Modelli di ereditarietà mendeliana complicati - SunHope

More documents

Recommendations

Info

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

Human 11p15.5 CARS 11p15.5 Imprinting Cluster NAP1L4 TSSC3 TSSC5 CDKN1C KCNQ1OT1/ LIT1 KCNQ1 LTRPC5 TSSC4 CD81 TSSC6 ASCL2 Domain 1 Th TH Ins2 INS Igf2 IGF2 H19 H19 RPL23 cen tel Cars Nap1l4 Tssc3 Tssc5 Cdkn1c IC2 Kcnq1ot1/ Lit1 Kcnq1 Ltrpc5 Tssc4 Cd81 Tssc6 Ascl2 IC1 IC1 100kb John et al., 1998
Pathogenesis of BWS CDKN1C KCNQ1OT1/ LIT1 cen tel IC2 Domain 2 IGF2 Excess of paternally expressed genes Defect of maternally expressed genes H19 IC1 Domain 1
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 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: Silver-Russell syndrome (SRS) conge
Page 81 and 82: La genetica della sindrome BWS •
Page 83 and 84: MODELLO DEL CONFLITTO PARENTALE •
show all

Modelli di ereditarietà mendeliana complicati - SunHope

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?