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1                                              BWS is thought to involve one or more imprinted genes, s
2                                              BWS patients enrolled onto NWTS 4 had smaller tumors tha
3                                              BWS patients were more likely to present with lower-stag
4 though SSCP analysis of 62 WT samples and 10 BWS patients did not result in the identification of any
5 arm-up exercise followed by completion of 13 BWS tasks.
6  II (IGF2), which was found in 2 of 10 (20%) BWS patients, even though LOI of IGF2 occurs frequently
7                    Similarly, 21 of 36 (58%) BWS patients showed loss of maternal allele-specific met
8 ese associations were still significant in a BWS subgroup with KvDMR1 LOM, suggesting that the G alle
9            These data suggest that KIP2 is a BWS gene but that it is not uniquely equivalent to the 1
10 was abrogated in TGF-beta-defective mice and BWS, resulting in TERT overexpression.
11 amine their expression pattern in tumors and BWS patients, since epigenetic alteration at these loci
12  in some cases, altered imprinting in WT and BWS.
13 eristics and outcome of patients with WT and BWS.
14 n cancer and in epigenetic syndromes such as BWS and skewed X-inactivation.
15                                         Both BWS and LOS involve misregulation of imprinted genes.
16 ix of 149 cases were reported from a British BWS registry; the same numbers were recorded in a French
17 ons, in any of these suppressors could cause BWS.
18 en inherited maternally, the deletion causes BWS with silencing of p57(KIP2), indicating deletion of
19 lated, genes, we generated a mouse model for BWS that both harbors a null mutation in p57(Kip2) and d
20 ) mice provide an important animal model for BWS, as well as sporadic cancers associated with it, inc
21 hway and is responsible at least in part for BWS-associated tumorigenesis as well as sporadic human c
22 uggesting that Kvlqt1 is not responsible for BWS.
23                   By positional cloning from BWS breakpoints, we have isolated a gene 100 kb and 65 k
24 TERT) were overexpressed in fibroblasts from BWS patients and TGF-beta-defective mice.
25 ch enrolled patient, whether the patient had BWS.
26 lled onto NWTS 3 and 4 were reported to have BWS.
27  manner, a finding that may help explain how BWS can arise from mutations in either gene.
28 SP is a new potential causal factor in human BWS patients.
29  most common constitutional abnormalities in BWS are epigenetic, involving abnormal methylation of ei
30 IT1 is the most common genetic alteration in BWS.
31 P2), alterations in which are more common in BWS, and a more telomeric domain including IGF2, alterat
32 s, translocations, or methylation defects in BWS have so far been found in three of the linked matern
33 S; however, a role of TGF-beta deficiency in BWS-associated neoplastic transformation is unexplored.
34 date the only genetic mutations described in BWS are in the CDKN1C gene.
35  suppressing functions that are disrupted in BWS and embryonal tumors.
36 locus in LOS, the most common epimutation in BWS.
37 importance of Igf2 and H19 mis-expression in BWS phenotypes.
38 in conformations are differently favoured in BWS and SRS likely predisposing the locus to the activat
39 ions and CTCF--cohesin binding at the ICR in BWS and SRS together with DNA methylation correlate with
40 ated by CTCF, and this regulation is lost in BWS, leading to aberrant overexpression of growth-promot
41 t the hypothesis that loss of methylation in BWS patients activates the repressive function of KvDMR1
42  many phenotypic characteristics observed in BWS patients, suggesting that beta2SP mutant mice phenoc
43 g of the IGF2 gene is frequently observed in BWS, as is reduced CDKN1C expression related to loss of
44 ld be associated with specific phenotypes in BWS.
45 s disrupted by chromosomal rearrangements in BWS patients, as well as by a balanced chromosomal trans
46 ion of the importance of this gene region in BWS.
47 ine an epigenotype-phenotype relationship in BWS, in which aberrant methylation of H19 and LIT1 and U
48                      We further show that in BWS and SRS cells, there is opposing chromatin looping c
49         Although p57KIP2 was undetectable in BWS tongue, similar results were also observed in postna
50                 Eight of sixteen informative BWS patients (50%) showed biallelic expression, i.e., lo
51 that LOS is a multilocus LOI syndrome, as is BWS.
52                         We previously mapped BWS, by genetic linkage analysis, to 11p15.5, which we a
53  and characterized a mouse model that mimics BWS microdeletions to define the role of the deleted seq
54 st within the KvLQT1 locus, because multiple BWS-associated chromosome rearrangements disrupt this ge
55 d showed biallelic expression in one of nine BWS patients studied.
56 ly reported to show mutations in two of nine BWS patients.
57  results were also observed in postnatal non-BWS tongue samples.
58 NWTS 3 (P =.02), a trend not seen in the non-BWS patients.
59                         Approximately 20% of BWS cases have uniparental disomy (UPD) of chromosome 11
60 ific expression and/or methylation in 20% of BWS patients, and p57KIP2, a cyclin-dependent kinase inh
61 st or lymphocyte DNA; whereas, in 4 cases of BWS with H19 hypermethylation, methylation at KvDMRl was
62                            Among 12 cases of BWS with normal H19 methylation, 5 showed demethylation
63 ain of the KIP2 gene in one of five cases of BWS.
64  mice display many of the characteristics of BWS, including placentomegaly and dysplasia, kidney dysp
65     Most primary skin fibroblast cultures of BWS cell lines exhibited normal imprinting of p57KIP2.
66 l silencing of CDKN1C and the development of BWS.
67           Finally, there were no features of BWS, suggesting that Kvlqt1 is not responsible for BWS.
68 l allele may cause at least some features of BWS.
69 c characteristics of the most common form of BWS, including loss of methylation at KvDMR1 and biallel
70                              The genetics of BWS have implicated a gene that maps to chromosome 11p15
71 ollow muscle development in a mouse model of BWS to dissect the separate and shared roles for misexpr
72 al characteristics and treatment outcomes of BWS patients compared with patients with WT without BWS.
73 addition, the precise phenotypic spectrum of BWS might depend on which maternally expressed gene is m
74                                  A subset of BWS patients has been identified with loss-of-function m
75 f IGF2 can result in most of the symptoms of BWS.
76  that are phenotypically similar to those of BWS patients.
77                                 However, one BWS patient did show LOI of p57KIP2 in skin fibroblasts.
78 uggesting that beta2SP mutant mice phenocopy BWS, and beta2SP loss could be one of the mechanisms ass
79 hat the maternal allele is disrupted in rare BWS patients with balanced germ-line chromosomal rearran
80 ration leads to IC2 LOM and causes recurrent BWS.
81 gh KvDMR1 may be an underlying cause of some BWS cases.
82                                  In sporadic BWS cases the majority of patients have epimutations in
83        DNA samples from a cohort of sporadic BWS patients and healthy controls were genotyped for the
84 rchitecture of IC2 in patients with sporadic BWS caused by isolated LOM to identify conserved feature
85 e regression (BKMR), Bayesian Weighted Sums (BWS), and weighted quantile sum (WQS) regression.
86 t angles; the amount of body weight support (BWS); and lower limb loading.
87 associated with Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS), depending on the
88 nting disorders Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS).
89 owth disorders, Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS).
90  in the region, Beckwith-Wiedemann syndrome (BWS) and Wilms tumor are each associated with loss of ma
91 mental disorder Beckwith Wiedemann Syndrome (BWS) and with several cancers.
92   Children with Beckwith-Wiedemann syndrome (BWS) are at increased risk for developing Wilms' tumor (
93 m patients with Beckwith-Wiedemann syndrome (BWS) have been mapped to 11p15.5 between p57KIP2 and IGF
94 gh incidence of Beckwith-Wiedemann syndrome (BWS) in children conceived with ARTs.
95                 Beckwith-Wiedemann syndrome (BWS) is a clinically variable disorder characterized by
96                 Beckwith-Wiedemann syndrome (BWS) is a congenital cancer-predisposition syndrome asso
97                 Beckwith-Wiedemann syndrome (BWS) is a fetal overgrowth disorder involving the deregu
98                 Beckwith-Wiedemann syndrome (BWS) is a hereditary human cancer stem cell syndrome cur
99                 Beckwith-Wiedemann syndrome (BWS) is a human stem cell disorder, and individuals with
100                 Beckwith-Wiedemann syndrome (BWS) is a model human imprinting disorder resulting from
101                 Beckwith-Wiedemann syndrome (BWS) is an autosomal dominant disorder of increased pren
102             The Beckwith-Wiedemann syndrome (BWS) is genetically linked to chromosome 11p15.5, and a
103             The Beckwith-Wiedemann syndrome (BWS) is marked by fetal organ overgrowth and conveys a p
104 o the imprinted Beckwith-Wiedemann syndrome (BWS) locus at 11p15.5.
105 e human disease Beckwith-Wiedemann syndrome (BWS) may disrupt CDKN1C expression.
106 drome (PWS) and Beckwith-Wiedemann Syndrome (BWS) where imprinting is known to be a contributing fact
107 m patients with Beckwith-Wiedemann syndrome (BWS), a condition characterized by prenatal overgrowth a
108 ases, including Beckwith-Wiedemann syndrome (BWS), a disorder of prenatal overgrowth and predispositi
109 s with sporadic Beckwith-Wiedemann syndrome (BWS), a fetal overgrowth syndrome associated with an imp
110 features of the Beckwith-Wiedemann syndrome (BWS), a genetically complex human disorder associated wi
111 inting leads to Beckwith-Wiedemann syndrome (BWS), an overgrowth and cancer predisposition condition.
112 n patients with Beckwith-Wiedemann syndrome (BWS), which causes prenatal overgrowth and cancer.
113                 Beckwith-Wiedemann syndrome (BWS), which causes prenatal overgrowth, midline abdomina
114 tal disorder is Beckwith-Wiedemann syndrome (BWS), which increases risk for embryonal cancers, includ
115                 Beckwith-Wiedemann syndrome (BWS), which predisposes to cancer and excessive growth,
116 f patients with Beckwith-Wiedemann syndrome (BWS), which predisposes to WT and also involves LOI of I
117 ition condition Beckwith-Wiedemann syndrome (BWS).
118 t tumors and in Beckwith-Wiedemann syndrome (BWS).
119 rowth syndrome, Beckwith-Wiedemann syndrome (BWS).
120 er-predisposing Beckwith-Wiedemann syndrome (BWS).
121 growth disorder Beckwith-Wiedemann Syndrome (BWS).
122 ssociated with Beckwith--Wiedemann syndrome (BWS).
123 sorders such as Beckwith-Wiedemann syndrome (BWS).
124 yndrome-namely, Beckwith-Wiedemann syndrome (BWS).
125 human disease, Beckwith--Wiedemann syndrome (BWS).
126 ith chromosomal rearrangements, suggest that BWS can involve disruption of multiple independent 11p15
127                                          The BWS mutation was an in-frame three-amino-acid deletion t
128 band that encompassed the ABCC8 gene and the BWS locus.
129 auses deregulation of imprinted genes at the BWS locus on 11p15.5.
130       The overall treatment outcomes for the BWS patients were nearly identical to those without BWS,
131 K9me3 and H4K20me3 becoming biallelic in the BWS and H3K4me2, H3K27me3 and H3K9ac together with CTCF-
132 ge to the Beckwith-Weidemann syndrome of the BWS region on the short arm of chromosome 11.
133  we performed a case-cohort study, using the BWS Registry.
134                                   Therefore, BWS in humans may result from disruption of appropriate
135 5 kb centromeric to the proximal end of this BWS breakpoint cluster and p57KIP2, respectively.
136                               In contrast to BWS and Wilms tumor, these syndromes do not show any par
137  screen for other genetic predispositions to BWS, the conserved sequences between human and mouse dif
138 n-exon boundaries of p57KIP2 in 40 unrelated BWS patients.
139                             Similarly, using BWS, the PFAS mixture was associated with increased TNF-
140  the overgrowth syndrome Beckwith-Wiedemann (BWS).
141 LOI) overgrowth syndrome Beckwith-Wiedemann (BWS).
142     The only known mutations associated with BWS are maternally transmitted translocations, which are
143 ional epigenetic alterations associated with BWS have been well characterized and include epigenetic
144 ansmission of hIC1 mutations associated with BWS in mice.
145 cific epigenetic alterations associated with BWS-four at LIT1 and one at both LIT1 and H19.
146 uld be one of the mechanisms associated with BWS.
147 -beta signaling, is causally associated with BWS; however, a role of TGF-beta deficiency in BWS-assoc
148     We analyzed a cohort of 52 children with BWS and UPD using a panel of microsatellite markers for
149 ly lower than the frequency in children with BWS and Wilms tumor, 79% (11/14; P = .0028).
150 nal epigenotypes from those of children with BWS and Wilms tumor.
151     Like children without BWS, children with BWS and WT have an excellent prognosis with modern treat
152               A total of seven children with BWS were born after ART-five of whom were conceived afte
153 ng phenotypically, but not genetically, with BWS.
154                One third of individuals with BWS lose maternal-specific methylation at KvDMR1, a puta
155          In the majority of individuals with BWS, maternal-specific methylation at KvDMR1 is absent a
156          Other studies associate KVLQT1 with BWS.
157     The cohort consisted of 92 patients with BWS and molecular analysis of both H19 and LIT1, and the
158            Overall, 21% of the patients with BWS had bilateral disease, either at diagnosis (nine of
159 t, and that in the majority of patients with BWS, LIT1 is abnormally expressed from both the paternal
160  and other tumors, and in some patients with BWS.
161                        Like children without BWS, children with BWS and WT have an excellent prognosi
162 ients were nearly identical to those without BWS, with overall survival at 4 years from diagnosis at
163 ients compared with patients with WT without BWS.

 
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