. "Ro\u017Emanov\u00E1, \u0160\u00E1rka" . "7/8" . "Kosteleck\u00E1, Iva" . . "0042-773X" . "Vnit\u0159n\u00ED l\u00E9ka\u0159stv\u00ED" . "[D0A65F8CD0C4]" . "N\u011Bkter\u00E9 vz\u00E1cn\u011Bj\u0161\u00ED formy heredit\u00E1rn\u00EDch an\u00E9mi\u00ED vyskytuj\u00EDc\u00ED se v dosp\u011Bl\u00E9 populaci v \u010CR a SR - β-talasemie a nestabiln\u00ED hemoglobinov\u00E9 varianty"@cs . "15110" . "Jaro\u0161ov\u00E1, Marie" . . "Rare forms of hereditary anaemia in the Czech and Slovak populations - β- and δβ-thalassaemia and unstable haemoglobin variants"@en . "Posp\u00ED\u0161ilov\u00E1, Dagmar" . . "8"^^ . "N\u011Bkter\u00E9 vz\u00E1cn\u011Bj\u0161\u00ED formy heredit\u00E1rn\u00EDch an\u00E9mi\u00ED vyskytuj\u00EDc\u00ED se v dosp\u011Bl\u00E9 populaci v \u010CR a SR - β-talasemie a nestabiln\u00ED hemoglobinov\u00E9 varianty" . . . "We present a review of the spectrum and frequency of mutations of the β-globin gene in the Czech and Slovak patients with clinical symptoms of β-thalassaemia or δβ-thalassaemia and of Heinz body haemolytic anaemia associated with unstable haemoglobinopathies. In the Czech and Slovak populations, β-thalassaemia appears to be an uncommon disorder, which, however, must be considered as the prevailing cause of congenital hypochomic microcytic anaemia. All β-thalassaemia with phenotype that ranged from severe thalassaemia minor to thalassaemia intermedia. We hypothesize that genetic drift and migration in the past are responsible for introduction of the Mediterranean alleles, while several mutations, described in single families, originated locally in the Czech Republic and Slovakia."@en . . "P(NR7799), Z(MSM6198959205)" . "532413" . "β- a δβ-talasemick\u00E9 alely jsou ve st\u0159edn\u00ED Evrop\u011B relativn\u011B vz\u00E1cn\u00E9, p\u0159esto jsou v \u010Cesk\u00E9 republice i na Slovensku ne\u010Dast\u011Bj\u0161\u00ED p\u0159\u00ED\u010Dinou vrozen\u00E9 mirkocyt\u00E1rn\u00ED an\u00E9mie. V pr\u016Fb\u011Bhu 15 let jsme na molekul\u00E1rn\u00ED \u00FArovni identifikovali 19 r\u016Fzn\u00FDch β-talasemick\u00FDch alel a 2 δβ-talasemick\u00E9 alely u 230 \u010Dlen\u016F 109 rodin \u010Desk\u00E9ho a slovensk\u00E9ho p\u016Fvodu. V\u011Bt\u0161ina t\u011Bchto alel k n\u00E1m byla importov\u00E1na ze St\u0159edomo\u0159\u00ED. V\u0161ichni nemocn\u00ED byli heterozygotn\u00ED nosi\u010Di mutace s klinick\u00FDmi projevy talasemia minor, v\u00FDjime\u010Dn\u011B talasemia intermedia. Hemoglobinov\u00E9 varianty jsou v \u010Cesk\u00E9 republice a na Slovensku vz\u00E1cn\u00E9, klinicky i laboratorn\u011B jsou nejv\u00FDznamn\u011Bj\u0161\u00ED nestabiln\u00ED hemoglobinopatie, asociovan\u00E9 s vrozenou an\u00E9mi\u00ED s Heinzov\u00FDmi t\u011Bl\u00EDsky. Molekul\u00E1rn\u00ED p\u0159\u00ED\u010Diny mikrocyt\u00E1rn\u00ED an\u00E9mie s talasemick\u00FDmi rysy u n\u011Bkter\u00FDch rodin nejsou v\u00E1z\u00E1ny na globinov\u00E9 geny a jejich odhalov\u00E1n\u00ED p\u0159isp\u00EDv\u00E1 ke zp\u0159esn\u011Bn\u00ED diagnostiky i l\u00E9\u010Dby nemocn\u00FDch." . "RIV/61989592:15110/05:00001942" . "51" . . "β- a δβ-talasemick\u00E9 alely jsou ve st\u0159edn\u00ED Evrop\u011B relativn\u011B vz\u00E1cn\u00E9, p\u0159esto jsou v \u010Cesk\u00E9 republice i na Slovensku ne\u010Dast\u011Bj\u0161\u00ED p\u0159\u00ED\u010Dinou vrozen\u00E9 mirkocyt\u00E1rn\u00ED an\u00E9mie. V pr\u016Fb\u011Bhu 15 let jsme na molekul\u00E1rn\u00ED \u00FArovni identifikovali 19 r\u016Fzn\u00FDch β-talasemick\u00FDch alel a 2 δβ-talasemick\u00E9 alely u 230 \u010Dlen\u016F 109 rodin \u010Desk\u00E9ho a slovensk\u00E9ho p\u016Fvodu. V\u011Bt\u0161ina t\u011Bchto alel k n\u00E1m byla importov\u00E1na ze St\u0159edomo\u0159\u00ED. V\u0161ichni nemocn\u00ED byli heterozygotn\u00ED nosi\u010Di mutace s klinick\u00FDmi projevy talasemia minor, v\u00FDjime\u010Dn\u011B talasemia intermedia. Hemoglobinov\u00E9 varianty jsou v \u010Cesk\u00E9 republice a na Slovensku vz\u00E1cn\u00E9, klinicky i laboratorn\u011B jsou nejv\u00FDznamn\u011Bj\u0161\u00ED nestabiln\u00ED hemoglobinopatie, asociovan\u00E9 s vrozenou an\u00E9mi\u00ED s Heinzov\u00FDmi t\u011Bl\u00EDsky. Molekul\u00E1rn\u00ED p\u0159\u00ED\u010Diny mikrocyt\u00E1rn\u00ED an\u00E9mie s talasemick\u00FDmi rysy u n\u011Bkter\u00FDch rodin nejsou v\u00E1z\u00E1ny na globinov\u00E9 geny a jejich odhalov\u00E1n\u00ED p\u0159isp\u00EDv\u00E1 ke zp\u0159esn\u011Bn\u00ED diagnostiky i l\u00E9\u010Dby nemocn\u00FDch."@cs . "Rare forms of hereditary anaemia in the Czech and Slovak populations - β- and δβ-thalassaemia and unstable haemoglobin variants"@en . . "Tak\u00E1\u010Dov\u00E1, Sylvia" . . . . . . . . "886-893" . . . "RIV/61989592:15110/05:00001942!RIV06-MZ0-15110___" . "N\u011Bkter\u00E9 vz\u00E1cn\u011Bj\u0161\u00ED formy heredit\u00E1rn\u00EDch an\u00E9mi\u00ED vyskytuj\u00EDc\u00ED se v dosp\u011Bl\u00E9 populaci v \u010CR a SR - β-talasemie a nestabiln\u00ED hemoglobinov\u00E9 varianty" . "Indr\u00E1k, Karel" . "Divok\u00FD, Vladim\u00EDr" . . . "CZ - \u010Cesk\u00E1 republika" . . "\u010Cerm\u00E1k, Jaroslav" . "Divok\u00E1, Martina" . "N\u011Bkter\u00E9 vz\u00E1cn\u011Bj\u0161\u00ED formy heredit\u00E1rn\u00EDch an\u00E9mi\u00ED vyskytuj\u00EDc\u00ED se v dosp\u011Bl\u00E9 populaci v \u010CR a SR - β-talasemie a nestabiln\u00ED hemoglobinov\u00E9 varianty"@cs . . "β -thalassaemia; Heinz body haemolytic anaemia; unstable haemoglobin variants; Czech and Slovak populations"@en . . "11"^^ . . . "Walczyskov\u00E1, S." . . "8"^^ . "Priwitzerov\u00E1, Monika" .