Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Magdalena Pawelec"'
Publikováno v:
Journal of Education, Health and Sport, Vol 12, Iss 6 (2022)
The study conducted research aimed at assessing the influence of physical activity on peak expiratory flow (PEF) and the 6-minute walk test (6MTW). The research was carried out at the Department of Systemic Rehabilitation - Post Covid at the Pj-Med R
Externí odkaz:
https://doaj.org/article/0449284aaa924f6f8289e5b7bc07287d
Publikováno v:
Journal of applied genetics. 62(2)
In the 164 patients with Duchenne/Becker muscular dystrophy, we found 142 different small mutations including 51 novel mutations not listed in the LOVD, the UMD-DMD, the ClinVar, and the HGMD databases. Among all mutations, nonsense mutations occurre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f840242b472aeb2eb1f96fb22120f729
https://pubmed.ncbi.nlm.nih.gov/33420945
https://pubmed.ncbi.nlm.nih.gov/33420945
Autor:
Tomasz Roszkowski, Magdalena Pawelec, Julia Bijok, Diana Massalska, Janusz Zimowski, Małgorzata Bednarska-Makaruk
Publikováno v:
Journal of Obstetrics and Gynaecology Research. 43:1111-1121
Aim The aim of this study was to analyze the influence of effective preconceptional testing for carrier status in women at risk for Duchenne and Becker muscular dystrophies (D/BMD) on the prenatal diagnosis. Methods A retrospective analysis of 201 pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7a6544b235c1688438d021ad4f2cd03
https://doi.org/10.1111/jog.13344
https://doi.org/10.1111/jog.13344
Autor:
Karolina Ziora-Jakutowicz, Jolanta Kubalska, Jacek Zaremba, Jacek Pilch, Janusz Zimowski, Magdalena Dudzińska, Magdalena Pawelec, Joanna K. Purzycka
Publikováno v:
Journal of Applied Genetics
In the material of 227 families with Becker muscular dystrophy (BMD), we found nine non-consanguineous families with 17 male individuals carrying a rare mutation—a single exon 48 deletion of the dystrophin gene—who were affected with a very mild
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcbff76c040dc3f1ab988fbb1d690aca
https://doi.org/10.1007/s13353-017-0391-8
https://doi.org/10.1007/s13353-017-0391-8
Autor:
Magdalena Pawelec, Tomasz Roszkowski, Diana Massalska, Grzegorz Jakiel, Julia Bijok, Janusz Zimowski, Małgorzata Czubak-Barlik
Publikováno v:
Journal of Obstetrics and Gynaecology Research. 43:23-29
Around 10-15% of pregnancies result in a spontaneous first trimester miscarriage, which is most frequently caused by chromosomal abnormalities, mainly aneuploidies. Genetic analysis of pregnancy loss includes conventional G-banding karyotyping and va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0482b0328f7910c9587a6192bd6b697f
https://doi.org/10.1111/jog.13179
https://doi.org/10.1111/jog.13179
Autor:
A. Michałowska, Magdalena Pawelec, Tomasz Roszkowski, Julia Bijok, Diana Massalska, Janusz Zimowski
Publikováno v:
Clinical Genetics. 89:620-624
Spontaneous miscarriages are the most frequent complications of pregnancy and, in at least half of cases, are caused by chromosomal abnormalities, mainly aneuploidies. We present the preliminary results of the implementation of multiplex ligation-dep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8bf5ef526f6381194856014ab68d54e0
https://doi.org/10.1111/cge.12727
https://doi.org/10.1111/cge.12727
Publikováno v:
Wroclaw Medical University
Introduction: With the increasing problem of obesity in the world, high prevalence of asthma in obese persons and high prevalence of sleep breathing disorders related to obesity, the number of patients with coexisting asthma and obesity hypoventilati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d55ef15f4d01ef0bf8277ac3f8553396
https://pubmed.ncbi.nlm.nih.gov/30176621
https://pubmed.ncbi.nlm.nih.gov/30176621
Publikováno v:
Wiadomosci lekarskie (Warsaw, Poland : 1960). 71(2 pt 2)
Both asthma and obstructive sleep apnea (OSA) syndrome are frequent diseases and their coexistence may implicate important consequences. The incidence of OSA syndrome among the patients with asthma is higher than in the general population, especially
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9b6c97a785eea80006cdd7d818db16a0
https://pubmed.ncbi.nlm.nih.gov/29786596
https://pubmed.ncbi.nlm.nih.gov/29786596
Autor:
Diana, Massalska, Janusz Grzegorz, Zimowski, Tomasz, Roszkowski, Julia, Bijok, Magdalena, Pawelec, Małgorzata, Bednarska-Makaruk
Publikováno v:
The journal of obstetrics and gynaecology research. 43(7)
The aim of this study was to analyze the influence of effective preconceptional testing for carrier status in women at risk for Duchenne and Becker muscular dystrophies (D/BMD) on the prenatal diagnosis.A retrospective analysis of 201 prenatal tests
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0d898f0696335d80460e7fc87f6decef
https://pubmed.ncbi.nlm.nih.gov/28561990
https://pubmed.ncbi.nlm.nih.gov/28561990
Publikováno v:
Journal of human genetics. 62(10)
Examination of the carrier state was performed in 744 unrelated mothers of the Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) probands with identified mutations in the dystrophin gene. Owing to that it was possible to assess frequenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5481d5edd43418d93054913531e73db
https://pubmed.ncbi.nlm.nih.gov/28680110
https://pubmed.ncbi.nlm.nih.gov/28680110