Autor: Popowska, M. - Katalog OPAC zbiorów

Skocz do pozycji: 1.

Tytuł:: SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome
Autorzy:: Piekutowska-Abramczuk, D
Popowska, E.
Pronicka, E.
Karczmarewicz, E.
Pronicki, M.
Kmiec, T.
Krajewska-Walasek, M.
Powiązania:: https://bibliotekanauki.pl/articles/2041946.pdf
Data publikacji:: 2001
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: Leigh disease
polymorphism
deletion
patient
substitution
Polska
SURF1 gene
gene mutation
Leigh syndrome
cytochrome oxidase
Źródło:: Journal of Applied Genetics; 2001, 42, 1; 103-108
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 2.

Tytuł:: Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes
Autorzy:: Popowska, E
Sulek, A.
Kubalska, J.
Pronicka, E.
Jezewska, M.
Trembacz, H.
Goryluk-Kozakiewicz, B.
Krajewska-Walasek, M.
Powiązania:: https://bibliotekanauki.pl/articles/2044455.pdf
Data publikacji:: 1998
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: deletion
Lesch Nyhan syndrome
Kelley-Seegmiller syndrome
hypoxanthine-guanine phosphoribosyltransferase deficiency
enzyme activity
Polish patient
point mutation
Opis:: 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.
Źródło:: Journal of Applied Genetics; 1998, 39, 1; 103-111
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 3.

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