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