Modelli di ereditarietà mendeliana complicati - SunHope

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Genomic Imprinting and Human Disease Syndromes involving imprinted genes Beckwith–Wiedemann syndrome Prader–Willi syndrome Angelman syndrome Silver–Russell syndrome Transient neonatal diabetes mellitus PHP1b, Albright hereditary osteodystrophy Familial nonchromaffin paraganglioma Maternal and paternal UPD14 syndromes Syndromes that probably involve imprinted genes Turner syndrome phenotypes Familial pre-eclampsia Maternal UPD2 syndrome Maternal UPD16 syndrome Complex genetic diseases with parent-of-origin effects Asthma, atopy Autism Hirschsprung disease Cornelia de Lange syndrome Psoriasis Handedness Type I diabetes Type II diabetes Alcoholism Alzheimer disease Bipolar affective disorder Schizophrenia
IMPRINTING E MALATTIE GENETICHE • Delezione del gene; • Mutazioni del centro dell’imprinting; • Disomia uniparentale (UDP). • SINDROME DI BECKWITH-WIEDEMANN • SINDROME DI SILVER RUSSEL • SINDROME DI PRADER-WILLI • SINDROME DI ANGELMAN. 11p15.5 15q11-13
Page 1 and 2:
Complicazioni rispetto ai principal
Page 3 and 4:
Page 5 and 6:
Espressività variabile Manifestazi
Page 7 and 8:
Page 9 and 10:
Penetranza incompleta la penetranza
Page 11 and 12:
Un esempio di penetranza incompleta
Page 13 and 14:
Page 15 and 16: RETINITIS PIGMENTOSA The most frequ
Page 17 and 18: RETINITIS PIGMENTOSA Molecular gene
Page 19 and 20: MOLECULAR PATWAYS INVOLVED IN RP PA
Page 21 and 22: MOLECULAR PATWAYS INVOLVED IN RP PA
Page 23 and 24: RETINITIS PIGMENTOSA All types of i
Page 25 and 26: GENES MOST COMMONLY INVOLVED IN Oth
Page 27 and 28: GENES INVOLVED IN AR-RP MERTK PDE6B
Page 29 and 30: GENES INVOLVED IN XL-RP RPGR (RP3)
Page 31 and 32: GENES INVOLVED IN BARDET- BIEDLE SY
Page 33 and 34: - new mutations - recessive inherit
Page 35 and 36: DIGENIC INHERITANCE HAS BEEN OBSERV
Page 37 and 38: Mosaicismo Mosaicismo: condizione i
Page 39 and 40: Mosaicismo Mosaicismo germinale: ne
Page 41 and 42: Complicazioni rispetto ai principal
Page 43 and 44: Come apparira’ un’albero di mal
Page 45 and 46: Alcune classi particolari di malatt
Page 47 and 48: Le proteine mitocondriali sono prod
Page 49 and 50: POLIPLASMIA In ogni cellula sono pr
Page 51 and 52: - 16.569 bp GENOMA MITOCONDRIALE -
Page 53 and 54: Malattie mitocondriali L’eredita
Page 55 and 56: Neuropatia Ottica Ereditaria di Leb
Page 57 and 58: IMPRINTING GENOMICO: La battaglia d
Page 59 and 60: The expression of an imprinted gene
Page 61 and 62: Altre osservazioni • Gravidanze u
Page 63 and 64: CARATTERISTICHE DEI GENI IMPRINTED
Page 65: METILAZIONE DIFFERENZIALE (presenza
Page 69 and 70: Sindrome di Prader - Willi • Ipot
Page 71 and 72: Prader-Willi (PWS) Angelman (AS)
Page 73 and 74: Il gene PWS è espresso Esclusivame
Page 75 and 76: The PWS/AS Imprinting Cluster
Page 77 and 78: Silver-Russell syndrome (SRS) conge
Page 79 and 80: Pathogenesis of BWS CDKN1C KCNQ1OT1
Page 81 and 82: La genetica della sindrome BWS •
Page 83 and 84: MODELLO DEL CONFLITTO PARENTALE •
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Modelli di ereditarietà mendeliana complicati - SunHope

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