Search Results - "Skiba, Pawel"

Application of Artificial Neural Networks to Numerical Homogenization of the Precast Hollow-Core Concrete Slabs by Gajewski, Tomasz, Skiba, Paweł

“…The main goal of this work is to combine the usage of the numerical homogenization technique for determining the effective properties of representative volume…”
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Spindle Error Movements and Their Measurement by Chrzanowski, Jarosław, Sałaciński, Tadeusz, Skiba, Paweł

“…The spindle of a machine tool is an important component of the machine. Its condition affects not only operation of the machine tool but also, above all, the…”
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Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation by Pilch, Jacek, Koppolu, Agnieszka A., Walczak, Anna, Murcia Pienkowski, Victor A., Biernacka, Anna, Skiba, Paweł, Machnik‐Broncel, Joanna, Gasperowicz, Piotr, Kosińska, Joanna, Rydzanicz, Małgorzata, Emich‐Widera, Ewa, Płoski, Rafał

“…The HNRNPH2‐associated disease (mental retardation, X‐linked, syndromic, Bain type [MRXSB, MIM #300986]) is caused by de novo mutations in the X‐linked HNRNPH2…”
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Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit by Śmigiel, Robert, Biela, Mateusz, Szmyd, Krzysztof, Błoch, Michal, Szmida, Elżbieta, Skiba, Paweł, Walczak, Anna, Gasperowicz, Piotr, Kosińska, Joanna, Rydzanicz, Małgorzata, Stawiński, Piotr, Biernacka, Anna, Zielińska, Marzena, Gołębiowski, Waldemar, Jalowska, Agnieszka, Ohia, Grażyna, Głowska, Bożena, Walas, Wojciech, Królak-Olejnik, Barbara, Krajewski, Paweł, Sykut-Cegielska, Jolanta, Sąsiadek, Maria M., Płoski, Rafał

“…Genetic disorders are the leading cause of infant morbidity and mortality. Due to the large number of genetic diseases, molecular and phenotype heterogeneity…”
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Polymorphisms in immune-inflammatory response genes and the risk of deficit schizophrenia by Mak, Monika, Misiak, Błażej, Frydecka, Dorota, Pełka-Wysiecka, Justyna, Kucharska-Mazur, Jolanta, Samochowiec, Agnieszka, Bieńkowski, Przemysław, Pawlak-Adamska, Edyta, Karabon, Lidia, Szmida, Elżbieta, Skiba, Paweł, Kotowicz, Kamila, Piotrowski, Patryk, Beszłej, Jan Aleksander, Samochowiec, Jerzy

“…Polymorphisms in immune-inflammatory response genes are believed to impact schizophrenia susceptibility. However, it remains unknown whether immunogenetic…”
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The Impact of the FKBP5 Gene Polymorphisms on the Relationship between Traumatic Life Events and Psychotic-Like Experiences in Non-Clinical Adults by Stramecki, Filip, Frydecka, Dorota, Gawęda, Łukasz, Prochwicz, Katarzyna, Kłosowska, Joanna, Samochowiec, Jerzy, Szczygieł, Krzysztof, Pawlak, Edyta, Szmida, Elżbieta, Skiba, Paweł, Cechnicki, Andrzej, Misiak, Błażej

“…Common variations of the gene are implicated in psychotic disorders, by modulating the hypothalamic-pituitary-adrenal axis reactivity to stress. It has been…”
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The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes by Wolańska, Ewelina, Pollak, Agnieszka, Rydzanicz, Małgorzata, Pesz, Karolina, Kłaniewska, Magdalena, Rozensztrauch, Anna, Skiba, Paweł, Stawiński, Piotr, Płoski, Rafał, Śmigiel, Robert

“…Psychomotor delay, hypotonia, and intellectual disability, as well as heart defects, urogenital malformations, and characteristic cranio-facial dysmorphism are…”
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The Moderating Role of the FKBP5 Gene Polymorphisms in the Relationship between Attachment Style, Perceived Stress and Psychotic-like Experiences in Non-Clinical Young Adults by Stramecki, Filip, Misiak, Błażej, Gawęda, Łukasz, Prochwicz, Katarzyna, Kłosowska, Joanna, Samochowiec, Jerzy, Samochowiec, Agnieszka, Pawlak, Edyta, Szmida, Elżbieta, Skiba, Paweł, Cechnicki, Andrzej, Frydecka, Dorota

“…Numerous studies have reported that stressful life experiences increase the risk of psychosis and psychotic-like experiences (PLEs). Common variations of the…”
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Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders by Łaczmańska, Izabela, Stembalska, Agnieszka, Złocińska, Magdalena, Kozłowska, Joanna, Skiba, Paweł, Pesz, Karolina, Ślęzak, Ryszard, Śmigiel, Robert, Jakubiak, Aleksandra, Misiak, Błażej, Sąsiadek, Maria M

“…Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, characterized by the presence of various symptoms related to…”
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OTC gene duplication as the possible cause of massive hyperammonaemia with a fatal prognosis by Natalia, Borkowska, Lukasz, Kaluzny, Dariusz, Rokicki, Elzbieta, Szmida, Pawel, Kowalski, Monika, Dus-Zuchowska, Pawel, Skiba, Elzbieta, Ciara, Mateusz, Biela, Malgorzata, Rydzanicz, Rafal, Ploski, Robert, Smigiel

“…Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder. It may occur due to various changes to the OTC gene located on the X…”
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Epigenetic Findings in Twins with Esophageal Atresia by Błoch, Michal, Gasperowicz, Piotr, Gerus, Sylwester, Rasiewicz, Katarzyna, Lebioda, Arleta, Skiba, Pawel, Płoski, Rafal, Patkowski, Dariusz, Karpiński, Pawel, Śmigiel, Robert

“…Esophageal atresia (EA) is the most common malformation of the upper gastrointestinal tract. The estimated incidence of EA is 1 in 3500 births. EA is more…”
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Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia by Pastorczak, Agata, Hogendorf, Anna, Urbanska, Zuzanna, Budzynska, Edyta, Jesionek‐Kupnicka, Dorota, Gach, Agnieszka, Hawula, Wanda, Smigiel, Robert, Skiba, Pawel, Sasiadek, Maria, Lejman, Monika, Constatinou, Maria, Lipska‐Ziętkiewicz, Beata S., Mlynarski, Wojciech

“…Microdeletions of 7p12.1 encompassing the IKZF1 gene locus are rare, with few cases reported. The common phenotype includes intellectual disability,…”
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Genome-wide analysis of gene expression after one year of venom immunotherapy by Karpinski, Pawel, Skiba, Pawel, Kosinska, Magdalena, Rosiek-Biegus, Marta, Królewicz, Emilia, Blin, Nikolaus, Meese, Eckart, Panaszek, Bernard, Nittner-Marszalska, Marita, Sasiadek, Maria Malgorzata

“…•Gene expression changes during VIT measured in the whole blood are undetectable.•Application of deconvolution algorithm allowed to define significant…”
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Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases by Łaczmańska, Izabela, Gil, Justyna, Stembalska, Agnieszka, Makowska, Izabela, Kozłowska, Joanna, Skiba, Paweł, Czemarmazowicz, Halina, Pesz, Karolina, Slęzak, Ryszard, Smigiel, Robert, Jakubiak, Aleksandra, Doraczyńska-Kowalik, Anna, Sąsiadek, Maria M

“…The aim of the study was to assess whether commercial kit QF-PCR can be used as the only method for rapic prenatal dia gnosis of chromosomes 13, 18, 21, X and…”
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Customized Array Comparative Genomic Hybridization Analysis of 25 Phosphatase-encoding Genes in Colorectal Cancer Tissues by Laczmanska, Izabela, Skiba, Pawel, Karpinski, Pawel, Bebenek, Marek, Sasiadek, Maria M

“…Molecular mechanisms of alterations in protein tyrosine phosphatases (PTPs) genes in cancer have been previously described and include chromosomal aberrations,…”
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Discovering Rules with Convolutional Neural Networks by Stankiewicz, Katarzyna, Skiba, Pawel, Chaber, Bartosz

“…This paper uses convolutional neural networks to try to discover the rules of a few exemplary processes. As the test cases, we consider John Conway's Game of…”
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Automated modeling of RNA 3D structure by Rother, Kristian, Rother, Magdalena, Skiba, Pawel, Bujnicki, Janusz M

“…This chapter gives an overview over the current methods for automated modeling of RNA structures, with emphasis on template-based methods. The currently used…”
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Large patent ductus arteriosus and left ventricular non-compaction as cardiac manifestations of 1p36 monosomy by Mazurak, Magdalena, Kusa, Jacek, Skiba, Paweł, Śmigiel, Robert

“…1p36 monosomy is one of the most common deletion syndromes. Cardiac diseases occurred in about 45–75% of affected individuals. However, there is only a few…”
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Rapid diagnostics of the most frequent fetal aneuploidies with QF-PCR method – study of 100 cases by Łaczmańska, Izabela, Gil, Justyna, Stembalska, Agnieszka, Makowska, Izabela, Kozłowska, Joanna, Skiba, Paweł, Czemarmazowicz, Halina, Pesz, Karolina, Ślęzak, Ryszard, Śmigiel, Robert, Jakubiak, Aleksandra, Doraczyńska-Kowalik, Anna, Sąsiadek, Maria

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The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes by Wolańska, Ewelina, Pollak, Agnieszka, Rydzanicz, Małgorzata, Pesz, Karolina, Kłaniewska, Magdalena, Rozensztrauch, Anna, Skiba, Paweł, Stawiński, Piotr, Płoski, Rafał, Śmigiel, Robert

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