Modelli di ereditarietà mendeliana complicati - SunHope

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Beckwith-Wiedemann syndrome (BWS, overgrowth • neonatal hypoglycemia • visceromegaly • ear pits/creases 1/13700) macroglossia abdominal wall defects • naevus flammeus • hemihypertrophy • increased susceptibility to childhood tumours
Silver-Russell syndrome (SRS) congenital dwarfism body asymmetry triangular face
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Complicazioni rispetto ai principal
Page 3 and 4:
Page 5 and 6:
Espressività variabile Manifestazi
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Page 9 and 10:
Penetranza incompleta la penetranza
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Un esempio di penetranza incompleta
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Page 15 and 16:
RETINITIS PIGMENTOSA The most frequ
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RETINITIS PIGMENTOSA Molecular gene
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MOLECULAR PATWAYS INVOLVED IN RP PA
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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: The PWS/AS Imprinting Cluster
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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