DOSTÁL, Aleš, Jitka NĚMEČKOVÁ, Renata GAILLYOVÁ, Vladimíra VRANOVÁ, Dita ŽEŽULKOVÁ, Mojmír LEJSKA, Ivo ŠLAPÁK, Zuzana DOSTÁLOVÁ and Petr KUGLÍK. Identification of 2.3-Mb gene Locus for Congenital Aural Atresia in 18q22.3 Deletion: A Case Report Analysed by Comparative Genomic Hybridization. Otology and Neurotology. 2006, vol. 27, No 3, p. 427-432, 5 pp. ISSN 1531-7129.
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Basic information
Original name Identification of 2.3-Mb gene Locus for Congenital Aural Atresia in 18q22.3 Deletion: A Case Report Analysed by Comparative Genomic Hybridization
Name in Czech Identifikace 2,3 Mb genového lokusu deletovaného v úseku 18q22.3 u congenitální aurální atrézie: kazuistika analyzovaná pomocí komparativní genomové hybridizace
Authors DOSTÁL, Aleš (203 Czech Republic), Jitka NĚMEČKOVÁ (203 Czech Republic), Renata GAILLYOVÁ (203 Czech Republic), Vladimíra VRANOVÁ (703 Slovakia), Dita ŽEŽULKOVÁ (203 Czech Republic), Mojmír LEJSKA (203 Czech Republic), Ivo ŠLAPÁK (203 Czech Republic), Zuzana DOSTÁLOVÁ (203 Czech Republic) and Petr KUGLÍK (203 Czech Republic, guarantor).
Edition Otology and Neurotology, 2006, 1531-7129.
Other information
Original language English
Type of outcome Article in a journal
Field of Study Genetics and molecular biology
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 1.339
RIV identification code RIV/00216224:14310/06:00017755
Organization unit Faculty of Science
UT WoS 000236680500022
Keywords in English conductive hearing loss; congenital aural atresia; 18q22.3 deletion; comparative genomic hybridization
Tags 18q22.3 deletion, comparative genomic hybridization, conductive hearing loss, congenital aural atresia
Tags Reviewed
Changed by Changed by: doc. RNDr. Petr Kuglík, CSc., učo 1881. Changed: 18/1/2007 14:00.
Abstract
The study describes one 18q deletion syndrome clinical report analysed by comparative genomic hybridization with an overview of 19 other selected 18q deletion syndrome patients presenting congenital aural atresia from 18 published articles and one presented poster on 18q deletion syndrome.
Abstract (in Czech)
Práce popisuje identifikaci delece 18q pomoci komparativní genomové hybridizace u jednoho pacienta s kongenitální aurální atrézií a shrnuje dosavadní literární poznatky o deleci kritického úseku 18q22.3 u pacientů s tímto syndromem.
Links
MSM0021622415, plan (intention)Name: Molekulární podstata buněčných a tkáňových regulací
Investor: Ministry of Education, Youth and Sports of the CR, Molecular basis of cell and tissue regulations
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