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Record Nr. |
UNISOBSON0001132 |
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Autore |
Vignocchi, Gustavo |
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Titolo |
Corso di Diritto Pubblico / Gustavo Vignocchi ; Giulio Ghetti |
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Pubbl/distr/stampa |
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ISBN |
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Edizione |
[6. ed. integralmente riveduta e aggiornata] |
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Descrizione fisica |
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Altri autori (Persone) |
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Lingua di pubblicazione |
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Formato |
Materiale a stampa |
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Livello bibliografico |
Monografia |
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Note generali |
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2. |
Record Nr. |
UNINA9910887856403321 |
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Autore |
Weksberg Rosanna |
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Titolo |
Imprinting disorders associated with molecular changes on chromosome 11p15 / / Rosanna Weksberg |
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Pubbl/distr/stampa |
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London, : Henry Stewart Talks, 2014 |
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Descrizione fisica |
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1 online resource (1 streaming video file (37 min.) : color, sound) |
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Collana |
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Molecular genetics of human disease, , 2056-452X |
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Soggetti |
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Epigenetics |
Genetic disorders |
Genomic imprinting |
Medical genetics |
Molecular genetics |
Beckwith-Wiedemann Syndrome |
Chromosomes, Human, Pair 11 - genetics |
Epigenesis, Genetic |
Genomic Imprinting - genetics |
Molecular Diagnostic Techniques |
Mosaicism |
Silver-Russell Syndrome |
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Lingua di pubblicazione |
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Formato |
Videoregistrazione |
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Livello bibliografico |
Monografia |
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Note generali |
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Animated audio-visual presentation with synchronized narration. |
Title from title frames. |
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Nota di contenuto |
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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 -- 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. |
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