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Libros sobre el tema "Syndrome de Rett – Génétique"

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Publicado: 8 de marzo de 2025

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1

1947-, Atkinson Paul, ed. Creating conditions: The making and re-making of a genetic syndrome. Abingdon, Oxon: Routledge, 2011.

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2

National Institute of Neurological Disorders and Stroke (U.S.). Office of Communications and Public Liaison, ed. Rett syndrome. Bethesda, Md: U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, 2003.

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3

M, Opitz John, Reynolds James F, Spano Lavelle M, Kennedy Institute for Handicapped Children (Baltimore, Md.) y Workshop on Rett Syndrome (1985 : Kennedy Institute for Handicapped Children), eds. The Rett syndrome. New York: A.R. Liss, 1986.

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4

Merrick, Joav y Meir Lotan. Rett syndrome: Therapeutic interventions. New York: Nova Science Publishers, 2011.

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5

National Institute of Neurological Disorders and Stroke (U.S.). Office of Communications and Public Liaison. Rett syndrome fact sheet. Bethesda, Md: U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, 2011.

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6

Maria, Anvret, Hagberg Bengt y Wahlstrom Jan, eds. Rett syndrome: Clinical & biological aspects. London: Mac Keith Press, 1993.

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7

Lewis, Jackie. Pathways to learning in Rett Syndrome. London: Rett Syndrome Association (U.K.), 1996.

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8

Lewis, Jackie. Pathways to learning in Rett Syndrome. London: D. Fulton, 1998.

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9

Parker, James N. y Philip M. Parker. The official parent's sourcebook on Rett syndrome. Editado por Icon Group International Inc y NetLibrary Inc. San Diego, Calif: Icon Health Publications, 2002.

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10

Crompton, Helen P. Rett syndrome, rare diseases and UK research. Manchester: Business School, 2001.

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11

Crompton, Helen P. Rett syndrome, rare diseases and UK research. Manchester: MMU Business School, 2001.

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12

Crompton, Helen P. Rett syndrome, rare diseases and UK research. Manchester: Manchester Metropolitan University Business School, 2001.

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13

Montague, Janette. Music therapy in the treatment of Rett Syndrome. Glasgow: Wm. Brown for the National Rett Syndrome Association, 1988.

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14

Brickwood, Sarah-Jane. Nucleosome binding, expression and function of MeCP2 and its Rett Syndrome associated mutations. Portsmouth: University of Portsmouth, 2004.

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15

Parker, James N. y Philip M. Parker. Rett syndrome: A medical dictionary, bibliography, and annotated research guide to Internet references. San Diego, CA: ICON Health, 2003.

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16

Murphy, Jane W. Can do fun: Adapted communication and motor activities for Rett Syndrome and other developmental disabilities. Solana Beach, Ca: Mayer-Johnson, Inc., 2002.

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17

Zimmermann, Susan. Grief dancers: A journey into the depths of the soul. Golden, Colo: Nemo Press, 1996.

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18

Murphy, Jane W. Can do fun. Portland, Or: Soupbone, Inc., 2001.

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19

Robinson, Elaine. The search for disomy and/or skewed x-inactivation in carriers of x-linked diseases, in female monozygotic twin pairs, and in Rett syndrome. Birmingham: University of Birmingham, 1997.

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20

J, Epstein Charles, Nadel Lynn y National Down Syndrome Society (U.S.), eds. Down syndrome and Alzheimer disease: Proceedings of the National Down Syndrome Society Conference on Down Syndrome and Alzheimer Disease, held in New York, January 16 and 17, 1992. New York: Wiley-Liss, 1992.

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21

Sandra, Pagés, ed. Mi cruz llena de rosas: Cartas a Sandra, mi hija enferma. 2a ed. Miami, Fla: Ediciones Universal, 1998.

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22

Sandra, Pagés, ed. Mi cruz llena de rosas: Cartas a Sandra, mi hija enferma. Miami, Fla: Ediciones Universal, 1996.

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23

Reader's Digest Association. SelectEditions: Volume 2 2000. Pleasantville, N.Y: Reader's Digest Association, Inc., 2000.

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24

Luanne, Rice, Hillerman Tony, Iles Greg, Francis Dick y Reader's Digest Association, eds. SelectEditions: Volume 2 2000. Pleasantville, N.Y: Reader's Digest Association, 2000.

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25

Luanne, Rice, Hillerman Tony, Iles Greg, Francis Dick y Reader's Digest Association, eds. SelectEditions: Volume 2 2000. Pleasantville, N.Y: Reader's Digest Association, 2000.

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26

Y, Chen Irvin S., ed. Transacting functions of human retroviruses. Berlin: Springer-Verlag, 1995.

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27

Association, Reader's Digest, ed. SelectEditions: Volume 3 2000. Pleasantville, N.Y: Reader's Digest Association, 2000.

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28

Association, Reader's Digest, ed. SelectEditions: Volume 3 2000. Pleasantville, N.Y: Reader's Digest Association, 2000.

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29

Featherstone, Katie y Paul Atkinson. Creating Conditions: The Making and Remaking of a Genetic Syndrome. Taylor & Francis Group, 2013.

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30

Creating Conditions: The Making and Remaking of a Genetic Syndrome. Taylor & Francis Group, 2014.

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31

Featherstone, Katie y Paul Atkinson. Creating Conditions: The Making and Remaking of a Genetic Syndrome. Taylor & Francis Group, 2013.

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32

Featherstone, Katie y Paul Atkinson. Creating Conditions: The Making and Remaking of a Genetic Syndrome. Taylor & Francis Group, 2013.

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33

Featherstone, Katie y Paul Atkinson. Creating Conditions: The Making and Remaking of a Genetic Syndrome. Taylor & Francis Group, 2013.

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34

Evaluer et faciliter la communication des personnes en situation de handicap complexe. : Polyhandicap, syndrome d'Angelman, syndrome de Rett, autres anomalies génétiques, autisme déficitaire, AVC sévère, traumatisme crânien, démences,... De Boeck, 2018.

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35

Smith-Hicks, C. L. y S. Naidu. Rett Syndrome. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0054.

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Rett Syndrome (RTT) is a neurodevelopmental disorder that predominantly affects females but males with RTT have been identified. RTT was first described by an Austrian pediatrician, Andreas Rett. Rett syndrome was mapped to chromosome Xq28 in 1998 and a year later it was determined to be due to mutations in the MeCP2 gene at this locus. Identification of the gene led to the broadening of the clinical phenotype and further characterization into classic and atypical forms of the disease that overlap with Autism spectrum disorders during the period of regression. More than 95% of individuals with classic RTT have mutations in the MeCP2 gene.
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36

Rett syndrome. Rockville, Md: U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, National Institute of Child Health and Human Development, 2001.

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37

Kaufmann, Walter. Rett Syndrome. Mac Keith Press, 2017.

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38

Fabio, Rosa Angela, Tindara Caprì y Gabriella Martino. Understanding Rett Syndrome. Routledge, 2019. http://dx.doi.org/10.4324/9780429470851.

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39

Martino, Gabriella, Rosa Angela Fabio y Tindara Caprì. Understanding Rett Syndrome. Taylor & Francis Group, 2019.

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40

OPITZ, JM. Opitz: Rett Syndrome. John Wiley & Sons Inc, 1986.

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41

Martino, Gabriella, Rosa Angela Fabio y Tindara Caprì. Understanding Rett Syndrome. Taylor & Francis Group, 2019.

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42

The Rett Syndrome handbook. International Rett Syndrome Association, 2007.

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43

Merrick, Joav y Meir Lotan. Rett Syndrome: Therapeutic Interventions. Nova Science Publishers, Incorporated, 2011.

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44

Lotan, Meir. Rett Syndrome: Therapeutic Interventions. Nova Science Publishers, Incorporated, 2020.

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45

Elefant, Cochavit. Music Therapy and Rett Syndrome. Editado por Jane Edwards. Oxford University Press, 2015. http://dx.doi.org/10.1093/oxfordhb/9780199639755.013.26.

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Rett syndrome (RTT) is a genetic disorder resulting from an X-linked dominant mutation in MECP2 gene. It primarily affects females and is found in a variety of racial and ethnic groups worldwide with a versatile clinical phenotype. This chapter describes the authors musical and personal encounters with individuals with RTT and their families over many years with the aim of helping the reader to understand what lies behind those deep and penetrating eyes and behind the “screaming silence”. Through short vignettes, I will shed light on these girls’ inner capacity and demonstrate how music can help to bring them to life as well as motivate their families. Interactions in music therapy provide an opportunity to discover hidden resources that may not be readily accessed because of the disability. With each positive shift in musical interactions, the person can become empowered and experience new challenges that enhance growth.
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46

Wilson, Debbie. Pathways to Learning in Rett Syndrome. Taylor & Francis Group, 2013.

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47

Wilson, Debbie. Pathways to Learning in Rett Syndrome. Taylor & Francis Group, 2013.

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48

Wilson, Debbie. Pathways to Learning in Rett Syndrome. Routledge, 2013. http://dx.doi.org/10.4324/9781315068206.

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49

Galbraith, L. C. Ella Has a Secret: Rett Syndrome. Helping Books, The, 2023.

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50

Galbraith, L. C. Ella Has A Secret: Rett Syndrome. Helping Books, The, 2023.

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