-
1
-
-
0015871312
-
Paramutation
-
Brink RA (1973) Paramutation. Annu Rev Genet 7:129-152
-
(1973)
Annu Rev Genet
, vol.7
, pp. 129-152
-
-
Brink, R.A.1
-
2
-
-
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 RD, Horsthemke B (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre 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.D.6
Horsthemke, B.7
-
3
-
-
0030442292
-
Phenotypic differences in Angelman syndrome patients: Imprinting mutations show less frequently microcephaly and hypopigmentation than deletions
-
Bürger J, Kunze J, Sperling K, Reis A (1996) Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions. Am J Med Genet 66:221-226
-
(1996)
Am J Med Genet
, vol.66
, pp. 221-226
-
-
Bürger, J.1
Kunze, J.2
Sperling, K.3
Reis, A.4
-
4
-
-
0030595362
-
Interchromosomal transfer of epigenetic states in ascobolus: Transfer of DNA methylation is mechanistically related to homologous recombination
-
Colot V, Rossignol JL (1996) Interchromosomal transfer of epigenetic states in ascobolus: transfer of DNA methylation is mechanistically related to homologous recombination. Cell 86:855-864
-
(1996)
Cell
, vol.86
, pp. 855-864
-
-
Colot, V.1
Rossignol, J.L.2
-
5
-
-
0027741188
-
Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region
-
Dittrich B, Buiting K, Groß S, Horsthemke B (1993) Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region. Hum Mol Genet 2:1995-1999
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1995-1999
-
-
Dittrich, B.1
Buiting, K.2
Groß, S.3
Horsthemke, B.4
-
6
-
-
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 RD, et al (1996) Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet 14:163-170
-
(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
-
7
-
-
0026595355
-
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin-specific DNA methylation
-
Dittrich B, Robinson WP, Knoblauch H, Buiting K, Schmidt K, Gillessen-Kaesbach G, Horsthemke B (1992) Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin-specific DNA methylation. Hum Genet 90:313-315
-
(1992)
Hum Genet
, vol.90
, pp. 313-315
-
-
Dittrich, B.1
Robinson, W.P.2
Knoblauch, H.3
Buiting, K.4
Schmidt, K.5
Gillessen-Kaesbach, G.6
Horsthemke, B.7
-
8
-
-
0029794872
-
Imprinting moves to the centre
-
Ferguson-Smith AC (1996) Imprinting moves to the centre. Nat Genet 14:119-121
-
(1996)
Nat Genet
, vol.14
, pp. 119-121
-
-
Ferguson-Smith, A.C.1
-
9
-
-
85030299123
-
-
Genome Database home page (1996) http://gdbwww.gdb.org/
-
(1996)
-
-
-
10
-
-
0027169927
-
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients
-
Glenn CC, Nicholls RD, Robinson WP, Saitoh S, Niikawa N, Schinzel A, Horsthemke B, et al (1993) Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet 2:1377-1382
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1377-1382
-
-
Glenn, C.C.1
Nicholls, R.D.2
Robinson, W.P.3
Saitoh, S.4
Niikawa, N.5
Schinzel, A.6
Horsthemke, B.7
-
11
-
-
0028231090
-
The 1993-94 Généthon human genetic linkage map
-
Gyapay G, Morisette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, et al (1994) The 1993-94 Généthon human genetic linkage map. Nat Genet 7:246-339
-
(1994)
Nat Genet
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morisette, J.2
Vignal, A.3
Dib, C.4
Fizames, C.5
Millasseau, P.6
Marc, S.7
-
12
-
-
0023279926
-
The inheritance of epigenetic defects
-
Holliday R (1987) The inheritance of epigenetic defects. Science 238:163-170
-
(1987)
Science
, vol.238
, pp. 163-170
-
-
Holliday, R.1
-
13
-
-
0023617404
-
Clinical heterogeneity associated with deletions in the long arm of chromosome 15: Report of 3 new cases and their possible genetic significance
-
Kaplan LC, Wharton R, Elias E, Mandell F, Donlon T, Latt SA (1987) Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance. Am J Med Genet 28: 45-53
-
(1987)
Am J Med Genet
, vol.28
, pp. 45-53
-
-
Kaplan, L.C.1
Wharton, R.2
Elias, E.3
Mandell, F.4
Donlon, T.5
Latt, S.A.6
-
14
-
-
0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
Kishino T, Lalande M, Wagstaff J (1997) UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 15:70-73
-
(1997)
Nat Genet
, vol.15
, pp. 70-73
-
-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
-
15
-
-
0024619007
-
Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
-
Knoll JH, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA (1989) Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 32:285-290
-
(1989)
Am J Med Genet
, vol.32
, pp. 285-290
-
-
Knoll, J.H.1
Nicholls, R.D.2
Magenis, R.E.3
Graham Jr., J.M.4
Lalande, M.5
Latt, S.A.6
-
16
-
-
16944366031
-
Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: Implications for prenatal diagnosis
-
Kubota T, Aradhya S, Macha M, Smith ACM, Surh LC, Satish J, Verp MS, et al (1996) Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implications for prenatal diagnosis. J Med Genet 33:1011-1014
-
(1996)
J Med Genet
, vol.33
, pp. 1011-1014
-
-
Kubota, T.1
Aradhya, S.2
Macha, M.3
Smith, A.C.M.4
Surh, L.C.5
Satish, J.6
Verp, M.S.7
-
17
-
-
0030043993
-
Homologous association of oppositely imprinted chromosomal domains
-
LaSalle J, Lalande M (1996) Homologous association of oppositely imprinted chromosomal domains. Science 272:725-728
-
(1996)
Science
, vol.272
, pp. 725-728
-
-
LaSalle, J.1
Lalande, M.2
-
18
-
-
0025947750
-
Dinucleotide repeat polymorphism of D15S10 in the Prader-Willi chromosome region (PWCR)
-
Lindeman R, Kouts S, Woodage T, Smith A, Trent RJ (1991) Dinucleotide repeat polymorphism of D15S10 in the Prader-Willi chromosome region (PWCR). Nucleic Acids Res 19: 5449
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 5449
-
-
Lindeman, R.1
Kouts, S.2
Woodage, T.3
Smith, A.4
Trent, R.J.5
-
19
-
-
0023522069
-
Is Angelman syndrome an alternate result of del(15)(q11q13)?
-
Magenis RE, Brown MG, Lacy DA, Budden S, LaFranchi S (1987) Is Angelman syndrome an alternate result of del(15)(q11q13)? Am J Med Genet 28:829-838
-
(1987)
Am J Med Genet
, vol.28
, pp. 829-838
-
-
Magenis, R.E.1
Brown, M.G.2
Lacy, D.A.3
Budden, S.4
LaFranchi, S.5
-
20
-
-
0031031570
-
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
-
Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, et al (1997) De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 15:74-77
-
(1997)
Nat Genet
, vol.15
, pp. 74-77
-
-
Matsuura, T.1
Sutcliffe, J.S.2
Fang, P.3
Galjaard, R.J.4
Jiang, Y.H.5
Benton, C.S.6
Rommens, J.M.7
-
21
-
-
0027473988
-
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): Molecular diagnosis and mechanism of uniparental disomy
-
Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH (1993) Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet 2:143-151
-
(1993)
Hum Mol Genet
, vol.2
, pp. 143-151
-
-
Mutirangura, A.1
Greenberg, F.2
Butler, M.G.3
Malcolm, S.4
Nicholls, R.D.5
Chakravarti, A.6
Ledbetter, D.H.7
-
22
-
-
0026865322
-
Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/ PWS) of chromosome 15
-
Mutirangura A, Kuwano A, Ledbetter SA, Chinault AC, Ledbetter DH (1992a) Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/ PWS) of chromosome 15. Hum Mol Genet 1:139
-
(1992)
Hum Mol Genet
, vol.1
, pp. 139
-
-
Mutirangura, A.1
Kuwano, A.2
Ledbetter, S.A.3
Chinault, A.C.4
Ledbetter, D.H.5
-
23
-
-
0026849410
-
Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/ Prader-Willi region (AS/PWS) of chromosome 15
-
Mutirangura A, Ledbetter SA, Kuwano A, Chinault AC, Ledbetter DH (1992b) Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/ Prader-Willi region (AS/PWS) of chromosome 15. Hum Mol Genet 1:67
-
(1992)
Hum Mol Genet
, vol.1
, pp. 67
-
-
Mutirangura, A.1
Ledbetter, S.A.2
Kuwano, A.3
Chinault, A.C.4
Ledbetter, D.H.5
-
24
-
-
0027290868
-
Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes
-
Nicholls RD (1993) Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes. Curr Opin Genet Dev 3:445-456
-
(1993)
Curr Opin Genet Dev
, vol.3
, pp. 445-456
-
-
Nicholls, R.D.1
-
25
-
-
0028862472
-
Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain
-
Reik W, Brown KW, Schneid H, Le Bouc Y, Bickmore W, Maher WR (1995) Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain. Hum Mol Genet 4:2379-2385
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2379-2385
-
-
Reik, W.1
Brown, K.W.2
Schneid, H.3
Le Bouc, Y.4
Bickmore, W.5
Maher, W.R.6
-
26
-
-
0028229959
-
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
-
Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, et al (1994a) Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 54:741-747
-
(1994)
Am J Hum Genet
, vol.54
, pp. 741-747
-
-
Reis, A.1
Dittrich, B.2
Greger, V.3
Buiting, K.4
Lalande, M.5
Gillessen-Kaesbach, G.6
Anvret, M.7
-
28
-
-
0031055875
-
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation
-
Saitoh S, Buiting K, Cassidy SB, Conroy JM, Driscoll DJ, James M, Gillessen-Kaesbach G, et al (1997) Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Am J Med Genet 68:195-206
-
(1997)
Am J Med Genet
, vol.68
, pp. 195-206
-
-
Saitoh, S.1
Buiting, K.2
Cassidy, S.B.3
Conroy, J.M.4
Driscoll, D.J.5
James, M.6
Gillessen-Kaesbach, G.7
-
29
-
-
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, et al (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
-
30
-
-
0028133293
-
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
-
Sutcliffe JS, Nakao M, Christian S, Örstavik KH, Tommerup N, Ledbetter DH, Beaudet AL (1994) Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet 8:52-58
-
(1994)
Nat Genet
, vol.8
, pp. 52-58
-
-
Sutcliffe, J.S.1
Nakao, M.2
Christian, S.3
Örstavik, K.H.4
Tommerup, N.5
Ledbetter, D.H.6
Beaudet, A.L.7
-
31
-
-
0029621799
-
Allele-specific expression and total expression levels of imprinted genes during early mouse development: Implications for imprinting mechanisms
-
Szabo PE, Mann JR (1995a) Allele-specific expression and total expression levels of imprinted genes during early mouse development: implications for imprinting mechanisms. Genes Dev 9:3097-3108
-
(1995)
Genes Dev
, vol.9
, pp. 3097-3108
-
-
Szabo, P.E.1
Mann, J.R.2
-
32
-
-
0029142492
-
Biallelic expression of imprinted genes in the mouse germ line: Implications for erasure, establishment, and mechanisms of genomic imprinting
-
_ (1995b) Biallelic expression of imprinted genes in the mouse germ line: implications for erasure, establishment, and mechanisms of genomic imprinting. Genes Dev 9:1857-1868
-
(1995)
Genes Dev
, vol.9
, pp. 1857-1868
-
-
-
34
-
-
0028969404
-
Angelman syndrome: Consensus for diagnostic criteria
-
Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JHM, Magenis RE, et al (1995) Angelman syndrome: consensus for diagnostic criteria. Am J Med Genet 56:237-238
-
(1995)
Am J Med Genet
, vol.56
, pp. 237-238
-
-
Williams, C.A.1
Angelman, H.2
Clayton-Smith, J.3
Driscoll, D.J.4
Hendrickson, J.E.5
Knoll, J.H.M.6
Magenis, R.E.7
|