ライフサイエンスコーパス: Prader-Willi syndrome

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

19 Prader-Willi syndrome and Angelman syndrome are associat

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

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

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

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

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

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

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

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

28 3a-ATS but not any imprinting defects in the Prader-Willi syndrome/Angelman syndrome region.

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

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

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

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

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

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

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

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

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

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

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

40 Prader-Willi syndrome is a complex neurodevelopmental di

41 Prader-Willi syndrome is a developmental disorder with d

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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