Page last updated: 2024-08-11 10:32:56
Happy Puppet Syndrome
Synonyms(2)
| Synonym |
|---|
| Happy Puppet Syndrome |
| Puppet Children |
Research
Studies (172)
| Timeframe | Studies, This Condition (%) | All Conditions % |
|---|
| pre-1990 | 0 (0.00) | 23.3326 |
| 1990's | 36 (20.93) | 12.5806 |
| 2000's | 49 (28.49) | 18.1394 |
| 2010's | 54 (31.40) | 28.8240 |
| 2020's | 22 (12.79) | 9.53 |
Subcellular organization of UBE3A in human cerebral cortex.Molecular autism, , Volume: 9, 2018
Taurine Administration Recovers Motor and Learning Deficits in an Angelman Syndrome Mouse Model.International journal of molecular sciences, , Apr-05, Volume: 19, Issue:4, 2018
Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome.Science translational medicine, , Dec-05, Volume: 4, Issue:163, 2012
Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex.Neuroscience letters, , Oct-15, Volume: 483, Issue:3, 2010
Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome.Neurobiology of disease, , Volume: 39, Issue:3, 2010
Mutations affecting GABAergic signaling in seizures and epilepsy.Pflugers Archiv : European journal of physiology, , Volume: 460, Issue:2, 2010
Angelman syndrome: current understanding and research prospects.Epilepsia, , Volume: 50, Issue:11, 2009
[Angelman syndrome--diagnosis and therapy of genomic imprinting disorders].No to hattatsu = Brain and development, , Volume: 41, Issue:3, 2009
Aberrant somatosensory-evoked responses imply GABAergic dysfunction in Angelman syndrome.NeuroImage, , Jan-15, Volume: 39, Issue:2, 2008
[Autism, chromosome 15 and the GAbaergic dysfunction hypothesis].Investigacion clinica, , Volume: 48, Issue:4, 2007
Lamotrigine effect on GABA transmission in Angelman syndrome?Epilepsia, , Volume: 48, Issue:8, 2007
GABAA receptor beta3 subunit gene-deficient heterozygous mice show parent-of-origin and gender-related differences in beta3 subunit levels, EEG, and behavior.Brain research. Developmental brain research, , Jun-30, Volume: 157, Issue:2, 2005
Angelman syndrome as a rare anaesthetic problem.Paediatric anaesthesia, , Volume: 14, Issue:3, 2004
Peripheral markers of the gamma-aminobutyric acid (GABA)ergic system in Angelman's syndrome.Journal of child neurology, , Volume: 18, Issue:1, 2003
GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man.Epilepsy research, , Volume: 36, Issue:2-3, 1999
Adverse effects of vigabatrin in Angelman syndrome.Epilepsia, , Volume: 39, Issue:11, 1998
Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome.The Journal of neuropsychiatry and clinical neurosciences, ,Winter, Volume: 9, Issue:1, 1997
Psychiatry needs a basic science titled sociophysiology.Biological psychiatry, , May-15, Volume: 39, Issue:10, 1996
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.Orphanet journal of rare diseases, , 10-22, Volume: 14, Issue:1, 2019
A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome.Molecular biology reports, , Volume: 43, Issue:11, 2016
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.American journal of medical genetics. Part A, , Volume: 152A, Issue:8, 2010
DNA methylation in mammalian development and disease.Birth defects research. Part C, Embryo today : reviews, , Volume: 75, Issue:2, 2005
An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC.Human mutation, , Volume: 20, Issue:4, 2002
In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit.Human molecular genetics, , Volume: 8, Issue:4, 1999
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.Human molecular genetics, , Volume: 6, Issue:3, 1997
Angelman syndrome and melatonin: What can they teach us about sleep regulation.Journal of pineal research, , Volume: 69, Issue:4, 2020
Characterization of sleep habits and medication outcomes for sleep disturbance in children and adults with Angelman syndrome.American journal of medical genetics. Part A, , Volume: 182, Issue:8, 2020
Interventions to improve sleep for individuals with Angelman syndrome: A systematic review.Research in developmental disabilities, , Volume: 97, 2020
Treatment strategies for complex behavioral insomnia in children with neurodevelopmental disorders.Current opinion in pulmonary medicine, , Volume: 19, Issue:6, 2013
Melatonin profile and its relation to circadian rhythm sleep disorders in Angelman syndrome patients.Sleep medicine, , Volume: 13, Issue:9, 2012
Exogenous melatonin for sleep problems in individuals with intellectual disability: a meta-analysis.Developmental medicine and child neurology, , Volume: 51, Issue:5, 2009
Melatonin for chronic insomnia in Angelman syndrome: a randomized placebo-controlled trial.Journal of child neurology, , Volume: 23, Issue:6, 2008
Effects of a low dose of melatonin on sleep in children with Angelman syndrome.Journal of pediatric endocrinology & metabolism : JPEM, , Volume: 12, Issue:1
Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies.Human reproduction (Oxford, England), , Volume: 27, Issue:8, 2012
A ligation assay for multiplex analysis of CpG methylation using bisulfite-treated DNA.Nucleic acids research, , Volume: 35, Issue:21, 2007
Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA.Molecular and cellular probes, , Volume: 21, Issue:3, 2007
Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome.Clinical chemistry, , Volume: 52, Issue:6, 2006
Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences.Nucleic acids research, , Aug-16, Volume: 33, Issue:14, 2005
An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC.Human mutation, , Volume: 20, Issue:4, 2002
In-tube DNA methylation profiling by fluorescence melting curve analysis.Clinical chemistry, , Volume: 47, Issue:7, 2001
Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes.Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology, , Volume: 5, Issue:3, 2000
The feasibility of PCR-based diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite modification of genomic DNA.Molecular genetics and metabolism, , Volume: 69, Issue:1, 2000
Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method.American journal of medical genetics, , Dec-19, Volume: 73, Issue:3, 1997
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.Human molecular genetics, , Volume: 6, Issue:3, 1997
A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.European journal of human genetics : EJHG, , Volume: 5, Issue:2
Therapeutic approach to neurological manifestations of Angelman syndrome.Expert review of clinical pharmacology, , Volume: 15, Issue:7, 2022
[Epilepsy in Angelman syndrome].Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova, , Volume: 122, Issue:7, 2022
Epilepsy in Angelman syndrome: A scoping review.Brain & development, , Volume: 43, Issue:1, 2021
Rescue of altered HDAC activity recovers behavioural abnormalities in a mouse model of Angelman syndrome.Neurobiology of disease, , Volume: 105, 2017
Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.Epilepsia, , Volume: 50, Issue:11, 2009
Epilepsy in Angelman syndrome.Seizure, , Volume: 17, Issue:3, 2008
A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders.Brain & development, , Volume: 25, Issue:4, 2003
Mild generalized epilepsy and developmental disorder associated with large inv dup(15).Epilepsia, , Volume: 43, Issue:9, 2002
Precocious puberty in a case with probable Angelman syndrome.Brain & development, , Volume: 16, Issue:3
[Coincidence of Graves' disease and Angelman syndrome in a 13 month old boy].Klinische Padiatrie, , Volume: 220, Issue:1
[Epilepsy in Angelman syndrome].Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova, , Volume: 122, Issue:7, 2022
Pharmacologic evidence for abnormal thalamocortical functioning in GABA receptor beta3 subunit-deficient mice, a model of Angelman syndrome.Epilepsia, , Volume: 46, Issue:12, 2005
High-dose ethosuximide for epilepsy in Angelman syndrome: implication of GABA(A) receptor subunit.Neurology, , Oct-23, Volume: 57, Issue:8, 2001
The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome.Neurology, , 02-16, Volume: 96, Issue:7, 2021
Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, , Volume: 18, Issue:3, 2021
Upcoming market catalysts in Q3 2020.Nature reviews. Drug discovery, , Volume: 19, Issue:7, 2020
Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome.Science translational medicine, , Dec-05, Volume: 4, Issue:163, 2012
Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.Epilepsia, , Volume: 50, Issue:11, 2009
Lamotrigine effect on GABA transmission in Angelman syndrome?Epilepsia, , Volume: 48, Issue:8, 2007
Lamotrigine therapy of epilepsy with Angelman's syndrome.Epilepsia, , Volume: 48, Issue:3, 2007
Mild generalized epilepsy and developmental disorder associated with large inv dup(15).Epilepsia, , Volume: 43, Issue:9, 2002
Levetiracetam in nonconvulsive status epilepticus in a child with Angelman syndrome.Journal of child neurology, , Volume: 25, Issue:3, 2010
Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.Epilepsia, , Volume: 50, Issue:11, 2009
Cortical myoclonus in Angelman syndrome.Annals of neurology, , Volume: 40, Issue:1, 1996
Are children with Angelman syndrome at high risk for anesthetic complications?Paediatric anaesthesia, , Volume: 22, Issue:3, 2012
[Anesthetic management of a child with Angelman's syndrome].Masui. The Japanese journal of anesthesiology, , Volume: 59, Issue:4, 2010
[Anesthesia in a patient with Angelman syndrome].Revista espanola de anestesiologia y reanimacion, , Volume: 54, Issue:9, 2007
Anesthetic management in a child with Angelman syndrome.Paediatric anaesthesia, , Volume: 20, Issue:7, 2010
[Anesthetic management of a child with Angelman's syndrome].Masui. The Japanese journal of anesthesiology, , Volume: 59, Issue:4, 2010
[General anesthesia in a patient with Angelman syndrome].Revista espanola de anestesiologia y reanimacion, , Volume: 57, Issue:2, 2010
Vagal hypertonia and anesthesia in Angelman syndrome.Paediatric anaesthesia, , Volume: 18, Issue:4, 2008
[Anesthesia in a patient with Angelman syndrome].Revista espanola de anestesiologia y reanimacion, , Volume: 54, Issue:9, 2007
Gene Therapy for Angelman Syndrome: Contemporary Approaches and Future Endeavors.Current gene therapy, , Volume: 19, Issue:6, 2020
A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Molecular autism, , Volume: 9, 2018
A randomized controlled trial of levodopa in patients with Angelman syndrome.American journal of medical genetics. Part A, , Volume: 176, Issue:5, 2018
Pharmacological therapies for Angelman syndrome.Wiener medizinische Wochenschrift (1946), , Volume: 167, Issue:9-10, 2017
Levodopa responsive Parkinsonism in adults with Angelman Syndrome.Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, , Volume: 8, Issue:5, 2001
The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome.Neurology, , 02-16, Volume: 96, Issue:7, 2021
Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, , Volume: 18, Issue:3, 2021
Upcoming market catalysts in Q3 2020.Nature reviews. Drug discovery, , Volume: 19, Issue:7, 2020
Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome.Science translational medicine, , Dec-05, Volume: 4, Issue:163, 2012
R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation.Proceedings of the National Academy of Sciences of the United States of America, , Aug-20, Volume: 110, Issue:34, 2013
Silenced genes turned on to treat Angelman's syndrome.Lab animal, , Jan-20, Volume: 41, Issue:2, 2012
Neurodevelopmental disorders. New hope for a devastating neurological disorder.Science (New York, N.Y.), , Dec-23, Volume: 334, Issue:6063, 2011
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons.Nature, , Dec-21, Volume: 481, Issue:7380, 2011
[A new Topo to targeted management of Angelman syndrome?].Medecine sciences : M/S, , Volume: 28, Issue:6-7
Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies.Human reproduction (Oxford, England), , Volume: 27, Issue:8, 2012
Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA.Molecular and cellular probes, , Volume: 21, Issue:3, 2007
Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome.Clinical chemistry, , Volume: 52, Issue:6, 2006
An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC.Human mutation, , Volume: 20, Issue:4, 2002
In-tube DNA methylation profiling by fluorescence melting curve analysis.Clinical chemistry, , Volume: 47, Issue:7, 2001
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.Human molecular genetics, , Volume: 6, Issue:3, 1997
Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.Annals of laboratory medicine, , Jan-01, Volume: 42, Issue:1, 2022
Structural insight into recognition of methylated histone tails by retinoblastoma-binding protein 1.The Journal of biological chemistry, , Mar-09, Volume: 287, Issue:11, 2012
[Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome].Zhonghua yi xue za zhi, , Dec-16, Volume: 88, Issue:46, 2008
A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1-q14.American journal of medical genetics. Part A, , Aug-01, Volume: 140, Issue:15, 2006
In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit.Human molecular genetics, , Volume: 8, Issue:4, 1999
The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion.Human molecular genetics, , Volume: 8, Issue:2, 1999
Diagnostic testing: a cost analysis for Prader-Willi and Angelman syndromes.American journal of human genetics, , Volume: 60, Issue:1, 1997
FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes.American journal of medical genetics, , Mar-29, Volume: 62, Issue:3, 1996
Angelman syndrome in an inbred family.Human genetics, , Volume: 97, Issue:3, 1996
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.Proceedings of the National Academy of Sciences of the United States of America, , Jul-23, Volume: 93, Issue:15, 1996
PW71 methylation test for Prader-Willi and Angelman syndromes.American journal of medical genetics, , Jan-11, Volume: 61, Issue:2, 1996
DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region.American journal of medical genetics, , Jan-11, Volume: 61, Issue:2, 1996
Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?American journal of human genetics, , Volume: 58, Issue:4, 1996
Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).Human genetics, , Volume: 97, Issue:6, 1996
Homologous association of oppositely imprinted chromosomal domains.Science (New York, N.Y.), , May-03, Volume: 272, Issue:5262, 1996
Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.American journal of human genetics, , Volume: 58, Issue:2, 1996
DNA methylation pattern in Angelman syndrome.Folia medica, , Volume: 37, Issue:4A Suppl, 1995
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.Nature genetics, , Volume: 9, Issue:4, 1995
Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype.American journal of medical genetics, , Apr-10, Volume: 56, Issue:3, 1995
DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).Human genetics, , Volume: 95, Issue:5, 1995
Parental genomic imprinting.Current opinion in pediatrics, , Volume: 7, Issue:4, 1995
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.American journal of human genetics, , Volume: 54, Issue:5, 1994
Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.Journal of medical genetics, , Volume: 30, Issue:9, 1993
Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.American journal of medical genetics, , Oct-01, Volume: 47, Issue:5, 1993
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.Human molecular genetics, , Volume: 2, Issue:9, 1993
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.Human genetics, , Volume: 90, Issue:3, 1992
MECP2 DUPLICATION SYNDROME WITH ADDITIONAL FINDINGS.Genetic counseling (Geneva, Switzerland), , Volume: 27, Issue:4
[Epilepsy in Angelman syndrome].Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova, , Volume: 122, Issue:7, 2022
Levetiracetam in nonconvulsive status epilepticus in a child with Angelman syndrome.Journal of child neurology, , Volume: 25, Issue:3, 2010
Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.Epilepsia, , Volume: 50, Issue:11, 2009
A ligation assay for multiplex analysis of CpG methylation using bisulfite-treated DNA.Nucleic acids research, , Volume: 35, Issue:21, 2007
Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes.Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology, , Volume: 5, Issue:3, 2000
Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method.American journal of medical genetics, , Dec-19, Volume: 73, Issue:3, 1997
A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.European journal of human genetics : EJHG, , Volume: 5, Issue:2
Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome.The Journal of clinical investigation, , Volume: 122, Issue:12, 2012
[Anesthetic management of a child with Angelman's syndrome].Masui. The Japanese journal of anesthesiology, , Volume: 59, Issue:4, 2010
[Angelman syndrome and severe vagal hypertonia. Three pediatric case reports].Archives des maladies du coeur et des vaisseaux, , Volume: 93, Issue:5, 2000
Quantitative EEG Analysis in Angelman Syndrome: Candidate Method for Assessing Therapeutics.Clinical EEG and neuroscience, , Volume: 54, Issue:2, 2023
Gene Therapy for Angelman Syndrome: Contemporary Approaches and Future Endeavors.Current gene therapy, , Volume: 19, Issue:6, 2020
A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Molecular autism, , Volume: 9, 2018
A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE study).Orphanet journal of rare diseases, , 08-20, Volume: 13, Issue:1, 2018
Pharmacological therapies for Angelman syndrome.Wiener medizinische Wochenschrift (1946), , Volume: 167, Issue:9-10, 2017
An open-label pilot trial of minocycline in children as a treatment for Angelman syndrome.BMC neurology, , Dec-10, Volume: 14, 2014
Methylation analysis of the PWS/AS region does not support an enhancer-competition model.Nature genetics, , Volume: 19, Issue:4, 1998
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.Human molecular genetics, , Volume: 6, Issue:3, 1997
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.Nature genetics, , Volume: 8, Issue:1, 1994
A Drosophila model for Angelman syndrome.Proceedings of the National Academy of Sciences of the United States of America, , Aug-26, Volume: 105, Issue:34, 2008
Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase.Human molecular genetics, , Sep-15, Volume: 15, Issue:18, 2006
Transmission of Angelman syndrome by an affected mother.Genetics in medicine : official journal of the American College of Medical Genetics, , Volume: 1, Issue:6
Protein Targets (0)