1 Fifty years
ago,
Willi Dansgaard and colleagues discovered several abrupt
2 s found in most cases of Angelman and
Prader Willi syndrome, the duplications appear to be mediated b
3 opmental abnormalities, such as Down,
Prader Willi, Angelman and Cri du Chat syndromes, result from g
4 Prader-
Willi (PWS) and Angelman (AS) syndromes are two clinical
5 Prader-
Willi and Angelman syndromes (PWS and AS) typically resu
6 Prader-
Willi syndrome (PWS) and Angelman syndrome (AS) are caus
7 Prader-
Willi syndrome (PWS) and Angelman syndrome (AS) are caus
8 Prader-
Willi syndrome (PWS) and Angelman syndrome (AS) are deve
9 Prader-
Willi syndrome (PWS) and Angelman syndrome (AS) are dist
10 Prader-
Willi syndrome (PWS) and Angelman syndrome (AS) are oppo
11 Prader-
Willi syndrome (PWS) and Angelman syndrome (AS) are two
12 Prader-
Willi syndrome (PWS) and Angelman syndrome (AS) are two
13 Prader-
Willi syndrome (PWS) and Angelman syndrome (AS) are two
14 Prader-
Willi syndrome (PWS) and Angelman syndrome (AS) result f
15 Prader-
Willi syndrome (PWS) is a complex disorder that manifest
16 Prader-
Willi syndrome (PWS) is a complex genetic disorder chara
17 Prader-
Willi syndrome (PWS) is a complex neurobehavioral disord
18 Prader-
Willi syndrome (PWS) is a genetic disorder characterized
19 Prader-
Willi syndrome (PWS) is a genetic neurodevelopmental dis
20 Prader-
Willi syndrome (PWS) is a genomic imprinting disorder ca
21 Prader-
Willi syndrome (PWS) is a neurobehavioral and epigenetic
22 Prader-
Willi syndrome (PWS) is a neurobehavioral disorder chara
23 Prader-
Willi syndrome (PWS) is a neurobehavioural disorder char
24 Prader-
Willi syndrome (PWS) is a neurodevelopmental disorder ca
25 Prader-
Willi syndrome (PWS) is a rare neurodevelopmental disord
26 Prader-
Willi syndrome (PWS) is an imprinting disorder caused by
27 Prader-
Willi syndrome (PWS) is caused by a loss of paternally e
28 Prader-
Willi syndrome (PWS) is caused by alterations of the pat
29 Prader-
Willi syndrome (PWS) is caused by deficiency for one or
30 Prader-
Willi syndrome (PWS) is caused by deficient expression o
31 Prader-
Willi syndrome (PWS) is caused by lack of paternally der
32 Prader-
Willi syndrome (PWS) is caused by loss of paternally exp
33 Prader-
Willi syndrome (PWS) is caused by paternal deficiency of
34 Prader-
Willi syndrome (PWS) is caused by the absence of paterna
35 Prader-
Willi Syndrome (PWS) is caused by the loss of expression
36 Prader-
Willi syndrome (PWS) is characterized by neonatal hypoto
37 Prader-
Willi syndrome (PWS) is most often the result of a delet
38 Prader-
Willi syndrome (PWS) is the predominant genetic cause of
39 Prader-
Willi syndrome (PWS) is the prototypic genomic disorder
40 Prader-
Willi syndrome (PWS), a disorder of genomic imprinting,
41 Prader-
Willi syndrome (PWS), a genetic disorder of obesity, int
42 Prader-
Willi syndrome (PWS), most notably characterized by infa
43 Prader-
Willi syndrome and Angelman syndrome are associated with
44 Prader-
Willi syndrome is a complex neurodevelopmental disorder
45 Prader-
Willi syndrome is a developmental disorder with distinct
46 ere reported in obese children with a
Prader-
Willi-like syndrome; however, SIM1 involvement in obesit
47 larly the 15q11-q13 Angelman (AS) and
Prader-
Willi (PWS) syndrome locus.
48 Angelman syndrome (AS) and
Prader-
Willi syndrome (PWS) are neurodevelopmental disorders of
49 es such as Angelman syndrome (AS) and
Prader-
Willi syndrome (PWS) can have a mutation in the imprinti
50 e for both Angelman syndrome (AS) and
Prader-
Willi syndrome (PWS), two clinically distinct neurodevel
51 y for children with Down syndrome and
Prader-
Willi syndrome as an example.
52 i to distinguish between Angelman and
Prader-
Willi syndrome patient samples with uniparental disomy o
53 ients with Angelman syndrome (AS) and
Prader-
Willi syndrome with mutations in the imprinting process
54 ation syndrome, myelomeningocele, and
Prader-
Willi syndrome.
55 tients presenting with trisomy 21 and
Prader-
Willi syndrome.
56 ildren with chronic renal failure and
Prader-
Willi syndrome.
57 gical disorders, such as Angelman and
Prader-
Willi syndromes, and autism spectrum disorder.
58 eletions associated with Angelman and
Prader-
Willi syndromes.
59 gion commonly deleted in Angelman and
Prader-
Willi syndromes.
60 ble to that of Williams, Angelman and
Prader-
Willi syndromes.
61 using Duchenne muscular dystrophy and
Prader-
Willi/Angelman syndromes.
62 The Angelman/
Prader-
Willi syndrome (AS/PWS) domain contains at least 8 impri
63 The most common individual ImpDis are
Prader-
Willi syndrome, Angelman syndrome and Beckwith-Wiedemann
64 neurodevelopmental disorders, such as
Prader-
Willi syndrome (PWS), which results from the deletion of
65 neurodevelopmental disorders such as
Prader-
Willi syndrome and autism.
66 neurodevelopmental syndromes, such as
Prader-
Willi syndrome and septo-optic dysplasia.
67 involving brain dysfunction, such as
Prader-
Willi syndrome, Angelman syndrome, Turner's syndrome, bi
68 screening for Angelman syndrome (AS),
Prader-
Willi syndrome (PWS), and chromosome 15 duplication synd
69 ed in Autism Spectrum Disorder (ASD),
Prader-
Willi Syndrome (PWS), Williams Syndrome (WS) and Fragile
70 , as well as the deletions that cause
Prader-
Willi and Angelman syndromes.
71 tions can result in deletions causing
Prader-
Willi and Angelman syndromes.
72 le for other aspects of the classical
Prader-
Willi syndrome phenotype.
73 ked to the neurodevelopmental disease
Prader-
Willi syndrome.
74 cause the neurodevelopmental disorder
Prader-
Willi syndrome (PWS).
75 sm, pervasive developmental disorder,
Prader-
Willi and Angelman syndromes showed significant differen
76 The neurodevelopmental disorder,
Prader-
Willi syndrome, is generally regarded as a genetic model
77 igenetic neurodevelopmental disorders
Prader-
Willi, Angelman and Rett syndromes and hypothesize a lin
78 onadism, in whom diagnostic tests for
Prader-
Willi syndrome (PWS) had been negative.
79 The most common etiology for
Prader-
Willi syndrome and Angelman syndrome is de novo intersti
80 high ASD-associated risk observed for
Prader-
Willi/Angelman syndrome duplications (HR, 20.8; 95% CI,
81 We also explored ARCOs generated from
Prader-
Willi syndrome (PWS) patient iPSCs.
82 , Alagille, Williams, Langer-Giedeon,
Prader-
Willi, Smith-Magenis, Miller-Dieker, and DiGeorge/veloca
83 include cri-du-chat, Wolf-Hirschhorn,
Prader-
Willi, Down, and Turner syndromes.
84 A novel locus in the human
Prader-
Willi syndrome (PWS) region encodes the imprinted ZNF127
85 b of the distal part of the imprinted
Prader-
Willi and Angelman syndrome region.
86 candidate for a role in the imprinted
Prader-
Willi syndrome (PWS) and PWS mouse models.
87 metry of L1 elements at the imprinted
Prader-
Willi syndrome/Angelman syndrome (PWS/AS) locus on mouse
88 6 snoRNA cluster and the Imprinted in
Prader-
Willi (IPW) non-coding RNA.
89 cts involving chromosome 15q11-q13 in
Prader-
Willi (PWS) and Angelman (AS) syndromes.
90 kpoint regions of common deletions in
Prader-
Willi and Angelman syndromes.
91 r by uniparental disomy 15 results in
Prader-
Willi syndrome (PWS) or Angelman syndrome (AS), respecti
92 xpression from this region results in
Prader-
Willi syndrome (PWS), while absence of maternal gene exp
93 erived gene expression and results in
Prader-
Willi syndrome (PWS).
94 e and treatment of vision problems in
Prader-
Willi syndrome (PWS).
95 recombinant growth hormone therapy in
Prader-
Willi syndrome and the genetic information responsible f
96 ture the predictors of self-injury in
Prader-
Willi syndrome are becoming more refined.
97 els in response to the loss of SmN in
Prader-
Willi syndrome brain tissue, potentially reducing the ph
98 egulated imprinted domain affected in
Prader-
Willi syndrome patients with imprinting mutations.
99 In
Prader-
Willi syndrome, 2 years of growth hormone therapy also i
100 ne is associated with obesity; and in
Prader-
Willi syndrome, a condition characterized by obesity, hy
101 opulation that is selectively lost in
Prader-
Willi syndrome, a condition involving insatiable hunger.
102 MAGEL2 is also inactivated in
Prader-
Willi syndrome, which overlaps clinically and mechanisti
103 mprinted gene expression resulting in
Prader-
Willi syndrome.
104 e of these is NIPA1 (non-imprinted in
Prader-
Willi/Angelman syndrome 1) and we have shown recently th
105 eurodevelopmental disorders including
Prader-
Willi syndrome (PWS), Angelman syndrome (AS) and autism.
106 neurobehavioural disorders, including
Prader-
Willi syndrome, affective disorders and obsessive-compul
107 with high prevalence of autism, like
Prader-
Willi Syndrome (PWS).
108 in, a region commonly deleted in most
Prader-
Willi syndrome patients.
109 d in the common breakpoint regions of
Prader-
Willi and Angelman syndrome deletions.
110 locus may result in the phenotype of
Prader-
Willi syndrome (PWS).
111 gh MAGEL2 is deleted in most cases of
Prader-
Willi syndrome (PWS, OMIM #176270), SYS presents with mo
112 n the clinically distinct disorder of
Prader-
Willi syndrome.
113 eliable in the molecular diagnosis of
Prader-
Willi syndrome.
114 circuit deficits in a mouse model of
Prader-
Willi Syndrome.
115 hey contribute to the pathogenesis of
Prader-
Willi syndrome.
116 s for the commonly deleted regions of
Prader-
Willi, Angelman, Williams, Smith-Magenis, and DiGeorge/v
117 y associated with, or independent of,
Prader-
Willi-like features.
118 he clinical features of the polygenic
Prader-
Willi syndrome.
119 approximately 1.9 Mb of the 15q11-q13
Prader-
Willi/Angelman syndrome region, demonstrating that the i
120 conditions such as Turner's syndrome,
Prader-
Willi syndrome, intrauterine growth restriction, and chr
121 SNRPN is located within the
Prader-
Willi and Angelman syndrome (PWS/AS) region that contain
122 (rs4906844 and rs11633924) within the
Prader-
Willi and Angelman syndrome region on chromosome 15q12 s
123 iguous with breakpoint 3 (BP3) of the
Prader-
Willi and Angelman syndrome region, extending 3.95 Mb di
124 determining the genetic basis of the
Prader-
Willi and Angelman syndromes; disorders in which genomic
125 2) gene deficiency characterizing the
Prader-
Willi and Schaaf-Yang neurodevelopmental syndromes.
126 andidate genes/regions, including the
Prader-
Willi chromosomal region (PWS), the human homologue of t
127 on of growth suppressors, such as the
Prader-
Willi gene NECDIN, whose function was confirmed by overe
128 s show altered DNA methylation in the
Prader-
Willi imprinted region and ectopic expression of the Mag
129 Deletion of the
Prader-
Willi imprinting center (PWS-IC) within 15q11.2-13.3 dis
130 rnally expressed gene, located in the
Prader-
Willi region of human chromosome 15.
131 gene located at 15q11-13, within the
Prader-
Willi region.
132 human genome are associated with the
Prader-
Willi Syndrome (PWS) and Beckwith-Wiedemann Syndrome (BW
133 chromosome 15q11-q13 encompasses the
Prader-
Willi syndrome (PWS) and the Angelman syndrome (AS) loci
134 The
Prader-
Willi syndrome (PWS) genetic interval contains several b
135 The
Prader-
Willi syndrome (PWS) is caused by genomic alterations th
136 luster of four imprinted genes in the
Prader-
Willi syndrome (PWS) locus on chromosome 7 and genes fro
137 llest deletion region involved in the
Prader-
Willi syndrome (PWS) within chromosome 15q11-q13.
138 are deleted in most patients with the
Prader-
Willi syndrome (PWS), diminished HTR2C receptor activity
139 ve been implicated as a cause for the
Prader-
Willi syndrome (PWS).
140 The
Prader-
Willi syndrome (PWS)/Angelman syndrome (AS) region, on h
141 strated several manifestations of the
Prader-
Willi syndrome but was clinically atypical.
142 ressed, imprinted gene located in the
Prader-
Willi syndrome critical region (chromosome 15q11-q13).
143 y expressed transcripts mapped to the
Prader-
Willi syndrome critical region.
144 The
Prader-
Willi syndrome IC (PWS-IC) on human chromosome 15 and mo
145 own to be positively regulated by the
Prader-
Willi syndrome imprinting center (PWS-IC).
146 ome imprinting center (AS-IC) and the
Prader-
Willi syndrome imprinting center (PWS-IC).
147 upstream break may contribute to the
Prader-
Willi syndrome phenotype and that expression of SNRPN or
148 , H19, and IPW (imprinted gene in the
Prader-
Willi syndrome region), which are transcribed but not tr
149 or uniparental disomy, results in the
Prader-
Willi syndrome.
150 ome 15 (inv dup[15]) that include the
Prader-
Willi syndrome/Angelman syndrome (PWS/AS) chromosomal re
151 The
Prader-
Willi syndrome/Angelman syndrome (PWS/AS) imprinted doma
152 but not any imprinting defects in the
Prader-
Willi syndrome/Angelman syndrome region.
153 studies of genomic imprinting in the
Prader-
Willi/Angelman domain, an agouti coat color cassette was
154 ion analysis within and distal to the
Prader-
Willi/Angelman syndrome critical region (PWACR).
155 50 kbp deletions at 15q11.2, near the
Prader-
Willi/Angelman syndrome critical region, in 0.8% of affe
156 tic disorder with duplications of the
Prader-
Willi/Angelman syndrome critical region, we screened sev
157 Imprinted genes within the
Prader-
Willi/Angelman syndrome region of human chromosome 15q11
158 ;q11.2)-involving breakage within the
Prader-
Willi/Angelman syndrome region of the paternal homologue
159 ad an interstitial duplication of the
Prader-
Willi/Angelman syndrome region on chromosome 15q, which,
160 eurodevelopmental disorder related to
Prader-
Willi syndrome (PWS).
161 t also be therapeutically relevant to
Prader-
Willi syndrome, characterized after infancy by hyperghre
162 Unlike
Prader-
Willi and Angelman syndromes, no chromosomal deletions h
163 contribution from the locus, whereas
Prader-
Willi syndrome results from the absence of paternally ex
164 inted gene expression associated with
Prader-
Willi syndrome (PWS) and Angelman syndrome (AS) is contr
165 refrontal cortex (PFC) of donors with
Prader-
Willi syndrome (PWS) compared to controls and examined r
166 r stimuli are absent in patients with
Prader-
Willi syndrome (PWS) during wakefulness.
167 Some patients with
Prader-
Willi Syndrome (PWS) have symptoms of constipation, but
168 ormone (hGH) therapy in children with
Prader-
Willi syndrome (PWS) improves linear growth, body compos
169 n identified in several families with
Prader-
Willi syndrome (PWS) or Angelman syndrome who show epige
170 A patient with
Prader-
Willi syndrome (PWS) was found to carry a de novo balanc
171 he chromosomal region associated with
Prader-
Willi Syndrome (PWS), are highly enriched in the SCN.
172 t age and sex alongside patients with
Prader-
Willi syndrome (PWS), Beckwith-Wiedemann syndrome, Fragi
173 nt characteristic of individuals with
Prader-
Willi syndrome (PWS).
174 rphagic behaviors in individuals with
Prader-
Willi syndrome (PWS).
175 to task switching in individuals with
Prader-
Willi syndrome (PWS).
176 at suppresses obesity associated with
Prader-
Willi syndrome - and reduced HFD-induced non-alcoholic f
177 Children with
Prader-
Willi syndrome lack a paternally derived copy of the pro
178 oss of MAGEL2 is also associated with
Prader-
Willi syndrome, a neurodevelopmental genetic disorder.
179 ccounts for >95% of all patients with
Prader-
Willi syndrome.
180 ral that are deleted in patients with
Prader-
Willi syndrome.
181 581G, and p.T714A) in 4 children with
Prader-
Willi-like syndrome features (including severe obesity)
182 IM1 was sequenced in 44 children with
Prader-
Willi-like syndrome features, 198 children with severe e
183 disorder (ASD) and Dravet, Fragile X,
Prader-
Willi, Turner, and Williams syndromes.