-
1
-
-
0035003096
-
Disruption of the bipartite imprinting center in a family with Angelman syndrome
-
Buiting K, Barnicoat A, Lich C, Pembrey M, Malcolm S, Horsthemke B (2001) Disruption of the bipartite imprinting center in a family with Angelman syndrome. Am J Hum Genet 68:1290-1294
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1290-1294
-
-
Buiting, K.1
Barnicoat, A.2
Lich, C.3
Pembrey, M.4
Malcolm, S.5
Horsthemke, B.6
-
2
-
-
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, et al (1998) Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet 63:170-180
-
(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
-
3
-
-
0033819865
-
Imprinting centre deletions in two PWS families: Implications for diagnostic testing and genetic counseling
-
Buiting K, Färber C, Kroisel P, Wagner K, Brueton L, Robertson ME, Lich C, Horsthemke B (2000) Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling. Clin Genet 58:284-290
-
(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
-
4
-
-
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, Horsthemke B (1999) A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp. Hum Genet 105:665-666
-
(1999)
Hum Genet
, vol.105
, pp. 665-666
-
-
Buiting, K.1
Lich, C.2
Cottrell, S.3
Barnicoat, A.4
Horsthemke, B.5
-
5
-
-
0028939902
-
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting center on human chromosome 15
-
Buiting K, Saitoh S, Groß S, Dittrich B, Schwartz S, Nicholls R, Horsthemke B (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting center on human chromosome 15. Nat Genet 9:395-400
-
(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.6
Horsthemke, B.7
-
6
-
-
0030762915
-
Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome
-
Bürger J, Buiting K, Dittrich B, Groß S, Lich S, Sperling K, Horsthemke B, Reis A (1997) Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome. Am J Hum Genet 61:88-93
-
(1997)
Am J Hum Genet
, vol.61
, pp. 88-93
-
-
Bürger, J.1
Buiting, K.2
Dittrich, B.3
Groß, S.4
Lich, S.5
Sperling, K.6
Horsthemke, B.7
Reis, A.8
-
7
-
-
0034703865
-
The H19 methylation imprint is erased and re-established differentially on the paternal alleles during male germ cell development
-
Davis TL, Yang GJ, McCarrey JR, Bartolomei MS (2000) The H19 methylation imprint is erased and re-established differentially on the paternal alleles during male germ cell development. Hum Mol Genet 9:2885-2894
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2885-2894
-
-
Davis, T.L.1
Yang, G.J.2
McCarrey, J.R.3
Bartolomei, M.S.4
-
8
-
-
0027185478
-
An NciI RFLP at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-q13
-
Dittrich B, Groß S, Buiting K, Horsthemke B (1993) An NciI RFLP at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-q13. Hum Mol Genet 2:1509
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1509
-
-
Dittrich, B.1
Groß, S.2
Buiting, K.3
Horsthemke, B.4
-
9
-
-
0035090961
-
Maternal methylation imprints on human chromosome 15 are established during or after fertilization
-
El-Maarri O, Buiting K, Peery EG, Kroisel PM, Balaban B, Wagner K, Urman B, Heyd J, Lich C, Brannan CI, Walter J, Horsthemke B (2001) Maternal methylation imprints on human chromosome 15 are established during or after fertilization. Nat Genet 27:341-344
-
(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
-
10
-
-
17144438935
-
The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion
-
Färber C, Dittrich B, Buiting K, Horsthemke B (1999) The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion. Hum Mol Genet 8:337-343
-
(1999)
Hum Mol Genet
, vol.8
, pp. 337-343
-
-
Färber, C.1
Dittrich, B.2
Buiting, K.3
Horsthemke, B.4
-
11
-
-
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, Horsthemke B (1999) 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 7:638-644
-
(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
-
12
-
-
0034283818
-
Complex patterns of inheritance of an imprinted murine transgene suggest incomplete germ line erasure
-
Kearns M, Preis J, McDonald M, Morris C, Whitelaw E (2000) Complex patterns of inheritance of an imprinted murine transgene suggest incomplete germ line erasure. Nucleic Acids Res 28:3301-3309
-
(2000)
Nucleic Acids Res
, vol.28
, pp. 3301-3309
-
-
Kearns, M.1
Preis, J.2
McDonald, M.3
Morris, C.4
Whitelaw, E.5
-
14
-
-
0035777024
-
Genome organization: Function and imprinting in Prader-Willi and Angelman syndromes
-
Nicholls RD, Knepper JL (2001) Genome organization: function and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genomics Hum Genet 2:153-175
-
(2001)
Annu Rev Genomics Hum Genet
, vol.2
, pp. 153-175
-
-
Nicholls, R.D.1
Knepper, J.L.2
-
15
-
-
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 DJ, Cassidy SB, Horsthemke B, Nicholls RD (1999a) Molecular mechanism of Angelman syndrome in two large families involves an imprinting mutation. Am J Hum Genet 64:385-396
-
(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
-
16
-
-
0033073395
-
Imprinting-mutation mechanisms in Prader-Willi syndrome
-
Ohta T, Gray TA, Rogan PK, Buiting K, Gabriel JM, Saitoh S, Muralidhar, Bilienska B, Krajewska-Walasek M, Driscoll DJ, Horsthemke B, Butler MG, Nicholls RD (1999b) Imprinting-mutation mechanisms in Prader-Willi syndrome. Am J Hum Genet 64:397-413
-
(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
Muralidhar7
Bilienska, B.8
Krajewska-Walasek, M.9
Driscoll, D.J.10
Horsthemke, B.11
Butler, M.G.12
Nicholls, R.D.13
-
17
-
-
0035874481
-
The marks, mechanisms and memory of epigenetic states in mammals
-
Rakyan VK, Preis J, Morgan HD, Whitelaw E (2001) The marks, mechanisms and memory of epigenetic states in mammals. Biochem J 356:1-10
-
(2001)
Biochem J
, vol.356
, pp. 1-10
-
-
Rakyan, V.K.1
Preis, J.2
Morgan, H.D.3
Whitelaw, E.4
-
18
-
-
16044365355
-
Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations
-
Saitoh S, Buiting K, Rogan PK, Buxton JL, Driscoll DJ, Arnemann J, König R, Malcolm S, Horsthemke B, Nicholls RD (1996) Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations. Proc Natl Acad Sci USA 93:7811-7815
-
(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
-
19
-
-
0031848147
-
Methylation analysis of the PWS/AS region does not support an enhancer-competition model
-
Schumacher A, Buiting K, Zeschnigk M, Doerfler W, Horsthemke B (1998) Methylation analysis of the PWS/AS region does not support an enhancer-competition model. Nat Genet 19:324-325
-
(1998)
Nat Genet
, vol.19
, pp. 324-325
-
-
Schumacher, A.1
Buiting, K.2
Zeschnigk, M.3
Doerfler, W.4
Horsthemke, B.5
-
20
-
-
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, Francke U (1999) 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 8:555-566
-
(1999)
Hum Mol Genet
, vol.8
, pp. 555-566
-
-
Schweizer, J.1
Zynger, D.2
Francke, U.3
-
21
-
-
0035208597
-
Parent-specific complementary patterns of histone H3 lysine 9 and H3 lysine 4 methylation at the Prader-Willi syndrome imprinting center
-
Xin Z, Allis CD, Wagstaff J (2001) Parent-specific complementary patterns of histone H3 lysine 9 and H3 lysine 4 methylation at the Prader-Willi syndrome imprinting center. Am J Hum Genet 69:1389-1394
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1389-1394
-
-
Xin, Z.1
Allis, C.D.2
Wagstaff, J.3
-
22
-
-
0030916936
-
A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus
-
Zeschnigk M, Lich C, Buiting K, Doerfler W, Horsthemke B (1997) A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus. Eur J Hum Genet 5:94-98
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 94-98
-
-
Zeschnigk, M.1
Lich, C.2
Buiting, K.3
Doerfler, W.4
Horsthemke, B.5
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