-
1
-
-
70450162112
-
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci
-
Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, Le Jule M, Heinrichs C, Cabrol S, Gicquel C, Le Bouc Y, Netchine I. 2009. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet 18:4724-4733.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4724-4733
-
-
Azzi, S.1
Rossignol, S.2
Steunou, V.3
Sas, T.4
Thibaud, N.5
Danton, F.6
Le Jule, M.7
Heinrichs, C.8
Cabrol, S.9
Gicquel, C.10
Le Bouc, Y.11
Netchine, I.12
-
2
-
-
62149105139
-
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes
-
Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A. 2009. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes. J Med Genet 46:192-197.
-
(2009)
J Med Genet
, vol.46
, pp. 192-197
-
-
Bartholdi, D.1
Krajewska-Walasek, M.2
Ounap, K.3
Gaspar, H.4
Chrzanowska, K.H.5
Ilyana, H.6
Kayserili, H.7
Lurie, I.W.8
Schinzel, A.9
Baumer, A.10
-
3
-
-
67349253397
-
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
-
Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis MV, Larizza L, Temple IK, Mannens MM, Mackay DJ, Riccio A. 2009. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet 17:611-619.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 611-619
-
-
Bliek, J.1
Verde, G.2
Callaway, J.3
Maas, S.M.4
De Crescenzo, A.5
Sparago, A.6
Cerrato, F.7
Russo, S.8
Ferraiuolo, S.9
Rinaldi, M.M.10
Fischetto, R.11
Lalatta, F.12
Giordano, L.13
Ferrari, P.14
Cubellis, M.V.15
Larizza, L.16
Temple, I.K.17
Mannens, M.M.18
Mackay, D.J.19
Riccio, A.20
more..
-
4
-
-
0032930759
-
Type-2 IGF receptor: A multi-ligand binding protein
-
Braulke T. 1999. Type-2 IGF receptor: A multi-ligand binding protein. Horm Metab Res 31:242-246.
-
(1999)
Horm Metab Res
, vol.31
, pp. 242-246
-
-
Braulke, T.1
-
5
-
-
66049151670
-
Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation
-
Eggermann T, Gonzalez D, Spengler S, Arslan-Kirchner M, Binder G, Schöonherr N. 2009. Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. Pediatrics 123:929-931.
-
(2009)
Pediatrics
, vol.123
, pp. 929-931
-
-
Eggermann, T.1
Gonzalez, D.2
Spengler, S.3
Arslan-Kirchner, M.4
Binder, G.5
Schöonherr, N.6
-
6
-
-
1442308477
-
Epigenetic abnormalities of the mannose-6-phosphate/IGF2 receptor gene are uncommon in human overgrowth syndromes
-
Gicquel C, Weiss J, Amiel J, Gaston V, Le Bouc Y, Scott CD. 2004. Epigenetic abnormalities of the mannose-6-phosphate/IGF2 receptor gene are uncommon in human overgrowth syndromes. J Med Genet 41:e4.
-
(2004)
J Med Genet
, vol.41
-
-
Gicquel, C.1
Weiss, J.2
Amiel, J.3
Gaston, V.4
Le Bouc, Y.5
Scott, C.D.6
-
7
-
-
0027180213
-
The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans
-
Kalscheuer VM, Mariman EC, Schepens MT, Rehder H, Ropers HH. 1993. The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans. Nat Genet 5:74-78.
-
(1993)
Nat Genet
, vol.5
, pp. 74-78
-
-
Kalscheuer, V.M.1
Mariman, E.C.2
Schepens, M.T.3
Rehder, H.4
Ropers, H.H.5
-
8
-
-
33746563985
-
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
-
Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Geneviève D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC, Sistermans EA, de Vries BB, van Bokhoven H. 2006. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.Am J Hum Genet 79:370-377.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 370-377
-
-
Kleefstra, T.1
Brunner, H.G.2
Amiel, J.3
Oudakker, A.R.4
Nillesen, W.M.5
Magee, A.6
Geneviève, D.7
Cormier-Daire, V.8
Van Esch, H.9
Fryns, J.P.10
Hamel, B.C.11
Sistermans, E.A.12
De Vries, B.B.13
Van Bokhoven, H.14
-
9
-
-
33746972820
-
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus
-
Mackay DJ, Boonen SE, Clayton-Smith J, Goodship J, Hahnemann JM, Kant SG, Njølstad PR, Robin NH, Robinson DO, Siebert R, Shield JP, White HE, Temple IK. 2006. A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum Genet 120:262-269.
-
(2006)
Hum Genet
, vol.120
, pp. 262-269
-
-
Mackay, D.J.1
Boonen, S.E.2
Clayton-Smith, J.3
Goodship, J.4
Hahnemann, J.M.5
Kant, S.G.6
Njølstad, P.R.7
Robin, N.H.8
Robinson, D.O.9
Siebert, R.10
Shield, J.P.11
White, H.E.12
Temple, I.K.13
-
10
-
-
48349092985
-
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
-
Mackay DJG, Callaway JLA, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK. 2008. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet 40:949-951.
-
(2008)
Nat Genet
, vol.40
, pp. 949-951
-
-
Mackay, D.J.G.1
Callaway, J.L.A.2
Marks, S.M.3
White, H.E.4
Acerini, C.L.5
Boonen, S.E.6
Dayanikli, P.7
Firth, H.V.8
Goodship, J.A.9
Haemers, A.P.10
Hahnemann, J.M.11
Kordonouri, O.12
Masoud, A.F.13
Oestergaard, E.14
Storr, J.15
Ellard, S.16
Hattersley, A.T.17
Robinson, D.O.18
Temple, I.K.19
-
11
-
-
77952671659
-
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci
-
Turner CLS, Mackay DJG, Callaway JLA, Docherty LE, Poole RL, Bullman H, Lever M, Castle BM, Kivuva EC, Turnpenny PD, Mehta SG, Mansour S, Madden J, Davies JH, Temple IKT. 2010. Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci. Eur J Hum Genet 18:648-655.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 648-655
-
-
Turner, C.L.S.1
Mackay, D.J.G.2
Callaway, J.L.A.3
Docherty, L.E.4
Poole, R.L.5
Bullman, H.6
Lever, M.7
Castle, B.M.8
Kivuva, E.C.9
Turnpenny, P.D.10
Mehta, S.G.11
Mansour, S.12
Madden, J.13
Davies, J.H.14
Temple, I.K.T.15
-
12
-
-
0027999284
-
Regulation of embryonic growth and lysosomal targeting by the imprinted Igf2/Mpr gene
-
Wang ZQ, Fung MR, Barlow DP, Wagner EF. 1994. Regulation of embryonic growth and lysosomal targeting by the imprinted Igf2/Mpr gene. Nature 372:464-467.
-
(1994)
Nature
, vol.372
, pp. 464-467
-
-
Wang, Z.Q.1
Fung, M.R.2
Barlow, D.P.3
Wagner, E.F.4
-
13
-
-
0030889737
-
Aberrant imprinting of the insulin-like growth factor II receptor gene in Wilms' tumor
-
Xu YQ, Grundy P, Polychronakos C. 1997. Aberrant imprinting of the insulin-like growth factor II receptor gene in Wilms' tumor. Oncogene 14:1041-1046.
-
(1997)
Oncogene
, vol.14
, pp. 1041-1046
-
-
Xu, Y.Q.1
Grundy, P.2
Polychronakos, C.3
-
14
-
-
56149111804
-
Identification of the human homolog of the imprinted mouse air non-coding RNA
-
Yotova IY, Vlatkovic IM, Pauler FM, Warczok KE, Ambros PF, Oshimura M, Theussl HC, Gessler M, Wagner EF, Barlow DP. 2008. Identification of the human homolog of the imprinted mouse air non-coding RNA. Genomics 92:464-473.
-
(2008)
Genomics
, vol.92
, pp. 464-473
-
-
Yotova, I.Y.1
Vlatkovic, I.M.2
Pauler, F.M.3
Warczok, K.E.4
Ambros, P.F.5
Oshimura, M.6
Theussl, H.C.7
Gessler, M.8
Wagner, E.F.9
Barlow, D.P.10
-
15
-
-
0035134738
-
Epigenetic change in IGF2R is associated with fetal overgrowth after sheep embryo culture
-
Young LE, Fernandes K, McEvoy TG, Butterwith SC, Gutierrez CG, Carolan C, Broadbent PJ, Robinson JJ, Wilmut I, Sinclair KD. 2001. Epigenetic change in IGF2R is associated with fetal overgrowth after sheep embryo culture. Nat Genet 27:153-154.
-
(2001)
Nat Genet
, vol.27
, pp. 153-154
-
-
Young, L.E.1
Fernandes, K.2
McEvoy, T.G.3
Butterwith, S.C.4
Gutierrez, C.G.5
Carolan, C.6
Broadbent, P.J.7
Robinson, J.J.8
Wilmut, I.9
Sinclair, K.D.10
|