993:
892:(i.e, pointing to an object) is the most commonly used form of non-symbolic communication in AS, followed by physically manipulating others (such as moving a caregiver's hand to a specific object or guiding a person to a new location) and non-speech vocalizations. Some are able to use symbolic communication such as signing, though the prevalence of this ability is related to both genetic etiology and epilepsy status, with non-deletion etiologies without epilepsy showing the highest prevalence of symbolic communication skills. People with AS tend to have much higher receptive language abilities than expressive; recent studies have shown that patients with AS have typical auditory brain region responses to speech but atypical memory responses, suggesting that word meaning recall is delayed or processed differently in AS. This may be caused by the altered cortical morphology seen in AS in the
60:
1025:], circa 1964) three handicapped children were admitted at various times to my children's ward in England. They had a variety of disabilities and although at first sight they seemed to be suffering from different conditions I felt that there was a common cause for their illness. The diagnosis was purely a clinical one because in spite of technical investigations which today are more refined I was unable to establish scientific proof that the three children all had the same handicap. In view of this I hesitated to write about them in the medical journals. However, when on holiday in Italy I happened to see an oil painting in the
941:
disorders. Often overlooked is the contribution of the poor sleep patterns to the frequency and/or severity of the seizures. Medication may be worthwhile to help deal with this issue and improve the prognosis with respect to seizures and sleep. Also noteworthy are the reports that the frequency and severity of seizures temporarily escalate in pubescent
Angelman syndrome girls, but do not seem to affect long-term health.The facial features remain recognizable with age, but many adults with AS look remarkably youthful for their age.
930:
profoundly affected. Early and continued participation in physical, occupational (related to the development of fine-motor control skills), and communication (speech) therapies are believed to significantly improve the prognosis (in the areas of cognition and communication) of individuals affected by AS. Further, the specific genetic mechanism underlying the condition is thought to correlate to the general prognosis of the affected person. On one end of the spectrum, a mutation to the
852:
868:
to promote sleep in a condition which often affects sleep patterns. Mild laxatives are also used frequently to encourage regular bowel movements. Additionally, among a cohort of 163 individuals with AS, ranitidine was shown to be the most frequently prescribed medication for treating gastroesophageal
929:
The severity of the symptoms associated with
Angelman syndrome varies significantly across the population of those affected. Some speech and a greater degree of self-care are possible among the least profoundly affected. Walking and the use of simple sign language may be beyond the reach of the more
1033:
called ... a Boy with a Puppet. The boy's laughing face and the fact that my patients exhibited jerky movements gave me the idea of writing an article about the three children with a title of Puppet
Children. It was not a name that pleased all parents but it served as a means of combining the three
979:
Though the prevalence of
Angelman syndrome is not precisely known, there are some estimates. The best data available are from studies of school age children, ages 6–13 years, living in Sweden and from Denmark where the diagnosis of AS children in medical clinics was compared to an 8-year period of
700:
patterns are seen in these patients. The most common pattern is a very large amplitude 2–3 Hz rhythm most prominent in prefrontal leads. Next most common is a symmetrical 4–6 Hz high voltage rhythm. The third pattern, 3–6 Hz activity punctuated by spikes and sharp waves in occipital
970:
if it is present. The affectionate nature may also persist into adult life where it can pose a problem socially, but this problem is not insurmountable. People with
Angelman syndrome appear to have a reduced but near-normal life expectancy, dying on average 10 to 15 years earlier than the general
876:
Occupational therapists can contribute to the development and augmentation of non-verbal communication skills by addressing the foundational skills such as finger isolation, motor planning, hand-eye coordination, spatial awareness, and refining gestures. This is important because individuals with
965:
Dressing skills are variable and usually limited to items of clothing without buttons or zippers. Most adults can eat with a knife or spoon and fork, and can learn to perform simple household tasks. Particular problems which have arisen in adults are a tendency to obesity (more in females), and
884:
Occupational therapists can assist individuals with
Angelman syndrome with many other skills as well. Many individuals with Angelman syndrome also have difficulty processing sensory information and responding appropriately to sensory stimuli. Occupational therapists can work together with these
940:
The clinical features of
Angelman syndrome alter with age. As adulthood approaches, hyperactivity and poor sleep patterns improve. The seizures decrease in frequency and often cease altogether and the EEG abnormalities are less obvious. Medication is typically advisable to those with seizure
2563:
346:, limited to no functional speech, balance and movement problems, seizures, and sleep problems. Children usually have a happy personality and have a particular interest in water. The symptoms generally become noticeable by one year of age.
1015:, England, first reported three children with this condition in 1965. Angelman later described his choice of the title "Puppet Children" to describe these cases as being related to an oil painting he had seen while vacationing in Italy:
456:
Behavioral characteristics of the following types: any combination of atypical frequent laughter/smiling; atypically happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric behavior; short
2807:
Petersen MB, Brøndum-Nielsen K, Hansen LK, Wulff K (1995). "Clinical, cytogenetic, and molecular diagnosis of
Angelman syndrome: estimated prevalence rate in a Danish county; the disorder predominantly affects Anglo-Saxons".
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medications. However, there are difficulties in ascertaining the levels and types of anticonvulsant medications needed to establish control, because people with AS often have multiple types of seizures. Many families use
896:, a region of the brain involved in self-reflection and memory. Similarly, both adults and children with AS show a delay in processing speed in speech processing, and this should be accounted for during communication.
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The history of medicine is full of interesting stories about the discovery of illnesses. The saga of
Angelman's syndrome is one such story. It was purely by chance that nearly thirty years ago (e.g. [
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activity (~3 Hz) is greatly increased in AS relative to typically developing children, yet more pronounced in children with partial 15q deletions as opposed to those with etiologies principally affecting
2020:
Frohlich, Joel, Meghan Miller, Lynne M. Bird, Pilar Garces, Hannah
Purtell, Marius C. Hoener, Benjamin D. Philpot et al. "Electrophysiological phenotype in Angelman syndrome differs between genotypes."
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little patients into a single group. Later the name was changed to Angelman syndrome. This article was published in 1965 and after some initial interest lay almost forgotten until the early eighties.
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Case reports from the United States first began appearing in the medical literature in the early 1980s. In 1987, it was first noted that around half of the children with AS have a small piece of
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Diagnostic criteria for the disorder were initially established in 1995 in collaboration with the Angelman syndrome Foundation (US); these criteria underwent revision in 2005.
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is known to be imprinted within the hippocampus, cortex, thalamus, olfactory bulb, and cerebellum. Therefore, in these areas of the brain, a functioning maternal copy of
2561:, Buettelmann, Bernd; Cecere, Giuseppe & FASCHING, Bernhard et al., "New isoxazolyl ether derivatives as gaba a alpha5 pam", issued 2018-06-14
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is thought to be unaffected, as evidenced by a single reported case of a woman with Angelman syndrome conceiving a female child who also had Angelman syndrome.
2628:"Roche stopping testing of rugonersen to treat Angelman syndrome | Children in Phase 1 trial may move into monthslong extension study | Angelman Syndrome News"
888:
Expressive verbal communication is limited by AS, but many people with the disorder are able to learn non-verbal communication skills to express their needs.
1844:"Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader–Willi syndrome and Angelman syndrome"
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gene within this region on the maternal chromosome, loss of a different cluster of genes within the same region on the paternal chromosome causes PWS.
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2035:
Williams CA, Angelman H, Clayton-Smith J, et al. (1995). "Angelman syndrome: consensus for diagnostic criteria. Angelman syndrome Foundation".
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by day and some by night. Angelman syndrome is not a degenerative syndrome, and thus people with AS may improve their living skills with support.
649:
gene, the most common genetic defect leading to Angelman syndrome is a 5- to 7-Mb (megabase) maternal deletion in chromosomal region 15q11.2-q13.
5081:
4861:
3158:
721:. Theta activity (~5 Hz) is much greater in children with partial 15q deletions. Thus, delta activity appears to be chiefly reflective of
637:
gene is absent or not functioning normally. This can be due to genetic errors such as the deletion or mutation of a segment of chromosome 15,
877:
Angelman Syndrome who already possess some form of non-verbal communication have a much harder time adapting to changes in a new or existing
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gene on that chromosome. Occasionally it is due to the inheritance of two copies of chromosome 15 from the father and none from the mother (
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is thought to correlate to the least affected, whereas larger deletions on chromosome 15 are thought to correspond to the most affected.
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dysfunction with some modulation from other 15q genes, whereas theta activity may be an electrophysiological readout of genes beyond
692:(EEG) in AS is usually abnormal, more so than clinically expected. This EEG facilitates the differential diagnosis of AS, but is not
1123:
3436:
2070:
Williams CA, Beaudet AL, Clayton-Smith J, et al. (2006). "Angelman syndrome 2005: updated consensus for diagnostic criteria".
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3812:
3622:
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1321:
783:
3703:
3607:
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Magenis RE, Brown MG, Lacy DA, Budden S, LaFranchi S. (1987). "Is Angelman syndrome an alternate result of del(15)(q11q13)?".
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1812:
4670:
3713:
3257:
2115:
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Buntinx IM, Hennekam RC, Brouwer OF, et al. (March 1995). "Clinical profile of Angelman syndrome at different ages".
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5002:
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Steffenburg S, Gillberg CL, Steffenburg U, Kyllerman M (1996). "Autism in Angelman syndrome: a population-based study".
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gene, instead it is a mechanism aimed at improving various symptoms of AS such as learning, sleep, and seizure control.
403:
AS affects 1 in 12,000 to 20,000 people. Males and females are affected with equal frequency. It is named after British
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4955:
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3566:
1574:"Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study"
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leads, is associated with eye closure. Paroxysms of laughter have no relation to the EEG, ruling out this feature as a
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Speech impairment, no or minimal use of words; receptive and non-verbal communication skills higher than verbal ones
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1250:
Comprehensive Developmental Neuroscience: Neural Circuit Development and Function in the Heathy and Diseased Brain
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Unusual movements including fine tremors, jerky limb movements, hand flapping and a wide-based, stiff-legged gait.
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4692:
4473:
4416:
4006:
2150:
Leung HT, Ring H (January 2013). "Epilepsy in four genetically determined syndromes of intellectual disability".
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There is currently no approved cure available. The epilepsy can be controlled by the use of one or more types of
1947:
Dan, B., Angelman syndrome: Current understanding and research prospects. Epilepsia, 2009. 50(11): p. 2331–2339.
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during development. This gene is located within a region of chromosome 15 known as 15q11-q13 and is part of the
5101:
4966:
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4406:
4344:
3734:
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Coppus AM (2013). "People with intellectual disability: What do we know about adulthood and life expectancy?".
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Dagli AI, Mathews J, Williams CA (22 April 2021). Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE (eds.).
33:
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79:, wide mouth, and an apparently happy demeanor; hands with tapered fingers, abnormal creases and broad thumbs.
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The methylation test that is performed for Angelman syndrome looks for methylation on the gene's neighbor
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1959:"Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis"
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A history of delayed motor milestones and then later a delay in general development, especially of speech
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Seizures are a consequence, as is excessive laughter, which is a major hindrance to early diagnosis.
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2692:
Laan LA, den Boer AT, Hennekam RC, Renier WO, Brouwer OF (1996). "Angelman syndrome in adulthood".
2248:
Walz NC, Baranek GT (2006-07-01). "Sensory Processing Patterns in Persons With Angelman Syndrome".
1887:
Williams C (2005) "Neurological aspects of the Angelman syndrome" Brain & Development 27: 88–94
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385:
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17:
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Signs and symptoms of Angelman syndrome and their relative frequency in affected individuals are:
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2296:"Profiles of atypical sensory processing in Angelman, Cornelia de Lange and Fragile X syndromes"
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Cassidy SB, Dykens E (2000). "Prader–Willi and Angelman syndromes: sister imprinted disorders".
1181:
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1076:(2012) reflect on his daughter, who has Angelman syndrome. In the 2011 Philippine drama series
773:
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3232:
1245:
1045:
908:
350:
2917:
Dooley JM, Berg JM, Pakula Z, MacGregor DL. (1981). "The puppet-like syndrome of Angelman".
2403:"Typical and atypical neural mechanisms support spoken word processing in Angelman syndrome"
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individuals to improve their visual perceptual skills and increase their sensory awareness.
5020:
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8:
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Sidorov MS, Deck GM, Dolatshahi M, Thibert RL, Bird LM, Chu CJ, Philpot BD (2017-05-08).
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of about 1/20,000 and the Danish study showed a minimum AS prevalence of about 1/10,000.
373:, no functional version of the gene remains. Diagnosis is based on symptoms and possibly
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1752:"Angelman Syndrome: Insights into Genomic Imprinting and Neurodevelopmental Phenotypes"
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Didden R, Sigafoos J, Korzilius H, Baas A, Lancioni GE, O'Reilly MF, Curfs LM (2009).
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226:, limited to no functional speech, balance and movement problems, small head, seizures
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2603:"Recruitment Open for the Aldebaran Study of Alogabat – Angelman Syndrome Foundation"
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1082:, the titular character and main protagonist Budoy Maniego (played by Filipino actor
250:
205:
2450:
Du X, Wei L, Yang B, Long S, Wang J, Sun A, Jiang Y, Qiao Z, Wang H, Wang Y (2023).
2362:"Form and Function of Communicative Behaviors in Individuals with Angelman Syndrome"
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is sometimes used to encourage joint mobility and prevent stiffening of the joints.
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2845:"Angelman Syndrome in the Portrait of a Child With a Drawing by Giovanni F. Caroto"
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1860:
1843:
1658:"Identifying the ubiquitination targets of E6AP by orthogonal ubiquitin transfer"
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667:(PWS). While AS results from mutation, loss or abnormal imprinting involving the
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is a separate condition, caused by a similar loss of the father's chromosome 15.
397:
381:
374:
303:
290:
272:
256:
72:
2418:
1934:
1621:
Weeber E, Levenson J, Sweatt J (2002). "Molecular genetics of human cognition".
32:
For the rare genetic skeletal disorder sometimes called Engelmann syndrome, see
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1975:
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Laan LA, Vein AA (2005). "Angelman syndrome: is there a characteristic EEG?".
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in order to develop normally. In an individual with AS, however, the maternal
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2511:"Spoken language comprehension in children and adults with Angelman Syndrome"
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1984:
1918:
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Delayed, disproportionate growth in head circumference, usually resulting in
276:
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10.1002/(SICI)1096-8628(19961218)66:3<356::AID-AJMG21>3.0.CO;2-K
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Abnormal EEG, characteristic pattern with large amplitude slow-spike waves
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Preventive Management of Children with Congenital Anomalies and Syndromes
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Angelman syndrome is caused by the lack of expression of a gene known as
68:
2952:
Williams CA, Frias JL (1982). "The Angelman ("happy puppet") syndrome".
2452:"Cortical and subcortical morphological alteration in Angelman syndrome"
2320:
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680:, which is silenced by methylation on the maternal copy of the gene.
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393:
297:
1000:; the portrait motivated the initial naming of Angelman syndrome as
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to "chart progression of AS and as clinical outcome measures". Slow
645:. While Angelman syndrome can be caused by a single mutation in the
67:
A five-year-old girl with Angelman syndrome. Features shown include
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10.1002/1096-8628(200022)97:2<136::aid-ajmg5>3.0.co;2-v
915:) of the receptor. It does not involve replacing or activating the
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411:
358:
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242:
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2188:
Pearson E, Wilde L, Heald M, Royston R, Oliver C (November 2019).
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because they can communicate their needs much faster nonverbally.
369:). As the father's versions are inactivated by a process known as
4392:
4175:
3848:
1426:
Angelman H (1965). "'Puppet' Children: A report of three cases".
944:
621:. In certain areas of the developing brain, the paternal copy of
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2557:
996:"Boy with a Puppet" or "A child with a drawing", circa 1520, by
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An experimental treatment, currently in clinical development by
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1404:. Foundation For Angelman Syndrome Therapeutics. 2 August 2019
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Region 15q11-13 is implicated in both Angelman syndrome and
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may help with walking. Those affected have a nearly normal
186:
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McGraw-Hill Dictionary of Scientific & Technical Terms
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Angelman syndrome is due to a lack of function of part of
177:
142:
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3172:
2653:"Transmission of Angelman syndrome by an affected mother"
1021:
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and the fetus relies on the functioning maternal copy of
136:
104:
98:
3299:
Pervasive developmental disorder not otherwise specified
2400:
2366:
Journal of Applied Research in Intellectual Disabilities
2187:
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Characteristic facial appearance (but not in all cases).
361:. Most often it is due to a deletion or mutation of the
4652:
1841:
907:. Alogabat is a small molecule that acts as a positive
2190:"Communication in Angelman syndrome: a scoping review"
1749:
27:
Genetic disorder caused by a mutation of chromosome 15
1750:
Mabb AM, Judson MC, Zylka MJ, Philpot BD (May 2011).
189:
174:
154:
139:
119:
3023:
2842:
1715:
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about 45,000 births. The Swedish study showed an AS
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2843:Galassi FM, Armocida E, Rühli FJ (September 2016).
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148:
133:
113:
95:
3168:GeneReviews/NCBI/NIH/UW entry on Angelman syndrome
2895:. US: Angelman Syndrome Foundation. Archived from
1842:White HE, Durston VJ, Harvey JF, Cross NC (2006).
1540:. US: Angelman Syndrome Foundation. Archived from
801:Other conditions that can appear similar include:
5063:
2951:
2401:Key AP, Roth S, Jones D, Hunt-Hawkins H (2023).
2293:
755:The diagnosis of Angelman syndrome is based on:
477:Seizures, onset usually less than 3 years of age
4862:Leukoencephalopathy with vanishing white matter
1883:
1881:
1879:
1493:
869:reflux disease (GERD). Early intervention with
613:Typically, a fetus inherits a maternal copy of
610:have been identified as ubiquitination targets
2650:
1724:. Seattle: University of Washington, Seattle.
4788:
4638:
4567:46,XX testicular disorders of sex development
3813:
3188:
2508:
2449:
1798:
782:A deletion or inactivity on chromosome 15 by
380:No cure is available. Treatment is generally
3827:
2509:Key AP, Roth S, Venker C (11 October 2022).
2194:Developmental Medicine & Child Neurology
2063:
1876:
1462:
1429:Developmental Medicine & Child Neurology
1243:
708:EEG anomalies may be used as a quantitative
4844:Fragile X-associated tremor/ataxia syndrome
4389:Acute myeloblastic leukemia with maturation
2800:
2765:
2739:Developmental Disabilities Research Reviews
2685:
2300:Journal of Intellectual Disability Research
2247:
2152:Journal of Intellectual Disability Research
2106:
2028:
1469:. Cambridge University Press. p. 193.
1359:
1101:Characteristics of syndromic ASD conditions
464:
4795:
4781:
4645:
4631:
3820:
3806:
3740:Ritvo Autism and Asperger Diagnostic Scale
3195:
3181:
1655:
1421:
1419:
1396:
1394:
1357:
1355:
1353:
1351:
1349:
1347:
1345:
1343:
1341:
1339:
1304:
1302:
1300:
1298:
1296:
779:A happy disposition with frequent laughter
625:is inactivated through a process known as
453:of gait and/or tremulous movement of limbs
58:
3432:Avoidant/restrictive food intake disorder
2863:
2713:
2668:
2534:
2485:
2467:
2426:
2385:
2319:
2205:
2149:
1992:
1974:
1859:
1775:
1689:
1597:
1578:Molecular Genetics & Genomic Medicine
1502:. Elsevier Health Sciences. p. 244.
1294:
1292:
1290:
1288:
1286:
1284:
1282:
1280:
1278:
1276:
796:
338:and a specific facial appearance, severe
3437:Attention deficit hyperactivity disorder
2443:
2250:American Journal of Occupational Therapy
1896:
1711:
1709:
1425:
1373:National Organization for Rare Disorders
1136:on June 17, 2020 – via Lexico.com.
991:
850:
559:
443:Developmental delay, functionally severe
3623:Multiple complex developmental disorder
2456:Journal of Neurodevelopmental Disorders
1963:Journal of Neurodevelopmental Disorders
1416:
1391:
1336:
1086:) is diagnosed with Angelman syndrome.
784:array comparative genomic hybridization
14:
5082:Syndromes affecting the nervous system
5064:
3704:Autism Diagnostic Observation Schedule
2889:"Harry Angelman and the History of AS"
2736:
2243:
2241:
2183:
2181:
1273:
1055:
958:The majority of those with AS achieve
786:(aCGH) or by BACs-on-Beads technology.
547:Gastroesophageal reflux disease (GERD)
484:
449:Movement or balance disorder, usually
222:Delayed development, unusually happy,
5003:Multiple familial trichoepithelioma 1
4776:
4626:
3801:
3176:
2289:
2287:
2016:
2014:
2012:
1706:
1567:
1565:
1563:
1561:
1379:from the original on 13 November 2016
1209:
1207:
1118:
1116:
660:is essential for proper development.
429:
4671:Transient neonatal diabetes mellitus
2931:10.1001/archpedi.1981.02130310027010
2886:
2116:American Journal of Medical Genetics
1571:
1494:Kumar V, Abbas AK, Aster JC (2013).
1219:American Heritage Medical Dictionary
1147:
1145:
1143:
538:Excessive chewing/mouthing behaviors
535:Attraction to/fascination with water
532:Frequent drooling, protruding tongue
514:Uplifted, flexed arms during walking
437:
4502:Desmoplastic small-round-cell tumor
3454:Developmental coordination disorder
2394:
2352:
2294:Heald M, Adams D, Oliver C (2020).
2238:
2178:
1324:from the original on 27 August 2016
1039:Angelman quoted by Charles Williams
652:Specifically, the paternal copy of
24:
5097:Autosomal monosomies and deletions
4956:X-linked spinal muscular atrophy 2
2625:
2515:Journal of Communication Disorders
2284:
2009:
1656:Wang, Yiyang, et al. (2017).
1558:
1442:10.1111/j.1469-8749.1965.tb07844.x
1233:– via thefreedictionary.com.
1204:
1200:– via thefreedictionary.com.
1157:Merriam-Webster Medical Dictionary
1113:
951:begin at around the average age.
683:
25:
5118:
3714:Gilliam Asperger's disorder scale
3532:Fetal valproate spectrum disorder
3304:Childhood disintegrative disorder
3019:
1140:
826:Adenylosuccinate lyase deficiency
582:codes for a very selective E6-AP
388:are used in those with seizures.
4075:22q11.2 distal deletion syndrome
3284:Pervasive developmental disorder
2865:10.1001/jamapediatrics.2016.0581
2670:10.1097/00125817-199909000-00004
2378:10.1111/j.1468-3148.2009.00520.x
2164:10.1111/j.1365-2788.2011.01505.x
1496:"Genetic and Pediatric Diseases"
1483:from the original on 2017-11-05.
1170:– via Merriam-Webster.com.
164:
129:
91:
4474:Dermatofibrosarcoma protuberans
4417:Acute megakaryoblastic leukemia
4345:Anaplastic large-cell lymphoma
4007:Chromosome 5q deletion syndrome
2980:
2945:
2910:
2880:
2836:
2730:
2644:
2619:
2595:
2570:
2551:
2502:
2143:
1950:
1941:
1890:
1835:
1792:
1743:
1649:
1614:
1535:"Facts about Angelman syndrome"
1527:
1516:from the original on 2017-11-05
1487:
1456:
1050:chromosome 15q partial deletion
974:
511:Feeding problems during infancy
474:(absolute or relative) by age 2
4882:Posttranslational modification
4809:posttranslational modification
4761:Pseudopseudohypoparathyroidism
3735:Childhood Autism Spectrum Test
1911:10.1016/j.braindev.2003.09.013
1316:. Genetics Home Reference, US
1237:
1174:
13:
1:
5037:Multiple sulfatase deficiency
4916:3-Methylglutaconic aciduria 5
4197:Klinefelter syndrome (47,XXY)
3962:1q21.1 copy number variations
3709:Childhood Autism Rating Scale
3557:PTEN hamartoma tumor syndrome
3447:obsessive–compulsive disorder
3379:Pathological demand avoidance
3263:Societal and cultural aspects
2651:Lossie A, Driscoll D (1999).
2527:10.1016/j.jcomdis.2022.106272
1463:Wilson GN, Cooley WC (2000).
1318:National Institutes of Health
1106:
526:Wide mouth, wide-spaced teeth
523:Increased sensitivity to heat
4403:Acute promyelocytic leukemia
4359:Acute lymphoblastic leukemia
4051:17q12 microdeletion syndrome
3926:22q11.2 duplication syndrome
3904:16p11.2 duplication syndrome
2786:10.1016/0887-8994(96)00011-2
1861:10.1373/clinchem.2005.065086
1252:. Elsevier Inc. Chapter 32.
1011:, a pediatrician working in
924:
846:
750:
313:1 in 12,000 to 20,000 people
7:
4849:Premature ovarian failure 1
4693:Beckwith–Wiedemann syndrome
3970:1q21.1 duplication syndrome
3857:1q21.1 duplication syndrome
3699:Autism Diagnostic Interview
3469:Sensory processing disorder
3334:Autism and LGBTQ identities
2419:10.1016/j.bandl.2022.105215
1244:Urraca N, Reiter L (2013).
1089:
508:Hyperactive tendon reflexes
505:; suck/swallowing disorders
367:paternal uniparental disomy
10:
5123:
5107:Disorders causing seizures
4967:Johanson–Blizzard syndrome
3577:Tuberous sclerosis complex
3567:Smith–Lemli–Opitz syndrome
3542:MECP2 duplication syndrome
3522:Cornelia de Lange syndrome
3474:Global developmental delay
3202:
2469:10.1186/s11689-022-09469-3
1768:10.1016/j.tins.2011.04.001
1682:10.1038/s41467-017-01974-7
987:
418:, is generally considered
410:, who first described the
34:Camurati–Engelmann disease
31:
5029:
5011:
4972:Von Hippel–Lindau disease
4942:
4924:
4908:Creutzfeldt–Jakob disease
4888:
4881:
4815:
4747:
4724:
4707:
4688:
4679:
4661:
4545:
4516:Alveolar rhabdomyosarcoma
4438:
4367:
4297:
4284:
4275:
4251:XYYYY syndrome (49,XYYYY)
4217:XXXXY syndrome (49,XXXXY)
4212:XXXYY syndrome (49,XXXYY)
4174:
4156:
4142:
3951:
3844:
3835:
3774:
3748:
3722:
3691:
3656:Facilitated communication
3646:
3590:
3497:22q11.2 deletion syndrome
3487:
3422:
3319:
3276:
3210:
3108:
3027:
1976:10.1186/s11689-017-9195-8
1523:– via Google Books.
1269:– via Google Books.
1190:The McGraw-Hill Companies
1129:Oxford English Dictionary
998:Giovanni Francesco Caroto
353:, typically due to a new
309:
296:
286:
262:
249:
238:
234:Noticeable by 6–12 months
230:
216:
204:
83:
66:
57:
49:
44:
5047:Ehlers–Danlos syndrome 6
4757:Pseudohypoparathyroidism
3991:Wolf–Hirschhorn syndrome
3966:1q21.1 deletion syndrome
3829:Chromosome abnormalities
3730:Autism-spectrum quotient
3547:Neurofibromatosis type I
2632:angelmansyndromenews.com
1223:Houghton Mifflin Company
836:Phelan–McDermid syndrome
555:
465:Frequent (more than 80%)
414:in 1965. An older term,
386:Anti-seizure medications
344:developmental disability
330:that mainly affects the
4989:Deubiquitinating enzyme
4873:Retinitis pigmentosa 33
4827:Diamond–Blackfan anemia
4697:Silver–Russell syndrome
4375:Philadelphia chromosome
4246:XYYY syndrome (48,XYYY)
4207:XXXY syndrome (48,XXXY)
4202:XXYY syndrome (48,XXYY)
4087:22q13 deletion syndrome
3862:2q31.1 microduplication
3661:Lancet MMR autism fraud
3603:Critical autism studies
3502:22q13 deletion syndrome
3464:Intellectual disability
3414:Emotional dysregulation
3311:High-functioning autism
3001:10.1002/ajmg.1320280407
2966:10.1002/ajmg.1320110411
2822:10.1002/ajmg.1320600317
2129:10.1002/ajmg.1320560213
2049:10.1002/ajmg.1320560224
1623:Molecular Interventions
1572:Khan N (8 April 2019).
1500:Robbins Basic Pathology
617:and a paternal copy of
340:intellectual disability
224:intellectual disability
5072:Neurological disorders
4993:Machado–Joseph disease
4234:Pentasomy X (49,XXXXX)
4166:Turner syndrome (45,X)
4047:Smith–Magenis syndrome
4043:Miller–Dieker syndrome
3978:1p36 deletion syndrome
3671:Rapid prompting method
3613:Double empathy problem
3598:Autism rights movement
1064:'s poetry collections
1042:
1005:
856:
797:Differential diagnosis
565:
264:Differential diagnosis
5102:Learning disabilities
4738:Prader-Willi syndrome
4241:XYY syndrome (47,XYY)
4229:Tetrasomy X (48,XXXX)
4112:Prader–Willi syndrome
3756:Autism-related topics
3320:Associated conditions
2262:10.5014/ajot.60.4.472
2023:Biological Psychiatry
1899:Brain and Development
1662:Nature Communications
1402:"Common Misdiagnoses"
1017:
995:
854:
841:Prader–Willi syndrome
831:Pitt–Hopkins syndrome
821:Mowat–Wilson syndrome
665:Prader–Willi syndrome
563:
424:Prader–Willi syndrome
416:happy puppet syndrome
334:. Symptoms include a
281:Prader–Willi syndrome
4998:Aneurysmal bone cyst
4903:Huntington's disease
4333:Mantle cell lymphoma
4003:Cri du chat syndrome
3761:Fictional characters
3489:Associated syndromes
2626:MS MW (2023-06-28).
2084:10.1002/ajmg.a.31074
2072:Am. J. Med. Genet. A
1027:Castelvecchio Museum
690:electroencephalogram
5042:Hyperproinsulinemia
4898:Alzheimer's disease
4319:Follicular lymphoma
3638:Violence and autism
3424:Comorbid conditions
1718:"Angelman Syndrome"
1674:2017NatCo...8.2232W
1365:"Angelman Syndrome"
1310:"Angelman syndrome"
1246:"Angelman syndrome"
1215:"Angelman syndrome"
1182:"Angelman syndrome"
1153:"Angelman syndrome"
1124:"Angelman syndrome"
1056:Society and culture
485:Associated (20–80%)
255:Based on symptoms,
53:Angelman's syndrome
4839:Fragile X syndrome
4712:Myoclonic dystonia
4655:genomic imprinting
4558:Uniparental disomy
4553:Fragile X syndrome
4488:Myxoid liposarcoma
4340:t(11 CCND1:14 IGH)
4224:Trisomy X (47,XXX)
4102:genomic imprinting
3882:Distal trisomy 10q
3537:Fragile X syndrome
3344:Autistic catatonia
3109:External resources
2407:Brain and Language
2207:10.1111/dmcn.14257
1635:10.1124/mi.2.6.376
1629:(6): 376–91, 339.
1006:
953:Sexual development
857:
639:uniparental disomy
578:pathway. In fact,
566:
430:Signs and symptoms
371:genomic imprinting
5059:
5058:
5055:
5054:
4982:Angelman syndrome
4926:Protein targeting
4858:Initiation factor
4770:
4769:
4734:Angelman syndrome
4720:
4719:
4653:Disorders due to
4620:
4619:
4572:Marker chromosome
4541:
4540:
4434:
4433:
4271:
4270:
4138:
4137:
4108:Angelman syndrome
4063:DiGeorge syndrome
4031:Jacobsen syndrome
4019:Williams syndrome
3795:
3794:
3692:Diagnostic scales
3582:Williams syndrome
3507:Angelman syndrome
3389:Special interests
3354:Autistic meltdown
3294:Asperger syndrome
3159:Angelman syndrome
3154:
3153:
3134:Angelman Syndrome
2810:Am. J. Med. Genet
2751:10.1002/ddrr.1123
2694:Am. J. Med. Genet
2312:10.1111/jir.12702
2200:(11): 1266–1274.
2037:Am. J. Med. Genet
1221:(2007 ed.).
1096:List of syndromes
905:GABAA α5 receptor
890:Deictic gesturing
696:. Three distinct
541:Flat back of head
529:Sleep disturbance
438:Consistent (100%)
320:Angelman syndrome
317:
316:
251:Diagnostic method
45:Angelman syndrome
39:Medical condition
16:(Redirected from
5114:
5087:Syndromic autism
4886:
4885:
4797:
4790:
4783:
4774:
4773:
4686:
4685:
4647:
4640:
4633:
4624:
4623:
4563:XX male syndrome
4460:Synovial sarcoma
4337:Multiple myeloma
4305:Burkitt lymphoma
4295:
4294:
4282:
4281:
4185:other karyotypes
4154:
4153:
3936:Cat-eye syndrome
3842:
3841:
3822:
3815:
3808:
3799:
3798:
3787:Sensory friendly
3723:Screening scales
3572:Timothy syndrome
3479:Verbal Dyspraxia
3442:Anxiety disorder
3374:Nonverbal autism
3349:Autistic masking
3339:Autistic burnout
3197:
3190:
3183:
3174:
3173:
3025:
3024:
3013:
3012:
2984:
2978:
2977:
2949:
2943:
2942:
2914:
2908:
2907:
2905:
2904:
2884:
2878:
2877:
2867:
2849:
2840:
2834:
2833:
2804:
2798:
2797:
2769:
2763:
2762:
2734:
2728:
2727:
2717:
2689:
2683:
2682:
2672:
2648:
2642:
2641:
2639:
2638:
2623:
2617:
2616:
2614:
2613:
2607:www.angelman.org
2599:
2593:
2592:
2590:
2589:
2574:
2568:
2567:
2566:
2562:
2555:
2549:
2548:
2538:
2506:
2500:
2499:
2489:
2471:
2447:
2441:
2440:
2430:
2398:
2392:
2391:
2389:
2356:
2350:
2349:
2323:
2291:
2282:
2281:
2245:
2236:
2235:
2209:
2185:
2176:
2175:
2147:
2141:
2140:
2110:
2104:
2103:
2067:
2061:
2060:
2032:
2026:
2018:
2007:
2006:
1996:
1978:
1954:
1948:
1945:
1939:
1938:
1894:
1888:
1885:
1874:
1873:
1863:
1839:
1833:
1832:
1796:
1790:
1789:
1779:
1747:
1741:
1740:
1738:
1736:
1713:
1704:
1703:
1693:
1653:
1647:
1646:
1618:
1612:
1611:
1601:
1590:10.1002/mgg3.734
1569:
1556:
1555:
1553:
1552:
1546:
1539:
1531:
1525:
1524:
1522:
1521:
1491:
1485:
1484:
1460:
1454:
1453:
1423:
1414:
1413:
1411:
1409:
1398:
1389:
1388:
1386:
1384:
1369:rarediseases.org
1361:
1334:
1333:
1331:
1329:
1306:
1271:
1270:
1268:
1266:
1241:
1235:
1234:
1232:
1230:
1211:
1202:
1201:
1199:
1197:
1178:
1172:
1171:
1169:
1167:
1149:
1138:
1137:
1132:. Archived from
1120:
1040:
772:and an abnormal
584:ubiquitin ligase
503:Tongue thrusting
390:Physical therapy
357:rather than one
328:genetic disorder
211:Medical genetics
196:
195:
192:
191:
188:
185:
182:
179:
176:
173:
170:
161:
160:
157:
156:
153:
150:
147:
144:
141:
138:
135:
126:
125:
122:
121:
118:
115:
112:
109:
106:
103:
100:
97:
73:epicanthic folds
62:
42:
41:
21:
5122:
5121:
5117:
5116:
5115:
5113:
5112:
5111:
5062:
5061:
5060:
5051:
5025:
5007:
4938:
4920:
4890:Protein folding
4877:
4811:
4801:
4771:
4766:
4743:
4716:
4703:
4700:
4675:
4657:
4651:
4621:
4616:
4577:Ring chromosome
4537:
4430:
4363:
4267:
4183:
4170:
4134:
3947:
3846:
3831:
3826:
3796:
3791:
3782:Autism-friendly
3770:
3744:
3718:
3687:
3642:
3586:
3552:Noonan syndrome
3512:CHARGE syndrome
3483:
3418:
3384:Savant syndrome
3321:
3315:
3272:
3253:Pathophysiology
3206:
3201:
3155:
3150:
3149:
3104:
3103:
3036:
3022:
3017:
3016:
2985:
2981:
2950:
2946:
2915:
2911:
2902:
2900:
2885:
2881:
2852:JAMA Pediatrics
2847:
2841:
2837:
2805:
2801:
2774:Pediatr. Neurol
2770:
2766:
2735:
2731:
2690:
2686:
2649:
2645:
2636:
2634:
2624:
2620:
2611:
2609:
2601:
2600:
2596:
2587:
2585:
2576:
2575:
2571:
2564:
2556:
2552:
2507:
2503:
2448:
2444:
2399:
2395:
2357:
2353:
2292:
2285:
2246:
2239:
2186:
2179:
2148:
2144:
2111:
2107:
2068:
2064:
2033:
2029:
2019:
2010:
1955:
1951:
1946:
1942:
1895:
1891:
1886:
1877:
1840:
1836:
1797:
1793:
1756:Trends Neurosci
1748:
1744:
1734:
1732:
1714:
1707:
1654:
1650:
1619:
1615:
1570:
1559:
1550:
1548:
1544:
1537:
1533:
1532:
1528:
1519:
1517:
1510:
1492:
1488:
1477:
1461:
1457:
1424:
1417:
1407:
1405:
1400:
1399:
1392:
1382:
1380:
1363:
1362:
1337:
1327:
1325:
1314:ghr.nlm.nih.gov
1308:
1307:
1274:
1264:
1262:
1260:
1242:
1238:
1228:
1226:
1213:
1212:
1205:
1195:
1193:
1180:
1179:
1175:
1165:
1163:
1161:Merriam-Webster
1151:
1150:
1141:
1122:
1121:
1114:
1109:
1092:
1084:Gerald Anderson
1058:
1041:
1038:
1002:puppet syndrome
990:
977:
927:
849:
806:Autism spectrum
799:
753:
686:
684:Neurophysiology
558:
553:
487:
467:
440:
432:
398:life expectancy
375:genetic testing
304:life expectancy
291:Supportive care
257:genetic testing
200:
167:
163:
132:
128:
94:
90:
40:
37:
28:
23:
22:
15:
12:
11:
5:
5120:
5110:
5109:
5104:
5099:
5094:
5092:Genodermatoses
5089:
5084:
5079:
5077:Rare syndromes
5074:
5057:
5056:
5053:
5052:
5050:
5049:
5044:
5039:
5033:
5031:
5027:
5026:
5024:
5023:
5017:
5015:
5009:
5008:
5006:
5005:
5000:
4995:
4985:
4984:
4979:
4974:
4969:
4959:
4958:
4948:
4946:
4940:
4939:
4937:
4936:
4934:I-cell disease
4930:
4928:
4922:
4921:
4919:
4918:
4911:
4910:
4905:
4900:
4894:
4892:
4883:
4879:
4878:
4876:
4875:
4865:
4864:
4854:
4853:
4852:
4851:
4846:
4841:
4829:
4819:
4817:
4813:
4812:
4800:
4799:
4792:
4785:
4777:
4768:
4767:
4765:
4764:
4753:
4751:
4745:
4744:
4742:
4741:
4730:
4728:
4722:
4721:
4718:
4717:
4715:
4714:
4708:
4705:
4704:
4702:
4701:
4689:
4683:
4677:
4676:
4674:
4673:
4667:
4665:
4659:
4658:
4650:
4649:
4642:
4635:
4627:
4618:
4617:
4615:
4614:
4613:
4612:
4574:
4569:
4560:
4555:
4549:
4547:
4543:
4542:
4539:
4538:
4536:
4535:
4513:
4499:
4485:
4471:
4457:
4442:
4440:
4436:
4435:
4432:
4431:
4429:
4428:
4414:
4400:
4386:
4371:
4369:
4365:
4364:
4362:
4361:
4356:
4342:
4330:
4316:
4301:
4299:
4292:
4279:
4277:Translocations
4273:
4272:
4269:
4268:
4266:
4265:
4260:
4254:
4253:
4248:
4243:
4237:
4236:
4231:
4226:
4220:
4219:
4214:
4209:
4204:
4199:
4193:
4191:
4172:
4171:
4169:
4168:
4162:
4160:
4151:
4140:
4139:
4136:
4135:
4133:
4132:
4122:
4121:
4120:
4119:
4097:
4096:
4095:
4094:
4084:
4083:
4082:
4072:
4071:
4070:
4060:
4059:
4058:
4040:
4039:
4038:
4028:
4027:
4026:
4016:
4015:
4014:
4000:
3999:
3998:
3988:
3987:
3986:
3957:
3955:
3949:
3948:
3946:
3945:
3944:
3943:
3933:
3928:
3923:
3922:
3921:
3911:
3906:
3901:
3896:
3895:
3894:
3887:Patau syndrome
3884:
3879:
3874:
3869:
3864:
3859:
3853:
3851:
3839:
3833:
3832:
3825:
3824:
3817:
3810:
3802:
3793:
3792:
3790:
3789:
3784:
3778:
3776:
3775:Accommodations
3772:
3771:
3769:
3768:
3763:
3758:
3752:
3750:
3746:
3745:
3743:
3742:
3737:
3732:
3726:
3724:
3720:
3719:
3717:
3716:
3711:
3706:
3701:
3695:
3693:
3689:
3688:
3686:
3685:
3684:
3683:
3673:
3668:
3663:
3658:
3652:
3650:
3644:
3643:
3641:
3640:
3635:
3633:TEACCH program
3630:
3628:Neurodiversity
3625:
3620:
3615:
3610:
3608:Discrimination
3605:
3600:
3594:
3592:
3591:Related issues
3588:
3587:
3585:
3584:
3579:
3574:
3569:
3564:
3559:
3554:
3549:
3544:
3539:
3534:
3529:
3524:
3519:
3517:Cohen syndrome
3514:
3509:
3504:
3499:
3493:
3491:
3485:
3484:
3482:
3481:
3476:
3471:
3466:
3461:
3456:
3451:
3450:
3449:
3439:
3434:
3428:
3426:
3420:
3419:
3417:
3416:
3411:
3406:
3401:
3396:
3391:
3386:
3381:
3376:
3371:
3366:
3361:
3356:
3351:
3346:
3341:
3336:
3331:
3325:
3323:
3317:
3316:
3314:
3313:
3308:
3307:
3306:
3301:
3296:
3291:
3289:Classic autism
3280:
3278:
3274:
3273:
3271:
3270:
3265:
3260:
3258:Sex and gender
3255:
3250:
3245:
3240:
3235:
3230:
3225:
3220:
3214:
3212:
3208:
3207:
3200:
3199:
3192:
3185:
3177:
3171:
3170:
3165:
3152:
3151:
3148:
3147:
3136:
3125:
3113:
3112:
3110:
3106:
3105:
3102:
3101:
3090:
3079:
3068:
3053:
3037:
3032:
3031:
3029:
3028:Classification
3021:
3020:External links
3018:
3015:
3014:
2989:Am J Med Genet
2979:
2954:Am J Med Genet
2944:
2919:Am J Dis Child
2909:
2879:
2835:
2799:
2764:
2729:
2684:
2643:
2618:
2594:
2582:www.glpbio.com
2569:
2559:WO2018104419A1
2550:
2501:
2442:
2393:
2372:(6): 526–537.
2351:
2306:(2): 117–130.
2283:
2256:(4): 472–479.
2237:
2177:
2142:
2105:
2062:
2027:
2008:
1949:
1940:
1889:
1875:
1854:(6): 1005–13.
1834:
1807:(2): 136–146.
1801:Am J Med Genet
1791:
1762:(6): 293–303.
1742:
1705:
1648:
1613:
1557:
1526:
1509:978-1437717815
1508:
1486:
1475:
1455:
1436:(6): 681–688.
1415:
1390:
1375:(NORD). 2015.
1335:
1272:
1258:
1236:
1203:
1173:
1139:
1111:
1110:
1108:
1105:
1104:
1103:
1098:
1091:
1088:
1060:Many poems in
1057:
1054:
1036:
1009:Harry Angelman
989:
986:
976:
973:
926:
923:
903:, targets the
861:anticonvulsant
848:
845:
844:
843:
838:
833:
828:
823:
818:
813:
811:Cerebral palsy
808:
798:
795:
788:
787:
780:
777:
766:
763:
760:
752:
749:
685:
682:
557:
554:
552:
551:
548:
545:
542:
539:
536:
533:
530:
527:
524:
521:
515:
512:
509:
506:
500:
494:
488:
486:
483:
482:
481:
478:
475:
466:
463:
462:
461:
459:attention span
454:
447:
444:
439:
436:
431:
428:
408:Harry Angelman
332:nervous system
315:
314:
311:
307:
306:
302:Nearly normal
300:
294:
293:
288:
284:
283:
269:Cerebral palsy
266:
260:
259:
253:
247:
246:
245:(new mutation)
240:
236:
235:
232:
228:
227:
220:
214:
213:
208:
202:
201:
199:
198:
87:
85:
81:
80:
64:
63:
55:
54:
51:
47:
46:
38:
26:
9:
6:
4:
3:
2:
5119:
5108:
5105:
5103:
5100:
5098:
5095:
5093:
5090:
5088:
5085:
5083:
5080:
5078:
5075:
5073:
5070:
5069:
5067:
5048:
5045:
5043:
5040:
5038:
5035:
5034:
5032:
5028:
5022:
5019:
5018:
5016:
5014:
5010:
5004:
5001:
4999:
4996:
4994:
4990:
4987:
4986:
4983:
4980:
4978:
4975:
4973:
4970:
4968:
4964:
4961:
4960:
4957:
4953:
4950:
4949:
4947:
4945:
4941:
4935:
4932:
4931:
4929:
4927:
4923:
4917:
4914:chaperonins:
4913:
4912:
4909:
4906:
4904:
4901:
4899:
4896:
4895:
4893:
4891:
4887:
4884:
4880:
4874:
4870:
4867:
4866:
4863:
4859:
4856:
4855:
4850:
4847:
4845:
4842:
4840:
4837:
4836:
4835:
4834:
4830:
4828:
4824:
4821:
4820:
4818:
4814:
4810:
4806:
4803:Disorders of
4798:
4793:
4791:
4786:
4784:
4779:
4778:
4775:
4762:
4758:
4755:
4754:
4752:
4750:
4749:Chromosome 20
4746:
4739:
4735:
4732:
4731:
4729:
4727:
4726:Chromosome 15
4723:
4713:
4710:
4709:
4706:
4698:
4694:
4691:
4690:
4687:
4684:
4682:
4681:Chromosome 11
4678:
4672:
4669:
4668:
4666:
4664:
4660:
4656:
4648:
4643:
4641:
4636:
4634:
4629:
4628:
4625:
4611:
4607:
4603:
4599:
4595:
4591:
4587:
4583:
4580:
4579:
4578:
4575:
4573:
4570:
4568:
4564:
4561:
4559:
4556:
4554:
4551:
4550:
4548:
4544:
4533:
4529:
4525:
4521:
4517:
4514:
4511:
4507:
4503:
4500:
4497:
4493:
4489:
4486:
4483:
4479:
4475:
4472:
4469:
4465:
4461:
4458:
4455:
4451:
4447:
4446:Ewing sarcoma
4444:
4443:
4441:
4437:
4426:
4422:
4418:
4415:
4412:
4408:
4404:
4401:
4398:
4394:
4390:
4387:
4384:
4380:
4376:
4373:
4372:
4370:
4366:
4360:
4357:
4354:
4350:
4346:
4343:
4341:
4338:
4334:
4331:
4328:
4324:
4320:
4317:
4314:
4310:
4306:
4303:
4302:
4300:
4296:
4293:
4291:
4287:
4283:
4280:
4278:
4274:
4264:
4261:
4259:
4256:
4255:
4252:
4249:
4247:
4244:
4242:
4239:
4238:
4235:
4232:
4230:
4227:
4225:
4222:
4221:
4218:
4215:
4213:
4210:
4208:
4205:
4203:
4200:
4198:
4195:
4194:
4192:
4190:
4186:
4181:
4177:
4173:
4167:
4164:
4163:
4161:
4159:
4155:
4152:
4149:
4145:
4141:
4131:
4130:Proximal 18q-
4127:
4124:
4123:
4117:
4113:
4109:
4106:
4105:
4104:
4103:
4099:
4098:
4093:
4090:
4089:
4088:
4085:
4081:
4078:
4077:
4076:
4073:
4069:
4066:
4065:
4064:
4061:
4057:
4054:
4053:
4052:
4048:
4044:
4041:
4037:
4034:
4033:
4032:
4029:
4025:
4022:
4021:
4020:
4017:
4013:
4010:
4009:
4008:
4004:
4001:
3997:
3994:
3993:
3992:
3989:
3985:
3982:
3981:
3979:
3975:
3971:
3967:
3963:
3959:
3958:
3956:
3954:
3950:
3942:
3939:
3938:
3937:
3934:
3932:
3929:
3927:
3924:
3920:
3917:
3916:
3915:
3914:Down syndrome
3912:
3910:
3907:
3905:
3902:
3900:
3897:
3893:
3890:
3889:
3888:
3885:
3883:
3880:
3878:
3875:
3873:
3870:
3868:
3865:
3863:
3860:
3858:
3855:
3854:
3852:
3850:
3845:Duplications,
3843:
3840:
3838:
3834:
3830:
3823:
3818:
3816:
3811:
3809:
3804:
3803:
3800:
3788:
3785:
3783:
3780:
3779:
3777:
3773:
3767:
3764:
3762:
3759:
3757:
3754:
3753:
3751:
3747:
3741:
3738:
3736:
3733:
3731:
3728:
3727:
3725:
3721:
3715:
3712:
3710:
3707:
3705:
3702:
3700:
3697:
3696:
3694:
3690:
3682:
3679:
3678:
3677:
3674:
3672:
3669:
3667:
3664:
3662:
3659:
3657:
3654:
3653:
3651:
3649:
3648:Controversies
3645:
3639:
3636:
3634:
3631:
3629:
3626:
3624:
3621:
3619:
3616:
3614:
3611:
3609:
3606:
3604:
3601:
3599:
3596:
3595:
3593:
3589:
3583:
3580:
3578:
3575:
3573:
3570:
3568:
3565:
3563:
3562:Rett syndrome
3560:
3558:
3555:
3553:
3550:
3548:
3545:
3543:
3540:
3538:
3535:
3533:
3530:
3528:
3527:Down syndrome
3525:
3523:
3520:
3518:
3515:
3513:
3510:
3508:
3505:
3503:
3500:
3498:
3495:
3494:
3492:
3490:
3486:
3480:
3477:
3475:
3472:
3470:
3467:
3465:
3462:
3460:
3457:
3455:
3452:
3448:
3445:
3444:
3443:
3440:
3438:
3435:
3433:
3430:
3429:
3427:
3425:
3421:
3415:
3412:
3410:
3407:
3405:
3402:
3400:
3397:
3395:
3392:
3390:
3387:
3385:
3382:
3380:
3377:
3375:
3372:
3370:
3367:
3365:
3362:
3360:
3357:
3355:
3352:
3350:
3347:
3345:
3342:
3340:
3337:
3335:
3332:
3330:
3327:
3326:
3324:
3322:and phenomena
3318:
3312:
3309:
3305:
3302:
3300:
3297:
3295:
3292:
3290:
3287:
3286:
3285:
3282:
3281:
3279:
3275:
3269:
3266:
3264:
3261:
3259:
3256:
3254:
3251:
3249:
3246:
3244:
3241:
3239:
3236:
3234:
3231:
3229:
3226:
3224:
3221:
3219:
3216:
3215:
3213:
3209:
3205:
3198:
3193:
3191:
3186:
3184:
3179:
3178:
3175:
3169:
3166:
3164:
3160:
3157:
3156:
3146:
3142:
3141:
3137:
3135:
3131:
3130:
3126:
3124:
3120:
3119:
3115:
3114:
3111:
3107:
3100:
3096:
3095:
3091:
3089:
3085:
3084:
3080:
3078:
3074:
3073:
3069:
3067:
3063:
3062:
3058:
3054:
3052:
3048:
3047:
3043:
3039:
3038:
3035:
3030:
3026:
3010:
3006:
3002:
2998:
2995:(4): 829–38.
2994:
2990:
2983:
2975:
2971:
2967:
2963:
2960:(4): 453–60.
2959:
2955:
2948:
2940:
2936:
2932:
2928:
2924:
2920:
2913:
2899:on 2011-02-06
2898:
2894:
2893:Stay informed
2890:
2883:
2875:
2871:
2866:
2861:
2857:
2853:
2846:
2839:
2831:
2827:
2823:
2819:
2815:
2811:
2803:
2795:
2791:
2787:
2783:
2779:
2775:
2768:
2760:
2756:
2752:
2748:
2744:
2740:
2733:
2725:
2721:
2716:
2711:
2707:
2703:
2700:(3): 356–60.
2699:
2695:
2688:
2680:
2676:
2671:
2666:
2662:
2658:
2654:
2647:
2633:
2629:
2622:
2608:
2604:
2598:
2583:
2579:
2573:
2560:
2554:
2546:
2542:
2537:
2532:
2528:
2524:
2520:
2516:
2512:
2505:
2497:
2493:
2488:
2483:
2479:
2475:
2470:
2465:
2461:
2457:
2453:
2446:
2438:
2434:
2429:
2424:
2420:
2416:
2412:
2408:
2404:
2397:
2388:
2383:
2379:
2375:
2371:
2367:
2363:
2355:
2347:
2343:
2339:
2335:
2331:
2327:
2322:
2317:
2313:
2309:
2305:
2301:
2297:
2290:
2288:
2279:
2275:
2271:
2267:
2263:
2259:
2255:
2251:
2244:
2242:
2233:
2229:
2225:
2221:
2217:
2213:
2208:
2203:
2199:
2195:
2191:
2184:
2182:
2173:
2169:
2165:
2161:
2157:
2153:
2146:
2138:
2134:
2130:
2126:
2123:(2): 176–83.
2122:
2118:
2117:
2109:
2101:
2097:
2093:
2089:
2085:
2081:
2077:
2073:
2066:
2058:
2054:
2050:
2046:
2042:
2038:
2031:
2024:
2017:
2015:
2013:
2004:
2000:
1995:
1990:
1986:
1982:
1977:
1972:
1968:
1964:
1960:
1953:
1944:
1936:
1932:
1928:
1924:
1920:
1916:
1912:
1908:
1904:
1900:
1893:
1884:
1882:
1880:
1871:
1867:
1862:
1857:
1853:
1849:
1845:
1838:
1830:
1826:
1822:
1818:
1814:
1810:
1806:
1802:
1795:
1787:
1783:
1778:
1773:
1769:
1765:
1761:
1757:
1753:
1746:
1731:
1727:
1723:
1719:
1712:
1710:
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1547:on 2013-05-27
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1046:chromosome 15
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768:A history of
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4977:3-M syndrome
4831:
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4663:Chromosome 6
4107:
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3974:TAR syndrome
3877:Tetrasomy 9p
3506:
3238:Heritability
3228:Epidemiology
3138:
3127:
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2897:the original
2892:
2887:Williams C.
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1733:. Retrieved
1721:
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1542:the original
1529:
1518:. Retrieved
1499:
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1433:
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1406:. Retrieved
1381:. Retrieved
1368:
1326:. Retrieved
1320:. May 2015.
1313:
1263:. Retrieved
1249:
1239:
1227:. Retrieved
1218:
1194:. Retrieved
1185:
1176:
1164:. Retrieved
1156:
1134:the original
1127:
1077:
1073:
1072:(2005), and
1069:
1065:
1059:
1049:
1043:
1020:
1018:
1007:
1001:
978:
975:Epidemiology
971:population.
964:
957:
949:menstruation
943:
939:
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646:
634:
630:
622:
618:
614:
612:
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569:
567:
550:Constipation
544:Smooth palms
472:microcephaly
433:
415:
405:pediatrician
402:
379:
348:
323:
319:
318:
71:, bilateral
29:
4816:Translation
4805:translation
4263:46,XX/46,XY
4180:tetrasomies
4126:Distal 18q-
3666:MMR vaccine
3394:Infodumping
3369:Monotropism
3364:Late talker
3329:Alexithymia
3233:Epigenetics
3129:GeneReviews
3118:MedlinePlus
2745:(1): 6–16.
2584:(in German)
2158:(1): 3–20.
1722:GeneReviews
1668:(1): 2232.
1192:, Inc. 2003
1074:Small World
911:modulator (
384:in nature.
231:Usual onset
69:telecanthus
50:Other names
5066:Categories
4258:45,X/46,XY
4158:Monosomies
3931:Trisomy 22
3909:Trisomy 18
3899:Trisomy 16
3847:including
3676:Thiomersal
3618:Employment
3409:Echopraxia
3359:Hyperlexia
3094:DiseasesDB
2903:2011-07-01
2858:(9): 831.
2715:2066/22929
2637:2024-09-20
2612:2024-09-20
2588:2024-09-20
2578:"Alogabat"
2387:2066/77094
1848:Clin. Chem
1551:2012-09-29
1520:2022-04-15
1107:References
1013:Warrington
982:prevalence
960:continence
909:allosteric
879:AAC device
710:biomarkers
698:interictal
627:imprinting
586:for which
517:Prominent
492:Strabismus
420:pejorative
382:supportive
336:small head
77:small head
4944:Ubiquitin
4176:Trisomies
3953:Deletions
3872:Trisomy 9
3867:Trisomy 8
3849:trisomies
3837:Autosomal
3681:Chelation
3404:Echolalia
3277:Diagnoses
3268:Therapies
3223:Diagnosis
2657:Genet Med
2478:1866-1955
2346:209329797
2330:1365-2788
2270:0272-9490
2232:149445749
2216:0012-1622
1985:1866-1955
1919:0387-7604
1735:28 August
1265:April 15,
1229:April 15,
1196:April 15,
1166:April 15,
1070:Lucky Day
1066:Hand Held
1048:missing (
968:scoliosis
925:Prognosis
894:precuneus
866:melatonin
855:Melatonin
847:Treatment
751:Diagnosis
604:β-catenin
576:ubiquitin
359:inherited
310:Frequency
298:Prognosis
287:Treatment
206:Specialty
4823:Ribosome
4298:Lymphoid
4290:lymphoma
4286:Leukemia
3459:Epilepsy
3399:Stimming
3140:Orphanet
2874:27380555
2759:23949824
2679:11258627
2545:36244082
2496:36788499
2462:(1): 7.
2437:36502770
2338:31828905
2278:16915878
2224:31074506
2172:22142420
2092:16470747
2003:28503211
1927:15668045
1870:16574761
1829:20832857
1821:11180221
1786:21592595
1730:20301323
1700:29263404
1643:14993414
1608:31090212
1584:(7): 3.
1514:Archived
1481:Archived
1450:53730099
1408:10 March
1383:28 April
1377:Archived
1328:28 April
1322:Archived
1090:See also
1068:(1997),
1037:—
776:tracing.
770:epilepsy
729:such as
703:gelastic
519:mandible
412:syndrome
355:mutation
218:Symptoms
18:Angelman
4526:) t (1
4393:RUNX1T1
4368:Myeloid
4189:mosaics
3766:Schools
3243:History
3088:D017204
3009:3688021
2974:7091188
2939:7246489
2830:7573182
2794:8703225
2724:9072912
2536:9994640
2487:9930225
2428:9839587
2137:7625442
2100:2449346
2057:7625452
2025:(2019).
1994:5422949
1777:3116240
1691:5738348
1670:Bibcode
1599:6625091
988:History
945:Puberty
394:bracing
326:) is a
243:Genetic
4478:COL1A1
4150:linked
3248:Memory
3218:Causes
3204:Autism
3163:Curlie
3123:007616
3077:105830
3066:759.89
3007:
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1225:. 2004
1031:Verona
744:GABRG3
741:, and
738:GABRB3
732:GABRA5
606:, and
451:ataxia
273:autism
239:Causes
197:
5030:Other
5021:OFC10
4869:snRNP
4546:Other
4532:FOXO1
4530:; 13
4524:FOXO1
4522:; 13
4508:; 22
4504:t(11
4494:; 16
4492:DDIT3
4490:t(12
4482:PDGFB
4476:t(17
4452:; 22
4448:t(11
4439:Other
4421:RBM15
4405:t(15
4397:RUNX1
4381:; 22
4321:t(14
3749:Lists
3051:Q93.5
2848:(PDF)
2342:S2CID
2228:S2CID
2096:S2CID
1931:S2CID
1825:S2CID
1545:(PDF)
1538:(PDF)
1446:S2CID
1079:Budoy
932:UBE3A
918:UBE3A
901:Roche
727:UBE3A
723:UBE3A
719:UBE3A
714:delta
677:SNRPN
669:UBE3A
658:UBE3A
654:UBE3A
647:UBE3A
641:, or
635:UBE3A
631:UBE3A
623:UBE3A
619:UBE3A
615:UBE3A
608:UBXD8
592:PRMT5
588:MAPK1
580:UBE3A
571:UBE3A
556:Cause
363:UBE3A
162:, or
5013:SUMO
4833:FMR1
4807:and
4759:♀ /
4736:♀ /
4695:♀ /
4528:PAX7
4520:PAX3
4518:t(2
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4466:;18
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4425:MKL1
4423:;22
4419:t(1
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4395:;21
4391:t(8
4377:t(9
4353:NPM1
4347:t(2
4327:BCL2
4325:;18
4311:;14
4307:t(8
3211:Main
3083:MeSH
3072:OMIM
3061:9-CM
3005:PMID
2970:PMID
2935:PMID
2870:PMID
2826:PMID
2790:PMID
2755:PMID
2720:PMID
2675:PMID
2541:PMID
2492:PMID
2474:ISSN
2433:PMID
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2334:PMID
2326:ISSN
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2266:ISSN
2220:PMID
2212:ISSN
2168:PMID
2133:PMID
2088:PMID
2053:PMID
1999:PMID
1981:ISSN
1935:5912
1923:PMID
1915:ISSN
1866:PMID
1817:PMID
1782:PMID
1737:2022
1726:PMID
1696:PMID
1639:PMID
1604:PMID
1504:ISBN
1471:ISBN
1410:2024
1385:2017
1330:2017
1267:2022
1254:ISBN
1231:2022
1198:2022
1168:2022
947:and
935:gene
913:PAMs
688:The
600:CDK4
596:CDK1
392:and
4510:EWS
4506:WT1
4496:FUS
4468:SSX
4464:SYT
4454:EWS
4407:PML
4383:BCR
4379:ABL
4351:;5
4349:ALK
4323:IGH
4313:IGH
4309:MYC
3161:at
3099:712
3057:ICD
3042:ICD
2997:doi
2962:doi
2927:doi
2923:135
2860:doi
2856:170
2818:doi
2782:doi
2747:doi
2710:hdl
2702:doi
2665:doi
2531:PMC
2523:doi
2519:100
2482:PMC
2464:doi
2423:PMC
2415:doi
2411:236
2382:hdl
2374:doi
2316:hdl
2308:doi
2258:doi
2202:doi
2160:doi
2125:doi
2080:doi
2076:140
2045:doi
1989:PMC
1971:doi
1907:doi
1856:doi
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190:n
187:ə
184:m
175:n
169:ˈ
166:/
158:/
155:n
152:ə
149:m
140:n
137:æ
134:ˈ
131:/
123:/
120:n
117:ə
114:m
111:l
108:ə
105:ɡ
102:ŋ
99:æ
96:ˈ
93:/
36:.
20:)
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