SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis
Identifikátory výsledku
Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11310%2F12%3A10104955" target="_blank" >RIV/00216208:11310/12:10104955 - isvavai.cz</a>
Nalezeny alternativní kódy
RIV/61989592:15110/12:33140406 RIV/00216208:11110/12:11607 RIV/00064165:_____/12:11607
Výsledek na webu
<a href="http://dx.doi.org/10.1016/j.gene.2011.10.011" target="_blank" >http://dx.doi.org/10.1016/j.gene.2011.10.011</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.gene.2011.10.011" target="_blank" >10.1016/j.gene.2011.10.011</a>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis
Popis výsledku v původním jazyce
The aim of the study was to analyze frequency of SHOX gene defects and selected dysmorphic signs in patients of both idiopathic short stature (ISS) and Léri-Weill dyschondrosteosis (LWD), all derived from the Czech population. Overall, 98 subjects were analyzed in the study. Inclusion criteria were the presence of short stature (MINUS SIGN 2,0 SD), in combination with at least one of the selected dysmorphic signs for the ISS+ group; and the presence of Madelung deformity, without positive karyotyping for the LWD+ group. Each proband was analyzed by use of P018 MLPA kit, which covers SHOX and its regulatory sequences. Additionally, mutational analysis was done of the coding portions of the SHOX. Both extent and breakpoint localizations in the deletions/duplications found were quite variable. Some PAR1 rearrangements were detected, without obvious phenotypic association. In the ISS+ group, MLPA analysis detected four PAR1 deletions associated with a SHOX gene defect, PAR1 duplication wit
Název v anglickém jazyce
SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis
Popis výsledku anglicky
The aim of the study was to analyze frequency of SHOX gene defects and selected dysmorphic signs in patients of both idiopathic short stature (ISS) and Léri-Weill dyschondrosteosis (LWD), all derived from the Czech population. Overall, 98 subjects were analyzed in the study. Inclusion criteria were the presence of short stature (MINUS SIGN 2,0 SD), in combination with at least one of the selected dysmorphic signs for the ISS+ group; and the presence of Madelung deformity, without positive karyotyping for the LWD+ group. Each proband was analyzed by use of P018 MLPA kit, which covers SHOX and its regulatory sequences. Additionally, mutational analysis was done of the coding portions of the SHOX. Both extent and breakpoint localizations in the deletions/duplications found were quite variable. Some PAR1 rearrangements were detected, without obvious phenotypic association. In the ISS+ group, MLPA analysis detected four PAR1 deletions associated with a SHOX gene defect, PAR1 duplication wit
Klasifikace
Druh
J<sub>x</sub> - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
CEP obor
EB - Genetika a molekulární biologie
OECD FORD obor
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Návaznosti výsledku
Projekt
<a href="/cs/project/NS10327" target="_blank" >NS10327: Komplexní genetická analýza u pacientů s mentální retardací a dysmorfiemi - stanovení vhodného diagnostického postupu</a><br>
Návaznosti
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>S - Specificky vyzkum na vysokych skolach
Ostatní
Rok uplatnění
2012
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
Gene
ISSN
0378-1119
e-ISSN
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Svazek periodika
491
Číslo periodika v rámci svazku
2
Stát vydavatele periodika
NL - Nizozemsko
Počet stran výsledku
5
Strana od-do
123-127
Kód UT WoS článku
000298535400004
EID výsledku v databázi Scopus
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