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Genotype characterisation of Blastocystis isolates from Polish patients - preliminary results

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Salamatin R., Kaczmarek A., Rozej-Bielicka W., Cielecka D., Janczak D., Lewicki A., Wesolowska M., Mlocicki D., Golab E.

Annals of Parasitology

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2016

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tom 62

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nr Suppl.

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The search for a genetic defect in Polish patients with chronic granulomatous disease

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Jurkowska M., Kurenko-Deptuch M., Bal J., Roos D.

Archivum Immunologiae et Therapiae Experimentalis

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2004

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tom 52

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nr 6

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Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes

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Popowska E., Sulek A., Kubalska J., Pronicka E., Jezewska M., Trembacz H., Goryluk-Kozakiewicz B., Krajewska-Walasek M.

Journal of Applied Genetics

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1998

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tom 39

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nr 1

Five families with the Lesch-Nyhan syndrome (LNS) and two families with the Kelley-Seegmiller syndrome (KSS) were studied. Seven different mutations were identified. Two transitions, C526→ T (Prol76Ser) and G481→A (Ala161Thr), in patients with a milder form of hypoxanthine-guanine phosphoribo-syltransferase (HPRT) deficiency were detected. In patients with the Lesch-Nyhan syndrome two transitions, G569→A (Glyl90Glu) and C508→T (Arg170Ter), two transversions, C222→A (Phe74Leu) and C482→A (Ala161Glu), and a deletion of seven nucleotides (from A394 to G400) were observed. All except two of the identified mutations are novel. The C222→A substitution in exon III is located within one of the clusters of hot spots of the HPRT gene and has been previously described in four unrelated patients. The other recurrent mutation C508→T in exon VII has been reported in eight families.

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Prevalence of the intron 22 inversion of the factor VIII gene and inhibitor development in Polish patients with severe hemophilia A

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Sawecka J., Skulimowska J., Windyga J., Lopaciuk S., Koscielak J.

Archivum Immunologiae et Therapiae Experimentalis

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2005

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tom 53

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nr 4

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Dirofilaria repens infection as a cause of intensive peripheral microfilariemia in a Polish patient: process description and cases review

84%

Kludkowska M., Pielok L., Frackowiak K., Masny A., Golab E., Paul M.

Acta Parasitologica

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2018

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tom 63

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nr 3

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Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

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Bogdanowicz J., Pawlowska B., Ilnicka A., Gawlik-Zawislak S., Jozwiak A., Sobiczewska B., Zdzienicka E., Korniszewski L., Zaremba J.

Journal of Applied Genetics

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2010

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tom 51

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nr 2

215-217

Fluorescent in situ hybridization (FISH) was performed in 76 patients referred to our department because of intellectual disability and dysmorphic features that can be related to subtelomeric microaberrations. In all the patients, conventional cytogenetic methods revealed normal karyotype. Four (5.3%) subtelomeric rearrangements were detected by FISH: 2 subtelomeric 1p36 deletions, an unbalanced translocation involving chromosomes 1 and 12 with 1p36 deletion, and a de novo balanced translocation involving chromosomes 19 and 22. Thus, 3 cases of 1p36 subtelomeric deletion were found (3.95%). To confirm subtelomeric rearrangements in 2 patients, comparative genomic hybridization (CGH) was applied. Moreover, 3 cases of polymorphism without phenotypic effects were found: in 2 patients, the polymorphism involved the long arm of chromosome 2 (maternal derivative in both patients), while in the third patient, a polymorphism of the long arm of chromosome 7 was diagnosed. The latter polymorphism was also found in the patient's mother and grandfather.

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IL-17A, IL-17F and IL-23R gene polymorphisms in Polish patients with rheumatoid arthritis

84%

Bogunia-Kubik K., Swierkot J., Malak A., Wysoczanska B., Nowak B., Bialowas K., Gebura K., Korman L., Wiland P.

Archivum Immunologiae et Therapiae Experimentalis

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2015

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tom 63

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nr 3

Ograniczanie wyników

Genotype characterisation of Blastocystis isolates from Polish patients - preliminary results

The search for a genetic defect in Polish patients with chronic granulomatous disease

Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes

Prevalence of the intron 22 inversion of the factor VIII gene and inhibitor development in Polish patients with severe hemophilia A

Dirofilaria repens infection as a cause of intensive peripheral microfilariemia in a Polish patient: process description and cases review

Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

IL-17A, IL-17F and IL-23R gene polymorphisms in Polish patients with rheumatoid arthritis