Pregled bibliografske jedinice broj: 409682
Cytogenetic and molecular study over the period of 13 years in patients with contigous gene syndromes.
Cytogenetic and molecular study over the period of 13 years in patients with contigous gene syndromes. // Paediatria Croatica
Cavtat, Hrvatska, 2009. (poster, domaća recenzija, sažetak, stručni)
CROSBI ID: 409682 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Cytogenetic and molecular study over the period of 13 years in patients with contigous gene syndromes.
Autori
Lasan Trčić, R ; Kušpilić, M ; Crkvenac Gornik, K ; Letica, Lj ; Tonković Đurišević, I ; Mužinić, D ; Huljev, S ; Begović, D
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni
Izvornik
Paediatria Croatica
/ - , 2009
Skup
Balkanski kongres humane genetike
Mjesto i datum
Cavtat, Hrvatska, 14.05.2009. - 17.05.2009
Vrsta sudjelovanja
Poster
Vrsta recenzije
Domaća recenzija
Ključne riječi
FISH; DiGeorge
Sažetak
418 patients with contiguous gene syndromes have been investigated with high resolution chromosome analysis, FISH, and recently molecular methodes in the 1996-2009 period. Among 199 patients and families suspected of having DiGeorge or velocardiofacial syndrome 36 had microdeletion 22q11.2 (one with karyotype 47, XXY).
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Projekti:
108-0000000-0353 - Novi pristupi dijagnostici nasljednih bolesti (Begović, Davor, MZOS ) ( CroRIS)
Ustanove:
Medicinski fakultet, Zagreb
Profili:
Ružica Lasan Trčić
(autor)
Dubravka Mužinić-Belinec
(autor)
Davor Begović
(autor)
Grozdan Kušpilić
(autor)
