-
1
-
-
33846933274
-
Gadd45a promotes epigenetic gene activation by repair-mediated DNA demethylation
-
Barreto G., Schafer A., Marhold J., Stach D., Swaminathan S.K., Handa V., Doderlein G., Maltry N., Wu W., Lyko F., and Niehrs C. Gadd45a promotes epigenetic gene activation by repair-mediated DNA demethylation. Nature 445 (2007) 671-675
-
(2007)
Nature
, vol.445
, pp. 671-675
-
-
Barreto, G.1
Schafer, A.2
Marhold, J.3
Stach, D.4
Swaminathan, S.K.5
Handa, V.6
Doderlein, G.7
Maltry, N.8
Wu, W.9
Lyko, F.10
Niehrs, C.11
-
2
-
-
0034103656
-
De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch
-
Bielinska B., Blaydes S.M., Buiting K., Yang T., Krajewska-Walasek M., Horsthemke B., and Brannan C.I. De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch. Nat. Genet. 25 (2000) 74-78
-
(2000)
Nat. Genet.
, vol.25
, pp. 74-78
-
-
Bielinska, B.1
Blaydes, S.M.2
Buiting, K.3
Yang, T.4
Krajewska-Walasek, M.5
Horsthemke, B.6
Brannan, C.I.7
-
3
-
-
0034931032
-
The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice
-
Bressler J., Tsai T.F., Wu M.Y., Tsai S.F., Ramirez M.A., Armstrong D., and Beaudet A.L. The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice. Nat. Genet. 28 (2001) 232-240
-
(2001)
Nat. Genet.
, vol.28
, pp. 232-240
-
-
Bressler, J.1
Tsai, T.F.2
Wu, M.Y.3
Tsai, S.F.4
Ramirez, M.A.5
Armstrong, D.6
Beaudet, A.L.7
-
4
-
-
0028939902
-
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
-
Buiting K., Saitoh S., Gross S., Dittrich B., Schwartz S., Nicholls R.D., and Horsthemke B. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat. Genet. 9 (1995) 395-400
-
(1995)
Nat. Genet.
, vol.9
, pp. 395-400
-
-
Buiting, K.1
Saitoh, S.2
Gross, S.3
Dittrich, B.4
Schwartz, S.5
Nicholls, R.D.6
Horsthemke, B.7
-
5
-
-
0032231460
-
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis
-
Buiting K., Dittrich B., Groß S., Lich C., Färber C., Buchholz T., Smith E., Reis A., Bürger J., Nöthen M.M., Barth-Witte U., Janssen B., et al. Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am. J. Hum. Genet. 63 (1998) 170-180
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 170-180
-
-
Buiting, K.1
Dittrich, B.2
Groß, S.3
Lich, C.4
Färber, C.5
Buchholz, T.6
Smith, E.7
Reis, A.8
Bürger, J.9
Nöthen, M.M.10
Barth-Witte, U.11
Janssen, B.12
-
6
-
-
0033396274
-
A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp
-
Buiting K., Lich C., Cottrell S., Barnicoat A., and Horsthemke B. A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp. Hum. Genet. 105 (1999) 665-666
-
(1999)
Hum. Genet.
, vol.105
, pp. 665-666
-
-
Buiting, K.1
Lich, C.2
Cottrell, S.3
Barnicoat, A.4
Horsthemke, B.5
-
7
-
-
0033819865
-
Imprinting centre (IC) deletions in two PWS families: Implications and strategies for diagnostic testing and genetic counselling
-
Buiting K., Färber C., Kroisel P., Wagner K., Brueton L., Robertson M.E., Lich C., and Horsthemke B. Imprinting centre (IC) deletions in two PWS families: Implications and strategies for diagnostic testing and genetic counselling. Clin. Genet. 58 (2000) 284-290
-
(2000)
Clin. Genet.
, vol.58
, pp. 284-290
-
-
Buiting, K.1
Färber, C.2
Kroisel, P.3
Wagner, K.4
Brueton, L.5
Robertson, M.E.6
Lich, C.7
Horsthemke, B.8
-
8
-
-
0035003096
-
Disruption of the bipartite imprinting center in a family with Angelman syndrome
-
Buiting K., Barnicoat A., Lich C., Pembrey M., Malcolmm S., and Horsthemke B. Disruption of the bipartite imprinting center in a family with Angelman syndrome. Am. J. Hum. Genet. 68 (2001) 1290-1294
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 1290-1294
-
-
Buiting, K.1
Barnicoat, A.2
Lich, C.3
Pembrey, M.4
Malcolmm, S.5
Horsthemke, B.6
-
9
-
-
0037371674
-
Epimutations in Prader-Willi and Angelman syndromes: A molecular study of 136 patients with an imprinting defect
-
Buiting K., Gross S., Lich C., Gillessen-Kaesbach G., El-Maarri O., and Horsthemke B. Epimutations in Prader-Willi and Angelman syndromes: A molecular study of 136 patients with an imprinting defect. Am. J. Hum. Genet. 72 (2003) 571-577
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 571-577
-
-
Buiting, K.1
Gross, S.2
Lich, C.3
Gillessen-Kaesbach, G.4
El-Maarri, O.5
Horsthemke, B.6
-
10
-
-
34247170346
-
C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain
-
Buiting K., Nazlican H., Galetzka D., Wawrzik M., Gross S., and Horsthemke B. C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain. Genomics 89 (2007) 588-595
-
(2007)
Genomics
, vol.89
, pp. 588-595
-
-
Buiting, K.1
Nazlican, H.2
Galetzka, D.3
Wawrzik, M.4
Gross, S.5
Horsthemke, B.6
-
11
-
-
0035336299
-
The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a
-
Chamberlain S.J., and Brannan C. The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a. Genomics. 73 (2001) 316-322
-
(2001)
Genomics.
, vol.73
, pp. 316-322
-
-
Chamberlain, S.J.1
Brannan, C.2
-
12
-
-
10144234124
-
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
-
Dittrich B., Buiting K., Korn B., Rickard S., Buxton J., Saitoh S., Nicholls R.D., Poustka A., Winterpacht A., Zabel B., and Horsthemke B. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat. Genet. 14 (1996) 163-170
-
(1996)
Nat. Genet.
, vol.14
, pp. 163-170
-
-
Dittrich, B.1
Buiting, K.2
Korn, B.3
Rickard, S.4
Buxton, J.5
Saitoh, S.6
Nicholls, R.D.7
Poustka, A.8
Winterpacht, A.9
Zabel, B.10
Horsthemke, B.11
-
13
-
-
0035090961
-
Maternal methylation imprints on human chromosome 15 are established during or after fertilization
-
El-Maarri O., Buiting K., Peery E.G., Kroisel P.M., Balaban B., Wagner K., Urman B., Heyd J., Lich C., Brannan C.I., Walter J., and Horsthemke B. Maternal methylation imprints on human chromosome 15 are established during or after fertilization. Nat. Genet. 27 (2001) 341-344
-
(2001)
Nat. Genet.
, vol.27
, pp. 341-344
-
-
El-Maarri, O.1
Buiting, K.2
Peery, E.G.3
Kroisel, P.M.4
Balaban, B.5
Wagner, K.6
Urman, B.7
Heyd, J.8
Lich, C.9
Brannan, C.I.10
Walter, J.11
Horsthemke, B.12
-
14
-
-
0018939994
-
A new genetic concept: Uniparental disomy and its potential effect, isodisomy
-
Engel E. A new genetic concept: Uniparental disomy and its potential effect, isodisomy. Am. J. Med. Genet. 6 (1980) 137-143
-
(1980)
Am. J. Med. Genet.
, vol.6
, pp. 137-143
-
-
Engel, E.1
-
15
-
-
0343238293
-
Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15
-
Färber C., Gross S., Neesen J., Buiting K., and Horsthemke B. Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15. Genomics. 65 (2000) 174-183
-
(2000)
Genomics.
, vol.65
, pp. 174-183
-
-
Färber, C.1
Gross, S.2
Neesen, J.3
Buiting, K.4
Horsthemke, B.5
-
16
-
-
15744401773
-
Eukaryotic cytosine methyltransferases
-
Goll M.G., and Bestor T.H. Eukaryotic cytosine methyltransferases. Annu. Rev. Biochem. 74 (2005) 481-514
-
(2005)
Annu. Rev. Biochem.
, vol.74
, pp. 481-514
-
-
Goll, M.G.1
Bestor, T.H.2
-
17
-
-
0032831340
-
A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect
-
Gillessen-Kaesbach G., Demuth S., Thiele H., Theile U., Lich C., and Horsthemke B. A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect. Eur. J. Hum. Genet. 7 (1999) 638-644
-
(1999)
Eur. J. Hum. Genet.
, vol.7
, pp. 638-644
-
-
Gillessen-Kaesbach, G.1
Demuth, S.2
Thiele, H.3
Theile, U.4
Lich, C.5
Horsthemke, B.6
-
18
-
-
26444564294
-
Assisted reproduction-the epigenetic perspective
-
Horsthemke B., and Ludwig M. Assisted reproduction-the epigenetic perspective. Hum. Reprod. Update. 11 (2005) 473-482
-
(2005)
Hum. Reprod. Update.
, vol.11
, pp. 473-482
-
-
Horsthemke, B.1
Ludwig, M.2
-
19
-
-
9444262002
-
Establishing the epigenetic status of the Prader-Willi/Angelman imprinting center in the gametes and embryo
-
Kantor B., Kaufman Y., Makedonski K., Razin A., and Shemer R. Establishing the epigenetic status of the Prader-Willi/Angelman imprinting center in the gametes and embryo. Hum. Mol. Genet. 13 (2004) 2767-2779
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2767-2779
-
-
Kantor, B.1
Kaufman, Y.2
Makedonski, K.3
Razin, A.4
Shemer, R.5
-
20
-
-
1842429127
-
Control elements within the PWS/AS imprinting box and their function in the imprinting process
-
Kantor B., Makedonski K., Green-Finberg Y., Shemer R., and Razin A. Control elements within the PWS/AS imprinting box and their function in the imprinting process. Hum. Mol. Genet. 13 (2004) 751-762
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 751-762
-
-
Kantor, B.1
Makedonski, K.2
Green-Finberg, Y.3
Shemer, R.4
Razin, A.5
-
21
-
-
33645971932
-
The role of histone modifications in epigenetic transitions during normal and perturbed development
-
Kubicek S., Schotta G., Lachner M., Sengupta R., Kohlmaier A., Perez-Burgos L., Linderson Y., Martens J.H., O'Sullivan R.J., Fodor B.D., Yonezawa M., Peters A.H., et al. The role of histone modifications in epigenetic transitions during normal and perturbed development. Ernst Schering Res. Found. Workshop. 57 (2006) 1-27
-
(2006)
Ernst Schering Res. Found. Workshop.
, vol.57
, pp. 1-27
-
-
Kubicek, S.1
Schotta, G.2
Lachner, M.3
Sengupta, R.4
Kohlmaier, A.5
Perez-Burgos, L.6
Linderson, Y.7
Martens, J.H.8
O'Sullivan, R.J.9
Fodor, B.D.10
Yonezawa, M.11
Peters, A.H.12
-
22
-
-
3042821931
-
Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn
-
Landers M., Bancescu D.L., Le Meur E., Rougeulle C., Glatt-Deeley H., Brannan C., Muscatelli F., and Lalande M. Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn. Nucl. Acids Res. 32 (2004) 3480-3492
-
(2004)
Nucl. Acids Res.
, vol.32
, pp. 3480-3492
-
-
Landers, M.1
Bancescu, D.L.2
Le Meur, E.3
Rougeulle, C.4
Glatt-Deeley, H.5
Brannan, C.6
Muscatelli, F.7
Lalande, M.8
-
23
-
-
0033810473
-
Familial Prader-Willi syndrome: Case report and a literature review
-
McEntagart M.E., Webb T., Hardy C., and King M.D. Familial Prader-Willi syndrome: Case report and a literature review. Clin. Genet. 58 (2000) 216-223
-
(2000)
Clin. Genet.
, vol.58
, pp. 216-223
-
-
McEntagart, M.E.1
Webb, T.2
Hardy, C.3
King, M.D.4
-
24
-
-
0021139084
-
Completion of mouse embryogenesis requires both the maternal and paternal genomes
-
McGrath J., and Solter D. Completion of mouse embryogenesis requires both the maternal and paternal genomes. Cell. 37 (1984) 179-183
-
(1984)
Cell.
, vol.37
, pp. 179-183
-
-
McGrath, J.1
Solter, D.2
-
25
-
-
0034192766
-
Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: Effects of imprinting
-
Ming J.E., Blagowidow N., Knoll J.H., Rollings L., Fortina P., McDonald-Mc-Ginn D.M., Spinner N.B., and Zackai E.H. Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: Effects of imprinting. Am. J. Med. Genet. 92 (2000) 19-24
-
(2000)
Am. J. Med. Genet.
, vol.92
, pp. 19-24
-
-
Ming, J.E.1
Blagowidow, N.2
Knoll, J.H.3
Rollings, L.4
Fortina, P.5
McDonald-Mc-Ginn, D.M.6
Spinner, N.B.7
Zackai, E.H.8
-
26
-
-
33644615366
-
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans
-
Murdoch S., Djuric U., Mazhar B., Seoud M., Khan R., Kuick R., Bagga R., Kircheisen R., Ao A., Ratti B., Hanash S., Rouleau G.A., et al. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat. Genet. 38 (2006) 300-302
-
(2006)
Nat. Genet.
, vol.38
, pp. 300-302
-
-
Murdoch, S.1
Djuric, U.2
Mazhar, B.3
Seoud, M.4
Khan, R.5
Kuick, R.6
Bagga, R.7
Kircheisen, R.8
Ao, A.9
Ratti, B.10
Hanash, S.11
Rouleau, G.A.12
-
27
-
-
8444240032
-
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect
-
Nazlican H., Zeschnigk M., Claussen U., Michel S., Boehringer S., Gillessen-Kaesbach G., Buiting K., and Horsthemke B. Somatic mosaicism in patients with Angelman syndrome and an imprinting defect. Hum. Mol. Genet. 13 (2004) 2547-2555
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2547-2555
-
-
Nazlican, H.1
Zeschnigk, M.2
Claussen, U.3
Michel, S.4
Boehringer, S.5
Gillessen-Kaesbach, G.6
Buiting, K.7
Horsthemke, B.8
-
28
-
-
6344263978
-
Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome
-
Niemitz E.L., DeBaun M.R., Fallon J., Murakami K., Kugoh H., Oshimura M., and Feinberg A.P. Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. Am. J. Hum. Genet. 75 (2004) 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
-
29
-
-
0033073395
-
Imprinting-mutation mechanisms in Prader-Willi syndrome
-
Ohta T., Gray T.A., Rogan P.K., Buiting K., Gabriel J.M., Saitoh S., Muralidhar B., Bilienska B., Krajewska-Walasek M., Driscoll D.J., Horsthemke B., Butler M.G., et al. Imprinting-mutation mechanisms in Prader-Willi syndrome. Am. J. Hum. Genet. 64 (1999) 397-413
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 397-413
-
-
Ohta, T.1
Gray, T.A.2
Rogan, P.K.3
Buiting, K.4
Gabriel, J.M.5
Saitoh, S.6
Muralidhar, B.7
Bilienska, B.8
Krajewska-Walasek, M.9
Driscoll, D.J.10
Horsthemke, B.11
Butler, M.G.12
-
30
-
-
0033070151
-
Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation
-
Ohta T., Buiting K., Kokkonen H., McCandless S., Heeger S., Leisti H., Driscoll D.J., Cassidy S.B., Horsthemke B., and Nicholls R.D. Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation. Am J Hum. Genet. 64 (1999) 385-396
-
(1999)
Am J Hum. Genet.
, vol.64
, pp. 385-396
-
-
Ohta, T.1
Buiting, K.2
Kokkonen, H.3
McCandless, S.4
Heeger, S.5
Leisti, H.6
Driscoll, D.J.7
Cassidy, S.B.8
Horsthemke, B.9
Nicholls, R.D.10
-
31
-
-
0036846536
-
The imprinting mechanism of the Prader-Willi/Angelman regional control center
-
Perk J., Makedonski K., Lande L., Cedar H., Razin A., and Shemer R. The imprinting mechanism of the Prader-Willi/Angelman regional control center. Embo J. 21 (2002) 5807-5814
-
(2002)
Embo J.
, vol.21
, pp. 5807-5814
-
-
Perk, J.1
Makedonski, K.2
Lande, L.3
Cedar, H.4
Razin, A.5
Shemer, R.6
-
32
-
-
20144363310
-
Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor
-
Prawitt D., Enklaar T., Gartner-Rupprecht B., Spangenberg C., Oswald M., Lausch E., Schmidtke P., Reutzel D., Fees S., Lucito R., Korzon M., Brozek I., et al. Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor. Proc. Natl. Acad. Sci. USA. 102 (2005) 4085-4090
-
(2005)
Proc. Natl. Acad. Sci. USA.
, vol.102
, pp. 4085-4090
-
-
Prawitt, D.1
Enklaar, T.2
Gartner-Rupprecht, B.3
Spangenberg, C.4
Oswald, M.5
Lausch, E.6
Schmidtke, P.7
Reutzel, D.8
Fees, S.9
Lucito, R.10
Korzon, M.11
Brozek, I.12
-
33
-
-
11444249801
-
Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome
-
Raca G., Buiting K., and Das S. Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome. Genetic Testing 8 (2004) 387-394
-
(2004)
Genetic Testing
, vol.8
, pp. 387-394
-
-
Raca, G.1
Buiting, K.2
Das, S.3
-
34
-
-
0035839126
-
Epigenetic reprogramming in mammalian development
-
Reik W., Dean W., and Walter J. Epigenetic reprogramming in mammalian development. Science 293 (2001) 1089-1093
-
(2001)
Science
, vol.293
, pp. 1089-1093
-
-
Reik, W.1
Dean, W.2
Walter, J.3
-
35
-
-
0032067559
-
An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript
-
Rougeulle C., Cardoso C., Fontes M., Colleaux L., and Lalande M. An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat. Genet. 19 (1998) 15-16
-
(1998)
Nat. Genet.
, vol.19
, pp. 15-16
-
-
Rougeulle, C.1
Cardoso, C.2
Fontes, M.3
Colleaux, L.4
Lalande, M.5
-
36
-
-
0035509699
-
The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
-
Runte M., Huttenhofer A., Gross S., Kiefmann M., Horsthemke B., and Buiting K. The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Hum. Mol. Genet. 10 (2001) 2687-2700
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2687-2700
-
-
Runte, M.1
Huttenhofer, A.2
Gross, S.3
Kiefmann, M.4
Horsthemke, B.5
Buiting, K.6
-
37
-
-
2942744481
-
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome
-
Runte M., Kroisel P.M., Gillessen-Kaesbach G., Varon R., Horn D., Cohen M.Y., Wagstaff J., Horsthemke B., and Buiting K. SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. Hum. Genet. 114 (2004) 553-561
-
(2004)
Hum. Genet.
, vol.114
, pp. 553-561
-
-
Runte, M.1
Kroisel, P.M.2
Gillessen-Kaesbach, G.3
Varon, R.4
Horn, D.5
Cohen, M.Y.6
Wagstaff, J.7
Horsthemke, B.8
Buiting, K.9
-
38
-
-
16044365355
-
Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations
-
Saitoh S., Buiting K., Rogan P.K., Buxton J.L., Driscoll D.J., Arnemann J., König R., Malcolm S., Horsthemke B., and Nicholls R.D. Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations. Proc. Natl. Acad. Sci. USA. 93 (1996) 7811-7815
-
(1996)
Proc. Natl. Acad. Sci. USA.
, vol.93
, pp. 7811-7815
-
-
Saitoh, S.1
Buiting, K.2
Rogan, P.K.3
Buxton, J.L.4
Driscoll, D.J.5
Arnemann, J.6
König, R.7
Malcolm, S.8
Horsthemke, B.9
Nicholls, R.D.10
-
39
-
-
0029816730
-
A familial deletion in the Prader-Willi syndrome region including the imprinting control region
-
Schuffenhauer S., Buchholz T., Stengel-Rutkowski S., Buiting K., Schmidt H., and Meitinger T. A familial deletion in the Prader-Willi syndrome region including the imprinting control region. Hum. Mutation. 8 (1996) 288-292
-
(1996)
Hum. Mutation.
, vol.8
, pp. 288-292
-
-
Schuffenhauer, S.1
Buchholz, T.2
Stengel-Rutkowski, S.3
Buiting, K.4
Schmidt, H.5
Meitinger, T.6
-
40
-
-
0031848147
-
Methylation analysis of the PWS/AS region does not support an enhancer-competition model
-
Schumacher A., Buiting K., Zeschnigk M., Doerfler W., and Horsthemke B. Methylation analysis of the PWS/AS region does not support an enhancer-competition model. Nat. Genet. 19 (1998) 324-325
-
(1998)
Nat. Genet.
, vol.19
, pp. 324-325
-
-
Schumacher, A.1
Buiting, K.2
Zeschnigk, M.3
Doerfler, W.4
Horsthemke, B.5
-
41
-
-
0033035048
-
In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit
-
Schweizer J., Zynger D., and Francke U. In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit. Hum. Mol. Genet. 8 (1999) 555-566
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 555-566
-
-
Schweizer, J.1
Zynger, D.2
Francke, U.3
-
42
-
-
0033671832
-
The imprinting box of the Prader-Willi/Angelman syndrome domain
-
Shemer R., Hershko A.Y., Perk J., Mostoslavsky R., Tsuberi B., Cedar H., Buiting K., and Razin A. The imprinting box of the Prader-Willi/Angelman syndrome domain. Nat. Genet. 26 (2000) 440-443
-
(2000)
Nat. Genet.
, vol.26
, pp. 440-443
-
-
Shemer, R.1
Hershko, A.Y.2
Perk, J.3
Mostoslavsky, R.4
Tsuberi, B.5
Cedar, H.6
Buiting, K.7
Razin, A.8
-
43
-
-
4444365791
-
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome
-
Sparago A., Cerrato F., Vernucci M., Ferrero G.B., Cirillo Silengo M., and Riccio A. Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Nat. Genet. 36 (2004) 958-960
-
(2004)
Nat. Genet.
, vol.36
, pp. 958-960
-
-
Sparago, A.1
Cerrato, F.2
Vernucci, M.3
Ferrero, G.B.4
Cirillo Silengo, M.5
Riccio, A.6
-
44
-
-
33847306554
-
Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour
-
Sparago A., Russo S., Cerrato F., Ferraiuolo S., Castorina P., Selicorni A., Schwienbacher C., Negrini M., Ferrero G.B., Silengo M.C., Anichini C., Larizza L., et al. Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour. Hum. Mol. Genet. 16 (2007) 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
-
45
-
-
0021237658
-
Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis
-
Surani M.A., Barton S.C., and Norris M.L. Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis. Nature 308 (1984) 548-550
-
(1984)
Nature
, vol.308
, pp. 548-550
-
-
Surani, M.A.1
Barton, S.C.2
Norris, M.L.3
-
46
-
-
0028133293
-
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
-
Sutcliffe J.S., Nakao M., Christian S., Orstavik K.H., Tommerup N., Ledbetter D.H., and Beaudet A.L. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat. Genet. 8 (1994) 52-58
-
(1994)
Nat. Genet.
, vol.8
, pp. 52-58
-
-
Sutcliffe, J.S.1
Nakao, M.2
Christian, S.3
Orstavik, K.H.4
Tommerup, N.5
Ledbetter, D.H.6
Beaudet, A.L.7
-
47
-
-
0038407464
-
What good is genomic imprinting: The function of parent-specific gene expression
-
Wilkins J.F., and Haig D. What good is genomic imprinting: The function of parent-specific gene expression. Nat. Rev. Genet. 45 (2003) 359-368
-
(2003)
Nat. Rev. Genet.
, vol.45
, pp. 359-368
-
-
Wilkins, J.F.1
Haig, D.2
-
48
-
-
33751086773
-
Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain
-
Wu M.Y., Tsai T.F., and Beaudet A.L. Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain. Genes Dev. 20 (2006) 2859-2870
-
(2006)
Genes Dev.
, vol.20
, pp. 2859-2870
-
-
Wu, M.Y.1
Tsai, T.F.2
Beaudet, A.L.3
-
49
-
-
0031747932
-
A mouse model for Prader-Willi syndrome imprinting-centre mutations
-
Yang T., Adamson T.E., Resnick J.L., Leff S., Wevrick R., Francke U., Jenkins N.A., Copeland N.G., and Brannan C.I. A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nat. Genet. 19 (1998) 25-31
-
(1998)
Nat. Genet.
, vol.19
, pp. 25-31
-
-
Yang, T.1
Adamson, T.E.2
Resnick, J.L.3
Leff, S.4
Wevrick, R.5
Francke, U.6
Jenkins, N.A.7
Copeland, N.G.8
Brannan, C.I.9
-
50
-
-
33744472165
-
Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15
-
Zogel C., Bohringer S., Gross S., Varon R., Buiting K., and Horsthemke B. Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15. Eur. J. Hum. Genet. 14 (2006) 752-758
-
(2006)
Eur. J. Hum. Genet.
, vol.14
, pp. 752-758
-
-
Zogel, C.1
Bohringer, S.2
Gross, S.3
Varon, R.4
Buiting, K.5
Horsthemke, B.6
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