Modelli di ereditarietà mendeliana complicati - SunHope

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$(Microsoft PowerPoint - valvulopatie \\$Calabr\\362\\$\) - SunHope.it$

RETINITIS PIGMENTOSA Isolated or syndromic The main syndromic forms are: Usher syndrome: RP + deafness Bardet-Biedle syndrome: RP + mental retardation + renal anomalies + hypogona<strong>di</strong>sm + polydactyly, etc.
RETINITIS PIGMENTOSA Molecular genetics Over 130 loci involved in retinal <strong>di</strong>seases have been mapped. At least seventy of these loci are involved in the pathogenesis of RPs (both isolated and syndromic) Over 45 RP genes have been identified From RETnet, http://www.sph.uth.tmc.edu/Retnet/home.htm
Page 1 and 2: Complicazioni rispetto ai principal
Page 5 and 6: Espressività variabile Manifestazi
Page 9 and 10: Penetranza incompleta la penetranza
Page 11 and 12: Un esempio di penetranza incompleta
Page 15: RETINITIS PIGMENTOSA The most frequ
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 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 and 66: METILAZIONE DIFFERENZIALE (presenza
Page 67 and 68:
IMPRINTING E MALATTIE GENETICHE •
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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