AS
MCID: ANG001
MIFTS: 61

Angelman Syndrome (AS)

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Angelman Syndrome

MalaCards integrated aliases for Angelman Syndrome:

Name: Angelman Syndrome 57 12 76 24 53 25 54 59 75 37 29 13 55 6 44 15 40 73
As 57 53 25 75
Happy Puppet Syndrome 12 75
Happy Puppet Syndrome, Formerly 57
Puppetlike Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
angelman syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe); Age of onset: Infancy; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
onset between 6 and 12 months of age
increased sensitivity to heat
incidence of 1 in 10,000 to 1 in 20,000
70% due to de novo maternal deletion of 15q11.2-q13
2% due to paternal uniparental disomy of 15q11.2-q13
2-3% due to imprinting defects
25% due to mutations in ube3a


HPO:

32
angelman syndrome:
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

24
Penetrance Inherited ube3a pathogenic variants, ic deletions, very small 15q11.2-q13 deletions that include ube3a [kuroda et al 2014] and certain chromosome translocations follow an imprinting (or inheritance) pattern in which an individual who inherits a paternally transmitted pathogenic variant is asymptomatic (see figure 3)...

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Angelman Syndrome

OMIM : 57 Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS; 176270) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (608636) shows overlapping clinical features. Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region. Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism. (105830)

MalaCards based summary : Angelman Syndrome, also known as as, is related to angelman syndrome due to imprinting defect in 15q11-q13 and christianson syndrome, and has symptoms including constipation, seizures and tremor, limb. An important gene associated with Angelman Syndrome is UBE3A (Ubiquitin Protein Ligase E3A), and among its related pathways/superpathways are Ubiquitin mediated proteolysis and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Carbidopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include tongue, brain and testes, and related phenotypes are seizures and ataxia

Genetics Home Reference : 25 Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.

NIH Rare Diseases : 53 Angelman syndrome is a genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, problems with movement and balance (ataxia), epilepsy, and a small head size. Individuals with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. Most cases of Angelman syndrome are not inherited, although in rare cases a genetic change responsible for Angelman syndrome can be inherited from a parent. Treatment is aimed at addressing each individual's symptoms and may include antiepileptics for seizures; physical, occupational, and speech therapy; and special education services. 

NINDS : 54 Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when he described several children in his practice as having "flat heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional deficits. Angelman syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother.

UniProtKB/Swiss-Prot : 75 Angelman syndrome: A neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open- mouthed expression revealing the tongue.

Wikipedia : 76 Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a... more...

GeneReviews: NBK1144

Related Diseases for Angelman Syndrome

Diseases in the Angelman Syndrome family:

Angelman Syndrome Due to a Point Mutation Angelman Syndrome Due to Imprinting Defect in 15q11-Q13
Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 Angelman Syndrome Due to Maternal 15q11q13 Deletion

Diseases related to Angelman Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 84, show less)
# Related Disease Score Top Affiliating Genes
1 angelman syndrome due to imprinting defect in 15q11-q13 34.1 ATP10A SNRPN UBE3A
2 christianson syndrome 32.2 CDKL5 SLC9A6
3 pervasive developmental disorder 30.5 CDKL5 GABRB3 MECP2 UBE3A
4 rett syndrome 30.1 CDKL5 GABRB3 MBD4 MECP2 UBE3A
5 autism spectrum disorder 29.9 GABRB3 MAGEL2 MECP2 UBE3A
6 hypotonia 29.7 MAGEL2 MECP2 UBE3A
7 prader-willi syndrome 29.2 GABRA5 GABRB3 MAGEL2 MECP2 NDN NIPA1
8 autism 28.5 CDKL5 GABRA5 GABRB3 MAGEL2 MBD4 MECP2
9 smoking as a quantitative trait locus 3 12.1
10 angelman syndrome due to paternal uniparental disomy of chromosome 15 12.0
11 smoking as a quantitative trait locus 1 11.9
12 smoking as a quantitative trait locus 2 11.9
13 angelman syndrome due to maternal 15q11q13 deletion 11.9
14 stature as a quantitative trait 11.9
15 angelman syndrome due to a point mutation 11.9
16 spondyloarthropathy 1 11.5
17 aortic valve disease 2 11.4
18 antisynthetase syndrome 11.3
19 hepatocellular carcinoma 11.3
20 lip cancer 11.2
21 scheie syndrome 11.2
22 mbd5 haploinsufficiency 11.0
23 chromosome 15q13.3 deletion syndrome 10.9 NPAP1 UBE3A
24 mental retardation, x-linked, syndromic, christianson type 10.9
25 acute gonococcal salpingitis 10.9
26 chromosome 15q11-q13 duplication syndrome 10.9 ANCR UBE3A
27 seizure disorder 10.7 CDKL5 MECP2 UBE3A
28 childhood absence epilepsy 10.4 GABRA5 GABRB3 NIPA2
29 epilepsy 10.4
30 gait apraxia 10.3 CDKL5 MECP2
31 neuronitis 10.3
32 aging 10.1
33 microcephaly 10.0
34 albinism 9.9
35 myoclonus 9.9
36 nondisjunction 9.8
37 down syndrome 9.8
38 alacrima, achalasia, and mental retardation syndrome 9.8
39 oculocutaneous albinism 9.8
40 status epilepticus 9.8
41 sleep disorder 9.8
42 prader-willi syndrome due to maternal uniparental disomy of chromosome 15 9.8 MAGEL2 NDN SNRPN
43 prader-willi syndrome due to imprinting mutation 9.8 MAGEL2 NDN SNRPN
44 prader-willi syndrome due to paternal deletion of 15q11q13 type 1 9.7 MAGEL2 NDN SNRPN
45 prader-willi syndrome due to paternal deletion of 15q11q13 type 2 9.7 MAGEL2 NDN SNRPN
46 alzheimer disease 9.7
47 hemifacial microsomia with radial defects 9.7
48 treacher collins syndrome 1 9.7
49 hemifacial microsomia 9.7
50 smith-magenis syndrome 9.7
51 tuberous sclerosis 1 9.7
52 albinism, oculocutaneous, type ii 9.7
53 celiac disease 1 9.7
54 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 9.7
55 isovaleric acidemia 9.7
56 oculocerebral syndrome with hypopigmentation 9.7
57 phenylketonuria 9.7
58 hypomelanosis of ito 9.7
59 muscular dystrophy, becker type 9.7
60 fragile x syndrome 9.7
61 gurrieri syndrome 9.7
62 anxiety 9.7
63 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
64 hepatitis 9.7
65 lennox-gastaut syndrome 9.7
66 scoliosis 9.7
67 intracranial aneurysm 9.7
68 spastic diplegia 9.7
69 tuberous sclerosis 9.7
70 hypothyroidism 9.7
71 cerebritis 9.7
72 thyroiditis 9.7
73 tyrosinemia 9.7
74 cleft lip 9.7
75 muscular dystrophy 9.7
76 47, xxy 9.7
77 chromosome 15q deletion 9.7
78 precocious puberty 9.7
79 aneurysm 9.7
80 encephalopathy 9.7
81 hypertonia 9.7
82 spasticity 9.7
83 tremor 9.7
84 chromosomal disease 9.4 GABRB3 MAGEL2 NDN SNRPN SNURF UBE3A

Graphical network of the top 20 diseases related to Angelman Syndrome:



Diseases related to Angelman Syndrome

Symptoms & Phenotypes for Angelman Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
hyperreflexia
absent speech
developmental delay
hypotonia
more
Skeletal Spine:
scoliosis

Head And Neck Head:
brachycephaly
flat occiput
microcephaly, postnatal
occipital groove

Growth Weight:
obesity (older children)

Head And Neck Eyes:
strabismus, most frequently exotropia
ocular hypopigmentation
refractive errors (astigmatism, hyperopia, myopia)

Neurologic Behavioral Psychiatric Manifestations:
paroxysmal laughter
easily excitable
attraction to/fascination with water, crinkly items (paper, plastic)

Abdomen Gastrointestinal:
constipation
feeding difficulties in neonatal period
excessive chewing/mouthing behaviors
abnormal food-related behaviors

Head And Neck Teeth:
widely spaced teeth

Head And Neck Mouth:
protruding tongue
macrostomia
excessive drooling

Head And Neck Face:
prognathia

Skin Nails Hair Skin:
hypopigmentation (seen only in deletion cases)


Clinical features from OMIM:

105830

Human phenotypes related to Angelman Syndrome:

59 32 (showing 48, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
5 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
6 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
7 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158
8 mandibular prognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000303
9 widely spaced teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000687
10 behavioral abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000708
11 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
12 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
13 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
14 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
15 absent speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001344
16 cerebral cortical atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002120
17 intellectual disability, progressive 59 32 hallmark (90%) Very frequent (99-80%) HP:0006887
18 wide mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000154
19 hypoplasia of the maxilla 59 32 frequent (33%) Frequent (79-30%) HP:0000327
20 blue irides 59 32 hallmark (90%) Very frequent (99-80%) HP:0000635
21 obesity 32 HP:0001513
22 nystagmus 32 HP:0000639
23 intellectual disability 32 HP:0001249
24 constipation 32 HP:0002019
25 neurological speech impairment 59 Very frequent (99-80%)
26 scoliosis 32 HP:0002650
27 global developmental delay 32 HP:0001263
28 feeding difficulties in infancy 32 HP:0008872
29 myopia 32 HP:0000545
30 deeply set eye 32 HP:0000490
31 abnormality of the face 59 Very frequent (99-80%)
32 protruding tongue 32 HP:0010808
33 flat occiput 32 HP:0005469
34 clumsiness 32 hallmark (90%) HP:0002312
35 truncal ataxia 32 HP:0002078
36 motor delay 32 HP:0001270
37 hyperactivity 32 HP:0000752
38 postnatal microcephaly 32 HP:0005484
39 drooling 32 HP:0002307
40 generalized hypotonia 32 HP:0001290
41 hypopigmentation of the skin 32 HP:0001010
42 progressive gait ataxia 32 HP:0007240
43 exotropia 32 HP:0000577
44 broad-based gait 32 hallmark (90%) HP:0002136
45 paroxysmal bursts of laughter 32 HP:0000749
46 fair hair 32 HP:0002286
47 sleep-wake cycle disturbance 32 HP:0006979
48 limb tremor 32 HP:0200085

UMLS symptoms related to Angelman Syndrome:


constipation, seizures, tremor, limb

MGI Mouse Phenotypes related to Angelman Syndrome:

46 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.32 GABRA5 GABRB3 HUWE1 MAGEL2 MBD4 MECP2

Drugs & Therapeutics for Angelman Syndrome

Drugs for Angelman Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 48, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbidopa Approved Phase 2, Phase 3,Phase 1,Not Applicable 28860-95-9 34359 38101
2
Dopamine Approved Phase 2, Phase 3,Phase 1,Not Applicable 51-61-6, 62-31-7 681
3
Levodopa Approved Phase 2, Phase 3,Phase 1,Not Applicable 59-92-7 6047
4
Melatonin Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 73-31-4 896
5 Antiparkinson Agents Phase 2, Phase 3,Phase 1,Not Applicable
6 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2, Phase 3,Phase 1,Not Applicable
7 Carbidopa, levodopa drug combination Phase 2, Phase 3,Phase 1,Not Applicable
8 Dihydroxyphenylalanine Phase 2, Phase 3,Phase 1
9 Dopamine Agents Phase 2, Phase 3,Phase 1,Not Applicable
10 Neurotransmitter Agents Phase 2, Phase 3,Phase 1,Not Applicable
11 Antioxidants Phase 3,Phase 1
12 Central Nervous System Depressants Phase 3,Phase 1
13 Protective Agents Phase 3,Phase 1
14
Minocycline Approved, Investigational Phase 2,Not Applicable 10118-90-8 5281021
15
Gaboxadol Investigational Phase 2,Phase 1 64603-91-4 3448
16 Anti-Bacterial Agents Phase 2,Not Applicable
17 Anti-Infective Agents Phase 2,Not Applicable
18 Micronutrients Phase 2,Not Applicable
19 Trace Elements Phase 2,Not Applicable
20 Analgesics Phase 2
21 Anticonvulsants Phase 2
22 GABA Agents Phase 2
23 GABA Agonists Phase 2
24 Peripheral Nervous System Agents Phase 2
25 Adjuvants, Immunologic Phase 1,Not Applicable
26 Dopamine agonists Phase 1,Not Applicable
27
Tetracycline Approved, Vet_approved Not Applicable 60-54-8 5353990
28
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 44475014
29
Betaine Approved, Nutraceutical Not Applicable 107-43-7 247
30
Creatine Approved, Investigational, Nutraceutical Not Applicable 57-00-1 586
31
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
32
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
33
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Not Applicable 13422-55-4
34 Antacids Not Applicable
35 Anti-Ulcer Agents Not Applicable
36 Calcium, Dietary Not Applicable
37 Vitamins Not Applicable
38 Antimetabolites Not Applicable
39 Gastrointestinal Agents Not Applicable
40 Hematinics Not Applicable
41 Hypolipidemic Agents Not Applicable
42 Lipid Regulating Agents Not Applicable
43 Vitamin B 12 Not Applicable
44 Vitamin B Complex Not Applicable
45
Cobalamin Nutraceutical Not Applicable 13408-78-1 6438156
46 Folate Nutraceutical Not Applicable
47 Vitamin B12 Nutraceutical Not Applicable
48 Vitamin B9 Nutraceutical Not Applicable

Interventional clinical trials:

(showing 18, show less)
# Name Status NCT ID Phase Drugs
1 A Trial of Levodopa in Angelman Syndrome Completed NCT01281475 Phase 2, Phase 3 Levodopa;Placebo Oral Capsule
2 Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities Completed NCT01906866 Phase 3 Circadin 2/5/10 mg;Placebo
3 Study to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome Completed NCT02056665 Phase 2 MINOCYCLINE;PLACEBO (for Minocycline)
4 A Study in Adults and Adolescents With Angelman Syndrome Active, not recruiting NCT02996305 Phase 2 OV101 Regimen 1;OV101 regimen 2
5 An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder Withdrawn NCT02226458 Phase 2 EPI-743
6 Study on Tolerability of Levodopa/Carbidopa in Children With Angelman Syndrome Completed NCT00829439 Phase 1 Levodopa/Carbidopa (4:1)
7 Single Dose Pharmacokinetic (PK) Study Completed NCT03109756 Phase 1 OV101
8 Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1 Circadin 2 mg;Circadin 10 mg
9 Minocycline in the Treatment of Angelman Syndrome Unknown status NCT01531582 Not Applicable minocycline
10 Dietary Supplements for the Treatment of Angelman Syndrome Completed NCT00348933 Not Applicable Betaine;Creatine;Metafolin;Vitamin B12
11 Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW Completed NCT02670694
12 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
13 Genomic Imprinting and Assisted Reproductive Technologies Completed NCT00773825
14 Effects of Creatine Supplementation in Rett Syndrome Completed NCT01147575 Not Applicable
15 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457
16 Characterization of Angelman Syndrome Active, not recruiting NCT00296764
17 Study on the Brain Network of Angelman Syndrome Enrolling by invitation NCT03358823
18 Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome Enrolling by invitation NCT03235037 Not Applicable Levodopa

Search NIH Clinical Center for Angelman Syndrome

Cochrane evidence based reviews: angelman syndrome

Genetic Tests for Angelman Syndrome

Genetic tests related to Angelman Syndrome:

# Genetic test Affiliating Genes
1 Angelman Syndrome 29 UBE3A

Anatomical Context for Angelman Syndrome

MalaCards organs/tissues related to Angelman Syndrome:

41
Tongue, Brain, Testes, Eye, Skin, Cortex, Cerebellum

Publications for Angelman Syndrome

Articles related to Angelman Syndrome:

(showing 653, show less)
# Title Authors Year
1
A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing. ( 29643790 )
2018
2
Angelman syndrome in adolescence and adulthood: A retrospective chart review of 53 cases. ( 29696750 )
2018
3
Loss of Angelman Syndrome Protein E6AP Disrupts a Novel Antagonistic Estrogen-Retinoic Acid Transcriptional Crosstalk in Neurons. ( 29388081 )
2018
4
Taurine Administration Recovers Motor and Learning Deficits in an Angelman Syndrome Mouse Model. ( 29621152 )
2018
5
Detection of a case of Angelman syndrome caused by an imprinting error in 949 pregnancies analyzed for AS following IVF. ( 29654525 )
2018
6
Identification of spatiotemporal gait parameters and pressure-related characteristics in children with Angelman syndrome: A pilot study. ( 29737626 )
2018
7
Lovastatin suppresses hyperexcitability and seizure in Angelman syndrome model. ( 29097328 )
2018
8
Vagal nerve stimulation for medically refractory epilepsy in Angelman syndrome: a series of three cases. ( 29350262 )
2018
9
Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study. ( 29719672 )
2018
10
Effect of epilepsy on autism symptoms in Angelman syndrome. ( 29340132 )
2018
11
Quantitative proteomics reveals neuronal ubiquitination of Rngo/Ddi1 and several proteasomal subunits by Ube3a, accounting for the complexity of Angelman syndrome. ( 29788202 )
2018
12
Enhanced operant extinction and prefrontal excitability in a mouse model of Angelman syndrome. ( 29431654 )
2018
13
Anesthesia considerations for an adult patient with Angelman syndrome. ( 29414622 )
2018
14
Prader-Willi Syndrome and Angelman Syndrome: Visualisation of the molecular pathways for two chromosomal disorders. ( 29425059 )
2018
15
Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons. ( 29423132 )
2018
16
Diazepam for outpatient treatment of nonconvulsive status epilepticus in pediatric patients with Angelman syndrome. ( 29597185 )
2018
17
A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex. ( 29490614 )
2018
18
Research protocol: The initiation, design and establishment of the Global Angelman Syndrome Registry. ( 29633452 )
2018
19
Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1. ( 29566378 )
2018
20
Myoclonus in Angelman syndrome. ( 29555100 )
2018
21
Corrigendum: Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing. ( 29516994 )
2018
22
Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature. ( 29162042 )
2017
23
Epilepsy and sleep disorders improve in adolescents and adults with Angelman syndrome: A multicenter study on 46 patients. ( 28827041 )
2017
24
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature. ( 28211971 )
2017
25
Enhanced nociception in Angelman syndrome model mice. ( 28931574 )
2017
26
A randomized controlled trial of levodopa in patients with Angelman syndrome. ( 28944563 )
2017
27
In vivo imaging of prodromal hippocampus CA1 subfield oxidative stress in models of Alzheimer disease and Angelman syndrome. ( 28592637 )
2017
28
Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene. ( 28898887 )
2017
29
Activity-Dependent Arc Expression and Homeostatic Synaptic Plasticity Are Altered in Neurons from a Mouse Model of Angelman Syndrome. ( 28804447 )
2017
30
Angelman Syndrome: Identification and Management. ( 28494826 )
2017
31
Incontinence in persons with Angelman syndrome. ( 28000035 )
2017
32
Hypersociability in the Angelman syndrome mouse model. ( 28411125 )
2017
33
Sleep in Angelman syndrome: A review of evidence. ( 28784434 )
2017
34
Unmet clinical needs and burden in Angelman syndrome: a review of the literature. ( 29037196 )
2017
35
[Clinical and genetic analysis of two unrelated patients with Angelman syndrome and novel UBE3A mutations]. ( 29188609 )
2017
36
Sleep in children with Angelman syndrome: Parental concerns and priorities. ( 28844022 )
2017
37
Angelman Syndrome Due to UBE3A Gene Mutation. ( 29250725 )
2017
38
Early Origin and Evolution of the Angelman Syndrome Ubiquitin Ligase Gene Ube3a. ( 28326016 )
2017
39
Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome. ( 28487808 )
2017
40
Mom Genes: A Role for Loss of Maternal<i>Ube3a</i>in GABAergic Neurons in Angelman Syndrome. ( 29225531 )
2017
41
Main causes of hospitalization in people with Angelman syndrome. ( 28869323 )
2017
42
Prevalence of gastrointestinal symptoms in Angelman syndrome. ( 28816003 )
2017
43
Anesthetic Considerations for Angelman Syndrome: Case Series and Review of the Literature. ( 29696118 )
2017
44
Exploring Expressive Communication Skills in a Cross-Sectional Sample of Children and Young Adults With Angelman Syndrome. ( 28384804 )
2017
45
Melatonin and Angelman Syndrome: Implications and Mathematical Model of Diurnal Secretion. ( 29379523 )
2017
46
Low glycemic index treatment for seizure control in Angelman syndrome: A case series from the Center for Dietary Therapy of Epilepsy at the Massachusetts General Hospital. ( 28109989 )
2017
47
A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry. ( 28764722 )
2017
48
Eye gaze and pupillary response in Angelman syndrome. ( 28750207 )
2017
49
Angelman syndrome and anaesthetic considerations. ( 28216711 )
2017
50
Strain-dependence of the Angelman Syndrome phenotypes in Ube3a maternal deficiency mice. ( 28814801 )
2017
51
Two Sisters with Angelman Syndrome: A Case Series Report. ( 29675084 )
2017
52
Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells. ( 28436452 )
2017
53
Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis. ( 28503211 )
2017
54
Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice. ( 28663201 )
2017
55
Enhanced Transmission at the Calyx of Held Synapse in a Mouse Model for Angelman Syndrome. ( 29354033 )
2017
56
UBE3A loss increases excitability and blunts orientation tuning in the visual cortex of Angelman syndrome model mice. ( 28468997 )
2017
57
Rescue of altered HDAC activity recovers behavioural abnormalities in a mouse model of Angelman syndrome. ( 28576709 )
2017
58
Left ventricular dysfunction in a patient with Angelman syndrome. ( 28877039 )
2017
59
Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature. ( 27771696 )
2016
60
Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome. ( 26841067 )
2016
61
Angelman Syndrome in the Portrait of a Child With a Drawing by Giovanni F. Caroto. ( 27380555 )
2016
62
Description and Evaluation of a Home-Based, Parent-Administered Program for Teaching Enhanced Natural Gestures to Individuals With Angelman Syndrome. ( 26847597 )
2016
63
Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features. ( 27006693 )
2016
64
Ketone ester supplementation attenuates seizure activity, and improves behavior and hippocampal synaptic plasticity in an Angelman syndrome mouse model. ( 27546058 )
2016
65
From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study. ( 27626634 )
2016
66
Environmental Enrichment Improves Behavioral Abnormalities in a Mouse Model of Angelman Syndrome. ( 27581300 )
2016
67
Genetically Dissecting Cortical Neurons Involved in Epilepsy in Angelman Syndrome. ( 27054611 )
2016
68
Prenatal diagnosis and genetic counseling in a fetus associated with risk of Angelman syndrome with a small supernumerary marker chromosome derived from chromosome 22. ( 27148405 )
2016
69
Seizure treatment in Angelman syndrome: A case series from the Angelman Syndrome Clinic at Massachusetts General Hospital. ( 27206232 )
2016
70
Persistent neuronal Ube3a expression in the suprachiasmatic nucleus of Angelman syndrome model mice. ( 27306933 )
2016
71
Angelman syndrome - insights into a rare neurogenetic disorder. ( 27615419 )
2016
72
Neurodevelopmental profile in Angelman syndrome: more than low intelligence quotient. ( 27769316 )
2016
73
Angelman Syndrome: A Case Report. ( 27247589 )
2016
74
Scrutinizing brain magnetic resonance imaging patterns in Angelman syndrome. ( 26954797 )
2016
75
GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility. ( 27021170 )
2016
76
Sedation with dexmedetomidine for conducting electroencephalogram in a patient with Angelman syndrome: a case report. ( 26952234 )
2016
77
A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome. ( 27535666 )
2016
78
Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing. ( 27484051 )
2016
79
Effects of the synthetic neurosteroid ganaxolone on seizure activity and behavioral deficits in an Angelman syndrome mouse model. ( 27986596 )
2016
80
Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila. ( 27232889 )
2016
81
mTORC1-S6K1 inhibition or mTORC2 activation improves hippocampal synaptic plasticity and learning in Angelman syndrome mice. ( 27173058 )
2016
82
Angelman syndrome: Current and emerging therapies in 2016. ( 27860204 )
2016
83
Analysis of peripheral amyloid precursor protein in Angelman Syndrome. ( 27327493 )
2016
84
Angelman syndrome in Hong Kong Chinese: A 20 years' experience. ( 27174604 )
2016
85
Pharmacological therapies for Angelman syndrome. ( 26758979 )
2016
86
Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations. ( 27323320 )
2016
87
Quantitative Measurement of Communication Ability in Children with Angelman Syndrome. ( 27990716 )
2016
88
Reflex seizures in a patient with Angelman syndrome and trisomy 21. ( 26972081 )
2016
89
Applicability of genetic polymorphism analysis for the diagnosis of Angelman syndrome and the correlation between language difficulties and disease phenotype. ( 27323188 )
2016
90
Protein Delivery of an Artificial Transcription Factor Restores Widespread Ube3a Expression in an Angelman Syndrome Mouse Brain. ( 26727042 )
2016
91
Angelman syndrome in an infant boy. ( 27575902 )
2016
92
Potential therapeutic approaches for Angelman syndrome. ( 26558806 )
2015
93
Imbalanced mechanistic target of rapamycin c1 and c2 activity in the cerebellum of angelman syndrome mice impairs motor function. ( 25788687 )
2015
94
Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman syndrome. ( 25684537 )
2015
95
Teaching discriminated social approaches to individuals with Angelman syndrome. ( 26250932 )
2015
96
Seizure-like activity in a juvenile Angelman syndrome mouse model is attenuated by reducing Arc expression. ( 25848016 )
2015
97
Angelman syndrome: The blurred lines of interpretation in cognitive defects. ( 25878752 )
2015
98
Angelman Syndrome. ( 26040994 )
2015
99
Ube3a imprinting impairs circadian robustness in Angelman syndrome models. ( 25660546 )
2015
100
The neurobehavioral and molecular phenotype of Angelman Syndrome. ( 26219744 )
2015
101
Brief Report: A Longitudinal Study of Excessive Smiling and Laughing in Children with Angelman Syndrome. ( 25749713 )
2015
102
Uncovering a Role for SK2 in Angelman Syndrome. ( 26200312 )
2015
103
Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model. ( 25866966 )
2015
104
Impaired adult hippocampal neurogenesis and its partial reversal by chronic treatment of fluoxetine in a mouse model of Angelman syndrome. ( 26231800 )
2015
105
Angelman syndrome-associated ubiquitin ligase UBE3A/E6AP mutants interfere with the proteolytic activity of the proteasome. ( 25633294 )
2015
106
Angelman syndrome and isovaleric acidemia: What is the link? ( 26937393 )
2015
107
Reelin supplementation recovers synaptic plasticity and cognitive deficits in a mouse model for Angelman syndrome. ( 25864922 )
2015
108
From UBE3A to Angelman syndrome: a substrate perspective. ( 26441497 )
2015
109
Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect. ( 25899869 )
2015
110
Correction for Lewis et al., Angelman syndrome imprinting center encodes a transcriptional promoter. ( 25588880 )
2015
111
Genetic heterogenicity of Angelman syndrome and its significance to the anesthesiologist. ( 25558215 )
2015
112
Of mothers and myelin: Aberrant myelination phenotypes in mouse model of Angelman syndrome are dependent on maternal and dietary influences. ( 26028516 )
2015
113
Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization. ( 25901183 )
2015
114
Angelman Syndrome: A Review Highlighting Musculoskeletal and Anatomical Aberrations. ( 26480021 )
2015
115
Behaviour and neuroanatomy in Angelman Syndrome mice. ( 26531481 )
2015
116
Phenotype of a child with Angelman syndrome born to a woman with Prader-Willi syndrome. ( 25832033 )
2015
117
Dissociation of locomotor and cerebellar deficits in a murine Angelman syndrome model. ( 26485287 )
2015
118
Yin-and-Yang of mTORC1/C2 in Angelman syndrome mice. ( 26116835 )
2015
119
Neurodevelopmental disorders. Unmuting Ube3a in mice alleviates Angelman syndrome. ( 25511900 )
2015
120
Toward a broader view of ube3a in a mouse model of angelman syndrome: expression in brain, spinal cord, sciatic nerve and glial cells. ( 25894543 )
2015
121
Parent stress across molecular subtypes of children with Angelman syndrome. ( 25833412 )
2015
122
The Effect of Menstrual Issues on Young Women with Angelman Syndrome. ( 26718530 )
2015
123
Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy. ( 26559560 )
2015
124
Angelman syndrome presenting with a rare seizure type in a patient with 15q11.2 deletion: a case report. ( 26077608 )
2015
125
Mitochondrial Superoxide Contributes to Hippocampal Synaptic Dysfunction and Memory Deficits in Angelman Syndrome Model Mice. ( 26658871 )
2015
126
Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations. ( 24796722 )
2014
127
Electroencephalogram (EEG) Duration Needed to Detect Abnormalities in Angelman Syndrome: Is 1 Hour of Overnight Recording Sufficient? ( 24820335 )
2014
128
Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model. ( 24434871 )
2014
129
Clinical utility gene card for: Angelman Syndrome. ( 24896151 )
2014
130
[The use of molecular cytogenetic and cytogenetic techniques for the diagnosis of Prader-Willi and Angelman syndrome]. ( 24637817 )
2014
131
Uroflowmetric assessment in participants with Angelman syndrome. ( 24483168 )
2014
132
An open-label pilot trial of minocycline in children as a treatment for Angelman syndrome. ( 25491305 )
2014
133
A retrospective review to assess whether spinal fusion and scoliosis correction improved activity and participation for children with Angelman syndrome: Brief report. ( 25549057 )
2014
134
Somatic and germ-line mosaicism of deletion 15q11.2-q13 in a mother of dyzigotic twins with Angelman syndrome. ( 24311297 )
2014
135
Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region. ( 24975781 )
2014
136
Disruption of the LTD dialogue between the cerebellum and the cortex in Angelman syndrome model: a timing hypothesis. ( 25477791 )
2014
137
Neurodevelopmental Underpinnings of Angelman Syndrome. ( 26491538 )
2014
138
Eating behavior, prenatal and postnatal growth in Angelman syndrome. ( 25064682 )
2014
139
Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2. ( 25099823 )
2014
140
Neurodevelopmental outcome in Angelman syndrome: genotype-phenotype correlations. ( 24656292 )
2014
141
Parents' perceptions of communication patterns and effectiveness of use of augmentative and alternative communication systems by their children with angelman syndrome. ( 24700165 )
2014
142
Reversal of reduced parvalbumin neurons in hippocampus and amygdala of Angelman syndrome model mice by chronic treatment of fluoxetine. ( 24678582 )
2014
143
Angelman syndrome: review of clinical and molecular aspects. ( 24876791 )
2014
144
Overview of the Enhanced Natural Gestures Instructional Approach and Illustration of Its Use with Three Students with Angelman Syndrome. ( 24917540 )
2014
145
Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling angelman syndrome. ( 24672001 )
2014
146
The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders. ( 24946931 )
2014
147
Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects. ( 25402239 )
2014
148
Angelman syndrome imprinting center encodes a transcriptional promoter. ( 25378697 )
2014
149
Revisiting epilepsy and the electroencephalogram patterns in Angelman syndrome. ( 24395242 )
2014
150
Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13. ( 25379297 )
2014
151
Mutation Update for UBE3A Variants in Angelman Syndrome. ( 25212744 )
2014
152
Sodium-potassium ATPase emerges as a player in hippocampal phenotypes of Angelman syndrome mice. ( 24501262 )
2014
153
Prenatal diagnosis of Prader-Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13. ( 24434231 )
2014
154
Discrimination training reduces high rate social approach behaviors in Angelman syndrome: proof of principle. ( 23518390 )
2013
155
Angelman syndrome due to a termination codon mutation of the UBE3A gene. ( 22566713 )
2013
156
Behavioral deficits in an Angelman syndrome model: effects of genetic background and age. ( 23295389 )
2013
157
Angelman syndrome in three biological siblings: Focusing on the neuropsychiatric domain. ( 24470816 )
2013
158
Dental findings and special care in patients with Angelman syndrome: a report of three cases. ( 23278148 )
2013
159
The Angelman syndrome protein Ube3a is required for polarized dendrite morphogenesis in pyramidal neurons. ( 23283345 )
2013
160
Use and acceptance of AAC systems by children with Angelman syndrome. ( 23606637 )
2013
161
Diagnostic approach of angelman syndrome. ( 24790661 )
2013
162
Implications of slow waves and shifting epileptiform discharges in Angelman syndrome. ( 22704603 )
2013
163
Parents' reports of patterns of use and exposure to practices associated with AAC acceptance by individuals with Angelman syndrome. ( 23621361 )
2013
164
Neurologic manifestations of Angelman syndrome. ( 23498559 )
2013
165
The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation. ( 23447592 )
2013
166
Communication modality sampling for a toddler with Angelman syndrome. ( 24124202 )
2013
167
Region-specific impairments in striatal synaptic transmission and impaired instrumental learning in a mouse model of Angelman syndrome. ( 24329862 )
2013
168
Genetic reduction of the I+1 subunit of Na/K-ATPase corrects multiple hippocampal phenotypes in Angelman syndrome. ( 23911285 )
2013
169
Toilet training in individuals with Angelman syndrome: A case series. ( 23957894 )
2013
170
Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion. ( 23124039 )
2013
171
Evaluation of a behavioral treatment package to reduce sleep problems in children with Angelman Syndrome. ( 23123881 )
2013
172
Angelman syndrome. ( 23622177 )
2013
173
Screening of UBE3A gene in patients referred for Angelman Syndrome. ( 23416059 )
2013
174
Molecular and clinical characterization of Angelman syndrome in Chinese patients. ( 23551092 )
2013
175
Recurrence of Angelman Syndrome in Siblings: Challenges in Genetic Counseling. ( 24288033 )
2013
176
Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases. ( 24011290 )
2013
177
Ube3a, the E3 ubiquitin ligase causing Angelman syndrome and linked to autism, regulates protein homeostasis through the proteasomal shuttle Rpn10. ( 24292889 )
2013
178
Incontinence in individuals with Angelman syndrome: a comparative study. ( 24076983 )
2013
179
Angelman syndrome caused by deletion: a genotype-phenotype correlation determined by breakpoint. ( 23352739 )
2013
180
Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model. ( 24385930 )
2013
181
Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis. ( 23913711 )
2013
182
A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment. ( 23320815 )
2013
183
Recurrent fractures as a new skeletal problem in the course of Angelman syndrome. ( 23747006 )
2013
184
Impairment of TrkB-PSD-95 signaling in Angelman syndrome. ( 23424281 )
2013
185
Neurodevelopmental outcomes in children with Angelman syndrome after 1 year of behavioural intervention. ( 22646082 )
2012
186
Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome. ( 23143301 )
2012
187
Are children with Angelman syndrome at high risk for anesthetic complications? ( 21801274 )
2012
188
Relationship between aberrant brain connectivity and clinical features in Angelman Syndrome: a new method using tract based spatial statistics of DTI color-coded orientation maps. ( 21827860 )
2012
189
Functional analysis and functional communication training in individuals with Angelman syndrome. ( 22494082 )
2012
190
Dental treatment in Angelman syndrome patients. 8 case reports. ( 23270298 )
2012
191
Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome. ( 23220633 )
2012
192
Angelman syndrome and thyroid dysfunction. ( 23072182 )
2012
193
Maternal UBE3A in Angelman syndrome: &amp;quot;the rest is silence&amp;quot;? ( 22552181 )
2012
194
Altered serotonin, dopamine and norepinepherine levels in 15q duplication and Angelman syndrome mouse models. ( 22916201 )
2012
195
Low glycemic index treatment for seizures in Angelman syndrome. ( 22779920 )
2012
196
De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s. ( 22720067 )
2012
197
Melatonin profile and its relation to circadian rhythm sleep disorders in Angelman syndrome patients. ( 22841843 )
2012
198
Sudden death and Angelman syndrome. ( 21854386 )
2012
199
Neurodevelopmental disorders: Unsilencing dormant Ube3a--hope for Angelman syndrome? ( 22270025 )
2012
200
Analysis of EEG patterns and genotypes in patients with Angelman syndrome. ( 22341959 )
2012
201
Ca(2+)/calmodulin-dependent protein kinase III+ (I+CaMKII) controls the activity of the dopamine transporter: implications for Angelman syndrome. ( 22778257 )
2012
202
Sleep in children and adolescents with Angelman syndrome: association with parent sleep and stress. ( 22044653 )
2012
203
Defective glucocorticoid hormone receptor signaling leads to increased stress and anxiety in a mouse model of Angelman syndrome. ( 22215440 )
2012
204
Reversal of impaired hippocampal long-term potentiation and contextual fear memory deficits in Angelman syndrome model mice by ErbB inhibitors. ( 22381732 )
2012
205
Another cause of vaccine encephalopathy: a case of Angelman syndrome. ( 22342448 )
2012
206
1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes. ( 23256887 )
2012
207
Angelman syndrome: Drugs to awaken a paternal gene. ( 22190038 )
2012
208
Sibling relationships in individuals with Angelman syndrome: a comparative study. ( 22296525 )
2012
209
Molecular and Clinical Aspects of Angelman Syndrome. ( 22670133 )
2012
210
Epilepsy in Korean patients with Angelman syndrome. ( 22670152 )
2012
211
Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class. ( 21831244 )
2012
212
Understanding the pathogenesis of Angelman syndrome through animal models. ( 22830052 )
2012
213
Normal social seeking behavior, hypoactivity and reduced exploratory range in a mouse model of Angelman syndrome. ( 21235769 )
2011
214
Effects of adult familiarity on social behaviours in Angelman syndrome. ( 21255175 )
2011
215
Alterations in white matter pathways in Angelman syndrome. ( 21121904 )
2011
216
Angelman syndrome and pseudo-hypsarrhythmia: a diagnostic pitfall. ( 21865124 )
2011
217
Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome. ( 19563863 )
2011
218
Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus. ( 22242001 )
2011
219
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. ( 22002941 )
2011
220
Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes. ( 21587322 )
2011
221
Ophthalmic findings in Angelman syndrome. ( 21596294 )
2011
222
Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome. ( 22174738 )
2011
223
Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testing. ( 21227401 )
2011
224
A novel missense mutation of the ubiquitin protein ligase E3A gene in a patient with Angelman syndrome. ( 21362313 )
2011
225
Age related change in social behavior in children with Angelman syndrome. ( 21567915 )
2011
226
Angelman syndrome: advancing the research frontier of neurodevelopmental disorders. ( 21484597 )
2011
227
Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregation. ( 21633703 )
2011
228
A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome. ( 21812100 )
2011
229
Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes. ( 21592595 )
2011
230
Novel deletion encompassing exons 5-12 of the UBE3A gene in a girl with Angelman syndrome. ( 21397058 )
2011
231
Alterations in intrinsic membrane properties and the axon initial segment in a mouse model of Angelman syndrome. ( 22131424 )
2011
232
Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA. ( 22065487 )
2011
233
UBE3A regulates MC1R expression: a link to hypopigmentation in Angelman syndrome. ( 21733131 )
2011
234
Abnormal language pathway in children with Angelman syndrome. ( 21481743 )
2011
235
Angelman syndrome and prenatally diagnosed Prader-Willi syndrome in first cousins. ( 21964995 )
2011
236
Angelman syndrome: Mutations influence features in early childhood. ( 21204213 )
2011
237
The behavioral phenotype of the Angelman syndrome. ( 20981772 )
2010
238
Anesthesia of a dental patient with Angelman syndrome -A case report-. ( 20498802 )
2010
239
Prader-Willi syndrome and Angelman syndrome. ( 20803659 )
2010
240
Regulation of the polycomb protein Ring1B by self-ubiquitination or by E6-AP may have implications to the pathogenesis of Angelman syndrome. ( 20351251 )
2010
241
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. ( 20729760 )
2010
242
Adaptive behaviour in Angelman syndrome: its profile and relationship to age. ( 20854288 )
2010
243
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype. ( 20382277 )
2010
244
The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. ( 20211139 )
2010
245
Clinical and genetic aspects of Angelman syndrome. ( 20445456 )
2010
246
Anesthetic management in a child with Angelman syndrome. ( 20642665 )
2010
247
Do the physiotherapy results make us happy in a case with 'happy puppet' (Angelman) syndrome? ( 22802472 )
2010
248
Refractive lens exchange with intraocular lens implantation in hyperopic eyes of a patient with Angelman syndrome. ( 20656169 )
2010
249
Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex. ( 20692323 )
2010
250
Levetiracetam in nonconvulsive status epilepticus in a child with Angelman syndrome. ( 19605773 )
2010
251
A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree. ( 20034088 )
2010
252
Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome. ( 20602489 )
2010
253
Angelman syndrome and celiac disease. ( 20617869 )
2010
254
Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome. ( 20423730 )
2010
255
Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. ( 20184619 )
2010
256
Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3. ( 20808828 )
2010
257
Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation. ( 20571502 )
2010
258
Parents' priorities for AAC and related instruction for their children with Angelman Syndrome. ( 20196702 )
2010
259
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. ( 20635355 )
2010
260
Neuroscience: Angelman syndrome connections. ( 21164477 )
2010
261
Angelman syndrome, a genomic imprinting disorder of the brain. ( 20668179 )
2010
262
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome. ( 21072004 )
2010
263
Epilepsy in patients with Angelman syndrome. ( 20398390 )
2010
264
Abnormal myelination in Angelman syndrome. ( 19720548 )
2010
265
Maternal parenting stress in families with a child with Angelman syndrome or Prader-Willi syndrome. ( 20809878 )
2010
266
Preview. Angelman syndrome: finding the lost arc. ( 20211128 )
2010
267
Ketogenic diet in a patient with Angelman syndrome. ( 20880305 )
2010
268
Angelman syndrome at the synapse: meeting report of the Angelman Syndrome Foundation's 2009 scientific symposium. ( 20101047 )
2010
269
Loss of dopaminergic neurons and resulting behavioural deficits in mouse model of Angelman syndrome. ( 20696245 )
2010
270
Epilepsy and the sleep-wake patterns found in Angelman syndrome. ( 19453716 )
2009
271
What would the brain look like in Angelman syndrome? ( 18824378 )
2009
272
Functioning and disability in patients with Angelman syndrome: utility of the International Classification of functioning disability and health, children and youth adaptation framework. ( 19968524 )
2009
273
Angelman syndrome: current understanding and research prospects. ( 19874386 )
2009
274
Experimental functional analysis of aggression in children with Angelman syndrome. ( 19361955 )
2009
275
Detection and discrimination between deletional and non-deletional Prader-Willi and Angelman syndromes by methylation-specific PCR and quantitative melting curve analysis. ( 19661385 )
2009
276
Schatzki's Ring in Angelman Syndrome: A Diagnostic Dilemma in Neurodevelopmentally Disabled Patients. ( 22505969 )
2009
277
Angelman syndrome (AS, MIM 105830). ( 19455185 )
2009
278
Novel human pathological mutations. Gene symbol: UBE3A. Disease: Angelman Syndrome. ( 19693993 )
2009
279
The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches. ( 18996915 )
2009
280
Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15. ( 20033293 )
2009
281
Benefit of corticosteroid therapy in Angelman syndrome. ( 19666884 )
2009
282
Angelman syndrome scientific symposium on the structure and function of UBE3A/E6AP. ( 19617463 )
2009
283
Abnormal myelination in Angelman syndrome. ( 18573670 )
2009
284
Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options. ( 19453717 )
2009
285
Impaired hippocampal plasticity and altered neurogenesis in adult Ube3a maternal deficient mouse model for Angelman syndrome. ( 19782683 )
2009
286
Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. ( 19213023 )
2009
287
Anaesthesia for an adult with Angelman syndrome. ( 19825063 )
2009
288
[Epileptic seizures in Angelman syndrome]. ( 18654963 )
2008
289
Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion. ( 17975803 )
2008
290
A review of physical, behavioral, and oral characteristics associated with Treacher Collins syndrome, Goldenhar syndrome, and Angelman syndrome. ( 18683396 )
2008
291
Aberrant somatosensory-evoked responses imply GABAergic dysfunction in Angelman syndrome. ( 17962046 )
2008
292
Are there distinctive sleep problems in Angelman syndrome? ( 17765640 )
2008
293
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. ( 17940072 )
2008
294
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. ( 18342287 )
2008
295
Gene symbol: UBE3A. Disease: Angelman syndrome. ( 18846633 )
2008
296
Gene symbol: UBE3A. Disease: Angelman syndrome. ( 20960605 )
2008
297
Anaesthesia for Angelman syndrome. ( 18477280 )
2008
298
[(11)C]flumazenil positron emission tomography analyses of brain gamma-aminobutyric acid type A receptors in Angelman syndrome. ( 18346513 )
2008
299
Dental treatment of children with Angelman syndrome: a case report. ( 18271768 )
2008
300
Behavior and neuropsychiatric manifestations in Angelman syndrome. ( 18830393 )
2008
301
Preference for water-related items in Angelman syndrome, Down syndrome and non-specific intellectual disability. ( 18300168 )
2008
302
Melatonin for chronic insomnia in Angelman syndrome: a randomized placebo-controlled trial. ( 18539989 )
2008
303
Angelman syndrome and anesthesia. ( 19076580 )
2008
304
Behavioural flexibility in individuals with Angelman syndrome, Down syndrome, non-specific intellectual disability and Autism spectrum disorder. ( 18384537 )
2008
305
Angelman syndrome due to a novel splicing mutation of the UBE3A gene. ( 18487518 )
2008
306
Vagal hypertonia and anesthesia in Angelman syndrome. ( 18315655 )
2008
307
Angelman syndrome: clinical findings and follow-up data of 14 patients. ( 18664077 )
2008
308
Comments on a case report of Angelman syndrome anaesthesia. ( 18821896 )
2008
309
Epilepsy in Angelman syndrome. ( 17904873 )
2008
310
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man. ( 18378203 )
2008
311
A Drosophila model for Angelman syndrome. ( 18701717 )
2008
312
Long-standing fever and Angelman syndrome: report of two cases. ( 18416709 )
2008
313
Angelman syndrome caused by an identical familial 1,487-kb deletion. ( 17152063 )
2007
314
Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome. ( 17019625 )
2007
315
C15orf2 and a novel noncoding transcript from the Prader- Willi/Angelman syndrome region show monoallelic expression in fetal brain. ( 17337158 )
2007
316
Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation. ( 17259980 )
2007
317
Prevalence of Angelman syndrome amongst referrals with epilepsy and developmental delay. ( 17676602 )
2007
318
Genetic engineering cures mice of neurological deficits: prospects for treating Angelman syndrome. ( 17559342 )
2007
319
Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile? ( 17537073 )
2007
320
Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes. ( 17415598 )
2007
321
Angelman syndrome and hypothyroidism - coincidence or unique correlation? ( 17984955 )
2007
322
Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes. ( 17095305 )
2007
323
Angelman syndrome revisited. ( 17848870 )
2007
324
Unraveling the mechanisms of Angelman Syndrome. ( 17318219 )
2007
325
Molecular epigenetics of Angelman syndrome. ( 17347796 )
2007
326
Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes. ( 17890436 )
2007
327
Lamotrigine effect on GABA transmission in Angelman syndrome? ( 17692055 )
2007
328
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. ( 17522620 )
2007
329
Screening of Prader-Willi syndrome and Angelman syndrome in school children with moderate to profound mental retardation in southern Taiwan. ( 17626606 )
2007
330
Cryptic duplication of 12q24.33 --&amp;gt; qter in a child with Angelman syndrome-simultaneous occurrence of two unrelated cytogenetic events. ( 17394213 )
2007
331
Bone mineral density in angelman syndrome. ( 18021922 )
2007
332
Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment. ( 17268193 )
2007
333
Unique retrotransposon LINE-1 distribution at the Prader-Willi Angelman syndrome locus. ( 17932619 )
2007
334
Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome. ( 17009341 )
2006
335
Atypical cases of Angelman syndrome. ( 17036311 )
2006
336
Environmental influences on the behavioral phenotype of Angelman syndrome. ( 16968140 )
2006
337
Mouse imprinting defect mutations that model Angelman syndrome. ( 16397868 )
2006
338
Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations. ( 16183798 )
2006
339
Robust, easy, and dose-sensitive methylation test for the diagnosis of Prader-Willi and Angelman syndromes. ( 17020468 )
2006
340
Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay. ( 16740422 )
2006
341
Effects of social stimuli on laughing and smiling in young children with Angelman syndrome. ( 17029501 )
2006
342
Sensory processing patterns in persons with Angelman syndrome. ( 16915878 )
2006
343
A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects. ( 16368707 )
2006
344
Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome. ( 16574761 )
2006
345
[From the clinical to the genetic diagnosis of Prader-Willi and Angelman syndromes]. ( 16506135 )
2006
346
A long-term population-based clinical and morbidity profile of Angelman syndrome in Western Australia: 1953-2003. ( 16492624 )
2006
347
Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13. ( 16401744 )
2006
348
The behavioural phenotype of Angelman syndrome. ( 16316429 )
2006
349
Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented. ( 16906556 )
2006
350
Preferences in individuals with Angelman syndrome assessed by a modified Choice Assessment Scale. ( 16316430 )
2006
351
Atypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation. ( 16162432 )
2005
352
Angelman syndrome: need for further illumination in the theater of the happy puppet. ( 16372055 )
2005
353
Sleep breathing and periodic leg movement pattern in Angelman Syndrome: a polysomnographic study. ( 16213786 )
2005
354
Fast cerebellar oscillation associated with ataxia in a mouse model of Angelman syndrome. ( 15590147 )
2005
355
Sleep disturbances in Ube3a maternal-deficient mice modeling Angelman syndrome. ( 15921919 )
2005
356
A female with Angelman syndrome and unusual limb deformities. ( 15876517 )
2005
357
Novel paternally expressed intergenic transcripts at the mouse Prader-Willi/Angelman Syndrome locus. ( 15965783 )
2005
358
Asystole during outbursts of laughing in a child with Angelman syndrome. ( 16132273 )
2005
359
Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome. ( 16023557 )
2005
360
Notched delta, phenotype, and Angelman syndrome. ( 16093895 )
2005
361
Angelman syndrome: uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns. ( 16226874 )
2005
362
Strategies for preimplantation genetic diagnosis of Angelman syndrome caused by mutations in the UBE3A gene. ( 15901461 )
2005
363
Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples. ( 15805153 )
2005
364
Behavioral aspects of Angelman syndrome: a case control study. ( 15578589 )
2005
365
Relationship between severity of epilepsy and developmental outcome in Angelman syndrome. ( 15668047 )
2005
366
Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD. ( 15607424 )
2005
367
Narrowed abrogation of the Angelman syndrome critical interval on human chromosome 15 does not interfere with epigenotype maintenance in somatic cells. ( 15744456 )
2005
368
Germline mosaicism of a novel UBE3A mutation in Angelman syndrome. ( 16100729 )
2005
369
Sleep in individuals with Angelman syndrome: parent perceptions of patterns and problems. ( 15941362 )
2005
370
Pharmacologic evidence for abnormal thalamocortical functioning in GABA receptor beta3 subunit-deficient mice, a model of Angelman syndrome. ( 16393151 )
2005
371
[Angelman syndrome and intracranial aneurysm: fortuitous association or commune genetic predisposition?]. ( 15808434 )
2005
372
A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study. ( 15796127 )
2005
373
Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome. ( 15741136 )
2005
374
Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome. ( 15963670 )
2005
375
Electroclinical characteristics of seizures-comparing Prader--Willi syndrome with Angelman syndrome. ( 15668048 )
2005
376
Angelman syndrome: is there a characteristic EEG? ( 15668045 )
2005
377
Neurological aspects of the Angelman syndrome. ( 15668046 )
2005
378
Sleep disturbances in Angelman syndrome: a questionnaire study. ( 15130689 )
2004
379
Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. ( 15470370 )
2004
380
Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1). ( 15384094 )
2004
381
Sleep polygraphy in Angelman syndrome. ( 15003776 )
2004
382
Toxic hepatitis in a case of Angelman syndrome associated with Lennox-Gastaut syndrome. ( 15517829 )
2004
383
Angelman syndrome. ( 23377257 )
2004
384
UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis. ( 15054837 )
2004
385
Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS. ( 14981718 )
2004
386
Thelarche variant in a girl with Angelman syndrome. ( 15165676 )
2004
387
Just how happy is the happy puppet? An emotion signaling and kinship theory perspective on the behavioral phenotype of children with Angelman syndrome. ( 15288352 )
2004
388
Cognitive and adaptive behavior profiles of children with Angelman syndrome. ( 15213998 )
2004
389
Sleep problems in individuals with Angelman syndrome. ( 15176919 )
2004
390
From electrophysiology to chromatin: a bottom-up approach to Angelman syndrome. ( 15659843 )
2004
391
Motor impairments, neurological signs, and developmental level in individuals with Angelman syndrome. ( 15077701 )
2004
392
Autism in Angelman syndrome: implications for autism research. ( 15521981 )
2004
393
Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein. ( 15263005 )
2004
394
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. ( 15014980 )
2004
395
Autism in Angelman syndrome: an exploration of comorbidity. ( 15165432 )
2004
396
Postural rhythmic muscle bursting activity in Angelman syndrome. ( 15275702 )
2004
397
A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader-Willi syndrome, Angelman syndrome and duplication of 15q11.2-q13 in a single family: Importance of differentiation from a paracentric inversion. ( 15039970 )
2004
398
Angelman syndrome as a rare anaesthetic problem. ( 14996273 )
2004
399
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect. ( 15385437 )
2004
400
Communicative functioning in individuals with Angelman syndrome: a comparative study. ( 15513724 )
2004
401
Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR. ( 15684868 )
2004
402
Problems in detecting mosaic DNA methylation in Angelman syndrome. ( 14523374 )
2003
403
Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology. ( 12757356 )
2003
404
Gene symbol: UBE3A. Disease: Angelman syndrome. ( 12974277 )
2003
405
Angelman syndrome: difficulties in EEG pattern recognition and possible misinterpretations. ( 12887436 )
2003
406
Mouse models of Angelman syndrome, a neurodevelopmental disorder, display different brain regional GABA(A) receptor alterations. ( 12672542 )
2003
407
Angelman syndrome: a review of the clinical and genetic aspects. ( 12566516 )
2003
408
Clinical, cytogenetical and molecular analyses of Angelman syndrome. ( 12725589 )
2003
409
A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype. ( 12843333 )
2003
410
A quantitative polymerase chain reaction method for determining copy number within the Prader-Willi/Angelman syndrome critical region. ( 12791044 )
2003
411
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. ( 12668608 )
2003
412
Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. ( 14508708 )
2003
413
Angelman syndrome reviewed from a neurophysiological perspective. The UBE3A-GABRB3 hypothesis. ( 12973656 )
2003
414
Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection. ( 12549484 )
2003
415
Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. ( 12749060 )
2003
416
Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms. ( 14510623 )
2003
417
Retinochoroidal atrophy in two adult patients with Angelman syndrome. ( 12955768 )
2003
418
Reserpine responsive myoclonus and hyperpyrexia in a patient with Angelman syndrome. ( 12860512 )
2003
419
A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect. ( 12563398 )
2002
420
Adjunct diagnostic test for Angelman syndrome: the tuning fork response. ( 11977186 )
2002
421
Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15. ( 11836373 )
2002
422
Drowning as a cause of death in Angelman syndrome. ( 11806751 )
2002
423
A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction. ( 11836378 )
2002
424
Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect. ( 12205121 )
2002
425
Referral diagnosis of Prader-Willi syndrome and Angelman syndrome based on methylation-specific polymerase chain reaction. ( 12353341 )
2002
426
Effects of environmental events on smiling and laughing behavior in Angelman syndrome. ( 11966332 )
2002
427
Use of two FISH probes provides a cost-effective, simple protocol to exclude an imprinting centre defect in routine laboratory testing for suspected Prader-Willi and Angelman syndrome. ( 12668166 )
2002
428
Split-cord malformation in a girl with Angelman syndrome: a mere coincidence? ( 12124736 )
2002
429
Diagnostic testing for Prader-Willi syndrome and Angelman syndrome: a cost comparison. ( 12509717 )
2002
430
Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. ( 12210318 )
2002
431
No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome. ( 11977159 )
2002
432
The Prader-Willi syndrome and the Angelman syndrome. ( 12558108 )
2002
433
Communication profiles of individuals with Down's syndrome, Angelman syndrome and pervasive developmental disorder. ( 11851854 )
2002
434
Angelman syndrome methylation screening of 15q11-q13 in institutionalized individuals with severe mental retardation. ( 12215253 )
2002
435
Adjunct diagnostic test for Angelman syndrome: the tuning fork response. ( 12376950 )
2002
436
Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region. ( 12045206 )
2002
437
High-dose ethosuximide for epilepsy in Angelman syndrome: implication of GABA(A) receptor subunit. ( 11673606 )
2001
438
A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome. ( 11326269 )
2001
439
Late-treated phenylketonuria mimicking Angelman syndrome. ( 11754074 )
2001
440
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. ( 11283202 )
2001
441
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. ( 11543639 )
2001
442
Efficacy of different antiepileptic drugs in children with Angelman syndrome associated with 15q11-13 deletion: the Danish experience. ( 11665831 )
2001
443
Distinct phenotypes distinguish the molecular classes of Angelman syndrome. ( 11748306 )
2001
444
Disruption of the bipartite imprinting center in a family with Angelman syndrome. ( 11283796 )
2001
445
Levodopa responsive Parkinsonism in adults with Angelman Syndrome. ( 11535008 )
2001
446
Angelman syndrome: mimicking conditions and phenotypes. ( 11343340 )
2001
447
Levels of cognitive and linguistic development in Angelman syndrome: a study of 20 children. ( 11432411 )
2001
448
Distinct multi-joint control strategies in spastic diplegia associated with prematurity or Angelman syndrome. ( 11514244 )
2001
449
Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring. ( 11332942 )
2001
450
Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABA(A) receptor beta3 subunit deletions. ( 11198279 )
2001
451
Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation. ( 11078565 )
2000
452
Problem behaviors associated with 15q- Angelman syndrome. ( 10683706 )
2000
453
Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome. ( 10995513 )
2000
454
Phenotype in patients with Angelman syndrome. ( 10854104 )
2000
455
The imprinting box of the Prader-Willi/Angelman syndrome domain. ( 11101841 )
2000
456
Angelman syndrome in three adult patients with atypical presentation and severe neurological complications. ( 11140414 )
2000
457
An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family. ( 10982040 )
2000
458
Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome. ( 10737998 )
2000
459
Genetics of childhood disorders: XVI. Angelman syndrome: a failure to process. ( 10892237 )
2000
460
Ophthalmic manifestations of Angelman syndrome. ( 10951304 )
2000
461
Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control. ( 10712201 )
2000
462
A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction. ( 10733242 )
2000
463
Atypical features in Angelman syndrome due to imprinting defect of uniparental disomy of chromosome 15. ( 10832589 )
2000
464
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. ( 10905897 )
2000
465
Automatico-voluntary dissociation in Angelman syndrome. ( 10819698 )
2000
466
Effects of a low dose of melatonin on sleep in children with Angelman syndrome. ( 10392349 )
1999
467
Visual evoked potential evidence of albino-like chiasmal misrouting in a patient with Angelman syndrome with no ocular features of albinism. ( 10503922 )
1999
468
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients. ( 10196695 )
1999
469
Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome. ( 10465123 )
1999
470
A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect. ( 10482951 )
1999
471
Genetics of Angelman syndrome. ( 10364509 )
1999
472
Clinical characteristics of Angelman syndrome patients with a non-IC-deleted imprinting mutation. ( 10361990 )
1999
473
The spectrum of mutations in UBE3A causing Angelman syndrome. ( 9887341 )
1999
474
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. ( 10417280 )
1999
475
Transmission of Angelman syndrome by an affected mother. ( 11258627 )
1999
476
The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily. ( 9891052 )
1999
477
Case of apparent Gurrieri syndrome showing molecular findings of Angelman syndrome. ( 9916855 )
1999
478
Angelman syndrome: a review of clinical and genetic aspects. ( 10536901 )
1999
479
The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11-->q13. ( 10640832 )
1999
480
Distinctive pattern of behavioral functioning in Angelman syndrome. ( 10450464 )
1999
481
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. ( 9931342 )
1999
482
Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation. ( 9973277 )
1999
483
Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region. ( 10598802 )
1999
484
EEG--a valuable tool in early diagnosis of Angelman syndrome. ( 10927959 )
1999
485
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). ( 10332034 )
1999
486
Parental imprinting and Angelman syndrome. ( 10514831 )
1999
487
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling. ( 10424818 )
1999
488
Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene. ( 10507736 )
1999
489
Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction. ( 10450868 )
1999
490
A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp. ( 10647904 )
1999
491
Psychosocial problems, coping strategies, and the need for information of parents of children with Prader-Willi syndrome and Angelman syndrome. ( 10865686 )
1999
492
Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype. ( 10563486 )
1999
493
Diagnosis of Angelman syndrome: clinical and EEG criteria. ( 10413015 )
1999
494
Confirmation of Angelman syndrome in a boy previously reported as having Becker muscular dystrophy and severe mental retardation. ( 10592081 )
1999
495
GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man. ( 10515160 )
1999
496
Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria. ( 10647895 )
1999
497
Angelman syndrome without detectable chromosome 15q11-13 anomaly: clinical study of familial and isolated cases. ( 9508247 )
1998
498
Imprinting in Prader-Willi and Angelman syndromes. ( 9613204 )
1998
499
Adverse effects of vigabatrin in Angelman syndrome. ( 9821987 )
1998
500
Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome. ( 9792887 )
1998
501
Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q. ( 9831341 )
1998
502
A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes. ( 9643288 )
1998
503
Angelman syndrome: how many genes to remain silent? ( 10732796 )
1998
504
Angelman syndrome: correlations between epilepsy phenotypes and genotypes. ( 9546330 )
1998
505
Normal growth in Angelman syndrome due to paternal UPD. ( 9630080 )
1998
506
Parental view of epilepsy in Angelman syndrome: a questionnaire study. ( 10193256 )
1998
507
Angelman syndrome: are the estimates too low? ( 9856568 )
1998
508
Genetic counseling in Angelman syndrome: gonadal mosaicism. ( 9714017 )
1998
509
UBE3A &amp;quot;mutations&amp;quot; in two unrelated and phenotypically different Angelman syndrome patients. ( 9600250 )
1998
510
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. ( 9634532 )
1998
511
Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status. ( 9733292 )
1998
512
Atypical molecular findings identify limits of technical screening tests for Prader-Willi and Angelman syndrome diagnoses. ( 9677058 )
1998
513
Mutation analysis of UBE3A in Angelman syndrome patients. ( 9585605 )
1998
514
Potential pitfall in Prader-Willi syndrome and Angelman syndrome molecular diagnosis. ( 9880230 )
1998
515
Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes. ( 9730612 )
1998
516
Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome. ( 9763493 )
1998
517
Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome, and control subjects. ( 9843050 )
1998
518
Prader-Willi and Angelman syndromes. Disorders of genomic imprinting. ( 9556704 )
1998
519
Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome. ( 9605586 )
1998
520
Genetic counseling in Angelman syndrome: the challenges of multiple causes. ( 9557895 )
1998
521
Fishing out the Angelman syndrome gene. ( 9055853 )
1997
522
Manifestations in institutionalised adults with Angelman syndrome due to deletion. ( 9182785 )
1997
523
Angelman syndrome assessed by neurological and molecular cytogenetic investigations. ( 9044396 )
1997
524
Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. ( 9288087 )
1997
525
Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome. ( 9017532 )
1997
526
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method. ( 9147641 )
1997
527
Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman syndromes. ( 9629378 )
1997
528
UBE3A/E6-AP mutations cause Angelman syndrome. ( 8988171 )
1997
529
The elusive Angelman syndrome critical region. ( 9321755 )
1997
530
Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome. ( 9245988 )
1997
531
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. ( 8988172 )
1997
532
Genotype and phenotype in Angelman syndrome caused by paternal UPD 15. ( 9188675 )
1997
533
Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes. ( 9237260 )
1997
534
Angelman syndrome caused by loss of a marker chromosome: cytogenetic and fluorescence in situ hybridization analysis. ( 9460799 )
1997
535
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. ( 9288101 )
1997
536
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. ( 9110176 )
1997
537
Evolution of epilepsy and EEG findings in Angelman syndrome. ( 9048672 )
1997
538
Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy. ( 9152844 )
1997
539
Unexpected familial recurrence in Angelman syndrome. ( 9188662 )
1997
540
Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families. ( 9279757 )
1997
541
The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. ( 9288088 )
1997
542
Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method. ( 9415690 )
1997
543
Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3. ( 9042916 )
1997
544
A candidate model for Angelman syndrome in the mouse. ( 9195990 )
1997
545
Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene? ( 8644742 )
1996
546
Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy. ( 8989460 )
1996
547
An Angelman syndrome clinic: report on 24 patients. ( 8860380 )
1996
548
Molecular analysis of an extra inv dup(15)(q13) chromosome in two patients with Angelman syndrome. ( 8872034 )
1996
549
Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. ( 8933339 )
1996
550
Angelman syndrome in an inbred family. ( 8786067 )
1996
551
Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions. ( 8958335 )
1996
552
Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN. ( 8725798 )
1996
553
Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography. ( 8698070 )
1996
554
Angelman syndrome in adulthood. ( 9072912 )
1996
555
Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. ( 8929945 )
1996
556
A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation. ( 8872042 )
1996
557
Genes for Prader Willi syndrome/Angelman syndrome and fragile X syndrome are homologous, with genetic imprinting and unstable trinucleotide repeats causing mental retardation, autism and aggression. ( 8910878 )
1996
558
Unilateral cleft lip in a boy with Angelman syndrome. ( 8773903 )
1996
559
Autism in Angelman syndrome: a population-based study. ( 8703225 )
1996
560
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. ( 7611294 )
1995
561
Angelman syndrome: validation of molecular cytogenetic analysis of chromosome 15q11-q13 for deletion detection. ( 7747771 )
1995
562
The genomic sequence for Prader-Willi/Angelman syndromes' loci of human is apparently conserved in the great apes. ( 7666455 )
1995
563
Clinical profile of Angelman syndrome at different ages. ( 7625442 )
1995
564
Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county. ( 7573182 )
1995
565
Behaviour problems in Angelman syndrome. ( 7787388 )
1995
566
FISH analysis in Prader-Willi and Angelman syndrome patients. ( 7625450 )
1995
567
Angelman syndrome at an older age. ( 7677166 )
1995
568
Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype. ( 7778602 )
1995
569
Sex-specific meiotic recombination in the Prader--Willi/Angelman syndrome imprinted region. ( 7633438 )
1995
570
DNA methylation pattern in Angelman syndrome. ( 8655072 )
1995
571
Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics. ( 7762584 )
1995
572
Electroclinical diagnosis of Angelman syndrome: a study of 7 cases. ( 7762767 )
1995
573
Deletion involving D15S113 in a mother and son without Angelman syndrome: refinement of the Angelman syndrome critical deletion region. ( 7702085 )
1995
574
Angelman syndrome. ( 8521718 )
1995
575
On the prevalence of Angelman syndrome. ( 8599374 )
1995
576
Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13. ( 7645601 )
1995
577
Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation. ( 7625452 )
1995
578
High resolution chromosome analysis and fluorescence in situ hybridization in patients referred for Prader-Willi or Angelman syndrome. ( 7604853 )
1995
579
Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb. ( 7987324 )
1994
580
Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications. ( 8178816 )
1994
581
Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome. ( 8168819 )
1994
582
Angelman syndrome in three siblings: genetic model of epilepsy associated with chromosomal DNA deletion of the GABAA receptor. ( 7807743 )
1994
583
Recombination model for generation of a submicroscopic deletion in familial Angelman syndrome. ( 8162058 )
1994
584
The critical region for Angelman syndrome lies between D15S122 and D15S113. ( 7864058 )
1994
585
The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2. ( 7761348 )
1994
586
Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? ( 8030667 )
1994
587
Angelman syndrome and vermian cyst. ( 7802023 )
1994
588
Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome. ( 7977469 )
1994
589
Precocious puberty in a case with probable Angelman syndrome. ( 7943614 )
1994
590
Familial Angelman syndrome with a crossover in the critical deletion region. ( 7810569 )
1994
591
Two Prader-Willi/Angelman syndrome loci present in an isodicentric marker chromosome. ( 7521122 )
1994
592
Physical mapping studies at D15S10: implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13. ( 8188222 )
1994
593
Molecular and clinical study of 61 Angelman syndrome patients. ( 7802001 )
1994
594
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. ( 8326502 )
1993
595
Hypopigmentation in Angelman syndrome. ( 8494033 )
1993
596
Angelman syndrome. ( 8376719 )
1993
597
Characterization of a DNA sequence family in the Prader-Willi/Angelman syndrome chromosome region in 15q11-q13. ( 8486372 )
1993
598
Molecular mechanisms in Angelman syndrome: a survey of 93 patients. ( 7905534 )
1993
599
Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. ( 7684188 )
1993
600
Angelman Syndrome ( 20301323 )
1993
601
Novel patterns of inheritance of genetic disease are illustrated by the Angelman syndrome. ( 8326891 )
1993
602
Angelman syndrome. ( 8461912 )
1993
603
Linkage analysis in familial Angelman syndrome. ( 8317476 )
1993
604
Molecular study of chromosome 15 in 22 patients with Angelman syndrome. ( 8094063 )
1993
605
Mental retardation, ataxia, seizures, dysmorphia, and hydrocephaly in two sibs. Angelman syndrome or new syndrome. ( 8357566 )
1993
606
[The GABAA receptor beta 3-subunit gene (GABRB3) as a candidate responsible for central nerve disturbances in Angelman syndrome (AS)]. ( 8411721 )
1993
607
Inheritance of parental chromosomes 15 in Angelman syndrome--implications for the family. ( 8471216 )
1993
608
Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination. ( 8462978 )
1993
609
Regional cerebral blood flow in Angelman syndrome. ( 8370386 )
1993
610
Papers presented at the 2nd North American Conference on Angelman Syndrome. Orlando, Florida, August 1-4, 1991. ( 8098582 )
1993
611
High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients. ( 8389098 )
1993
612
Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome. ( 8266996 )
1993
613
Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient. ( 8364575 )
1993
614
Cytogenetic and molecular analysis in Angelman syndrome. ( 8098583 )
1993
615
Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome. ( 8456836 )
1993
616
Communication, cognition, and social interaction in the Angelman syndrome. ( 8494032 )
1993
617
Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression. ( 1338769 )
1992
618
Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome. ( 1740313 )
1992
619
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. ( 1538725 )
1992
620
A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes. ( 1608955 )
1992
621
Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome. ( 1360768 )
1992
622
Prader-Willi or Angelman syndrome in familial 15q11----q13 deletion of maternal origin? ( 1733842 )
1992
623
Epilepsy in Angelman syndrome associated with chromosome 15q deletion. ( 1464268 )
1992
624
The mouse pink-eyed dilution gene: association with human Prader- Willi and Angelman syndromes. ( 1509264 )
1992
625
Angelman syndrome in three siblings: characteristic epileptic seizures and EEG abnormalities. ( 1464267 )
1992
626
A combined behavioral/pharmacological treatment of sleep-wake schedule disorder in Angelman syndrome. ( 1506469 )
1992
627
Angelman syndrome. ( 1619637 )
1992
628
Deletion of 15q12 in Angelman syndrome: report of 3 new cases. ( 1486699 )
1992
629
The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito. ( 1611213 )
1992
630
Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome. ( 1360787 )
1992
631
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome. ( 1362220 )
1992
632
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. ( 1363801 )
1992
633
Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene. ( 1346439 )
1992
634
A genetic model for the Prader-Willi syndrome and its implication for Angelman syndrome. ( 1427794 )
1992
635
Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13. ( 1362225 )
1992
636
Angelman syndrome: clinical profile. ( 1634750 )
1992
637
Diagnosis of Angelman syndrome in infants. ( 2012134 )
1991
638
On the genetic imprinting suggested in Angelman syndrome. ( 1877632 )
1991
639
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. ( 1985457 )
1991
640
DNA deletion and its parental origin in Angelman syndrome patients. ( 1683160 )
1991
641
Alpha-fetoprotein in Angelman syndrome. ( 1707838 )
1991
642
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. ( 1867202 )
1991
643
Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. ( 2309781 )
1990
644
Cytogenetic and molecular study of Angelman syndrome. ( 2309778 )
1990
645
Partial expression of Angelman syndrome in mother most likely to be due to mosaicism involving both somatic and germline cells. ( 2363443 )
1990
646
Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences. ( 2309780 )
1990
647
Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. ( 1971993 )
1990
648
On the parental origin of the deletion in Angelman syndrome. ( 2777263 )
1989
649
Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons. ( 2786338 )
1989
650
Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother. ( 2729353 )
1989
651
Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry. ( 2774001 )
1989
652
Is Angelman syndrome an alternate result of del(15)(q11q13)? ( 3688021 )
1987
653
The Angelman syndrome in two brothers. ( 7180875 )
1982

Variations for Angelman Syndrome

ClinVar genetic disease variations for Angelman Syndrome:

6
(showing 403, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 UBE3A UBE3A, 4-BP DUP, EX10, GAGG duplication Pathogenic
2 UBE3A UBE3A, 5-BP DUP duplication Pathogenic
3 UBE3A UBE3A, IVS9, A-G, -8 single nucleotide variant Pathogenic
4 UBE3A UBE3A, 2-BP DEL, 1344GT deletion Pathogenic
5 UBE3A NM_130838.1(UBE3A): c.1249C> T (p.Arg417Ter) single nucleotide variant Pathogenic rs111033594 GRCh37 Chromosome 15, 25616012: 25616012
6 UBE3A NM_130838.1(UBE3A): c.1249C> T (p.Arg417Ter) single nucleotide variant Pathogenic rs111033594 GRCh38 Chromosome 15, 25370865: 25370865
7 UBE3A NM_130838.1(UBE3A): c.2304G> A (p.Trp768Ter) single nucleotide variant Pathogenic rs111033595 GRCh37 Chromosome 15, 25585366: 25585366
8 UBE3A NM_130838.1(UBE3A): c.2304G> A (p.Trp768Ter) single nucleotide variant Pathogenic rs111033595 GRCh38 Chromosome 15, 25340219: 25340219
9 UBE3A NM_130838.1(UBE3A): c.316A> C (p.Thr106Pro) single nucleotide variant Pathogenic rs111033596 GRCh37 Chromosome 15, 25616945: 25616945
10 UBE3A NM_130838.1(UBE3A): c.316A> C (p.Thr106Pro) single nucleotide variant Pathogenic rs111033596 GRCh38 Chromosome 15, 25371798: 25371798
11 UBE3A NM_130838.1(UBE3A): c.389T> C (p.Ile130Thr) single nucleotide variant Pathogenic rs111033597 GRCh37 Chromosome 15, 25616872: 25616872
12 UBE3A NM_130838.1(UBE3A): c.389T> C (p.Ile130Thr) single nucleotide variant Pathogenic rs111033597 GRCh38 Chromosome 15, 25371725: 25371725
13 UBE3A UBE3A, 4-BP DEL, 3093AAGA deletion Pathogenic
14 UBE3A UBE3A, 2-BP DEL, 1930AG deletion Pathogenic
15 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh37 Chromosome X, 153296806: 153296806
16 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh38 Chromosome X, 154031355: 154031355
17 MECP2 NM_004992.3(MECP2): c.167_168delCC (p.Pro56Argfs) deletion Pathogenic rs267608434 GRCh37 Chromosome X, 153297867: 153297868
18 MECP2 NM_004992.3(MECP2): c.167_168delCC (p.Pro56Argfs) deletion Pathogenic rs267608434 GRCh38 Chromosome X, 154032416: 154032417
19 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh37 Chromosome X, 153296399: 153296399
20 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh38 Chromosome X, 154030948: 154030948
21 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh37 Chromosome X, 153296363: 153296363
22 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh38 Chromosome X, 154030912: 154030912
23 MECP2 NM_004992.3(MECP2): c.423C> G (p.Tyr141Ter) single nucleotide variant Pathogenic rs61748396 GRCh37 Chromosome X, 153296856: 153296856
24 MECP2 NM_004992.3(MECP2): c.423C> G (p.Tyr141Ter) single nucleotide variant Pathogenic rs61748396 GRCh38 Chromosome X, 154031405: 154031405
25 UBE3A UBE3A, 15-BP DEL/7-BP INS, NT3240 indel Pathogenic
26 MECP2 NM_004992.3(MECP2): c.806delG (p.Gly269Alafs) deletion Pathogenic rs61750241 GRCh37 Chromosome X, 153296473: 153296473
27 MECP2 NM_004992.3(MECP2): c.806delG (p.Gly269Alafs) deletion Pathogenic rs61750241 GRCh38 Chromosome X, 154031022: 154031022
28 UBE3A NM_130838.1(UBE3A): c.1547_1548delGGinsTGCTAGACAA (p.Arg516Leufs) indel Pathogenic rs398124438 GRCh37 Chromosome 15, 25615713: 25615714
29 UBE3A NM_130838.1(UBE3A): c.1547_1548delGGinsTGCTAGACAA (p.Arg516Leufs) indel Pathogenic rs398124438 GRCh38 Chromosome 15, 25370566: 25370567
30 UBE3A NM_130838.1(UBE3A): c.2503_2506delCTTA (p.Leu835Lysfs) deletion Pathogenic rs398124440 GRCh37 Chromosome 15, 25584337: 25584340
31 UBE3A NM_130838.1(UBE3A): c.2503_2506delCTTA (p.Leu835Lysfs) deletion Pathogenic rs398124440 GRCh38 Chromosome 15, 25339190: 25339193
32 UBE3A NM_130838.1(UBE3A): c.362_363delAG (p.Glu121Glyfs) deletion Pathogenic rs587780571 GRCh37 Chromosome 15, 25616898: 25616899
33 UBE3A NM_130838.2(UBE3A): c.403dup (p.Ser135Phefs) duplication Pathogenic rs587780572 GRCh37 Chromosome 15, 25616858: 25616858
34 UBE3A NM_130838.1(UBE3A): c.547delG (p.Asp183Thrfs) deletion Pathogenic rs587780573 GRCh37 Chromosome 15, 25616714: 25616714
35 UBE3A NM_130838.1(UBE3A): c.547delG (p.Asp183Thrfs) deletion Pathogenic rs587780573 GRCh38 Chromosome 15, 25371567: 25371567
36 UBE3A NM_130838.1(UBE3A): c.312_315delCTTA (p.Tyr104Terfs) deletion Pathogenic rs587780570 GRCh37 Chromosome 15, 25616946: 25616949
37 UBE3A NM_130838.1(UBE3A): c.362_363delAG (p.Glu121Glyfs) deletion Pathogenic rs587780571 GRCh38 Chromosome 15, 25371751: 25371752
38 UBE3A NM_130838.2(UBE3A): c.580dup (p.Ser194Lysfs) duplication Pathogenic rs587780574 GRCh38 Chromosome 15, 25371534: 25371534
39 UBE3A NM_130838.2(UBE3A): c.580dup (p.Ser194Lysfs) duplication Pathogenic rs587780574 GRCh37 Chromosome 15, 25616681: 25616681
40 UBE3A NM_130838.1(UBE3A): c.688G> T (p.Glu230Ter) single nucleotide variant Pathogenic rs587780575 GRCh38 Chromosome 15, 25371426: 25371426
41 UBE3A NM_130838.1(UBE3A): c.688G> T (p.Glu230Ter) single nucleotide variant Pathogenic rs587780575 GRCh37 Chromosome 15, 25616573: 25616573
42 UBE3A NM_130838.1(UBE3A): c.717T> A (p.Tyr239Ter) single nucleotide variant Pathogenic rs587780576 GRCh38 Chromosome 15, 25371397: 25371397
43 UBE3A NM_130838.1(UBE3A): c.717T> A (p.Tyr239Ter) single nucleotide variant Pathogenic rs587780576 GRCh37 Chromosome 15, 25616544: 25616544
44 UBE3A NM_130838.2(UBE3A): c.403dup (p.Ser135Phefs) duplication Pathogenic rs587780572 GRCh38 Chromosome 15, 25371711: 25371711
45 UBE3A NM_130838.1(UBE3A): c.99delC (p.Cys34Valfs) deletion Pathogenic rs587780565 GRCh38 Chromosome 15, 25375667: 25375667
46 UBE3A NM_130838.1(UBE3A): c.99delC (p.Cys34Valfs) deletion Pathogenic rs587780565 GRCh37 Chromosome 15, 25620814: 25620814
47 UBE3A NM_130838.2(UBE3A): c.199_202dup (p.Gly68Glufs) duplication Pathogenic rs587780566 GRCh38 Chromosome 15, 25375564: 25375567
48 UBE3A NM_130838.2(UBE3A): c.199_202dup (p.Gly68Glufs) duplication Pathogenic rs587780566 GRCh37 Chromosome 15, 25620711: 25620714
49 UBE3A NM_130838.1(UBE3A): c.263_264delTA (p.Ile88Lysfs) deletion Pathogenic rs587780567 GRCh38 Chromosome 15, 25375502: 25375503
50 UBE3A NM_130838.1(UBE3A): c.263_264delTA (p.Ile88Lysfs) deletion Pathogenic rs587780567 GRCh37 Chromosome 15, 25620649: 25620650
51 UBE3A NM_130838.2(UBE3A): c.275dup (p.Lys93Glufs) duplication