J 2015

A screen of a large Czech cohort of oligodontia patients implicates a novel mutation in the PAX9 gene

ŠERÝ, Omar, Ondřej BONCZEK, Alena HLOUŠKOVÁ, Pavlína ČERNOCHOVÁ, Jiří VANĚK et. al.

Basic information

Original name

A screen of a large Czech cohort of oligodontia patients implicates a novel mutation in the PAX9 gene

Name in Czech

Screening velké české kohorty pacientů s oligodoncií prokázal novou mutaci v genu pro PAX9

Authors

ŠERÝ, Omar (203 Czech Republic, guarantor, belonging to the institution), Ondřej BONCZEK (203 Czech Republic, belonging to the institution), Alena HLOUŠKOVÁ (203 Czech Republic, belonging to the institution), Pavlína ČERNOCHOVÁ (203 Czech Republic, belonging to the institution), Jiří VANĚK (203 Czech Republic, belonging to the institution), Ivan MÍŠEK (203 Czech Republic, belonging to the institution), Přemysl KREJČÍ (203 Czech Republic) and Lydie IZAKOVIČOVÁ HOLLÁ (203 Czech Republic, belonging to the institution)

Edition

EUROPEAN JOURNAL OF ORAL SCIENCES, Blackwell, 2015, 0909-8836

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30200 3.2 Clinical medicine

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 1.607

RIV identification code

RIV/00216224:14310/15:00080625

Organization unit

Faculty of Science

DOI

http://dx.doi.org/10.1111/eos.12170

UT WoS

000351166700002

Keywords (in Czech)

PAX9; ageneze zubů; oligodoncie; jednovaječná dvojčata; mutační screening

Keywords in English

PAX9; tooth agenesis; oligodontia; monozygotic twins; mutation screening

Tags

AKR, EL OK, podil, rivok
Změněno: 24/3/2016 10:03, Ing. Andrea Mikešková

Abstract

ORIG CZ

V originále

The aim of the present study was to perform screening for mutations and/or polymorphisms in the critical regions of PAX9 and MSX1 genes in a group of 270 patients with tooth agenesis and in 30 healthy subjects of the Czech origin.

In Czech

Cílem této práce bylo provedení screeningu mutací a/nebo polymorfizmů v kritických oblastech PAX9 a MSX1 genů u skupiny 270 pacientů s agenezí zubů a 30 zdravých kontrol v české populaci.

Links

GB14-37368G, research and development project
Name: Centrum orofaciálního vývoje a regenerace
Investor: Czech Science Foundation
NT11420, research and development project
Name: Molekulární diagnostika hypodoncie a možnosti zubních autotransplantací
Displayed: 16/11/2024 16:10