ENFERMEDADES GENETICAS - JosÃ© Mordoh

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Genomic Imprinting • Some genes are turned off when inherited from the father and turned on when inherited from the mother. • Other genes are turned on when inherited from father but turned off when inherited from mother. • Mechanisms: methylation; phosphorylation of histones.
SINDROME DE PRADER-WILLI Hiperfagia,Hipotonia, Hipogonadismo, Obesidad SINDROME DE ANGELMANS “Sindrome de Happy Puppet”
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ENFERMEDADES GENETICAS MEDICINA MOL
Page 3 and 4:
Cariotipo normal
Page 5 and 6:
RNA Splicing RNA transcript before
Page 7 and 8:
Transcriptional Regulation: I: Meth
Page 9 and 10:
X Chromosome Inactivation (Lyonizat
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X X X X X X X X Black Fur Orange Fu
Page 16 and 17:
Y-chromosome genes
Page 22 and 23: Methods of Prenatal Genetic Testing
Page 24 and 25: A diagram of technique of amniocent
Page 27 and 28: • Further more it is vital that w
Page 29 and 30: DEFINICIONES • LOCUS: Segmento de
Page 31 and 32: RFLP (Restriction Fragment Length P
Page 34 and 35: ENFERMEDADES GENETICAS (3-5%) • T
Page 36 and 37: Meiosis Parent cell - chromosome pa
Page 38 and 39: Nondisjunction of X chromosome Nond
Page 40 and 41: Down syndrome—maternal age effect
Page 42 and 43: Frequent Chromosome Abnormalities D
Page 44 and 45: 48,XXXY
Page 46 and 47: SINDROMES KLINEFELTER Y TURNER
Page 48 and 49: EXAMPLES OF DIFFERENT TYPES OF MUTA
Page 50 and 51: Types of Mutation • Deletion - DN
Page 53 and 54: PENETRANCIA Está definida por la e
Page 55: Selected Monogenic Disorders Autoso
Page 58: Destrucción del tejido pulmonar en
Page 61 and 62: ENFERMEDADES MULTIFACTORIALES O RAS
Page 63 and 64: SINDROME DE RETARDO MENTAL POR X FR
Page 67: Triplet Repeat Diseases
Page 70 and 71: Principles of Molecular Medicine, 1
Page 77 and 78: ENFERMEDADES GENETICAS • Trastorn
Page 86: La Terapia Génica
Page 89 and 90: CLASIFICACION DE LA TERAPIA GENICA
Page 91: Sistema de transferencia de genes t
Page 94 and 95: CONDICIONANTES DEL ÉXITO DE LA TG
Page 97 and 98: TERAPIA GENICA PARA FQ CON ADENOVIR
Page 99 and 100: Gene therapy: ornithine transcarbam
Page 101: Inmunoterapia génica Inducir una r
Page 104 and 105: Gene therapy: ornithine transcarbam
Page 106 and 107: Toxicidad de la terapia génica
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ENFERMEDADES GENETICAS - JosÃ© Mordoh

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