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Wyświetlanie 1-3 z 3
Tytuł:
Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene
Autorzy:
Milewski, M
Bal, J
Bocian, E
Obersztyn, E
Mazurczak, T
Powiązania:
https://bibliotekanauki.pl/articles/2047284.pdf
Data publikacji:
1996
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
inactivation
human disease
gene
X chromosome
mental retardation
clinical parameter
mental status
full mutation
cytogenetic parameter
molecular parameter
fragile X syndrome
amplification size
Opis:
Relationship between selected molecular, cytogenetic and clinical parameters was analysed in a group of 63 individuals (45 males and 18 females) with full fragile X mutation. Significant correlation between the size and somatic instability of fully mutated alleles in both males and females was found. Possible explanations of this result are discussed. With respect to the mutation size, an apparent difference was observed between males with different degree of mental retardation. No such difference appeared when affected and normal females with full mutation were compared. The proportion of mutated active X chromosome was significantly higher in mentally retarded females than in those without any mental impairment.
Źródło:
Journal of Applied Genetics; 1996, 37, 2; 205-215
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Clinical analysis and evaluation of selected laboratory parameters in patients examined in distant periods after trichinellosis
Autorzy:
Pielok, L
Powiązania:
https://bibliotekanauki.pl/articles/839580.pdf
Data publikacji:
2001
Wydawca:
Polskie Towarzystwo Parazytologiczne
Tematy:
parasitic disease
patient
Trichinella
clinical symptom
trichinellosis
invasion
muscle enzyme
distant period
laboratory parameter
larva
tissue pathology
muscle tissue
Opis:
Since early times, opinions of clinicians in distant sequele of the experienced once trichinellosis remain controversial. A set of studies was performed in 75 patients who had experienced trichinellosis 1, 3, 4, 6, or 7 years earlier. Persistence of the general clinical symptoms and of the motor system symptoms as well as persistence of IgG class antibodies against the E/S antigen of Trichinella sp. it was found in 77.3% examined patients. In 84.0% patients bioelectric disturbances (EMG, ENG) were detected. Parasitological studies and pathomorphological examination of muscle biopsies performed in 24 patients pointed to degradation of Trichinella larvae and to the incompletely extinguished pathological process.
Źródło:
Annals of Parasitology; 2001, 47, 2
0043-5163
Pojawia się w:
Annals of Parasitology
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Clinical analysis and evaluation of selected laboratory parameters in patients examined in distant periods after trichinellosis
Autorzy:
Pielok, Ł.
Powiązania:
https://bibliotekanauki.pl/articles/2147893.pdf
Data publikacji:
2001
Wydawca:
Polskie Towarzystwo Parazytologiczne
Tematy:
parasitic disease
patient
Trichinella
clinical symptom
trichinellosis
invasion
muscle enzyme
distant period
laboratory parameter
larva
tissue pathology
muscle tissue
Opis:
Since early times, opinions of clinicians in distant sequele of the experienced once trichinellosis remain controversial. A set of studies was performed in 75 patients who had experienced trichinellosis 1, 3, 4, 6, or 7 years earlier. Persistence of the general clinical symptoms and of the motor system symptoms as well as persistence of IgG class antibodies against the E/S antigen of Trichinella sp. it was found in 77.3% examined patients. In 84.0% patients bioelectric disturbances (EMG, ENG) were detected. Parasitological studies and pathomorphological examination of muscle biopsies performed in 24 patients pointed to degradation of Trichinella larvae and to the incompletely extinguished pathological process.
Źródło:
Wiadomości Parazytologiczne; 2001, 47, 2; 185-209
0043-5163
Pojawia się w:
Wiadomości Parazytologiczne
Dostawca treści:
Biblioteka Nauki
Artykuł
    Wyświetlanie 1-3 z 3

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