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Thematische Bibliographien / Angelman Syndromes / Bücher

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Bücher zum Thema „Angelman Syndromes“

Autor: Grafiati

Veröffentlicht am 4. Juni 2021

Zuletzt aktualisiert am 1. Februar 2022

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1

Group, Angelman Syndrome Support. What is Angelman Syndrome?. Waterlooville, Hants: Angelman Syndrome Support Group, 1990.

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2

Hyman, Julie. Angelman Syndrome A to Z: Everything you ever wanted to know about Angelman Syndrome ... and then some! 2. Aufl. Westmont, Ill: Angelman Syndrome Foundation, 1999.

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3

Clayton-Smith, Jill. A clinical and genetic study of Angelman syndrome. Manchester: University of Manchester, 1993.

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4

Parker, James N., und Philip M. Parker. Angelman syndrome: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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5

Publications, ICON Health. Angelman Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References. ICON Health Publications, 2003.

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6

McKinlay Gardner, R. J., und David J. Amor. Uniparental Disomy and Disorders of Imprinting. Herausgegeben von R. J. McKinlay Gardner und David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0018.

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Uniparental disomy (UPD) is a fascinating pathogenetic mechanism, albeit that it is applicable to a small but important number of conditions. This chapter discusses the basis of UPD and the different mechanisms by which it may arise. It reviews the concept of epigenetics in this setting. This chapter considers UPD as it may have been observed in all the chromosomes, in some of which it appears to be without any effect, and others in which a UPD effect is well known, including the classic UPD conditions, of which Prader-Willi and Angelman syndromes are the archetypes. The differing reproductive risks in these different syndromes are noted.

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7

Barañano, Kristin W. Angelman Syndrome. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0055.

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Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the epigenetically imprinted gene UBE3A. It is characterized by severe developmental delay, an ataxic gait disorder, an apparent happy demeanor with frequent smiling or laughing, and severe expressive language impairments. Understanding the neurobiology of AS has focused on understanding how UBE3A is regulated by neuronal activity, as well as the targets of its ubiquitin E3 ligase activity. This has led to a model of the role of UBE3A in the regulation of experience-dependent sculpting of synaptic circuits. At this time, treatment is largely supportive, but efforts directed toward reversing the epigenetic silencing machinery may lead to improved synaptic function in AS patients.

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8

Weeber, Edwin J. Angelman Syndrome. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0013.

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Angelman syndrome (AS) is a devastating neurological disorder with a symptom complex that includes but is not limited to severe developmental delay, profound cognitive disruption, motor coordination defects, increased propensity for seizure with a characteristic abnormal electroencephalogram, sleep disruption, behavioral difficulties, a lack of speech, and an overall happy demeanor. Although the disorder was first described in 1965 by British pediatrician Dr. Harry Angelman, because AS is clinically characterized by a wide constellation of symptoms with varying degrees of severity, it is not readily diagnosed by clinical presentation alone and misdiagnosis has commonly occurred.

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9

Dan, Bernard. Angelman's Syndrome. MacKeith Press, 2008.

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10

N. Calculator, Stephen, Hrsg. Angelman Syndrome: Communication, Educational and Related Considerations. BENTHAM SCIENCE PUBLISHERS, 2015. http://dx.doi.org/10.2174/97816810811681150101.

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11

Firth, Helen V., und Jane A. Hurst. Common consultations. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199557509.003.0003.

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This chapter presents some of the disorders more commonly seen in a genetics clinic from achondroplasia to autosomal dominant polycystic kidney disease, Alport syndrome, androgen insensitivity syndrome, Angelman syndrome, Beckwith–Wiedemann syndrome, congenital adrenal hyperplasia, glaucoma, haemochromatosis, hereditary spastic paraplegias, Leigh encephalopathy, Marfan’s syndrome, Noonan syndrome, and many others. It gives an explanation of the clinical approach, the history, the examination, the investigation, and the diagnosis and lists the support groups.

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12

Jolly, Elaine, Andrew Fry und Afzal Chaudhry, Hrsg. Genetics. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199230457.003.0010.

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Chapter 10 covers the basic science and clinical topics relating to genetics which trainees are required to learn as part of their basic training and demonstrate in the MRCP. It covers karyotype, mitosis, and meiosis, mechanisms of inheritance/disease transmission, mitochondrial disease, trinucleotide repeats and imprinting, investigative techniques in genetic medicine, Down syndrome, Klinefelter syndrome, Turner syndrome, neurofibromatosis, tuberous sclerosis, myotonic dystrophy, Friedreich ataxia, fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, and Ehlers-Danlos syndrome.

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13

Publications, ICON Health. The Official Parent's Sourcebook on Angelman Syndrome: A Directory for the Internet Age. Icon Health Publications, 2005.

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14

Kotagal, Suresh, und Julie M. Baughn. Childhood sleep–wake disorders. Herausgegeben von Sudhansu Chokroverty, Luigi Ferini-Strambi und Christopher Kennard. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199682003.003.0049.

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This chapter highlights the development of normal sleep from infancy to childhood. It illustrates the ways in which this development impacts common sleep disorders such as sleep disordered breathing, insomnia, restless legs syndrome (Willis–Ekbom disease), narcolepsy, parasomnias, and circadian rhythm abnormalities. The considerations needed for diagnosis of these disorders in children are discussed, including the key features of a pediatric sleep history. The chapter also focuses on sleep in special populations, including trisomy 21 (Down syndrome), autism spectrum disorder, Angelman syndrome, Prader–Willi syndrome, and achondroplasia, and on the considerations needed for each population. This chapter is designed for the sleep physician with an interest in treating children.

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15

B, Cassidy Suzanne, North Atlantic Treaty Organization. Scientific Affairs Division. und NATO Advanced Research Workshop on Prader-Willi Syndrome and Other Chromosome 15q Deletion Disorders (1991 : Noordwijkerhout, Netherlands), Hrsg. Prader-Willi syndrome and other chromosome 15q deletion disorders. Berlin: Springer-Verlag, 1992.

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16

Hsieh, David T., und Elizabeth A. Thiele. Ketogenic Diet for Other Epilepsies. Herausgegeben von Eric H. Kossoff. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190497996.003.0007.

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The ketogenic diet is the treatment of choice for epilepsy in certain disorders of brain metabolism, in particular glucose transporter protein 1 deficiency and pyruvate dehydrogenase deficiency. The International Ketogenic Diet Study Group has listed several other conditions for which the ketogenic diet has been reported as being particularly beneficial and could be offered earlier. Whether efficacy in these conditions is due in part to the broad-spectrum efficacy of the ketogenic diet or to specific mechanisms specific to these conditions is still under investigation. This chapter discusses the use of dietary therapies for the treatment of epilepsy in certain genetic disorders, including Rett syndrome and tuberous sclerosis complex, as listed by the International Ketogenic Diet Study Group, and additionally discusses the use of epilepsy dietary therapies in patients with Angelman syndrome and Sturge-Weber syndrome.

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