbi.nlm.nih.gov/28229480
https://pubmed.ncbi.nlm.nih.gov/28229480
Autor:
Maria Katarzyna Borszewska-Kornacka, Paweł Własienko, Joanna Szymkiewicz-Dangel, Renata Bokiniec, Dariusz Madajczak
Publikováno v:
Kardiologia polska. 74(9)
Background: The myocardial performance index (MPI) is a noninvasive method to measure global systolic and diastolic myocardial function. In both term and premature neonates, changes in the systolic and diastolic function of the left ventricle (LV) an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4813521daa636744836d534b726ea6ed
https://pubmed.ncbi.nlm.nih.gov/27112943
https://pubmed.ncbi.nlm.nih.gov/27112943
Publikováno v:
Ginekologia polska. 86(2)
Congenital Diaphragmatic Hernia (CDH) occurs with an estimated incidence of 1 to 2500 live births. Even though the exact etiology is still unknown, more and more often current research points out genetic factors as the possible cause of the defect. A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5386c064602e75137d5803647dfbe6e1
https://pubmed.ncbi.nlm.nih.gov/25807842
https://pubmed.ncbi.nlm.nih.gov/25807842
Autor:
Magdalena, Bartnik, Barbara, Wiśniowiecka-Kowalnik, Beata, Nowakowska, Marta, Smyk, Marta, Kędzior, Katarzyna, Sobecka, Anna, Kutkowska-Kaźmierczak, Jakub, Klapecki, Krzysztof, Szczałuba, Jennifer, Castañeda, Paweł, Własienko, Natalia, Bezniakow, Ewa, Obersztyn, Ewa, Bocian
Publikováno v:
Developmental period medicine. 18(3)
Intellectual disability (ID)/Developmental delay (DD), which occurs in 1-3% of the population, accounts for a large number of cases regularly seen in genetics clinics. Currently, Array Comparative Genomic Hybridization (array CGH) is recommended by t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::85009eb9c4fcbaeea7e252bdcada0071
https://pubmed.ncbi.nlm.nih.gov/25182394
https://pubmed.ncbi.nlm.nih.gov/25182394