Relevant bibliographies by topics / Angelmanův syndrom

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Angelmanův syndrom'

Author: Grafiati
Published: 4 June 2021
Last updated: 4 February 2022

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the lists of relevant articles, books, theses, conference reports, and other scholarly sources on the topic 'Angelmanův syndrom.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Journal articles on the topic "Angelmanův syndrom"

1

Salminen, Iiro Ilmari, Bernard J. Crespi, and Mikael Mokkonen. "Baby food and bedtime: Evidence for opposite phenotypes from different genetic and epigenetic alterations in Prader-Willi and Angelman syndromes." SAGE Open Medicine 7 (January 2019): 205031211882358. http://dx.doi.org/10.1177/2050312118823585.

Full text
Abstract:
Prader–Willi and Angelman syndromes are often referred to as a sister pair of neurodevelopmental disorders, resulting from different genetic and epigenetic alterations to the same chromosomal region, 15q11-q13. Some of the primary phenotypes of the two syndromes have been suggested to be opposite to one another, but this hypothesis has yet to be tested comprehensively, and it remains unclear how opposite effects could be produced by changes to different genes in one syndrome compared to the other. We evaluated the evidence for opposite effects on sleep and eating phenotypes in Prader–Willi syndrome and Angelman syndrome, and developed physiological–genetic models that represent hypothesized causes of these differences. Sleep latency shows opposite deviations from controls in Prader–Willi and Angelman syndromes, with shorter latency in Prader–Willi syndrome by meta-analysis and longer latency in Angelman syndrome from previous studies. These differences can be accounted for by the effects of variable gene dosages of UBE3A and MAGEL2, interacting with clock genes, and leading to acceleration (in Prader–Willi syndrome) or deceleration (in Angelman syndrome) of circadian rhythms. Prader–Willi and Angelman syndromes also show evidence of opposite alterations in hyperphagic food selectivity, with more paternally biased subtypes of Angelman syndrome apparently involving increased preference for complementary foods (“baby foods”); hedonic reward from eating may also be increased in Angelman syndrome and decreased in Prader–Willi syndrome. These differences can be explained in part under a model whereby hyperphagia and food selectivity are mediated by the effects of the genes SNORD-116, UBE3A and MAGEL2, with outcomes depending upon the genotypic cause of Angelman syndrome. The diametric variation observed in sleep and eating phenotypes in Prader–Willi and Angelman syndromes is consistent with predictions from the kinship theory of imprinting, reflecting extremes of higher resource demand in Angelman syndrome and lower demand in Prader–Willi syndrome, with a special emphasis on social–attentional demands and attachment associated with bedtime, and feeding demands associated with mother-provided complementary foods compared to offspring-foraged family-type foods.
APA, Harvard, Vancouver, ISO, and other styles
2

Luk, Ho-Ming. "Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases." Case Reports in Genetics 2016 (2016): 1–6. http://dx.doi.org/10.1155/2016/9790169.

Full text
Abstract:
Epigenetic abnormalities in 15q11-13 imprinted region andUBE3Amutation are the two major mechanisms for molecularly confirmed Angelman Syndrome. However, there is 10% of clinically diagnosed Angelman Syndrome remaining test negative. With the advancement of genomic technology like array comparative genomic hybridization and next generation sequencing methods, it is found that some patients of these test negative Angelman-like Syndromes actually have alternative diagnoses. Accurate molecular diagnosis is paramount for genetic counseling and subsequent management. Despite overlapping phenotypes between Angelman and Angelman-like Syndrome, there are some subtle but distinct features which could differentiate them clinically. It would provide important clue during the diagnostic process for clinicians.
APA, Harvard, Vancouver, ISO, and other styles
3

Tsagkaris, Christos, Vasiliki Papakosta, Adriana Viola Miranda, Lefkothea Zacharopoulou, Valeriia Danilchenko, Lolita Matiashova, and Amrit Dhar. "Gene Therapy for Angelman Syndrome: Contemporary Approaches and Future Endeavors." Current Gene Therapy 19, no. 6 (April 25, 2020): 359–66. http://dx.doi.org/10.2174/1566523220666200107151025.

Full text
Abstract:
Background: Angelman Syndrome (AS) is a congenital non inherited neurodevelopmental disorder. The contemporary AS management is symptomatic and it has been accepted that gene therapy may play a key role in the treatment of AS. Objective: The purpose of this study is to summarize existing and suggested gene therapy approaches to Angelman syndrome. Methods: This is a literature review. Pubmed and Scopus databases were researched with keywords (gene therapy, Angelman’s syndrome, neurological disorders, neonates). Peer-reviewed studies that were closely related to gene therapies in Angelman syndrome and available in English, Greek, Ukrainian or Indonesian were included. Studies that were published before 2000 were excluded and did not align with the aforementioned criteria. Results: UBE3A serves multiple roles in signaling and degradation procedures. Although the restoration of UBE3A expression rather than targeting known activities of the molecule would be the optimal therapeutic goal, it is not possible so far. Reinstatement of paternal UBE3A appears as an adequate alternative. This can be achieved by administering topoisomerase-I inhibitors or reducing UBE3A antisense transcript (UBE3A-ATS), a molecule which silences paternal UBE3A. Conclusion: Understanding UBE3A imprinting unravels the path to an etiologic treatment of AS. Gene therapy models tested on mice appeared less effective than anticipated pointing out that activation of paternal UBE3A cannot counteract the existing CNS defects. On the other hand, targeting abnormal downstream cell signaling pathways has provided promising rescue effects. Perhaps, combined reinstatement of paternal UBE3A expression with abnormal signaling pathways-oriented treatment is expected to provide better therapeutic effects. However, AS gene therapy remains debatable in pharmacoeconomics and ethics context.
APA, Harvard, Vancouver, ISO, and other styles
4

Froster, Ursula, Matthias Bernhard, Annegret Kujat, Andreas Merkenschlager, and Sibylle Strenge. "Häufige Mikrodeletionssyndrome." Kinder- und Jugendmedizin 7, no. 04 (2007): 189–96. http://dx.doi.org/10.1055/s-0037-1617965.

Full text
Abstract:
ZusammenfassungAls Ursache einer großen Zahl von MCA/MR-Syndromen (multiple kongenitale Anomalien/mentale Retardierung) wurden Mikrodeletionen identifiziert. Wir veranschaulichen häufige Mikrodeletionssyndrome unter Berücksichtigung der zugrunde liegenden genetischen Faktoren, der klinischen Aspekte und diagnostischen Möglichkeiten. Patienten mit Prader-Willi-Syndrom, Angelman-Syndrom, Williams-Beuren-Syndrom sowie Patienten mit einer Mikrodeletion 22q11.2 werden vorgestellt.
APA, Harvard, Vancouver, ISO, and other styles
5

Park, Sung-Hee, Teo-Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Jung-Wook Kim, Sang-Hoon Lee, Chong-Chul Kim, and Ki-Taeg Jang. "DENTAL TREATMENT IN A PATIENT WITH ANGELMAN SYNDROME DUE TO UNIPARENTAL DISOMY." Journal of Korea Assosiation for Disability and Oral Health 12, no. 1 (June 30, 2016): 11–15. http://dx.doi.org/10.12655/kadh.2016.12.1.11.

Full text
APA, Harvard, Vancouver, ISO, and other styles
6

Cesaityte, Karina, and Danielius Serapinas. "The spectrum of microdeletian syndromes at the hospital of Lithuanian university of health sciences." Genetika 48, no. 3 (2016): 859–66. http://dx.doi.org/10.2298/gensr1603859c.

Full text
Abstract:
Microdeletion syndrome is a rare condition which can be diagnosed by fluorescent in situ hybridization (FISH) method. We analyzed microdeletion syndromes cases during ten years period (2005-2015) at The Hospital of Lithuanian University of Health Sciences. We report 2 patients with Prader-Willi syndrome, 2 patients with Smith-Magenis syndrome, 1 patient with Angelman syndrome and 1 patient with Cri du Chat syndrome. All syndromes were confirmed by FISH. These cases contain mainly data about phenotype abnormalities and clinical symptoms.
APA, Harvard, Vancouver, ISO, and other styles
7

Zhang, Melvyn W. B., Nikki Fong, Ying Hui Quek, Cyrus S. H. Ho, Beng Yeong Ng, and Roger C. M. Ho. "Microdeletion syndromes and psychiatry: An update." BJPsych Advances 23, no. 3 (May 2017): 149–57. http://dx.doi.org/10.1192/apt.bp.114.012864.

Full text
Abstract:
SummaryMicrodeletion syndrome is an important topic in intellectual disability, associated with various psychiatric symptoms, such as autism, attention deficit, hyperactivity, obsession and compulsion, and psychosis. In this article, we provide a clinical update on the following syndromes and their associated psychiatric disorders: Prader–Willi syndrome, Angelman syndrome, Williams syndrome, Wolf–Hirschhorn syndrome, cri du chat syndrome, DiGeorge syndrome and Rubinstein–Taybi syndrome.Learning Objectives• Gain an up-to-date understanding of the microdeletion syndromes commonly seen in daily practice• Appreciate the association between underlying chromosomal abnormalities and the resultant intellectual disabilities in microdeletion syndromes• Gain up-to-date knowledge about the treatment options for the various microdeletion syndromes commonly seen in daily practice
APA, Harvard, Vancouver, ISO, and other styles
8

Scheffer, I., E. M. Brett, J. Wilson, and M. Baraitser. "Angelman's syndrome." Journal of Medical Genetics 27, no. 4 (April 1, 1990): 275–77. http://dx.doi.org/10.1136/jmg.27.4.275-a.

Full text
APA, Harvard, Vancouver, ISO, and other styles
9

Clayton-Smith, J. "Angelman's syndrome." Archives of Disease in Childhood 67, no. 7 (July 1, 1992): 889–90. http://dx.doi.org/10.1136/adc.67.7.889.

Full text
APA, Harvard, Vancouver, ISO, and other styles
10

MCKINLAY, I. A. "Angelman's Syndrome." Developmental Medicine & Child Neurology 24, no. 2 (November 12, 2008): 198. http://dx.doi.org/10.1111/j.1469-8749.1982.tb08803.x.

Full text
APA, Harvard, Vancouver, ISO, and other styles
More sources

Dissertations / Theses on the topic "Angelmanův syndrom"

1

Adams, Dawn M. "Laughing and smiling in angelman syndrome." Thesis, University of Southampton, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.505819.

Full text
APA, Harvard, Vancouver, ISO, and other styles
2

Hatt, Allyson Lesly. "Angelman's syndrome case study and appropriate educational curriculum." Lynchburg, Va. : Liberty University, 1988. http://digitalcommons.liberty.edu.

Full text
APA, Harvard, Vancouver, ISO, and other styles
3

Heald, Mary Elizabeth. "Refining the behavioural phenotype of Angelman syndrome." Thesis, University of Birmingham, 2014. http://etheses.bham.ac.uk//id/eprint/5130/.

Full text
Abstract:
Angelman syndrome is associated with distinctive behavioural characteristics including frequent laughing and smiling, heightened motivation for adult attention, sensory seeking, aggression and impaired learning. The main aim of this thesis was to refine and extend description of the behavioural characteristics of Angelman syndrome, including sensory processing and sociability, in order to establish the principles of intervention to increase the speed of acquisition and lower levels of ‘challenging behaviours’, with a focus on excessive social approach. A longitudinal study highlighted limited change in behaviours characteristic of Angelman syndrome over an eight year period, both in children and adults. Further examination of specific behavioural characteristics refined the behavioural phenotype of Angelman syndrome, highlighting elevated levels of seeking sensory stimuli, and differences in social behaviour across genetic subtypes of Angelman syndrome. Direct observations demonstrated the successful use of these preferred sensory and social experiences as rewards that increased the rate of acquisition of target behaviours. Direct observations identified a subset of children for whom social interaction was extremely rewarding. A proof of principle intervention for children displaying heightened sociability successfully reduced the frequency of ‘excessive’ social approaches in the presence of a discriminative stimulus. The results from the thesis refine the knowledge of the behavioural phenotype of Angelman syndrome, and have important implications for future behavioural interventions within this population.
APA, Harvard, Vancouver, ISO, and other styles
4

MALZAC, PERRINE. "Le syndrome d'angelman : etude clinique, cytogenetique et moleculaire." Aix-Marseille 2, 1992. http://www.theses.fr/1992AIX20909.

Full text
APA, Harvard, Vancouver, ISO, and other styles
5

Mandel-Brehm, Caleigh. "A Behavioral and Molecular Approach for Understanding Angelman Syndrome." Thesis, Harvard University, 2016. http://nrs.harvard.edu/urn-3:HUL.InstRepos:26718736.

Full text
Abstract:
Autism Spectrum Disorder (ASD) is a set of human developmental disorders that affects ~1 in 68 children. The clinical features of ASD include deficits in social behavior and frequent co-morbidity of motor, emotional and sensory impairment. Currently, there are no effective treatments. A major obstacle for treating ASD is the limited knowledge of the neuronal circuits that drive these complex behaviors. Several monogenic, or single-gene, disorders that possess similar features to ASD have been identified, implicating a role for molecular pathways in the development of these behavioral circuits. This dissertation focuses on Angelman Syndrome (AS), a neurodevelopmental disorder characterized by social communication deficits, movement disorder and hyper-excitable behavioral traits. The phenotype of AS arises from mutation of the UBE3A gene, encoding an E3 ubiquitin ligase. The overarching goal of this study is to understand how deregulation of UBE3A-dependent pathways contribute to the behavioral phenotype of AS. Neuronal substrates of UBE3A have been identified and their expression has been shown to be up-regulated in AS neurons. I now test the hypothesis that this deregulation contributes to specific pathology of AS. First, I described clinically relevant behavioral phenotypes in an AS mouse model. Next, I genetically reduced the expression level of two UBE3A substrates, ARC (Activity-Regulated Cytoskeleton-Associated Protein) and EPHEXIN5 (Rho Guanine Nucleotide Exchange Factor 15) in the AS mouse and assayed for reversal of behavioral abnormalities. I find that the AS mouse model has impaired communication and motor behavior during early postnatal development, enhanced seizure-like activity and an abnormal cortical electroencephalogram (EEG). Reducing the levels of ARC reversed the enhanced seizure-like activity and EEG, but not the communication or motor deficits. The specific rescue of seizure-like activity by reducing ARC, but not EPHEXIN5, reveals a role for molecular diversity in the development of behavioral circuits. Further, these findings suggest that therapeutic interventions that reduce the level of ARC expression have the potential to reverse the seizures associated with AS. Lastly, the identification of aberrant behaviors in AS mice provides clues regarding the neural circuit defects that occur in AS and ultimately allow new approaches for treating this disorder, and broader ASDs.
Medical Sciences
APA, Harvard, Vancouver, ISO, and other styles
6

Handley, Louise. "Movement disorders and catatonia-like presentations in rare genetic syndromes." Thesis, University of Manchester, 2016. https://www.research.manchester.ac.uk/portal/en/theses/movement-disorders-and-catatonialike-presentations-in-rare-genetic-syndromes(581c9b5a-0681-4a14-8b49-35fecded2f55).html.

Full text
Abstract:
The prevalence of Autism Spectrum Disorder (ASD) and its defining features has been increasingly investigated in genetic syndromes associated with intellectual disability, with syndrome specific profiles reported. The experience of catatonia and other movement disorders in people with ASD has been increasing highlighted within both research and diagnostic guidelines. However, these issues have not typically been investigated alongside other features of ASD within research into genetic syndromes. The first paper in this thesis provides a review of the literature on movement disorders in genetic syndromes associated with ASD, which focuses on the prevalence of reported movement disorders, the methods of assessment used, and the quality of research to date. An empirical study is reported in Paper 2. Within a cohort of individuals with Cornelia de Lange and Fragile X syndromes the prevalence of attenuated behaviour [autistic catatonia] is examined, based on parent/carer report, and the extent to which features of ASD predict later attenuated behaviour is investigated. Paper 3 provides a critical reflection on the first two papers as well as some wider considerations on undertaking research in this area. The results of both the literature review and the empirical study indicated that across a number of genetic syndromes (Angelman syndrome, Cornelia de Lange syndrome, Fragile X syndrome and Rett syndrome) attenuated behaviour [autistic catatonia] and/or movement disorders affect a substantial proportion of individuals. Furthermore, repetitive behaviours, one of the characteristic features of ASD, appear to predict later attenuated behaviour in Cornelia de Lange and Fragile X syndromesThe results presented in this thesis have important implications for the way services support individuals with specific genetic syndromes. Paper 1 confirms the high prevalence of movement problems in Angelman and Rett syndromes, and Paper 2 provides a new insight into movement problems in Cornelia de Lange and Fragile X syndromes. Movement disorders are reported to impact negatively on wellbeing and quality of life in people with ASD, and are likely to have a similar impact on the lives of people with genetic syndromes. Greater awareness and recognition of movement problems in CdLS and FXS is required, and although specialist services may already be aware of some of the above issues, there should be an increased emphasis on ensuring that community services are aware of the needs of individuals with genetic syndromes, including the implications of movement problems for support needs and quality of life.
APA, Harvard, Vancouver, ISO, and other styles
7

Robinett, Sheldon J. (Sheldon Jay). "Genomic imprinting: support for the concept from a study of Prader-Willi Syndrome patients." Thesis, University of North Texas, 1994. https://digital.library.unt.edu/ark:/67531/metadc332745/.

Full text
Abstract:
In this study, nineteen cases of suspected or clinically diagnosed Prader-Willi Syndrome (PWS) were tested for molecular deletions by in situ hybridization with two DNA probes, IR4-3R and GABRB3. Both probes are specific for sequences within the chromosome region 15q11-13, with IR4-3R located within the putative PWS region and GABRB3 in the distal area associated with Angelman Syndrome.
APA, Harvard, Vancouver, ISO, and other styles
8

Filonova, Irina. "Ube3a Role in Synaptic Plasticity and Neurodevelopmental Disorders.The Lessons from Angelman Syndrome." Scholar Commons, 2014. https://scholarcommons.usf.edu/etd/5015.

Full text
Abstract:
Angelman Syndrome (AS) is a severe neurodevelopmental disorder that affects 1:12000 newborns. It is characterized by mental retardation, delayed major motor and cognitive milestones, seizures, absence of speech and excessive laughter. The majority of AS cases arise from deletions or mutations of UBE3A gene located on the chromosome 15q11-13. UBE3A codes for E3-ubiquitin ligase that target specific proteins for degradation. To date, a wide variety of Ube3a substrates has been identified. The accumulation of Ube3a-dependent proteins and their effect on the multitude of signal transduction pathways are` considered the main cause of the AS pathology. While the majority of research has been directed towards target identifications, the overall role of Ube3a in activity-dependent synaptic plasticity has been greatly overlooked. The present work is designed to fill some of these knowledge gaps. Chapter 2 is focused on the activity-dependent aspect of Ube3a expression following neuronal stimulation in vivo and in vitro. We examined total Ube3a expression followed by KCl depolarization in neuronal primary culture. By utilizing a subcellular fractionation technique, we were able to determine which cellular pools are responsive to the depolarization. Next, a fear conditioning paradigm (FC) was used to activate neurons in the paternal Ube3a-YFP reporter mouse brain. This mouse model allowed us to resolve spatial and temporal alterations of the maternal and the paternal Ube3a in hippocampus and cortex followed by FC. In accordance to KCl depolarization results, we observed alterations in Ube3a protein but at later time points. Furthermore, we investigated if the absence of activity-dependent Ube3a changes has any effect on learning and memory kinase activation. We utilized KCl and FC to determine synaptic activity-induced ERK 1/2 phosphorylation in acute hippocampal slices and in CA1 area of hippocampus of wild type (Ube3a m+/p+) and Ube3a deficient mice (Ube3a m-/p+). We demonstrated that Ube3a loss leads to impaired activity-dependent ERK 1/2 phosphorylation. It has been established that Ube3a m-/p+ mice have a profound deficit in LTP, implying the importance of this ligase in excitatory synaptic transmission. The abnormal LTP could be partially explained by an aberrant CaMKII function, decreased activity-dependent ERK 1/2 phosphorylation and reduced phosphatase activity. These proteins have also been implicated in another form of synaptic plasticity such as long-term depression (LTD). Chapter 3, we investigated the contribution of Ube3a to NMDAR - dependent and - independent LTD. Our data showed that Ube3a m-/p+ P21-30 animals exhibit the impairments in both forms of LTD. Next, we focused on elucidating molecular mechanism underlying the reduced mGluR1/5-LTD. We discovered that mGluR1/5 kinase activation such as ERK, mTOR and p38 is not affected by Ube3a loss. In concordance with previous work, we detected increased Arc expression together with abnormal AMPAR distribution in the Ube3a m-/p+ hippocampus. Surprisingly, the mGluR1/5 induced GluR2 trafficking was normal. Our findings infer that elevated Arc levels together with the increased internalization of AMPAR may result in compromised basal state of the synapses leading to a more depression-like state in Ube3a m-/p+ mice. Evidence points that loss of Ube3a produces alterations in a variety of activity-dependent signal transduction cascades that may ultimately result in impaired synaptic plasticity and cognition. Similar to AS, abnormal molecular and behavioral phenotypes have already been observed in other mouse models of human mental retardation such as Fragile X Mental Retardation Syndrome (FXS). Chapter 4 is set to explore if any correlation can be found in between these neurodevelopmental disorders. Analysis of crude synaptoneurosomes of adult Fmr1 KO mice revealed a significant reduction in Ube3a protein. Additionally, a blunted translation of Ube3a in response to mGluR1/5 stimulation was observed. However, we didn't find any evidence of direct interaction between Ube3a mRNA and Fragile X Mental Retardation Protein (FMRP). To examine if some of the pathology seen in Fmr1 KO mice is due to Ube3a downregulation, we performed a rescue experiment by increasing overall levels of Ube3a in hippocampus of FRMP deficient mice. An exhaustive battery of behavioral testing indicated that alterations of Ube3a expression impacted only associative fear conditioning. In summary, the present work has attempted to answer some of the fundamental questions about Ube3a and its role in synaptic plasticity. We have demonstrated that Ube3a expression is modulated by synaptic activation and its activity-dependent alterations are essential for normal brain functioning. Additionally, our data suggest that Ube3a is not only significant for the synaptic excitation but also crucial for the synaptic depression. Finally, our findings indicate that the alteration of Ube3a expression may contribute to the cognitive phenotypes in other neurodevelopmental disorders such as FXS suggesting an advantage of exploring Ube3a function outside the AS research.
APA, Harvard, Vancouver, ISO, and other styles
9

Kokkonen, H. (Hannaleena). "Genetic changes of chromosome region 15q11-q13 in Prader-Willi and Angelman syndromes in Finland." Doctoral thesis, University of Oulu, 2003. http://urn.fi/urn:isbn:9514270274.

Full text
Abstract:
Abstract The Prader-Willi (PWS) and Angelman (AS) syndromes are clinically distinct developmental disorders which are caused by genetic defects in the imprinted domain at chromosome 15q11-q13, resulting in the loss of paternal (PWS) or maternal (AS) gene function. In this study, the genetic changes of 15q11-q13 and their possible inheritance in Finnish PWS (n=76) and AS (n=47) patients are described. The diagnosis could be confirmed by laboratory methods in all PWS and in 43 (91%) AS patients. A deletion of 15q11-q13 accounted for 76% of the PWS and 67% of the AS patients in whom a specific genetic defect had been established. The origin of deletion was always paternal in PWS and maternal in AS. In PWS, deletions of four different sizes were detected, while in AS only type I or II deletions were found. The smallest overlap of deletions/critical region detected was from locus D15S13 to locus D15S10 in PWS and from locus D15S128 to locus D15S12 in AS. A rare recurrence of del(15)(q11q13) due to maternal germ line mosaicism is described. Maternal uniparental disomy of chromosome 15 accounted for 21% of PWS patients and paternal UPD for 2% of AS patients. In PWS, most UPD cases were due to errors in maternal meiosis (87%), most commonly leading to maternal heterodisomy (MI error). In AS, a rare error in the second segregation of paternal meiosis was found. UPD was associated with advanced maternal age, the mean being 34.6 years. Imprinting defects were found in 3% of PWS (two non-IC-deletions) and 11% of AS (IC deletion in one sib pair and three non-IC-deletions) patients. In the case with IC deletion, the mutation was seen in several generations. The non-deletion cases were thought to be due to a de novo prezygotic or postzygotic error. In the non-deletion PWS cases, the maternally imprinted paternal chromosome region was shown to have been inherited from the paternal grandmother, while in AS the paternally imprinted maternal chromosome region had been inherited from either the maternal grandfather or the maternal grandmother. The region of IC involved in AS was defined to be 1.15 kb. Five (11%) AS patients with normal DNA methylation test results had a UBE3A mutation. One of the two novel missense mutations (902A→C) had been inherited from the mosaic mother, while the mutation 975T→C was a new one. De novo deletions 1930delAG and 3093delAAGA have also been described previously, suggesting that these sites may be mutation hotspots in UBE3A. Identification of different genetic aetiologies with different recurrence risks is essential for genetic counselling, and close co-operation between clinicians and the laboratory is required both for diagnosis and for the detection of possible inheritance.
APA, Harvard, Vancouver, ISO, and other styles
10

CHARVET, FRANCOIS. "Contribution a l'etude du syndrome d'angelman : a propos d'une observation." Aix-Marseille 2, 1989. http://www.theses.fr/1989AIX20025.

Full text
APA, Harvard, Vancouver, ISO, and other styles
More sources

Books on the topic "Angelmanův syndrom"

1

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

Find full text
APA, Harvard, Vancouver, ISO, and other styles
2

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

Find full text
APA, Harvard, Vancouver, ISO, and other styles
3

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

Find full text
APA, Harvard, Vancouver, ISO, and other styles
4

Parker, James N., and 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.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
5

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

Find full text
APA, Harvard, Vancouver, ISO, and other styles
6

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

Full text
Abstract:
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.
APA, Harvard, Vancouver, ISO, and other styles
7

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

Full text
Abstract:
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.
APA, Harvard, Vancouver, ISO, and other styles
8

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

Full text
APA, Harvard, Vancouver, ISO, and other styles
9

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

Find full text
APA, Harvard, Vancouver, ISO, and other styles
10

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

Find full text
APA, Harvard, Vancouver, ISO, and other styles
More sources

Book chapters on the topic "Angelmanův syndrom"

1

Vagts, Dierk A., Uta Emmig, Heike Kaltofen, and Peter Biro. "Angelman-Syndrom." In Anästhesie bei seltenen Erkrankungen, 1–2. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-662-44368-2_5-1.

Full text
APA, Harvard, Vancouver, ISO, and other styles
2

Gilbert, Patricia. "Angelman’s syndrome." In The A-Z Reference Book of Syndromes and Inherited Disorders, 30–32. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-6918-7_7.

Full text
APA, Harvard, Vancouver, ISO, and other styles
3

Nelson, Samantha M., and Maria G. Valdovinos. "Angelman Syndrome." In Encyclopedia of Child Behavior and Development, 96–101. Boston, MA: Springer US, 2011. http://dx.doi.org/10.1007/978-0-387-79061-9_136.

Full text
APA, Harvard, Vancouver, ISO, and other styles
4

Williams, Charles A., and Aditi Dagli. "Angelman Syndrome." In Management of Genetic Syndromes, 69–80. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2010. http://dx.doi.org/10.1002/9780470893159.ch6.

Full text
APA, Harvard, Vancouver, ISO, and other styles
5

Morris, Richard J., and Yvonne P. Morris. "Angelman syndrome." In Health-related disorders in children and adolescents: A guidebook for understanding and educating., 50–55. Washington: American Psychological Association, 1998. http://dx.doi.org/10.1037/10300-007.

Full text
APA, Harvard, Vancouver, ISO, and other styles
6

Scharnagl, Hubert, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, et al. "Angelman Syndrome." In Encyclopedia of Molecular Mechanisms of Disease, 89. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_107.

Full text
APA, Harvard, Vancouver, ISO, and other styles
7

Chen, Harold. "Angelman Syndrome." In Atlas of Genetic Diagnosis and Counseling, 139–50. New York, NY: Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_13.

Full text
APA, Harvard, Vancouver, ISO, and other styles
8

Smith, Kristen, and Bonita P. “Bonnie” Klein-Tasman. "Angelman Syndrome." In Encyclopedia of Clinical Neuropsychology, 232–36. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-57111-9_1510.

Full text
APA, Harvard, Vancouver, ISO, and other styles
9

Chen, Harold. "Angelman Syndrome." In Atlas of Genetic Diagnosis and Counseling, 1–11. New York, NY: Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4614-6430-3_13-2.

Full text
APA, Harvard, Vancouver, ISO, and other styles
10

Phillips, Kristin D., and Bonita P. Klein-Tasman. "Angelman Syndrome." In Encyclopedia of Clinical Neuropsychology, 165–68. New York, NY: Springer New York, 2011. http://dx.doi.org/10.1007/978-0-387-79948-3_1510.

Full text
APA, Harvard, Vancouver, ISO, and other styles

Conference papers on the topic "Angelmanův syndrom"

1

FILHO, F. T. M., F. D. P. SOUZA, and I. B. S. FILHO. "NDD. 08. Angelman syndrome: a bibliographic review." In I International Symposium in Neuroscience Meeting. Editora Edgard Blücher, 2014. http://dx.doi.org/10.5151/isnm-sine32.

Full text
APA, Harvard, Vancouver, ISO, and other styles
2

Meng, Linyan, Amanda J. Ward, C. Frank Bennett, Arthur Beaudet, and Frank Rigo. "Abstract IA28: Towards a therapy for Angelman syndrome by targeting a long noncoding RNA to active UBE3A." In Abstracts: AACR Special Conference on Noncoding RNAs and Cancer: Mechanisms to Medicines; December 4-7, 2015; Boston, MA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.nonrna15-ia28.

Full text
APA, Harvard, Vancouver, ISO, and other styles
You might also be interested in the extended bibliographies on the topic 'Angelmanův syndrom' for particular source types:
Journal articles Dissertations / Theses Books
We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!

To the bibliography