Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Anna, Kruczek"'
Autor:
Rafał Wiench, Joanna Nowicka, Kinga Grzech-Leśniak, Piotr Kuropka, Magdalena Pajączkowska, Dariusz Skaba, Anna Kuśka-Kiełbratowska, Anna Kruczek-Kazibudzka
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 10971, p 10971 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 20
International Journal of Molecular Sciences
Volume 22
Issue 20
(1) Background and the aim: The appropriate incubation time in the antimicrobial photodynamic therapy protocol seems to have a huge impact on the efficacy of this process. This is particularly important in relation to Candida strains, due to the size
Autor:
Ewa Hordyjewska-Kowalczyk, Aleksander Jamsheer, Przemko Tylzanowski, Anna Sowińska-Seidler, Renata Glazar, Magdalena Socha, Anna Kruczek, Ewelina M. Olech, Anna Latos-Bielenska
Publikováno v:
Clinical Genetics. 96:429-438
RUNX2 (Runt-related transcription factor 2) is a master regulator of osteoblast differentiation, cartilage and bone development. Pathogenic variants in RUNX2 have been linked to the Cleidocranial dysplasia (CCD), which is characterized by hypoplasia
Autor:
Anna Kruczek, Elżbieta Cipora, Barbara Brodziak-Dopierała, Magdalena Babuśka-Roczniak, Wojciech Roczniak, Joanna Bem
Publikováno v:
Polish Annals of Medicine.
Introduction: Mercury is one of the elements that are commonly found in nature. This element is highly toxic, mainly affecting the nervous system, kidneys and lungs. Mercury ions can accumulate in bone and cartilage and build up behind calcium ions i
Autor:
Ewa Hordyjewska-Kowalczyk, Ewelina M. Olech, Aleksander Jamsheer, Anna Latos-Bieleńska, Anna SowiŃska‐Seidler, Anna Kruczek, Renata Glazar, Magdalena Socha, Przemko Tylzanowski
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8697808f351df2d483fec2dcbb9dd3b4
https://doi.org/10.1111/cge.13610/v3/response1
https://doi.org/10.1111/cge.13610/v3/response1
Autor:
Anna Szydło, Aleksandra Auguściak-Duma, Joanna Witecka, Jacek J Pietrzyk, Minna Männikkö, Marta Lesiak, Aleksander Sieroń, Maria Krzak, Anna Kruczek
Publikováno v:
Journal of applied genetics. 49(3)
Osteogenesis imperfecta (OI) is a bone dysplasia caused by mutations in the COL1A1 and COL1A2 genes. Although the condition has been intensely studied for over 25 years and recently over 800 novel mutations have been published, the relation between t
Autor:
Katarzyna, Borg, Ewa, Bocian, Pawel, Stankiewicz, Ewa, Obersztyn, Anna, Kruczek, Beata, Nowakowska, Alicja, Ilnicka, Tadeusz, Mazurczak
Publikováno v:
Medycyna wieku rozwojowego. 10(1 Pt 2)
In about 6% of individuals with intellectual disability, dysmorphic features and congenital anomalies, an abnormal, apparently balanced karyotype is found. These abnormalities may result from abnormal expression of genes at the breakpoints, presence
Autor:
Ewa, Bocian, Beata, Nowakowska, Ewa, Obersztyn, Katarzyna, Borg, Ilse, Chudoba, Ewa, Kostyk, Anna, Kruczek, Jacek, Pietrzyk, Tadeusz, Mazurczak
Publikováno v:
Medycyna wieku rozwojowego. 10(1 Pt 2)
Until recently, great variety of marker chromosomes and difficulties with their identification have presented a problem for cytogenetic and clinical interpretation of the karyotype. At present, molecular cytogenetic methods of chromosome analysis ena
Publikováno v:
Przeglad lekarski. 62(11)
Wolf-Hirschhorn syndrome (4p detetion) belongs to the group of disorders caused by chromosomal aberrations, associated with frequent occurrence of epilepsy. To illustrate phenotype - genotype association, the study presents 3 children with this syndr
Autor:
Ewa Obersztyn, Ewa Bocian, Katarzyna Borg, Tadeusz Mazurczak, Pawel Stankiewicz, James R. Lupski, Anna Kruczek
Publikováno v:
Human genetics. 118(2)
Complex chromosome rearrangements (CCRs) are extremely rare but often associated with mental retardation, congenital anomalies, or recurrent spontaneous abortions. We report a de novo apparently balanced CCR involving chromosomes 3 and 12 and a two-w
Publikováno v:
Przeglad lekarski. 59
Thanatophoric dwarfism is a lethal bone dysplasia causing severe disturbance in body proportions, shortening and deformation of the long bones and maldevelopment of the chest leading to severe respiratory failure and early death. The disease is cause