-
1
-
-
0026778316
-
Genetic aspects of the Klippel-Trenaunay syndrome
-
Aelvoet GE, Jorens PG, Roelen LM (1992) Genetic aspects of the Klippel-Trenaunay syndrome. Br J Dermatol 126: 603-607
-
(1992)
Br J Dermatol
, vol.126
, pp. 603-607
-
-
Aelvoet, G.E.1
Jorens, P.G.2
Roelen, L.M.3
-
2
-
-
0029806141
-
Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway
-
Brown KW, Villar AJ, Bickmore W, Clayton-Smith J, Catchpoole D, Maher ER, Reik W (1996) Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway. Hum Mol Genet 5:2027-2032
-
(1996)
Hum Mol Genet
, vol.5
, pp. 2027-2032
-
-
Brown, K.W.1
Villar, A.J.2
Bickmore, W.3
Clayton-Smith, J.4
Catchpoole, D.5
Maher, E.R.6
Reik, W.7
-
3
-
-
0030941038
-
Expression and parental imprinting of the H19 gene in human rhabdomyosarcoma
-
Casola S, Pedone PV, Cavazzana AO, Basso G, Luksch R, d'Amore ESG, Carli M, et al (1997) Expression and parental imprinting of the H19 gene in human rhabdomyosarcoma. Oncogene 14:1503-1510
-
(1997)
Oncogene
, vol.14
, pp. 1503-1510
-
-
Casola, S.1
Pedone, P.V.2
Cavazzana, A.O.3
Basso, G.4
Luksch, R.5
D'Amore, E.S.G.6
Carli, M.7
-
4
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
-
Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
-
(1987)
Anal Biochem
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
5
-
-
0025320906
-
A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting
-
De Chiara TM, Efstratiadis A, Robertson EJ (1990) A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting. Nature 345:78-80
-
(1990)
Nature
, vol.345
, pp. 78-80
-
-
De Chiara, T.M.1
Efstratiadis, A.2
Robertson, E.J.3
-
6
-
-
0025939939
-
DNA typing and genetic mapping with trimeric and tetrameric tandem repeats
-
Edwards A, Civitello A, Hammond HA, Caskey CT (1991) DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. Am J Hum Genet 49:746-756
-
(1991)
Am J Hum Genet
, vol.49
, pp. 746-756
-
-
Edwards, A.1
Civitello, A.2
Hammond, H.A.3
Caskey, C.T.4
-
7
-
-
0030660180
-
Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes
-
Eggenschwiler J, Ludwig T, Fisher P, Leighton PA, Tilghman SM, Efstratiadis A (1997) Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes. Genes Dev 11:3128-3142
-
(1997)
Genes Dev
, vol.11
, pp. 3128-3142
-
-
Eggenschwiler, J.1
Ludwig, T.2
Fisher, P.3
Leighton, P.A.4
Tilghman, S.M.5
Efstratiadis, A.6
-
8
-
-
0033118754
-
Imprinting of a genomic domain of 11p15 and loss of imprinting in cancer: An introduction
-
Feinberg AP (1999) Imprinting of a genomic domain of 11p15 and loss of imprinting in cancer: an introduction. Cancer Res 59:1743S-1746S
-
(1999)
Cancer Res
, vol.59
-
-
Feinberg, A.P.1
-
9
-
-
0021381028
-
A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity
-
Feinberg AP, Vogelstein B (1984) A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 137:266-267
-
(1984)
Anal Biochem
, vol.137
, pp. 266-267
-
-
Feinberg, A.P.1
Vogelstein, B.2
-
10
-
-
0002438565
-
Lymphocyte culture
-
Rooney DE, Czepulkowski BH (eds). Oxford University Press, Oxford
-
Gosden CM, Davidson C, Robertson M (1982) Lymphocyte culture. In: Rooney DE, Czepulkowski BH (eds) Human cytogenetics: a practical approach, 2d ed. Oxford University Press, Oxford, pp 31-56
-
(1982)
Human Cytogenetics: A Practical Approach, 2d Ed
, pp. 31-56
-
-
Gosden, C.M.1
Davidson, C.2
Robertson, M.3
-
11
-
-
0027339603
-
Klippel-Trenaunay syndrome: Is it a para-dominant trait?
-
Happle R (1993) Klippel-Trenaunay syndrome: is it a para-dominant trait? Br J Dermatol 128:465-466
-
(1993)
Br J Dermatol
, vol.128
, pp. 465-466
-
-
Happle, R.1
-
12
-
-
0027523066
-
A study of the origin of "shadow bands" seen when typing dinucleotide repeat polymorphisms by the PCR
-
Haugé XY, Litt M (1993) A study of the origin of "shadow bands" seen when typing dinucleotide repeat polymorphisms by the PCR. Hum Mol Genet 2:411-415
-
(1993)
Hum Mol Genet
, vol.2
, pp. 411-415
-
-
Haugé, X.Y.1
Litt, M.2
-
14
-
-
0030734880
-
Modulation of Igf2 genomic imprinting in mice induced by 5-azacytidine, an inhibitor of DNA methylation
-
Hu JF, Nguyen PH, Pham NV, Vu TH, Hoffman AR (1997) Modulation of Igf2 genomic imprinting in mice induced by 5-azacytidine, an inhibitor of DNA methylation. Mol Endocrinol 11:1891-1898
-
(1997)
Mol Endocrinol
, vol.11
, pp. 1891-1898
-
-
Hu, J.F.1
Nguyen, P.H.2
Pham, N.V.3
Vu, T.H.4
Hoffman, A.R.5
-
15
-
-
0032552995
-
The role of histone acetylation in the allelic expression of the imprinted human insulin-like growth factor II gene
-
Hu JF, Oruganti H, Vu TH, Hoffman AR (1998) The role of histone acetylation in the allelic expression of the imprinted human insulin-like growth factor II gene. Biochem Biophys Res Commun 251:403-408
-
(1998)
Biochem Biophys Res Commun
, vol.251
, pp. 403-408
-
-
Hu, J.F.1
Oruganti, H.2
Vu, T.H.3
Hoffman, A.R.4
-
16
-
-
0030827119
-
Imprinting of IGF2 and H19: Lack of reciprocity in sporadic Beckwith-Wiedemann syndrome
-
Joyce JA, Lam WK, Catchpoole DJ, Jenks P, Reik W, Maher ER, Schofield PN (1997) Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome. Hum Mol Genet 6:1543-1548
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1543-1548
-
-
Joyce, J.A.1
Lam, W.K.2
Catchpoole, D.J.3
Jenks, P.4
Reik, W.5
Maher, E.R.6
Schofield, P.N.7
-
17
-
-
0028575985
-
Loss of the imprinted IGF2/cation-independent mannose 6-phosphate receptor results in fetal overgrowth and perinatal lethality
-
Lau MM, Stewart CE, Liu Z, Bhatt H, Rotwein P, Stewart CL (1994) Loss of the imprinted IGF2/cation-independent mannose 6-phosphate receptor results in fetal overgrowth and perinatal lethality. Genes Dev 8:2953-2963
-
(1994)
Genes Dev
, vol.8
, pp. 2953-2963
-
-
Lau, M.M.1
Stewart, C.E.2
Liu, Z.3
Bhatt, H.4
Rotwein, P.5
Stewart, C.L.6
-
18
-
-
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, Galonek HL, Brandenburg S, Oshimura M, Feinberg AP (1999) 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 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
Galonek, H.L.4
Brandenburg, S.5
Oshimura, M.6
Feinberg, A.P.7
-
19
-
-
0029024277
-
Disruption of imprinting caused by deletion of the H19 gene region in mice
-
Leighton PA, Ingram RS, Eggenschwiler J, Efstratiadis A, Tilghmann SM (1995) Disruption of imprinting caused by deletion of the H19 gene region in mice. Nature 375:34-39
-
(1995)
Nature
, vol.375
, pp. 34-39
-
-
Leighton, P.A.1
Ingram, R.S.2
Eggenschwiler, J.3
Efstratiadis, A.4
Tilghmann, S.M.5
-
20
-
-
0031452521
-
Molecular genetics of Beckwith-Wiedemann syndrome
-
Li M, Squire JA, Weksberg R (1997) Molecular genetics of Beckwith-Wiedemann syndrome. Curr Opin Pediatr 9: 623-629
-
(1997)
Curr Opin Pediatr
, vol.9
, pp. 623-629
-
-
Li, M.1
Squire, J.A.2
Weksberg, R.3
-
21
-
-
0029939816
-
Somatic overgrowth associated with overexpression of insulin-like growth factor II
-
Morison IM, Becroft DM, Taniguchi T, Woods CG, Reeve AE (1996). Somatic overgrowth associated with overexpression of insulin-like growth factor II. Nat Med 2:311-316
-
(1996)
Nat Med
, vol.2
, pp. 311-316
-
-
Morison, I.M.1
Becroft, D.M.2
Taniguchi, T.3
Woods, C.G.4
Reeve, A.E.5
-
22
-
-
0028227938
-
Epigenetic lesions at the H19 locus in Wilms' tumour patients
-
Moulton T, Crenshaw T, Hao Y, Moosikasuwan J, Lin N, Dembitzer F, Hensle T, et al (1994) Epigenetic lesions at the H19 locus in Wilms' tumour patients. Nat Genet 7:440-447
-
(1994)
Nat Genet
, vol.7
, pp. 440-447
-
-
Moulton, T.1
Crenshaw, T.2
Hao, Y.3
Moosikasuwan, J.4
Lin, N.5
Dembitzer, F.6
Hensle, T.7
-
23
-
-
0032859153
-
Role of histone acetylation and DNA methylation in the maintenance of the imprinted expression of the H19 and Igf2 genes
-
Pedone PV, Pikaart MJ, Cerrato F, Vernucci M, Ungaro P, Bruni CB, Riccio A (1999) Role of histone acetylation and DNA methylation in the maintenance of the imprinted expression of the H19 and Igf2 genes. FEBS Lett 458:45-50
-
(1999)
FEBS Lett
, vol.458
, pp. 45-50
-
-
Pedone, P.V.1
Pikaart, M.J.2
Cerrato, F.3
Vernucci, M.4
Ungaro, P.5
Bruni, C.B.6
Riccio, A.7
-
24
-
-
0028240479
-
Mono- and bi-allelic expression of insulin-like growth factor II gene in human muscle tumors
-
Pedone PV, Tirabosco R, Cavazzana AO, Ungaro P, Basso G, Luksch R, Carli M, et al (1994) Mono- and bi-allelic expression of insulin-like growth factor II gene in human muscle tumors. Hum Mol Genet 7:11 17-1121
-
(1994)
Hum Mol Genet
, vol.7
, pp. 1117-1121
-
-
Pedone, P.V.1
Tirabosco, R.2
Cavazzana, A.O.3
Ungaro, P.4
Basso, G.5
Luksch, R.6
Carli, M.7
-
25
-
-
0027172683
-
Relaxation of imprinted genes in human cancer
-
Rainier S, Johnson LA, Dobry CJ, Ping AJ, Grundy PE, Feinberg AP (1993) Relaxation of imprinted genes in human cancer. Nature 362:747-749
-
(1993)
Nature
, vol.362
, pp. 747-749
-
-
Rainier, S.1
Johnson, L.A.2
Dobry, C.J.3
Ping, A.J.4
Grundy, P.E.5
Feinberg, A.P.6
-
26
-
-
0001766712
-
Insulin-like growth factors
-
Sporn MB, Roberts AB (eds). Springer-Verlag, New York
-
Rechler MM, Nissley SP (1990) Insulin-like growth factors. In: Sporn MB, Roberts AB (eds) Peptide growth factors and their receptors. Springer-Verlag, New York, pp 263-368
-
(1990)
Peptide Growth Factors and their Receptors
, pp. 263-368
-
-
Rechler, M.M.1
Nissley, S.P.2
-
27
-
-
0030856668
-
Imprinting in clusters: Lessons from Beckwith-Wiedemann syndrome
-
Reik W, Maher ER (1997) Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome. Trends Genet 13:330-334
-
(1997)
Trends Genet
, vol.13
, pp. 330-334
-
-
Reik, W.1
Maher, E.R.2
-
28
-
-
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, Caldwell GM, Lossie AC, Cooper PR, Smallwood AC, et al (1999) 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 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
Caldwell, G.M.4
Lossie, A.C.5
Cooper, P.R.6
Smallwood, A.C.7
-
29
-
-
0028356544
-
Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour
-
Steenman MJ, Rainier S, Dobry CJ, Grundy P, Horon IL, Feinberg AP (1994) Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour. Nat Genet 3:433-439
-
(1994)
Nat Genet
, vol.3
, pp. 433-439
-
-
Steenman, M.J.1
Rainier, S.2
Dobry, C.J.3
Grundy, P.4
Horon, I.L.5
Feinberg, A.P.6
-
30
-
-
0030735169
-
Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome
-
Sun FL, Dean WL, Kelsey G, Allen ND, Reik W (1997) Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome. Nature 389:809-815
-
(1997)
Nature
, vol.389
, pp. 809-815
-
-
Sun, F.L.1
Dean, W.L.2
Kelsey, G.3
Allen, N.D.4
Reik, W.5
-
31
-
-
0026334340
-
Polymerase chain reaction (PCR) for detection of ApaI polymorphism at the insulin-like growth factor II gene (IGF2)
-
Tadokoro K, Fujii H, Inoue T, Yamada M (1991) Polymerase chain reaction (PCR) for detection of ApaI polymorphism at the insulin-like growth factor II gene (IGF2). Nucleic Acids Res 19:6967
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 6967
-
-
Tadokoro, K.1
Fujii, H.2
Inoue, T.3
Yamada, M.4
-
32
-
-
0028935017
-
Epigenetic changes encompassing the IGF2/H19 locus associated with relaxation of IGF2 imprinting and silencing of H19 in Wilms tumor
-
Taniguchi T, Sullivan MJ, Ogawa O, Reeve AE (1995) Epigenetic changes encompassing the IGF2/H19 locus associated with relaxation of IGF2 imprinting and silencing of H19 in Wilms tumor. Proc Natl Acad Sci USA 92: 2159-2163
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 2159-2163
-
-
Taniguchi, T.1
Sullivan, M.J.2
Ogawa, O.3
Reeve, A.E.4
-
33
-
-
0032419812
-
Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2
-
Thorvaldsen JL, Duran KL, Bartolomei M (1998) Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2. Genes Dev 12: 3693-3702
-
(1998)
Genes Dev
, vol.12
, pp. 3693-3702
-
-
Thorvaldsen, J.L.1
Duran, K.L.2
Bartolomei, M.3
-
34
-
-
0033593288
-
The sins of the fathers and mothers: Genomic imprinting in mammalian development
-
Tilghman SM (1999) The sins of the fathers and mothers: genomic imprinting in mammalian development. Cell 96: 185-193
-
(1999)
Cell
, vol.96
, pp. 185-193
-
-
Tilghman, S.M.1
-
35
-
-
0029948828
-
Involvement of IGF-II in human cancer
-
Toretsky JA, Helman LJ (1996) Involvement of IGF-II in human cancer. J Endocrinol 149:367-372
-
(1996)
J Endocrinol
, vol.149
, pp. 367-372
-
-
Toretsky, J.A.1
Helman, L.J.2
-
36
-
-
0008600187
-
Overgrowth syndromes and disorders: Definition, classification, and discussion
-
Weaver DD (1994) Overgrowth syndromes and disorders: definition, classification, and discussion. Growth Genet Horm 10:1-6
-
(1994)
Growth Genet Horm
, vol.10
, pp. 1-6
-
-
Weaver, D.D.1
-
37
-
-
0027420362
-
Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome
-
Weksberg R, Shem DR, Song QL, Squire J (1993) Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nat Genet 5:143-150
-
(1993)
Nat Genet
, vol.5
, pp. 143-150
-
-
Weksberg, R.1
Shem, D.R.2
Song, Q.L.3
Squire, J.4
-
38
-
-
0028832284
-
Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation
-
Whelan AJ, Watson MS, Porter FD, Steiner RD (1995) Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation. Am J Med Genet 59:492-494
-
(1995)
Am J Med Genet
, vol.59
, pp. 492-494
-
-
Whelan, A.J.1
Watson, M.S.2
Porter, F.D.3
Steiner, R.D.4
|