-
2
-
-
0025738681
-
Uniparental paternal disomy in a genetic cancer-predisposing syndrome
-
Henry I, Bonaiti-Pellié C, Chehensse V et al. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 1991: 351: 665-667.
-
(1991)
Nature
, vol.351
, pp. 665-667
-
-
Henry, I.1
Bonaiti-Pellié, C.2
Chehensse, V.3
-
3
-
-
0027999665
-
Mosaic uniparental disomy in Beckwith-Wiedemann syndrome
-
Slatter RE, Elliott M, Welham K et al. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. J Med Genet 1994: 31: 749-753.
-
(1994)
J Med Genet
, vol.31
, pp. 749-753
-
-
Slatter, R.E.1
Elliott, M.2
Welham, K.3
-
4
-
-
0030988472
-
Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome
-
Catchpoole D, Lam WW, Valler D et al. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. J Med Genet 1997: 34: 353-359.
-
(1997)
J Med Genet
, vol.34
, pp. 353-359
-
-
Catchpoole, D.1
Lam, W.W.2
Valler, D.3
-
5
-
-
0033975096
-
Beckwith-Wiedemann syndrome: imprinting in clusters revisited
-
Maher ER, Reik W Beckwith-Wiedemann syndrome: imprinting in clusters revisited. J Clin Invest 2000: 105: 247-262.
-
(2000)
J Clin Invest
, vol.105
, pp. 247-262
-
-
Maher, E.R.1
Reik, W.2
-
6
-
-
0033529207
-
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome
-
Smilinich NJ, Day CD, Fitzpatrick GV et al. A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proc Natl Acad Sci USA 1999: 96: 8064-8069.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 8064-8069
-
-
Smilinich, N.J.1
Day, C.D.2
Fitzpatrick, G.V.3
-
7
-
-
0033609117
-
Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting
-
Lee MP, DeBaun MR, Mitsuya K et al. Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting. Proc Natl Acad Sci USA 1999: 96: 5203-5208.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 5203-5208
-
-
Lee, M.P.1
DeBaun, M.R.2
Mitsuya, K.3
-
8
-
-
0036831864
-
Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1
-
Fitzpatrick GV, Soloway PD, Higgins MJ. Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1. Nat Genet 2002: 32: 426-431.
-
(2002)
Nat Genet
, vol.32
, pp. 426-431
-
-
Fitzpatrick, G.V.1
Soloway, P.D.2
Higgins, M.J.3
-
9
-
-
67349253397
-
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
-
Bliek J, Verde G, Callaway J et al. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet 2009: 17: 611-619.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 611-619
-
-
Bliek, J.1
Verde, G.2
Callaway, J.3
-
10
-
-
0034967806
-
Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome
-
Gaston V, Le Bouc Y, Soupre V et al. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome. Eur J Hum Genet 2001: 9: 409-418.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 409-418
-
-
Gaston, V.1
Le Bouc, Y.2
Soupre, V.3
-
11
-
-
18444407168
-
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome
-
Weksberg R, Shuman C, Caluseriu O et al. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet 2002: 11: 1317-1325.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1317-1325
-
-
Weksberg, R.1
Shuman, C.2
Caluseriu, O.3
-
12
-
-
33645458987
-
New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome
-
Smith AC, Rubin T, Shuman C et al. New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome. Cytogenet Genome Res 2006: 113: 313-317.
-
(2006)
Cytogenet Genome Res
, vol.113
, pp. 313-317
-
-
Smith, A.C.1
Rubin, T.2
Shuman, C.3
-
13
-
-
0028964550
-
Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome
-
Orstavik RE, Tommerup N, Eiklid K et al. Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome. Am J Med Genet 1995: 56: 210-214.
-
(1995)
Am J Med Genet
, vol.56
, pp. 210-214
-
-
Orstavik, R.E.1
Tommerup, N.2
Eiklid, K.3
-
14
-
-
33645749049
-
On the probability of dizygotic twins being concordant for two alleles at multiple polymorphic loci
-
Nyholt DR. On the probability of dizygotic twins being concordant for two alleles at multiple polymorphic loci. Twin Res Hum Genet 2006: 9: 194-197.
-
(2006)
Twin Res Hum Genet
, vol.9
, pp. 194-197
-
-
Nyholt, D.R.1
-
15
-
-
0034162161
-
Symmetric and asymmetric DNA methylation in the human IGF2-H19 region.
-
Vu TH, Li T, Nguyen D et al. Symmetric and asymmetric DNA methylation in the human IGF2-H19 region. Genomics 2000: 64: 132-143.
-
(2000)
Genomics
, vol.64
, pp. 132-143
-
-
Vu, T.H.1
Li, T.2
Nguyen, D.3
-
16
-
-
33645458987
-
New chromosome 11p15 epigenotypes identified in male monocygotic twins with Beckwith Wiedemann-syndrome
-
Smith AC, Rubin T, Shuman C et al. New chromosome 11p15 epigenotypes identified in male monocygotic twins with Beckwith Wiedemann-syndrome. Cytogenet Genome Res 2006: 113: 313-317.
-
(2006)
Cytogenet Genome Res
, vol.113
, pp. 313-317
-
-
Smith, A.C.1
Rubin, T.2
Shuman, C.3
-
17
-
-
0027405811
-
Clinical phenotypes and Wilms tumor
-
Clericuzio CL. Clinical phenotypes and Wilms tumor. Med Pediatr Oncol 1993: 21: 182-187.
-
(1993)
Med Pediatr Oncol
, vol.21
, pp. 182-187
-
-
Clericuzio, C.L.1
-
19
-
-
70450242951
-
Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells
-
Bliek J, Alders M, Maas SM et al. Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells. Eur J Hum Genet 2009: 17: 1625-1634.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 1625-1634
-
-
Bliek, J.1
Alders, M.2
Maas, S.M.3
-
20
-
-
0036264337
-
Flow cytometry as a new method to quantify the cellular content of human saliva and its relation to gingivitis
-
Aps JK, Van den Maagdenberg K, Delanghe JR, Martens LC. Flow cytometry as a new method to quantify the cellular content of human saliva and its relation to gingivitis. Clin Chim Acta 2002: 321(1-2): 35-41.
-
(2002)
Clin Chim Acta
, vol.321
, Issue.1-2
, pp. 35-41
-
-
Aps, J.K.1
Van den Maagdenberg, K.2
Delanghe, J.R.3
Martens, L.C.4
-
21
-
-
36349015367
-
Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations
-
Sasaki K, Soejima H, Higashimoto K et al. Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations. Eur J Hum Genet 2007: 15: 1205-1210.
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 1205-1210
-
-
Sasaki, K.1
Soejima, H.2
Higashimoto, K.3
-
22
-
-
27244436752
-
Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome
-
Cooper WN, Luharia A, Evans GA et al. Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome. Eur J Hum Genet 2005: 13: 1025-1032.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 1025-1032
-
-
Cooper, W.N.1
Luharia, A.2
Evans, G.A.3
-
23
-
-
65549151250
-
Inherited and sporadic epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor.
-
Riccio A, Sparago A, Verde G et al. Inherited and sporadic epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor. Endocr Dev 2009: 14: 1-9.
-
(2009)
Endocr Dev
, vol.14
, pp. 1-9
-
-
Riccio, A.1
Sparago, A.2
Verde, G.3
-
24
-
-
70450162112
-
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russel Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci
-
Azzi S, Rossignol S, Steunou V et al. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russel Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet 2009: 18: 4724-4733.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4724-4733
-
-
Azzi, S.1
Rossignol, S.2
Steunou, V.3
-
25
-
-
33846157180
-
The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region
-
Rossignol S, Steunou V, Chalas C et al. The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region. J Med Genet 2006: 43: 902-907.
-
(2006)
J Med Genet
, vol.43
, pp. 902-907
-
-
Rossignol, S.1
Steunou, V.2
Chalas, C.3
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