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Wyświetlanie 1-15 z 28
Tytuł:
A clinical, cytogenetic and molecular study in Prader-Willi patients
Autorzy:
Krajewska-Walasek, M
Popowska, E
Gutkowska, A
Bielinska, B
Chrzanowska, K
Rump, Z
Mospinek-Krasnopolska, M
Rysiewski, H
Powiązania:
https://bibliotekanauki.pl/articles/2046801.pdf
Data publikacji:
1997
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
deletion
patient
cytogenetic deletion
diagnosis
chromosome 15
Prader-Willi syndrome
Opis:
Twenty-three patients with a putative diagnosis of Prader-Willi syndrome (PWS) were reassessed clinically and then examined by cytogenetic and molecular techniques. Nineteen patients fulfilled the diagnostic criteria for PWS and the remaining four were judged to have atypical PWS. Definite molecular defects were detected in all clinically typical PWS patients but one. A deletion of part of chromosome 15q could be identified molecularly in 14 patients (74%) and maternal disomy for chromosome 15 in four (21%). In all, except one, PWS patients with molecularly detected deletions, the deletion was also identified by cytogenetic studies. Cytogenetic deletions were suspected in two of the atypical PWS patients. However, based on the results of scoring the diagnostic criteria for PWS and on the PW71B methylation test, we were able to rule out PWS in all of our atypical patients. Our study confirms observations that both clinical and cytogenetic investigations can provide misdiagnoses of PWS in some patients, and the first, simple and fast investigation, which can confirm the PWS in most, if not all PWS patients, is molecular analysis by the methylation test.
Źródło:
Journal of Applied Genetics; 1997, 38, 2; 205-216
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
I think (that) somethings missing: Complementizer deletion in nonnative e-mails
Autorzy:
Durham, Mercedes
Powiązania:
https://bibliotekanauki.pl/articles/780878.pdf
Data publikacji:
2011-10
Wydawca:
Uniwersytet im. Adama Mickiewicza w Poznaniu
Tematy:
sociolinguistic competence
complementation
complementizer
deletion
zero complementizer
Opis:
Sociolinguistic competence is not often examined in nonnative English acquisition. This is particularly true for features where the variants are neither stylistically nor socially constrained, but rather are acceptable in all circumstances. Learning to use a language fully, however, implies being able to deal with this type of ‘difficulty,’ and understanding what type of variable features nonnative speakers acquire with ease and which ones they do not may help us better understand more general processes of second language acquisition. By comparing the rates of complementizer deletion of nonnative to native speakers and examining their distributions across various internal and external factors, this paper addresses these issues and offers an example of acquisition of what is, in some ways, an invisible variant. Furthermore, by focusing on a Swiss student association, the paper is also able to compare the patterns of French, German and Italian native speakers, to examine to what extent they differ in English.
Źródło:
Studies in Second Language Learning and Teaching; 2011, 1, 3; 421-445
2083-5205
2084-1965
Pojawia się w:
Studies in Second Language Learning and Teaching
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Effect of deletion mutation on the recombination activity of Cre recombinase
Autorzy:
Rongrong, Liu
Lixia, Wang
Zhongping, Lin
Powiązania:
https://bibliotekanauki.pl/articles/1041446.pdf
Data publikacji:
2005
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
Cre recombinase
deletion mutation
in vitro recombination assay
Opis:
Cre recombinase from bacteriophage P1 is widely used in both in vitro and in vivo DNA manipulations. Based on a structural and functional analysis, three deleted cre mutants were constructed and expressed in Escherichia coli. Mutated recombinases were purified and their recombination activities were determined in vitro. Our results revealed that the mutant with amino-terminal deletion retains the recombination activity as high as wild type Cre; however, the carboxy-terminal deletion and the middle region deletion both lead to a complete loss of the recombinase function.
Źródło:
Acta Biochimica Polonica; 2005, 52, 2; 541-544
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Q-Float in West Ulster English and labeling
Autorzy:
Blümel, Andreas
Powiązania:
https://bibliotekanauki.pl/articles/2134802.pdf
Data publikacji:
2018-12-01
Wydawca:
Uniwersytet im. Adama Mickiewicza w Poznaniu
Tematy:
Q-Float
Irish
Successive-cyclic Movement
Distributed Deletion
Opis:
In this paper I contrast a stranding analysis of Q-float in intermediate A′-positions in West Ulster English with the labeling analysis of successive-cyclic A′-movement and show that the former represents a problem for the latter. If we want to retain the labeling analysis, alternatives to stranding must come forward, some of which I discuss here.
Źródło:
Yearbook of the Poznań Linguistic Meeting; 2018, 4, 1; 55-73
2449-7525
Pojawia się w:
Yearbook of the Poznań Linguistic Meeting
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
An improved genetic algorithm for solving the Selective Travelling Salesman Problem on a road network
Ulepszony algorytm genetyczny do rozwiązania selektywnego problemu komiwojażera w sieci drogowej
Autorzy:
Piwońska, A.
Powiązania:
https://bibliotekanauki.pl/articles/341085.pdf
Data publikacji:
2011
Wydawca:
Politechnika Białostocka. Oficyna Wydawnicza Politechniki Białostockiej
Tematy:
algorytm genetyczny
mutacja usuwająca
komiwojażer
genetic algorithm
deletion mutation
Opis:
The Selective Travelling Salesman Problem (STSP) is a modified version of the Travelling Salesman Problem (TSP) where it is not necessary to visit all vertices. Instead of it, with each vertex a number meaning a profit is associated. The problem is to find a cycle which maximizes collected profit but does not exceed a given cost constraint. A direct application of the STSP, e.g. in Intelligent Transportation Systems, is finding an optimal tour in road networks. However, while the classic STSP is defined on a complete graph, a road network is in general not complete and often has a rather sparse edge set. This paper presents the STSP defined on a road network (R-STSP). Since the R-STSP is NP-hard, the improved genetic algorithm (IGA) is proposed which is the enlarged version of our previous GA. The main aim of this paper is to investigate the role of the deletion mutation in the performance of the IGA.
Selektywny problem komiwojażera (STSP) jest zmodyfikowaną wersją problemu komiwojażera (TSP), w której nie jest konieczne odwiedzenie wszystkich wierzchołków. Zamiast tego, z każdym wierzchołkiem związana jest liczba oznaczająca zysk. Problem polega na znalezieniu cyklu w grafie, który maksymalizuje zysk, ale którego koszt nie przekracza zadanego ograniczenia. Bezpośrednim zastosowaniem problemu STSP, np. w Inteligentnych Systemach Transportowych, jest odnajdywanie optymalnej trasy w sieci drogowej. Jednakże, podczas gdy klasyczny problem STSP jest zdefiniowany na grafie zupełnym, sieć drogowa zwykle nie jest grafem pełnym i często ma rzadki zbiór krawędzi. Artykuł przedstawia problem STSP zdefinowany w sieci drogowej (R-STSP). Ponieważ R-STSP jest NP-trudny, zaproponowano ulepszony algorytm genetyczny (IGA), który jest rozszerzoną wersją poprzedniego algorytmu genetycznego. Głównym celem artykułu jest zbadanie roli mutacji usuwającej w w jakości wyników IGA.
Źródło:
Zeszyty Naukowe Politechniki Białostockiej. Informatyka; 2011, 7; 59-70
1644-0331
Pojawia się w:
Zeszyty Naukowe Politechniki Białostockiej. Informatyka
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Modification de la polarité du verbe ou prédicat effacé ?
Autorzy:
Cholewa, Joanna
Powiązania:
https://bibliotekanauki.pl/articles/559820.pdf
Data publikacji:
2018
Wydawca:
Uniwersytet Wrocławski. Oficyna Wydawnicza ATUT – Wrocławskie Wydawnictwo Oświatowe
Tematy:
predicate
deletion
polarity
pluripolar verb
non-congruence
prepositional group
Opis:
Change of the verb polarity or predicate deleted? Some French verbs, such as sortir, s’enfuir, s’éloigner, can be built with a preposition of polarity different from that of the verb: sortir dans, s’enfuir dans, s’éloigner vers. It is possible to consider these structures as the witness of deletion of a second verbal predicate: X sort (de la maison et entre) dans la rue, X s’éloigne (d’un endroit et s’approche) vers Y. We can see the same deletion in case of pluripolar verbs, which can be constructed with two prepositions (eg tomber).
Źródło:
Orbis Linguarum; 2018, 50; 29-36
1426-7241
Pojawia się w:
Orbis Linguarum
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Psycho-social problems in patients with 22q11.2 deletion syndrome – according to subjective evaluation by parents
Autorzy:
Cywińska-Bernas, Agnieszka
Paśnik, Jarosław
Szałowska-Woźniak, Dorota
Pilarz, Eliza
Jarosz, Paweł
Piotrowicz, Małgorzata
Moll-Maryńczak, Agnieszka
Machnia, Marcin
Zeman, Krzysztof
Powiązania:
https://bibliotekanauki.pl/articles/973092.pdf
Data publikacji:
2018
Wydawca:
Stowarzyszenie Przyjaciół Medycyny Rodzinnej i Lekarzy Rodzinnych
Tematy:
22q11 deletion syndrome
behavior
psychology
child
parents.
Opis:
Background. Deletion syndrome 22q11.2 is a frequently occurring genetic disorder effecting not only malfunctions of the structure and function of many organs and systems, but also a number of psycho-social problems in patients of all ages. Objectives. The aim of the study was the evaluation of psycho-social problems experienced by people with confirmed 22q11DS observed by their parents/caregivers. Material and methods. A group of 32 parents’/caregivers’ children with 22q11DS diagnosis (confirmed by FISH or MLPA analysis) were examined. The age of patients at the moment of examination was from 3 months to 23 years. To identify the most frequent problems a questionnaire survey was used with the use of the authors’ questionnaire. Results. On the basis of the acquired data analysis it was stated that the most frequent problems in children reported by the questioned parents/caregivers were problems with speech development, problems with focusing attention, problem in relations with peers, and school difficulties. The questioned parents also emphasized excessive anxiety of the children and frequent behavior disorders. Moreover, many parents are concerned with their children’s adult lives, and emphasize the necessity of professional support (including psychological) in different stages of the sick child’s upbringing. Conclusions. Patients with 22q11DS experience many psychological and social problems and require, with their families, psychological support in different stages of life. The child’s condition, in many parents’ opinion, is a factor significantly influencing functioning in life and determining the occurrence of problems in the future. The task of primary care physicians is not only to identify patients suspected of 22q11DS and to lead them to genetic diagnostics, but also to provide support to the patients and their families in different stages of life in cooperation with many other specialists.
Źródło:
Family Medicine & Primary Care Review; 2018, 2; 117-123
1734-3402
Pojawia się w:
Family Medicine & Primary Care Review
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Molecular genetic diagnosis of the 1.5 Mb deletion causing hereditary neuropathy with liability to pressure palsies [HNPP] in a Polish family
Autorzy:
Kochanski, A M
Lofgren, A.
Timmerman, V.
Jedrzejowska, H.
Fidzianska, A.
Latos-Bielenska, A.
Van Broeckhoven, C.
Hausmanowa-Petrusewicz, I.
Powiązania:
https://bibliotekanauki.pl/articles/2043637.pdf
Data publikacji:
1999
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
deletion
molecular genetic diagnosis
Polska
genetic analysis
family
hereditary nauropathy
Źródło:
Journal of Applied Genetics; 1999, 40, 3; 249-255
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Scale-free graphs with edge deletion
Autorzy:
Choromański, Krzysztof
Miękisz, Jacek
Powiązania:
https://bibliotekanauki.pl/articles/748366.pdf
Data publikacji:
2015
Wydawca:
Polskie Towarzystwo Matematyczne
Tematy:
random graphs, scale-free graphs, power laws, preferential attachment, edge deletion
Opis:
 Praca rozszerza klasyczny model Barabasiego-Alberty o możliwość usuwania krawędzi. Pokazano, że wykładnik w prawie potęgowym rozkładu stopni wierzchołków zależy od liczby krawędzi dodawanych w każdym kroku procesu budowy grafu.
We extend the classical Barabási-Albert preferential attachment procedure by allowing edge deletion. We prove that unlike in the original model, power-law exponents of degree distribution of scale-free graphs with edge deletion depend on the number of attached edges in one step of the growing process.
Źródło:
Mathematica Applicanda; 2015, 43, 2
1730-2668
2299-4009
Pojawia się w:
Mathematica Applicanda
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease
Autorzy:
Jędrzejowska, Maria
Milewski, Michał
Zimowski, Janusz
Borkowska, Janina
Kostera-Pruszczyk, Anna
Sielska, Danuta
Jurek, Marta
Hausmanowa-Petrusewicz, Irena
Powiązania:
https://bibliotekanauki.pl/articles/1040639.pdf
Data publikacji:
2009
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
SMN2 gene copy number
SMA modifiers
NAIP deletion
gender influence
Opis:
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations of the SMN1 gene. It is characterized by significant phenotype variability. In this study, we analyzed possible phenotype modifiers of the disease - the size of the deletion in the SMA region, the number of SMN2 gene copies, as well as the effect of gender. Among the factors analyzed, two seem to influence the SMA phenotype: the number of SMN2 gene copies and a deletion in the NAIP gene. A higher number of SMN2 copies makes the clinical symptoms more benign, and the NAIP gene deletion is associated with a more severe phenotype. The influence of gender remains unclear. In a group of 1039 patients, 55% of whom were male, the greatest disproportion was in the SMA1 (F/M = 0.78) and SMA3b (F/M = 0.45) forms. In SMA1 a deletion in the NAIP gene was seen twice as frequently in girls compared to boys. In three patients, we observed genotypes atypical for the chronic forms of SMA: two patients with SMA3a and 3b had a deletion of the NAIP gene, and a third patient with SMA2 had one copy of the SMN2 gene.
Źródło:
Acta Biochimica Polonica; 2009, 56, 1; 103-108
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Comparing the rate of growth and metabolic efficiency of yeast experiencing environmental stress or genetic damage
Autorzy:
Sendra, Kacper
Jakubowska, Agata
Korona, Ryszard
Powiązania:
https://bibliotekanauki.pl/articles/1039463.pdf
Data publikacji:
2013
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
fitness cost
growth rate
metabolic efficiency
environmental stress
chemical stress
gene deletion
Opis:
Physical stresses, toxic substances, and mutations can cause marked decline in the rate of growth (RG). We report that the efficiency of growth (EG), i.e. converting glucose into biomass, responds less profoundly. It remains nearly unaffected for some physical and chemical stresses, but decreases substantially for others, specifically those affecting membrane integrity or ion homeostasis. Mutations (gene deletions) can heavily reduce RG, but much less EG. Moreover, there is no apparent relation between the function of deleted gene and EG. Generally, assays of EG appear as more laborious, less precise, and less informative than those of RG.
Źródło:
Acta Biochimica Polonica; 2013, 60, 4; 665-669
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Molecular versus classical cytogenetics - evaluation of 20 Prader-Willi syndrome patients
Autorzy:
Stankiewicz, P
Lebiocka, J
Szpecht-Potocka, A
Bocian, E
Stanczak, H
Obersztyn, E
Mazurczak, T
Powiązania:
https://bibliotekanauki.pl/articles/2047150.pdf
Data publikacji:
1997
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
chromosomal deletion
in situ
patient
hybridization
fluorescence
cytogenetics
chromosome region
Prader-Willi syndrome
Opis:
Prader-Willi syndrome (PWS) is a developmental disorder caused by a deficiency of paternal contribution of the chromosome region 15q11.2-q13 arising from differently sized deletions, maternal disomy, or rarely imprinting mutations. We have analyzed 20 PWS patients using combined cytogenetic high resolution technique (HRT), fluorescence in situ hybridization (FISH) and molecular studies to identify parental origin (uniparental disomy) or molecular defect (deletion) of the Prader-Willi region. Lack of a paternal copy of 15q11.2-q13 resulting from its deletion was found in 16 patients. Using high resolution GTG banding on prometaphase chromosomes, deletion in the 15q11.2-q13 region was detected in only 8 patients. Application of FISH with different sets of PWS specific unique sequence probes (D15S11, SNRPN, D15S10, GABRß3) revealed microdeletions in 12 patients. In 12 out of 20 cases FISH confirmed HRT studies, while in 8 cases inconsistent results were obtained. No discrepancies between results of FISH and molecular studies were found, although the latter had a higher sensitivity. We conclude that FISH appears to be a rapid and reliable method of microdeletion identification and should be performed as a method of choice in cytogenetic diagnosis of Prader-Willi syndrome.
Źródło:
Journal of Applied Genetics; 1997, 38, 2; 217-226
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene
Autorzy:
Popowska, E
Pronicka, E.
Sulek., A
Jurkiewicz, D.
Rowe, P.
Rowinska, E.
Krajewska-Walasek, M.
Powiązania:
https://bibliotekanauki.pl/articles/2042182.pdf
Data publikacji:
2000
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
metabolic disease
hypophosphatemia
deletion
PHEX gene
patient
substitution
X-linked hypophosphatemia
Polska
insertion
mutation
Źródło:
Journal of Applied Genetics; 2000, 41, 4; 293-302
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
ON ACCENT IN THE ITALIC LANGUAGES: NATURE, POSITION, AND HISTORY
Autorzy:
Nishimura, Kanehiro
Powiązania:
https://bibliotekanauki.pl/articles/634424.pdf
Data publikacji:
2014
Wydawca:
Uniwersytet Jagielloński. Wydawnictwo Uniwersytetu Jagiellońskiego
Tematy:
vowel reduction (weakening), vowel deletion (syncope), initial-stress theory, accent shift, long-vowel notation
Opis:
The Italic languages show a number of cases of vowel reduction and deletion. When working on the actual data, it is crucial to understand the role that accent played in such phonological changes. As for the qualitative nature of Italic accent, recent typological studies suggest that the Italic accent most likely had a dominant stress nature, rather than pitch nature, in the period when vowel reduction and deletion took place. The fact that these changes occurred primarily in non-initial syllables strongly supports the hypothesis that initial syllables were consistently stressed at some point in the history of Italic. Objections to this theory should thus be rejected as groundless. The systematic difference between the initial-stress rule of Pre-Literary Latin and the Penultimate Law of Literary Latin can also be explained within a metrical framework. On the other hand, although it is not immediately clear whether Sabellic acquired an accentual system like that of Literary Latin, the long-vowel notations in Oscan and Umbrian seem to point to the retention of the older system.
Źródło:
Studia Linguistica Universitatis Iagellonicae Cracoviensis; 2014, 131, 2
2083-4624
Pojawia się w:
Studia Linguistica Universitatis Iagellonicae Cracoviensis
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Modelling DNA and RNA secondary structures using matrix insertion-deletion systems
Autorzy:
Kuppusamy, L.
Mahendran, A.
Powiązania:
https://bibliotekanauki.pl/articles/330807.pdf
Data publikacji:
2016
Wydawca:
Uniwersytet Zielonogórski. Oficyna Wydawnicza
Tematy:
biomolecular structure
insertion deletion system
intermolecular
intramolecular
secondary structure
struktura biomolekularna
struktura międzycząsteczkowa
struktura wtórna
Opis:
Insertion and deletion are operations that occur commonly in DNA processing and RNA editing. Since biological macromolecules can be viewed as symbols, gene sequences can be represented as strings and structures can be interpreted as languages. This suggests that the bio-molecular structures that occur at different levels can be theoretically studied by formal languages. In the literature, there is no unique grammar formalism that captures various bio-molecular structures. To overcome this deficiency, in this paper, we introduce a simple grammar model called the matrix insertion–deletion system, and using it we model several bio-molecular structures that occur at the intramolecular, intermolecular and RNA secondary levels.
Źródło:
International Journal of Applied Mathematics and Computer Science; 2016, 26, 1; 245-258
1641-876X
2083-8492
Pojawia się w:
International Journal of Applied Mathematics and Computer Science
Dostawca treści:
Biblioteka Nauki
Artykuł
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