-
1
-
-
33947228917
-
Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and Wilms' tumorigenesis
-
1:CAS:528:DC%2BD2sXitlSjsbw%3D 17325026 10.1158/0008-5472.CAN-06-3383
-
Algar EM, St Heaps L, Darmanian A, Dagar V, Prawitt D, Peters GB, Collins F (2007) Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and Wilms' tumorigenesis. Cancer Res 67:2360-2365
-
(2007)
Cancer Res
, vol.67
, pp. 2360-2365
-
-
Algar, E.M.1
St Heaps, L.2
Darmanian, A.3
Dagar, V.4
Prawitt, D.5
Peters, G.B.6
Collins, F.7
-
2
-
-
83655181891
-
An 11p15 imprinting centre region 2 deletion in a family with Beckwith Wiedemann syndrome provides insights into imprinting control at CDKN1C
-
1:CAS:528:DC%2BC38XjvFSmsQ%3D%3D 3242768 22205991 10.1371/journal.pone. 0029034
-
Algar E, Dagar V, Sebaj M, Pachter N (2011) An 11p15 imprinting centre region 2 deletion in a family with Beckwith Wiedemann syndrome provides insights into imprinting control at CDKN1C. PLoS One 6:e29034
-
(2011)
PLoS One
, vol.6
, pp. 29034
-
-
Algar, E.1
Dagar, V.2
Sebaj, M.3
Pachter, N.4
-
3
-
-
70350620718
-
Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions
-
1:STN:280:DC%2BD1MjksVanuw%3D%3D 19735747 10.1016/j.ejmg.2009.08.006
-
Bliek J, Snijder S, Maas SM, Polstra A, van der Lip K, Alders M, Knegt AC, Mannens MM (2009) Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions. Eur J Med Genet 52:404-408
-
(2009)
Eur J Med Genet
, vol.52
, pp. 404-408
-
-
Bliek, J.1
Snijder, S.2
Maas, S.M.3
Polstra, A.4
Van Der Lip, K.5
Alders, M.6
Knegt, A.C.7
Mannens, M.M.8
-
4
-
-
79952055492
-
Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family
-
1:CAS:528:DC%2BC3cXhtl2ksr7O 20028213 10.2350/09-07-0686-CR.1
-
Cardarelli L, Sparago A, De Crescenzo A, Nalesso E, Zavan B, Cubellis MV, Selicorni A, Cavicchioli P, Pozzan GB, Petrella M, Riccio A (2010) Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family. Pediatr Dev Pathol 13:326-330
-
(2010)
Pediatr Dev Pathol
, vol.13
, pp. 326-330
-
-
Cardarelli, L.1
Sparago, A.2
De Crescenzo, A.3
Nalesso, E.4
Zavan, B.5
Cubellis, M.V.6
Selicorni, A.7
Cavicchioli, P.8
Pozzan, G.B.9
Petrella, M.10
Riccio, A.11
-
5
-
-
43049102044
-
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour
-
1:CAS:528:DC%2BD1cXltl2jtbc%3D 18245780 10.1093/hmg/ddn031
-
Cerrato F, Sparago A, Verde G, De Crescenzo A, Citro V, Cubellis MV, Rinaldi MM, Boccuto L, Neri G, Magnani C, D'Angelo P, Collini P, Perotti D, Sebastio G, Maher ER, Riccio A (2008) Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour. Hum Mol Genet 17:1427-1435
-
(2008)
Hum Mol Genet
, vol.17
, pp. 1427-1435
-
-
Cerrato, F.1
Sparago, A.2
Verde, G.3
De Crescenzo, A.4
Citro, V.5
Cubellis, M.V.6
Rinaldi, M.M.7
Boccuto, L.8
Neri, G.9
Magnani, C.10
D'Angelo, P.11
Collini, P.12
Perotti, D.13
Sebastio, G.14
Maher, E.R.15
Riccio, A.16
-
6
-
-
83455213564
-
The KCNQ1OT1 imprinting control region and non-coding RNA: New properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases
-
21920939 10.1093/hmg/ddr419
-
Chiesa N, De Crescenzo A, Mishra K, Perone L, Carella M, Palumbo O, Mussa A, Sparago A, Cerrato F, Russo S, Lapi E, Cubellis MV, Kanduri C, Cirillo Silengo M, Riccio A, Ferrero GB (2012) The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases. Hum Mol Genet 21:10-25
-
(2012)
Hum Mol Genet
, vol.21
, pp. 10-25
-
-
Chiesa, N.1
De Crescenzo, A.2
Mishra, K.3
Perone, L.4
Carella, M.5
Palumbo, O.6
Mussa, A.7
Sparago, A.8
Cerrato, F.9
Russo, S.10
Lapi, E.11
Cubellis, M.V.12
Kanduri, C.13
Cirillo Silengo, M.14
Riccio, A.15
Ferrero, G.B.16
-
7
-
-
27244436752
-
Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome
-
1:CAS:528:DC%2BD2MXovVOiurc%3D 15999116 10.1038/sj.ejhg.5201463
-
Cooper WN, Luharia A, Evans GA, Raza H, Haire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J, Schofield PN, Reik W, Macdonald F, Maher ER (2005) Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome. Eur J Hum Genet 13:1025-1032
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 1025-1032
-
-
Cooper, W.N.1
Luharia, A.2
Evans, G.A.3
Raza, H.4
Haire, A.C.5
Grundy, R.6
Bowdin, S.C.7
Riccio, A.8
Sebastio, G.9
Bliek, J.10
Schofield, P.N.11
Reik, W.12
Macdonald, F.13
Maher, E.R.14
-
8
-
-
79960093417
-
A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome
-
3133689 21571108 10.1016/j.ejmg.2011.04.009
-
De Crescenzo A, Coppola F, Falco P, Bernardo I, Ausanio G, Cerrato F, Falco L, Riccio A (2011) A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome. Eur J Med Genet 54:e451-e454
-
(2011)
Eur J Med Genet
, vol.54
-
-
De Crescenzo, A.1
Coppola, F.2
Falco, P.3
Bernardo, I.4
Ausanio, G.5
Cerrato, F.6
Falco, L.7
Riccio, A.8
-
9
-
-
33646346610
-
Epigenetic deregulation of imprinting in congenital diseases of aberrant growth
-
1:CAS:528:DC%2BD28XkvVyjs78%3D 16615080 10.1002/bies.20407
-
Delaval K, Wagschal A, Feil R (2006) Epigenetic deregulation of imprinting in congenital diseases of aberrant growth. Bioessays 28:453-459
-
(2006)
Bioessays
, vol.28
, pp. 453-459
-
-
Delaval, K.1
Wagschal, A.2
Feil, R.3
-
10
-
-
77950523023
-
Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders
-
1:CAS:528:DC%2BC3cXhs1Kgurk%3D 20007505 10.1093/hmg/ddp549
-
Demars J, Shmela ME, Rossignol S, Okabe J, Netchine I, Azzi S, Cabrol S, Le Caignec C, David A, Le Bouc Y, El-Osta A, Gicquel C (2010) Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders. Hum Mol Genet 19:803-814
-
(2010)
Hum Mol Genet
, vol.19
, pp. 803-814
-
-
Demars, J.1
Shmela, M.E.2
Rossignol, S.3
Okabe, J.4
Netchine, I.5
Azzi, S.6
Cabrol, S.7
Le Caignec, C.8
David, A.9
Le Bouc, Y.10
El-Osta, A.11
Gicquel, C.12
-
11
-
-
80052965152
-
New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects
-
1:CAS:528:DC%2BC3MXhtF2jtb3L 21780245 10.1002/humu.21558
-
Demars J, Rossignol S, Netchine I, Lee KS, Shmela M, Faivre L, Weill J, Odent S, Azzi S, Callier P, Lucas J, Dubourg C, Andrieux J, Le Bouc Y, El-Osta A, Gicquel C (2011) New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects. Hum Mutat 32:1171-1182
-
(2011)
Hum Mutat
, vol.32
, pp. 1171-1182
-
-
Demars, J.1
Rossignol, S.2
Netchine, I.3
Lee, K.S.4
Shmela, M.5
Faivre, L.6
Weill, J.7
Odent, S.8
Azzi, S.9
Callier, P.10
Lucas, J.11
Dubourg, C.12
Andrieux, J.13
Le Bouc, Y.14
El-Osta, A.15
Gicquel, C.16
-
12
-
-
33748157127
-
Beckwith-Wiedemann syndrome: Multiple molecular mechanisms
-
16842655 10.1017/S1462399406000020
-
Enklaar T, Zabel BU, Prawitt D (2006) Beckwith-Wiedemann syndrome: multiple molecular mechanisms. Expert Rev Mol Med 8:1-19
-
(2006)
Expert Rev Mol Med
, vol.8
, pp. 1-19
-
-
Enklaar, T.1
Zabel, B.U.2
Prawitt, D.3
-
13
-
-
0035874984
-
Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations
-
1:CAS:528:DC%2BD3MXksVChs70%3D 11414765 10.1006/geno.2001.6549
-
Li M, Squire J, Shuman C, Fei YL, Atkin J, Pauli R, Smith A, Nishikawa J, Chitayat D, Weksberg R (2001) Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations. Genomics 74:370-376
-
(2001)
Genomics
, vol.74
, pp. 370-376
-
-
Li, M.1
Squire, J.2
Shuman, C.3
Fei, Y.L.4
Atkin, J.5
Pauli, R.6
Smith, A.7
Nishikawa, J.8
Chitayat, D.9
Weksberg, R.10
-
14
-
-
6344263978
-
Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome
-
1:CAS:528:DC%2BD2cXptVSns7c%3D 1182113 15372379 10.1086/425343
-
Niemitz EL, DeBaun MR, Fallon J, Murakami K, Kugoh H, Oshimura M, Feinberg AP (2004) Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. Am J Hum Genet 75:844-849
-
(2004)
Am J Hum Genet
, vol.75
, pp. 844-849
-
-
Niemitz, E.L.1
Debaun, M.R.2
Fallon, J.3
Murakami, K.4
Kugoh, H.5
Oshimura, M.6
Feinberg, A.P.7
-
15
-
-
84855812755
-
Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1
-
1:CAS:528:DC%2BC38XnslWqsg%3D%3D 21863054 10.1038/ejhg.2011.166
-
Poole RL, Leith DJ, Docherty LE, Shmela ME, Gicquel C, Splitt M, Temple IK, Mackay DJ (2012) Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1. Eur J Hum Genet 20:240-243
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 240-243
-
-
Poole, R.L.1
Leith, D.J.2
Docherty, L.E.3
Shmela, M.E.4
Gicquel, C.5
Splitt, M.6
Temple, I.K.7
Mackay, D.J.8
-
16
-
-
23044514627
-
Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor
-
1:CAS:528:DC%2BD2MXmsFKmtLY%3D 16049499 10.1038/ng0805-785
-
Prawitt D, Enklaar T, Gartner-Rupprecht B, Spangenberg C, Lausch E, Reutzel D, Fees S, Korzon M, Brozek I, Limon J, Housman DE, Pelletier J, Zabel B (2005) Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor. Nat Genet 37:785-786
-
(2005)
Nat Genet
, vol.37
, pp. 785-786
-
-
Prawitt, D.1
Enklaar, T.2
Gartner-Rupprecht, B.3
Spangenberg, C.4
Lausch, E.5
Reutzel, D.6
Fees, S.7
Korzon, M.8
Brozek, I.9
Limon, J.10
Housman, D.E.11
Pelletier, J.12
Zabel, B.13
-
17
-
-
42649101672
-
MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment
-
1:CAS:528:DC%2BD1cXltFeit7Y%3D 18212817 10.1038/sj.ejhg.5202001
-
Priolo M, Sparago A, Mammi C, Cerrato F, Lagana C, Riccio A (2008) MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment. Eur J Hum Genet 16:565-571
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 565-571
-
-
Priolo, M.1
Sparago, A.2
Mammi, C.3
Cerrato, F.4
Lagana, C.5
Riccio, A.6
-
18
-
-
0035234557
-
Genomic imprinting: Parental influence on the genome
-
1:CAS:528:DC%2BD3MXisVGjs70%3D 11253064 10.1038/35047554
-
Reik W, Walter J (2001) Genomic imprinting: parental influence on the genome. Nat Rev Genet 2:21-32
-
(2001)
Nat Rev Genet
, vol.2
, pp. 21-32
-
-
Reik, W.1
Walter, J.2
-
19
-
-
33847254533
-
Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region
-
1:STN:280:DC%2BD28vlvFOitQ%3D%3D 16882733 10.1136/jmg.2005.038398
-
Russo S, Finelli P, Recalcati MP, Ferraiuolo S, Cogliati F, Dalla Bernardina B, Tibiletti MG, Agosti M, Sala M, Bonati MT, Larizza L (2006) Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region. J Med Genet 43:e39
-
(2006)
J Med Genet
, vol.43
, pp. 39
-
-
Russo, S.1
Finelli, P.2
Recalcati, M.P.3
Ferraiuolo, S.4
Cogliati, F.5
Dalla Bernardina, B.6
Tibiletti, M.G.7
Agosti, M.8
Sala, M.9
Bonati, M.T.10
Larizza, L.11
-
20
-
-
39149142187
-
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation
-
1:CAS:528:DC%2BD1cXjt1WntLY%3D 18245390 10.1136/jmg.2007.053207
-
Scott RH, Douglas J, Baskcomb L, Nygren AO, Birch JM, Cole TR, Cormier-Daire V, Eastwood DM, Garcia-Minaur S, Lupunzina P, Tatton-Brown K, Bliek J, Maher ER, Rahman N (2008) Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation. J Med Genet 45:106-113
-
(2008)
J Med Genet
, vol.45
, pp. 106-113
-
-
Scott, R.H.1
Douglas, J.2
Baskcomb, L.3
Nygren, A.O.4
Birch, J.M.5
Cole, T.R.6
Cormier-Daire, V.7
Eastwood, D.M.8
Garcia-Minaur, S.9
Lupunzina, P.10
Tatton-Brown, K.11
Bliek, J.12
Maher, E.R.13
Rahman, N.14
-
21
-
-
37249076439
-
Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15
-
18000906 10.1002/ajmg.a.32030
-
Smith AC, Shuman C, Chitayat D, Steele L, Ray PN, Bourgeois J, Weksberg R (2007) Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15. Am J Med Genet A 143A:3010-3015
-
(2007)
Am J Med Genet A
, vol.143
, pp. 3010-3015
-
-
Smith, A.C.1
Shuman, C.2
Chitayat, D.3
Steele, L.4
Ray, P.N.5
Bourgeois, J.6
Weksberg, R.7
-
22
-
-
4444365791
-
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome
-
1:CAS:528:DC%2BD2cXntFSkurk%3D 15314640 10.1038/ng1410
-
Sparago A, Cerrato F, Vernucci M, Ferrero GB, Silengo MC, Riccio A (2004) Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Nat Genet 36:958-960
-
(2004)
Nat Genet
, vol.36
, pp. 958-960
-
-
Sparago, A.1
Cerrato, F.2
Vernucci, M.3
Ferrero, G.B.4
Silengo, M.C.5
Riccio, A.6
-
23
-
-
33847306554
-
Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour
-
1:CAS:528:DC%2BD2sXhtlKjtb8%3D 17158821 10.1093/hmg/ddl448
-
Sparago A, Russo S, Cerrato F, Ferraiuolo S, Castorina P, Selicorni A, Schwienbacher C, Negrini M, Ferrero GB, Silengo MC, Anichini C, Larizza L, Riccio A (2007) Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour. Hum Mol Genet 16:254-264
-
(2007)
Hum Mol Genet
, vol.16
, pp. 254-264
-
-
Sparago, A.1
Russo, S.2
Cerrato, F.3
Ferraiuolo, S.4
Castorina, P.5
Selicorni, A.6
Schwienbacher, C.7
Negrini, M.8
Ferrero, G.B.9
Silengo, M.C.10
Anichini, C.11
Larizza, L.12
Riccio, A.13
-
26
-
-
77953688482
-
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus
-
1:CAS:528:DC%2BC3cXpsVygsbk%3D 19843502 10.1136/jmg.2009.071142
-
Zollino M, Orteschi D, Marangi G, De Crescenzo A, Pecile V, Riccio A, Neri G (2010) A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. J Med Genet 47:429-432
-
(2010)
J Med Genet
, vol.47
, pp. 429-432
-
-
Zollino, M.1
Orteschi, D.2
Marangi, G.3
De Crescenzo, A.4
Pecile, V.5
Riccio, A.6
Neri, G.7
|