ライフサイエンスコーパス: Prader

1 Prader-Willi and Angelman syndromes (PWS and AS) typical

2 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) a

3 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) a

4 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) a

5 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) a

6 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) a

7 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) a

8 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) a

9 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) a

10 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) r

11 Prader-Willi syndrome (PWS) is a complex disorder that m

12 Prader-Willi syndrome (PWS) is a complex genetic disorde

13 Prader-Willi syndrome (PWS) is a complex neurobehavioral

14 Prader-Willi syndrome (PWS) is a genetic disorder charac

15 Prader-Willi syndrome (PWS) is a genetic neurodevelopmen

16 Prader-Willi syndrome (PWS) is a neurobehavioral disorde

17 Prader-Willi syndrome (PWS) is a neurobehavioural disord

18 Prader-Willi syndrome (PWS) is an imprinting disorder ca

19 Prader-Willi syndrome (PWS) is caused by a loss of pater

20 Prader-Willi syndrome (PWS) is caused by alterations of

21 Prader-Willi syndrome (PWS) is caused by deficiency for

22 Prader-Willi syndrome (PWS) is caused by lack of paterna

23 Prader-Willi syndrome (PWS) is caused by loss of paterna

24 Prader-Willi syndrome (PWS) is caused by paternal defici

25 Prader-Willi syndrome (PWS) is caused by the absence of

26 Prader-Willi syndrome (PWS) is most often the result of

27 Prader-Willi syndrome (PWS) is the predominant genetic c

28 Prader-Willi syndrome (PWS), a disorder of genomic impri

29 Prader-Willi syndrome (PWS), a genetic disorder of obesi

30 Prader-Willi syndrome (PWS), most notably characterized

31 Prader-Willi syndrome and Angelman syndrome are associat

32 Prader-Willi syndrome is a complex neurodevelopmental di

33 Prader-Willi syndrome is a developmental disorder with d

34 SIM1, were reported in obese children with a Prader-Willi-like syndrome; however, SIM1 involvement in

35 l as patients presenting with trisomy 21 and Prader-Willi syndrome.

36 eletions found in most cases of Angelman and Prader Willi syndrome, the duplications appear to be med

37 e nuclei to distinguish between Angelman and Prader-Willi syndrome patient samples with uniparental d

38 sychological disorders, such as Angelman and Prader-Willi syndromes, and autism spectrum disorder.

39 large deletions associated with Angelman and Prader-Willi syndromes.

40 the region commonly deleted in Angelman and Prader-Willi syndromes.

41 comparable to that of Williams, Angelman and Prader-Willi syndromes.

42 Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are neurodevelopmental disor

43 ted genes such as Angelman syndrome (AS) and Prader-Willi syndrome (PWS) can have a mutation in the i

44 ponsible for both Angelman syndrome (AS) and Prader-Willi syndrome (PWS), two clinically distinct neu

45 Patients with Angelman syndrome (AS) and Prader-Willi syndrome with mutations in the imprinting p

46 ions causing Duchenne muscular dystrophy and Prader-Willi/Angelman syndromes.

47 y in children with chronic renal failure and Prader-Willi syndrome.

48 oventilation syndrome, myelomeningocele, and Prader-Willi syndrome.

49 therapy for children with Down syndrome and Prader-Willi syndrome as an example.

50 The Angelman/Prader-Willi syndrome (AS/PWS) domain contains at least

51 ment of neurodevelopmental disorders such as Prader-Willi syndrome and autism.

52 ndromes involving brain dysfunction, such as Prader-Willi syndrome, Angelman syndrome, Turner's syndr

53 estigated in Autism Spectrum Disorder (ASD), Prader-Willi Syndrome (PWS), Williams Syndrome (WS) and

54 mosomes, as well as the deletions that cause Prader-Willi and Angelman syndromes.

55 duplications can result in deletions causing Prader-Willi and Angelman syndromes.

56 sponsible for other aspects of the classical Prader-Willi syndrome phenotype.

57 ary to cause the neurodevelopmental disorder Prader-Willi syndrome (PWS).

58 ng autism, pervasive developmental disorder, Prader-Willi and Angelman syndromes showed significant d

59 The neurodevelopmental disorder, Prader-Willi syndrome, is generally regarded as a geneti

60 the epigenetic neurodevelopmental disorders Prader-Willi, Angelman and Rett syndromes and hypothesiz

61 Developmental abnormalities, such as Down, Prader Willi, Angelman and Cri du Chat syndromes, result

62 The most common etiology for Prader-Willi syndrome and Angelman syndrome is de novo i

63 d hypogonadism, in whom diagnostic tests for Prader-Willi syndrome (PWS) had been negative.

64 ngelman, Alagille, Williams, Langer-Giedeon, Prader-Willi, Smith-Magenis, Miller-Dieker, and DiGeorge

65 A novel locus in the human Prader-Willi syndrome (PWS) region encodes the imprinted

66 y 800 kb of the distal part of the imprinted Prader-Willi and Angelman syndrome region.

67 n is a candidate for a role in the imprinted Prader-Willi syndrome (PWS) and PWS mouse models.

68 nd asymmetry of L1 elements at the imprinted Prader-Willi syndrome/Angelman syndrome (PWS/AS) locus o

69 In Prader-Willi syndrome, 2 years of growth hormone therapy

70 ately regulated imprinted domain affected in Prader-Willi syndrome patients with imprinting mutations

71 he breakpoint regions of common deletions in Prader-Willi and Angelman syndromes.

72 SNORD116 snoRNA cluster and the Imprinted in Prader-Willi (IPW) non-coding RNA.

73 One of these is NIPA1 (non-imprinted in Prader-Willi/Angelman syndrome 1) and we have shown rece

74 literature the predictors of self-injury in Prader-Willi syndrome are becoming more refined.

75 small population that is selectively lost in Prader-Willi syndrome, a condition involving insatiable

76 ic defects involving chromosome 15q11-q13 in Prader-Willi (PWS) and Angelman (AS) syndromes.

77 range imprinted gene expression resulting in Prader-Willi syndrome.

78 egion or by uniparental disomy 15 results in Prader-Willi syndrome (PWS) or Angelman syndrome (AS), r

79 gene expression from this region results in Prader-Willi syndrome (PWS), while absence of maternal g

80 nally derived gene expression and results in Prader-Willi syndrome (PWS).

81 '/B levels in response to the loss of SmN in Prader-Willi syndrome brain tissue, potentially reducing

82 ole of recombinant growth hormone therapy in Prader-Willi syndrome and the genetic information respon

83 human neurodevelopmental disorders including Prader-Willi syndrome (PWS), Angelman syndrome (AS) and

84 everal neurobehavioural disorders, including Prader-Willi syndrome, affective disorders and obsessive

85 or within, a region commonly deleted in most Prader-Willi syndrome patients.

86 d and reliable in the molecular diagnosis of Prader-Willi syndrome.

87 sults in the clinically distinct disorder of Prader-Willi syndrome.

88 o how they contribute to the pathogenesis of Prader-Willi syndrome.

89 tein N) locus may result in the phenotype of Prader-Willi syndrome (PWS).

90 scovered in the common breakpoint regions of Prader-Willi and Angelman syndrome deletions.

91 d probes for the commonly deleted regions of Prader-Willi, Angelman, Williams, Smith-Magenis, and DiG

92 obesity associated with, or independent of, Prader-Willi-like features.

93 me of the clinical features of the polygenic Prader-Willi syndrome.

94 across approximately 1.9 Mb of the 15q11-q13 Prader-Willi/Angelman syndrome region, demonstrating tha

95 cy and conditions such as Turner's syndrome, Prader-Willi syndrome, intrauterine growth restriction,

96 The Prader-Willi syndrome (PWS) genetic interval contains se

97 The Prader-Willi syndrome (PWS) is caused by genomic alterat

98 The Prader-Willi syndrome (PWS)/Angelman syndrome (AS) regio

99 The Prader-Willi syndrome IC (PWS-IC) on human chromosome 15

100 The Prader-Willi syndrome/Angelman syndrome (PWS/AS) imprint

101 egulation of growth suppressors, such as the Prader-Willi gene NECDIN, whose function was confirmed b

102 are known to be positively regulated by the Prader-Willi syndrome imprinting center (PWS-IC).

103 Human chromosome 15q11-q13 encompasses the Prader-Willi syndrome (PWS) and the Angelman syndrome (A

104 nits have been implicated as a cause for the Prader-Willi syndrome (PWS).

105 S) cells show altered DNA methylation in the Prader-Willi imprinted region and ectopic expression of

106 at a cluster of four imprinted genes in the Prader-Willi syndrome (PWS) locus on chromosome 7 and ge

107 the smallest deletion region involved in the Prader-Willi syndrome (PWS) within chromosome 15q11-q13.

108 lly expressed, imprinted gene located in the Prader-Willi syndrome critical region (chromosome 15q11-

109 script), H19, and IPW (imprinted gene in the Prader-Willi syndrome region), which are transcribed but

110 letion or uniparental disomy, results in the Prader-Willi syndrome.

111 3a-ATS but not any imprinting defects in the Prader-Willi syndrome/Angelman syndrome region.

112 In studies of genomic imprinting in the Prader-Willi/Angelman domain, an agouti coat color casse

113 chromosome 15 (inv dup[15]) that include the Prader-Willi syndrome/Angelman syndrome (PWS/AS) chromos

114 nine candidate genes/regions, including the Prader-Willi chromosomal region (PWS), the human homolog

115 s and 350 kbp deletions at 15q11.2, near the Prader-Willi/Angelman syndrome critical region, in 0.8%

116 is contiguous with breakpoint 3 (BP3) of the Prader-Willi and Angelman syndrome region, extending 3.9

117 made in determining the genetic basis of the Prader-Willi and Angelman syndromes; disorders in which

118 Deletion of the Prader-Willi imprinting center (PWS-IC) within 15q11.2-1

119 t demonstrated several manifestations of the Prader-Willi syndrome but was clinically atypical.

120 h autistic disorder with duplications of the Prader-Willi/Angelman syndrome critical region, we scree

121 ourth had an interstitial duplication of the Prader-Willi/Angelman syndrome region on chromosome 15q,

122 ternally expressed transcripts mapped to the Prader-Willi syndrome critical region.

123 e by an upstream break may contribute to the Prader-Willi syndrome phenotype and that expression of S

124 n reaction analysis within and distal to the Prader-Willi/Angelman syndrome critical region (PWACR).

125 in the human genome are associated with the Prader-Willi Syndrome (PWS) and Beckwith-Wiedemann Syndr

126 SNRPN is located within the Prader-Willi and Angelman syndrome (PWS/AS) region that

127 riants (rs4906844 and rs11633924) within the Prader-Willi and Angelman syndrome region on chromosome

128 lenced, gene located at 15q11-13, within the Prader-Willi region.

129 Imprinted genes within the Prader-Willi/Angelman syndrome region of human chromosom

130 )(q37.2;q11.2)-involving breakage within the Prader-Willi/Angelman syndrome region of the paternal ho

131 nd might also be therapeutically relevant to Prader-Willi syndrome, characterized after infancy by hy

132 Unlike Prader-Willi and Angelman syndromes, no chromosomal dele

133 s of 18 canine testes were obtained by using Prader and Rochester orchidometers.

134 ed female newborns are profoundly virilized (Prader score of 4/5), and both genders display significa

135 aternal contribution from the locus, whereas Prader-Willi syndrome results from the absence of patern

136 Imprinted gene expression associated with Prader-Willi syndrome (PWS) and Angelman syndrome (AS) i

137 ps to the chromosomal region associated with Prader-Willi Syndrome (PWS), are highly enriched in the

138 , and loss of MAGEL2 is also associated with Prader-Willi syndrome, a neurodevelopmental genetic diso

139 rowth hormone (hGH) therapy in children with Prader-Willi syndrome (PWS) improves linear growth, body

140 Children with Prader-Willi syndrome lack a paternally derived copy of

141 2E, p.R581G, and p.T714A) in 4 children with Prader-Willi-like syndrome features (including severe ob

142 Here, SIM1 was sequenced in 44 children with Prader-Willi-like syndrome features, 198 children with s

143 ave been identified in several families with Prader-Willi syndrome (PWS) or Angelman syndrome who sho

144 prominent characteristic of individuals with Prader-Willi syndrome (PWS).

145 linked to task switching in individuals with Prader-Willi syndrome (PWS).

146 A patient with Prader-Willi syndrome (PWS) was found to carry a de novo

147 receptor stimuli are absent in patients with Prader-Willi syndrome (PWS) during wakefulness.

148 Some patients with Prader-Willi Syndrome (PWS) have symptoms of constipatio

149 somy, accounts for >95% of all patients with Prader-Willi syndrome.

150 of several that are deleted in patients with Prader-Willi syndrome.