戻る
「早戻しボタン」を押すと検索画面に戻ります。 [閉じる]

コーパス検索結果 (１語後でソート)

通し番号をクリックするとPubMedの該当ページを表示します
1 sults in the clinically distinct disorder of Prader-Willi syndrome.
2 letion or uniparental disomy, results in the Prader-Willi syndrome.
3 oventilation syndrome, myelomeningocele, and Prader-Willi syndrome.
4 d and reliable in the molecular diagnosis of Prader-Willi syndrome.
5 es POMC circuit deficits in a mouse model of Prader-Willi Syndrome.
6  is linked to the neurodevelopmental disease Prader-Willi syndrome.
7 o how they contribute to the pathogenesis of Prader-Willi syndrome.
8 of several that are deleted in patients with Prader-Willi syndrome.
9 range imprinted gene expression resulting in Prader-Willi syndrome.
10 l as patients presenting with trisomy 21 and Prader-Willi syndrome.
11 y in children with chronic renal failure and Prader-Willi syndrome.
12 me of the clinical features of the polygenic Prader-Willi syndrome.
13 somy, accounts for >95% of all patients with Prader-Willi syndrome.
14 comparable to that of Williams, Angelman and Prader-Willi syndromes.
15 large deletions associated with Angelman and Prader-Willi syndromes.
16  the region commonly deleted in Angelman and Prader-Willi syndromes.
17                                           In Prader-Willi syndrome, 2 years of growth hormone therapy
18 HLH2 gene is associated with obesity; and in Prader-Willi syndrome, a condition characterized by obes
19 small population that is selectively lost in Prader-Willi syndrome, a condition involving insatiable
20 , and loss of MAGEL2 is also associated with Prader-Willi syndrome, a neurodevelopmental genetic diso
21 everal neurobehavioural disorders, including Prader-Willi syndrome, affective disorders and obsessive
22                                              Prader-Willi syndrome and Angelman syndrome are associat
23                 The most common etiology for Prader-Willi syndrome and Angelman syndrome is de novo i
24 ment of neurodevelopmental disorders such as Prader-Willi syndrome and autism.
25 enetic neurodevelopmental syndromes, such as Prader-Willi syndrome and septo-optic dysplasia.
26 ole of recombinant growth hormone therapy in Prader-Willi syndrome and the genetic information respon
27 tein that suppresses obesity associated with Prader-Willi syndrome - and reduced HFD-induced non-alco
28 sychological disorders, such as Angelman and Prader-Willi syndromes, and autism spectrum disorder.
29        The most common individual ImpDis are Prader-Willi syndrome, Angelman syndrome and Beckwith-Wi
30 ndromes involving brain dysfunction, such as Prader-Willi syndrome, Angelman syndrome, Turner's syndr
31 chromosome 15 (inv dup[15]) that include the Prader-Willi syndrome/Angelman syndrome (PWS/AS) chromos
32                                          The Prader-Willi syndrome/Angelman syndrome (PWS/AS) imprint
33 nd asymmetry of L1 elements at the imprinted Prader-Willi syndrome/Angelman syndrome (PWS/AS) locus o
34 3a-ATS but not any imprinting defects in the Prader-Willi syndrome/Angelman syndrome region.
35  literature the predictors of self-injury in Prader-Willi syndrome are becoming more refined.
36  therapy for children with Down syndrome and Prader-Willi syndrome as an example.
37                                 The Angelman/Prader-Willi syndrome (AS/PWS) domain contains at least
38 '/B levels in response to the loss of SmN in Prader-Willi syndrome brain tissue, potentially reducing
39 t demonstrated several manifestations of the Prader-Willi syndrome but was clinically atypical.
40 nd might also be therapeutically relevant to Prader-Willi syndrome, characterized after infancy by hy
41 lly expressed, imprinted gene located in the Prader-Willi syndrome critical region (chromosome 15q11-
42 ternally expressed transcripts mapped to the Prader-Willi syndrome critical region.
43                                          The Prader-Willi syndrome IC (PWS-IC) on human chromosome 15
44 n syndrome imprinting center (AS-IC) and the Prader-Willi syndrome imprinting center (PWS-IC).
45  are known to be positively regulated by the Prader-Willi syndrome imprinting center (PWS-IC).
46 cy and conditions such as Turner's syndrome, Prader-Willi syndrome, intrauterine growth restriction,
47                                              Prader-Willi syndrome is a complex neurodevelopmental di
48                                              Prader-Willi syndrome is a developmental disorder with d
49             The neurodevelopmental disorder, Prader-Willi syndrome, is generally regarded as a geneti
50                                Children with Prader-Willi syndrome lack a paternally derived copy of
51 e nuclei to distinguish between Angelman and Prader-Willi syndrome patient samples with uniparental d
52 ately regulated imprinted domain affected in Prader-Willi syndrome patients with imprinting mutations
53 or within, a region commonly deleted in most Prader-Willi syndrome patients.
54 e by an upstream break may contribute to the Prader-Willi syndrome phenotype and that expression of S
55 sponsible for other aspects of the classical Prader-Willi syndrome phenotype.
56                                              Prader-Willi syndrome (PWS) and Angelman syndrome (AS) a
57                                              Prader-Willi syndrome (PWS) and Angelman syndrome (AS) a
58                                              Prader-Willi syndrome (PWS) and Angelman syndrome (AS) a
59                                              Prader-Willi syndrome (PWS) and Angelman syndrome (AS) a
60                                              Prader-Willi syndrome (PWS) and Angelman syndrome (AS) a
61                                              Prader-Willi syndrome (PWS) and Angelman syndrome (AS) a
62                                              Prader-Willi syndrome (PWS) and Angelman syndrome (AS) a
63                                              Prader-Willi syndrome (PWS) and Angelman syndrome (AS) a
64    Imprinted gene expression associated with Prader-Willi syndrome (PWS) and Angelman syndrome (AS) i
65                                              Prader-Willi syndrome (PWS) and Angelman syndrome (AS) r
66  in the human genome are associated with the Prader-Willi Syndrome (PWS) and Beckwith-Wiedemann Syndr
67 n is a candidate for a role in the imprinted Prader-Willi syndrome (PWS) and PWS mouse models.
68   Human chromosome 15q11-q13 encompasses the Prader-Willi syndrome (PWS) and the Angelman syndrome (A
69                   Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are neurodevelopmental disor
70 ted genes such as Angelman syndrome (AS) and Prader-Willi syndrome (PWS) can have a mutation in the i
71 es in prefrontal cortex (PFC) of donors with Prader-Willi syndrome (PWS) compared to controls and exa
72 receptor stimuli are absent in patients with Prader-Willi syndrome (PWS) during wakefulness.
73                                          The Prader-Willi syndrome (PWS) genetic interval contains se
74 d hypogonadism, in whom diagnostic tests for Prader-Willi syndrome (PWS) had been negative.
75                           Some patients with Prader-Willi Syndrome (PWS) have symptoms of constipatio
76 rowth hormone (hGH) therapy in children with Prader-Willi syndrome (PWS) improves linear growth, body
77                                              Prader-Willi syndrome (PWS) is a complex disorder that m
78                                              Prader-Willi syndrome (PWS) is a complex genetic disorde
79                                              Prader-Willi syndrome (PWS) is a complex neurobehavioral
80                                              Prader-Willi syndrome (PWS) is a genetic disorder charac
81                                              Prader-Willi syndrome (PWS) is a genetic neurodevelopmen
82                                              Prader-Willi syndrome (PWS) is a genomic imprinting diso
83                                              Prader-Willi syndrome (PWS) is a neurobehavioral and epi
84                                              Prader-Willi syndrome (PWS) is a neurobehavioral disorde
85                                              Prader-Willi syndrome (PWS) is a neurobehavioural disord
86                                              Prader-Willi syndrome (PWS) is a neurodevelopmental diso
87                                              Prader-Willi syndrome (PWS) is a rare neurodevelopmental
88                                              Prader-Willi syndrome (PWS) is an imprinting disorder ca
89                                              Prader-Willi syndrome (PWS) is caused by a loss of pater
90                                              Prader-Willi syndrome (PWS) is caused by alterations of
91                                              Prader-Willi syndrome (PWS) is caused by deficiency for
92                                              Prader-Willi syndrome (PWS) is caused by deficient expre
93                                          The Prader-Willi syndrome (PWS) is caused by genomic alterat
94                                              Prader-Willi syndrome (PWS) is caused by lack of paterna
95                                              Prader-Willi syndrome (PWS) is caused by loss of paterna
96                                              Prader-Willi syndrome (PWS) is caused by paternal defici
97                                              Prader-Willi syndrome (PWS) is caused by the absence of
98                                              Prader-Willi Syndrome (PWS) is caused by the loss of exp
99                                              Prader-Willi syndrome (PWS) is characterized by neonatal
100                                              Prader-Willi syndrome (PWS) is most often the result of
101                                              Prader-Willi syndrome (PWS) is the predominant genetic c
102                                              Prader-Willi syndrome (PWS) is the prototypic genomic di
103  at a cluster of four imprinted genes in the Prader-Willi syndrome (PWS) locus on chromosome 7 and ge
104 egion or by uniparental disomy 15 results in Prader-Willi syndrome (PWS) or Angelman syndrome (AS), r
105 ave been identified in several families with Prader-Willi syndrome (PWS) or Angelman syndrome who sho
106        We also explored ARCOs generated from Prader-Willi syndrome (PWS) patient iPSCs.
107                   A novel locus in the human Prader-Willi syndrome (PWS) region encodes the imprinted
108                               A patient with Prader-Willi syndrome (PWS) was found to carry a de novo
109 the smallest deletion region involved in the Prader-Willi syndrome (PWS) within chromosome 15q11-q13.
110                                              Prader-Willi syndrome (PWS), a disorder of genomic impri
111                                              Prader-Willi syndrome (PWS), a genetic disorder of obesi
112 ewborn screening for Angelman syndrome (AS), Prader-Willi syndrome (PWS), and chromosome 15 duplicati
113 human neurodevelopmental disorders including Prader-Willi syndrome (PWS), Angelman syndrome (AS) and
114 ps to the chromosomal region associated with Prader-Willi Syndrome (PWS), are highly enriched in the
115 ifferent age and sex alongside patients with Prader-Willi syndrome (PWS), Beckwith-Wiedemann syndrome
116  genes are deleted in most patients with the Prader-Willi syndrome (PWS), diminished HTR2C receptor a
117                                              Prader-Willi syndrome (PWS), most notably characterized
118 ponsible for both Angelman syndrome (AS) and Prader-Willi syndrome (PWS), two clinically distinct neu
119 ead to neurodevelopmental disorders, such as Prader-Willi syndrome (PWS), which results from the dele
120  gene expression from this region results in Prader-Willi syndrome (PWS), while absence of maternal g
121 estigated in Autism Spectrum Disorder (ASD), Prader-Willi Syndrome (PWS), Williams Syndrome (WS) and
122 iseases with high prevalence of autism, like Prader-Willi Syndrome (PWS).
123 in hyperphagic behaviors in individuals with Prader-Willi syndrome (PWS).
124 ncidence and treatment of vision problems in Prader-Willi syndrome (PWS).
125 linked to task switching in individuals with Prader-Willi syndrome (PWS).
126 nits have been implicated as a cause for the Prader-Willi syndrome (PWS).
127 ary to cause the neurodevelopmental disorder Prader-Willi syndrome (PWS).
128 G), a neurodevelopmental disorder related to Prader-Willi syndrome (PWS).
129 tein N) locus may result in the phenotype of Prader-Willi syndrome (PWS).
130 prominent characteristic of individuals with Prader-Willi syndrome (PWS).
131 nally derived gene expression and results in Prader-Willi syndrome (PWS).
132                                          The Prader-Willi syndrome (PWS)/Angelman syndrome (AS) regio
133  Although MAGEL2 is deleted in most cases of Prader-Willi syndrome (PWS, OMIM #176270), SYS presents
134 script), H19, and IPW (imprinted gene in the Prader-Willi syndrome region), which are transcribed but
135 aternal contribution from the locus, whereas Prader-Willi syndrome results from the absence of patern
136 eletions found in most cases of Angelman and Prader Willi syndrome, the duplications appear to be med
137                MAGEL2 is also inactivated in Prader-Willi syndrome, which overlaps clinically and mec
138     Patients with Angelman syndrome (AS) and Prader-Willi syndrome with mutations in the imprinting p

 
Page Top