. . . "More effective and more precise diagnostics of population and clinically most significant microdeletion syndromes, longitudinal follow up of phenotype changes. Diagnostic criteria and clinical genetic, molecular cytogenetic and molecular genetic procedur Recommendation of an algorithm of procedures how to investigate patients with microdeletion syndromes for medical specialists who can see patients and families with microdeletion syndromes. Characterisation and specification of critical chromosomal redions associated with microdeletion syndromes using molecular cytogenetic and molecular genetic methods. Genotype-phenotype relations. Focus on syndromes CATCH22, Prader-Willi, Angelman, Williams-Beuren, Smith-Magenis, Miller-Dieker, Rubinstein-Taybi."@en . "NE6912" . "syndrome DiGeorge" . "microdeletion syndromes;submicroscopic deletions;syndrome DiGeorge;CATCH22;syndromes Prader-Willi/Angelma;syndrome Williams-Beuren;syndrome Smith-Magenis;syndrome Miller Dieker"@en . "2006-06-23+02:00"^^ . . . "Submicroscopic chromosomal deletions - genotype-phenotype relation and a longitudinal study of patients"@en . . . "submicroscopic deletions" . "CATCH22" . "microdeletion syndromes" . . . . . "syndrome Williams-Beuren" . "Clinic.examination+molec.cytogenetic analyses were used in 401pacients suspicious of microdel.syndrome(CATCH22,Williams-Beuren,Prader-Willi,Angelman,Xlinked ichtyosis,Rubinstein-Taybi,Nijmegen Breakage)inc.suspicion of subtelomeric rearrangements."@en . "Klin.+molek.cytogenticky bylo vy\u0161et\u0159eno 401 pacient\u016F s podez\u0159.na v\u00FDskyt mikrodele\u010D.syndr.(CATCH22,Williams-Beuren,Prader-Willi+Angelman,Xv\u00E1zan\u00E9 ichtyozy,Rubinstein-Taybi,Nijmegen Breakage)v\u010D.podez\u0159en\u00ED na subtelometr.p\u0159estavby,sledov\u00E1n vztah geno+fenotypu"@cs . . . . "0"^^ . . . "0"^^ . "syndrome Smith-Magenis" . "http://www.isvav.cz/projectDetail.do?rowId=NE6912"^^ . . "1"^^ . . "syndromes Prader-Willi/Angelma" . "Submikroskopick\u00E9 delece chromozom\u016F - vztah genotypu a fenotypu a longitudin\u00E1ln\u00ED sledov\u00E1n\u00ED pacient\u016F" . "Zefektivn\u011Bn\u00ED a zkvalitn\u011Bn\u00ED \u010Dasn\u00E9 diagnostiky popula\u010Dn\u011B a klinicky nejv\u00FDznamn\u011Bj\u0161\u00EDch mikrodele\u010Dn\u00EDch syndrom\u016F, longitudin\u00E1ln\u00ED sledov\u00E1n\u00ED v\u00FDvoje fenotyp\u016F. Diagnostick\u00E1 kriteria a postupy vy\u0161et\u0159en\u00ED klinicko-genetick\u00FDch , cytogenetick\u00FDch a molekul\u00E1rn\u011B genetick\u00FD Doporu\u010Den\u00ED algoritmu vy\u0161et\u0159ov\u00E1n\u00ED pacient\u016F s mikrodele\u010Dn\u00EDmi syndromy pro medic\u00EDnsk\u00E9 obory setk\u00E1vaj\u00EDc\u00ED se s posti\u017Een\u00FDmi jedinci a jejich rodinami. Charakterizace a specifikace kritick\u00FDch chromozom\u00E1ln\u00EDch oblast\u00ED spojen\u00FDch s mikrodele\u010Dn\u00EDmi syndromy pomoc\u00ED metod molekul\u00E1rn\u00ED cytogenetiky a molekul\u00E1rn\u00ED genetiky. Vztah genotypu a fenotypu z hlediska variability posti\u017Een\u00ED. Zam\u011B\u0159en\u00ED na syndromy CATCH22, Prader-Willi, Angelman, Williams-Beuren, Smith-Magenis, Miller-Dieker, Rubinstein-Taybi" . "7"^^ . . "7"^^ . .