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[null,"1.","Record Nr.",null,"UNINA990006057900403321"]
[null,null,"Autore",null,"Marcuzzo, Maria Cristina"]
[null,null,"Titolo",null,"La teoria del gold standard : Ricardo e il suo tempo / di Maria Cristina Marcuzzo, Annalisa Rosselli"]
[null,null,"Pubbl/distr/stampa",null,"Bologna : il Mulino, 1986"]
[null,null,"ISBN",null,"88-15-01141-2"]
[null,null,"Descrizione fisica",null,"264 p. ; 21 cm"]
[null,null,"Collana",null,"Saggi ; 306"]
[null,null,"Disciplina",null,"332.401"]
[null,null,"Locazione",null,"DECTS"]
[{"$nulls":4},"SES"]
[{"$nulls":4},"FSPBC"]
[{"$nulls":4},"DTE"]
[{"$nulls":4},"DECSE"]
[{"$nulls":4},"FGBC"]
[null,null,"Collocazione",null,"ISVE B1-B3.32"]
[{"$nulls":4},"D/3.23 MAR"]
[{"$nulls":4},"COLLEZ. 75 (306)"]
[{"$nulls":4},"XV F1 108"]
[{"$nulls":4},"SE 036.07.18-"]
[{"$nulls":4},"COLLEZ. 117 (306)"]
[null,null,"Lingua di pubblicazione",null,"Italiano"]
[null,null,"Formato",null,"Materiale a stampa"]
[null,null,null,"Livello bibliografico","Monografia"]
[null,"2.","Record Nr.",null,"UNINA9910887856403321"]
[null,null,"Autore",null,"Weksberg Rosanna"]
[null,null,"Titolo",null,"Imprinting disorders associated with molecular changes on chromosome 11p15 / / Rosanna Weksberg"]
[null,null,"Pubbl/distr/stampa",null,"London, : Henry Stewart Talks, 2014"]
[null,null,"Descrizione fisica",null,"1 online resource (1 streaming video file (37 min.) : color, sound)"]
[null,null,"Collana",null,"Molecular genetics of human disease, , 2056-452X"]
[null,null,"Soggetti",null,"Epigenetics"]
[{"$nulls":4},"Genetic disorders"]
[{"$nulls":4},"Genomic imprinting"]
[{"$nulls":4},"Medical genetics"]
[{"$nulls":4},"Molecular genetics"]
[{"$nulls":4},"Beckwith-Wiedemann Syndrome"]
[{"$nulls":4},"Chromosomes, Human, Pair 11 - genetics"]
[{"$nulls":4},"Epigenesis, Genetic"]
[{"$nulls":4},"Genomic Imprinting - genetics"]
[{"$nulls":4},"Molecular Diagnostic Techniques"]
[{"$nulls":4},"Mosaicism"]
[{"$nulls":4},"Silver-Russell Syndrome"]
[null,null,"Lingua di pubblicazione",null,"Inglese"]
[null,null,"Formato",null,"Videoregistrazione"]
[null,null,null,"Livello bibliografico","Monografia"]
[null,null,null,"Note generali","Animated audio-visual presentation with synchronized narration."]
[{"$nulls":4},"Title from title frames."]
[null,null,"Nota di contenuto",null,"Contents: What is epigenetics? -- Epigenetic regulation forms the molecular basis for genomic imprinting -- What is genomic imprinting -- Imprinted genes in early development -- Genomic organization of imprinted genes -- Imprinting center -- Imprinted domain 1 on chromosome 11p15.5 -- Complexity of imprinted clusters -- Beckwith-Wiedemann syndrome (BWS) -- BWS: a complex, clinically heterogeneous disorder -- Molecular basis of BWS -- Etiology of the Beckwith-Wiedemann syndrome -- Molecular alterations associated with BWS -- Frequency of molecular alterations in BWS -- The risks to subfertile/ART treated parents -- Subfertility/assisted reproductive technologies (ART) -- BWS molecular defects -- Multiple phenotypes associated with somatic mosaicism for 11p15 UPD -- Somatic mosaicism -- Isolated hemihyperplasia -- High level constitutional UPD "]
[{"$nulls":4},"-- BWS molecular testing strategies -- Laboratory testing for BWS -- MS-MLPA -- Expected methylation results from MS-MLPA -- MLPA molecular testing for BWS -- Cancer risk & surveillance -- Prenatal testing options -- Current challenges in BWS molecular testing -- Frequency of CNVs according to methylation pattern -- Monozygotic twins and BWS -- Isolated hemihyperplasia -- Current challenges in chromosome 11p15 molecular testing -- Russell-Silver syndrome (RSS -- Chromosomal regions associated with RSS -- Targeted assays of multiple imprinted loci-BWS -- Different combinations of epigenetic alterations associated with variations in clinical phenotype -- Imprint deregulation causing disease in humans."]