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1
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0001745242
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Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance
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C.R. Scriver, A.L. Beaudet, W.S. Sly, Valle D. 7 New York: McGraw-Hill
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Ledbetter DH, Ballabio A. Molecular cytogenetics of contiguous gene syndromes: mechanisms and consequences of gene dosage imbalance. Scriver CR, Beaudet AL, Sly WS, Valle D. 7 The Metabolic and Molecular Bases of Inherited Disease. 1995;811-839 McGraw-Hill, New York.
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The Metabolic and Molecular Bases of Inherited Disease
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Ledbetter, D.H.1
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0028209550
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New insights reveal complex mechanisms involved in genomic imprinting
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Nicholls RD. New insights reveal complex mechanisms involved in genomic imprinting. Am J Hum Genet. 54:1994;733-740.
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Nicholls, R.D.1
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Angelman syndrome
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Williams CA, Zori RT, Hendrickson J, Stalker H, Marum T, Whidden E, Driscoll DJ. Angelman syndrome. Curr Prob Pediatr. 25:1995;216-231.
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Williams, C.A.1
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Whidden, E.6
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4
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0029587022
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Gametic imprinting in mammals
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Barlow DP. Gametic imprinting in mammals. Science. 270:1995;1610-1613.
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Science
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Barlow, D.P.1
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5
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Multiple roles for DNA methylation in gametic imprinting
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Neumann B, Barlow DP. Multiple roles for DNA methylation in gametic imprinting. Curr Opin Genet Dev. 6:1996;159-163.
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Curr Opin Genet Dev
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Neumann, B.1
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6
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0030229886
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Random and imprinted monoallelic expression
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Watanabe D, Barlow DP. Random and imprinted monoallelic expression. Genes Cells. 1:1996;795-802.
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(1996)
Genes Cells
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Watanabe, D.1
Barlow, D.P.2
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7
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0030458551
-
Parental imprinting and human disease
-
of special interest. A valuable and up-to-date review from a leading laboratory with an excellent overview of data on methylation and replication timing.
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Lalande M. Parental imprinting and human disease. of special interest Annu Rev Genet. 30:1996;173-195 A valuable and up-to-date review from a leading laboratory with an excellent overview of data on methylation and replication timing.
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(1996)
Annu Rev Genet
, vol.30
, pp. 173-195
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Lalande, M.1
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8
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0030833487
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Imprinting mutations on human chromosome 15
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of outstanding interest. An excellent review from the most active laboratory studying imprinting mutations with a thorough summary of the data and a presentation of the model proposed by this group.
-
Horsthemke B, Dittrich B, Buiting K. Imprinting mutations on human chromosome 15. of outstanding interest Hum Mutat. 10:1997;329-337 An excellent review from the most active laboratory studying imprinting mutations with a thorough summary of the data and a presentation of the model proposed by this group.
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(1997)
Hum Mutat
, vol.10
, pp. 329-337
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Horsthemke, B.1
Dittrich, B.2
Buiting, K.3
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9
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0031114837
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Genomic imprinting: Potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes
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Glenn CC, Driscoll DJ, Yang TP, Nicholls RD. Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes. Mol Hum Reprod. 3:1997;321-332.
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(1997)
Mol Hum Reprod
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Glenn, C.C.1
Driscoll, D.J.2
Yang, T.P.3
Nicholls, R.D.4
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10
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0031468447
-
Genomic imprinting in mammals
-
of outstanding interest. An outstanding review of data on genomic imprinting with an emphasis on basic concepts, particularly from the perspective of the H19/lgf2 region studied intensively by these investigators.
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Bartolomei MS, Tilghman SM. Genomic imprinting in mammals. of outstanding interest Annu Rev Genet. 31:1997;493-525 An outstanding review of data on genomic imprinting with an emphasis on basic concepts, particularly from the perspective of the H19/lgf2 region studied intensively by these investigators.
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(1997)
Annu Rev Genet
, vol.31
, pp. 493-525
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Bartolomei, M.S.1
Tilghman, S.M.2
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11
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0027026716
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Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region
-
of outstanding interest
-
of outstanding interest Özçelik T, Leff S, Robinson W, Donlon T, Lalande M, Sanjines E, Schinzel A, Francke U. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nat Genet. 2:1992;265-269.
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(1992)
Nat Genet
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Özçelik, T.1
Leff, S.2
Robinson, W.3
Donlon, T.4
Lalande, M.5
Sanjines, E.6
Schinzel, A.7
Francke, U.8
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12
-
-
16944363776
-
The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region
-
of outstanding interest. One of four reports [12-15] showing that the human/mouse necdin gene maps in the PWS/AS region and is paternally expressed. These reports identify the necdin locus as a new candidate gene that might contribute to some or all of the phenotypic manifestations of PWS and might contribute to the perinatal lethality observed with paternal deficiency for this region in the mouse.
-
Jay P, Rougeulle C, Massacrier A, Moncla A, Mattei MG, Malzac P, Roeckel N, Taviaux S, Lefranc JL, Cau P, et al. The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. of outstanding interest Nat Genet. 17:1997;357-361 One of four reports [12-15] showing that the human/mouse necdin gene maps in the PWS/AS region and is paternally expressed. These reports identify the necdin locus as a new candidate gene that might contribute to some or all of the phenotypic manifestations of PWS and might contribute to the perinatal lethality observed with paternal deficiency for this region in the mouse.
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(1997)
Nat Genet
, vol.17
, pp. 357-361
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-
Jay, P.1
Rougeulle, C.2
Massacrier, A.3
Moncla, A.4
Mattei, M.G.5
Malzac, P.6
Roeckel, N.7
Taviaux, S.8
Lefranc, J.L.9
Cau, P.10
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13
-
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0030773594
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The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse
-
of outstanding interest. See annotation [12].
-
MacDonald HR, Wevrick R. The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. of outstanding interest Hum Mol Genet. 6:1997;1873-1878 See annotation [12].
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(1997)
Hum Mol Genet
, vol.6
, pp. 1873-1878
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MacDonald, H.R.1
Wevrick, R.2
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14
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0031590567
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Neuronally-expressed necdin gene: An imprinted candidate gene in Prader-Willi syndrome
-
of outstanding interest. See annotation [12].
-
Sutcliffe JS, Han M, Christian SL, Ledbetter DH. Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome. of outstanding interest Lancet. 359:1997;1520 See annotation [12].
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(1997)
Lancet
, vol.359
, pp. 1520
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-
Sutcliffe, J.S.1
Han, M.2
Christian, S.L.3
Ledbetter, D.H.4
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15
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0030776554
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The mouse Necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region
-
of outstanding interest. See annotation [12].
-
Watrin F, Roeckel N, Lacroix L, Mignon C, Mattei MG, Disteche C, Muscatelli F. The mouse Necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region. of outstanding interest Eur J Hum Genet. 5:1997;324-332 See annotation [12].
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(1997)
Eur J Hum Genet
, vol.5
, pp. 324-332
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-
Watrin, F.1
Roeckel, N.2
Lacroix, L.3
Mignon, C.4
Mattei, M.G.5
Disteche, C.6
Muscatelli, F.7
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16
-
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0030032692
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DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region
-
Mowery-Rushton PA, Driscoll DJ, Nicholls RD, Locker J, Surti U. DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region. Am J Med Genet. 61:1996;140-146.
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(1996)
Am J Med Genet
, vol.61
, pp. 140-146
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Mowery-Rushton, P.A.1
Driscoll, D.J.2
Nicholls, R.D.3
Locker, J.4
Surti, U.5
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17
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0028124726
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Identification of a novel paternally expressed gene in the Prader-Willi syndrome region
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Wevrick R, Kerns JA, Francke U. Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum Mol Genet. 3:1994;1877-1882.
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(1994)
Hum Mol Genet
, vol.3
, pp. 1877-1882
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Wevrick, R.1
Kerns, J.A.2
Francke, U.3
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18
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0027017879
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A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression
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Cattanach BM, Barr JA, Evans EP, Burtenshaw M, Beechey CV, Leff SE, Brannan CI, Copeland NG, Jenkins NA, Jones J. A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression. Nat Genet. 2:1992;270-274.
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(1992)
Nat Genet
, vol.2
, pp. 270-274
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Cattanach, B.M.1
Barr, J.A.2
Evans, E.P.3
Burtenshaw, M.4
Beechey, C.V.5
Leff, S.E.6
Brannan, C.I.7
Copeland, N.G.8
Jenkins, N.A.9
Jones, J.10
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19
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0027502537
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Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse
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Nicholls RD, Gottlieb W, Russell LB, Davda M, Horsthemke B, Rinchik EM. Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse. Proc Natl Acad Sci USA. 90:1993;2050-2054.
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(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 2050-2054
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-
Nicholls, R.D.1
Gottlieb, W.2
Russell, L.B.3
Davda, M.4
Horsthemke, B.5
Rinchik, E.M.6
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20
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0028181769
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GABAA receptor β3 subunit gene is possibly paternally imprinted in humans
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Kubota T, Niikawa N, Jinno Y, Ishimaru T. GABAA receptor β3 subunit gene is possibly paternally imprinted in humans. Am J Med Genet. 49:1994;452-453.
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(1994)
Am J Med Genet
, vol.49
, pp. 452-453
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Kubota, T.1
Niikawa, N.2
Jinno, Y.3
Ishimaru, T.4
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21
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0030687684
-
A receptor subunit genes, using microcell-mediated chromosome transfer
-
of special interest. A credible and recent report in a series of conflicting reports regarding the imprinting status of GABRB3/Gabrb3 the data suggest paternal expression for GABRB3 but more data are needed.
-
A receptor subunit genes, using microcell-mediated chromosome transfer. of special interest Hum Mol Genet. 6:1997;2127-2133 A credible and recent report in a series of conflicting reports regarding the imprinting status of GABRB3/Gabrb3 the data suggest paternal expression for GABRB3 but more data are needed.
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(1997)
Hum Mol Genet
, vol.6
, pp. 2127-2133
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-
Meguro, M.1
Mitsuya, K.2
Sui, H.3
Shigenami, K.4
Kugoh, H.5
Nakao, M.6
Oshimura, M.7
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22
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0028044579
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Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E)
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Nakao M, Sutcliffe JS, Durtschi B, Mutirangura A, Ledbetter DH, Beaudet AL. Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E). Hum Mol Genet. 3:1994;309-315.
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(1994)
Hum Mol Genet
, vol.3
, pp. 309-315
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-
Nakao, M.1
Sutcliffe, J.S.2
Durtschi, B.3
Mutirangura, A.4
Ledbetter, D.H.5
Beaudet, A.L.6
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23
-
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0031937488
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Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb
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of special interest. An extraordinarily detailed physical and genetic map of the PWS/AS region.
-
Christian SL, Bhatt NK, Martin SA, Sutcliffe JS, Kubota T, Huang B, Mutirangura A, Chinault AC, Beaudet AL, Ledbetter DH. Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb. of special interest Genome Res. 8:1998;146-157 An extraordinarily detailed physical and genetic map of the PWS/AS region.
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(1998)
Genome Res
, vol.8
, pp. 146-157
-
-
Christian, S.L.1
Bhatt, N.K.2
Martin, S.A.3
Sutcliffe, J.S.4
Kubota, T.5
Huang, B.6
Mutirangura, A.7
Chinault, A.C.8
Beaudet, A.L.9
Ledbetter, D.H.10
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24
-
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0027169927
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Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients
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Glenn CC, Nicholls RD, Robinson WP, Saitoh S, Niikawa N, Schinzel A, Horsthemke B, Driscoll DJ. Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet. 2:1993;1377-1382.
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(1993)
Hum Mol Genet
, vol.2
, pp. 1377-1382
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-
Glenn, C.C.1
Nicholls, R.D.2
Robinson, W.P.3
Saitoh, S.4
Niikawa, N.5
Schinzel, A.6
Horsthemke, B.7
Driscoll, D.J.8
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25
-
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0028229959
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Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
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Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Ksbach G, Anvret M, Horsthemke B. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet. 54:1994;741-747.
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(1994)
Am J Hum Genet
, vol.54
, pp. 741-747
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Reis, A.1
Dittrich, B.2
Greger, V.3
Buiting, K.4
Lalande, M.5
Gillessen-Ksbach, G.6
Anvret, M.7
Horsthemke, B.8
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26
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0028133293
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Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
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Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet. 8:1994;52-58.
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(1994)
Nat Genet
, vol.8
, pp. 52-58
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-
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
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27
-
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0032539689
-
Clonal heterogeneity at allelic methylation sites diagnostic for Prader-Willi and Angelman syndromes
-
of special interest. A very recent report of the stability of methylation in this region based on clonal analysis of lymphoblasts. The results indicate that partial methylation at sites from tissues reflects clonal complexity and a lack of strict maintenance of methylation within clones.
-
LaSalle JM, Ritchie RJ, Glatt H, Lalande M. Clonal heterogeneity at allelic methylation sites diagnostic for Prader-Willi and Angelman syndromes. of special interest Proc Natl Acad Sci USA. 95:1998;1675-1680 A very recent report of the stability of methylation in this region based on clonal analysis of lymphoblasts. The results indicate that partial methylation at sites from tissues reflects clonal complexity and a lack of strict maintenance of methylation within clones.
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(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 1675-1680
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-
LaSalle, J.M.1
Ritchie, R.J.2
Glatt, H.3
Lalande, M.4
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28
-
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0031051145
-
Imprinted segments in the human genome: Different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method
-
of outstanding interest. A tour de force reporting genomic sequencing for this region for analysis of methylation. This report provides detailed information about the methylation status of individual CpG dinucleotides.
-
Zeschnigk M, Schmitz B, Dittrich B, Buiting K, Horsthemke B, Doerfler W. Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method. of outstanding interest Hum Mol Genet. 6:1997;387-395 A tour de force reporting genomic sequencing for this region for analysis of methylation. This report provides detailed information about the methylation status of individual CpG dinucleotides.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 387-395
-
-
Zeschnigk, M.1
Schmitz, B.2
Dittrich, B.3
Buiting, K.4
Horsthemke, B.5
Doerfler, W.6
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29
-
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0030886796
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Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern
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of outstanding interest. A thorough analysis of methylation for Snrpn in the mouse including evidence that methylation in key regions is erased in primordial germ cells, reestablished during gametogenesis, and maintained during embryogenesis.
-
Shemer R, Birger Y, Riggs AD, Razin A. Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern. of outstanding interest Proc Natl Acad Sci USA. 94:1997;10267-10272 A thorough analysis of methylation for Snrpn in the mouse including evidence that methylation in key regions is erased in primordial germ cells, reestablished during gametogenesis, and maintained during embryogenesis.
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(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 10267-10272
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Shemer, R.1
Birger, Y.2
Riggs, A.D.3
Razin, A.4
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30
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0028939902
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Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
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Buiting K, Saitoh S, Gross S, Bittrich B, Schwartz S, Nicholls RD, 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.
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(1995)
Nat Genet
, vol.9
, pp. 395-400
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-
Buiting, K.1
Saitoh, S.2
Gross, S.3
Bittrich, B.4
Schwartz, S.5
Nicholls, R.D.6
Horsthemke, B.7
-
31
-
-
0031031570
-
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
-
of outstanding interest. One of two simultaneous reports [31,32] of loss of function mutations in E6-AP ubiquitin protein ligase (UBE3A) essentially identifying this locus as the Angelman gene.
-
Matsuura T, Sutcliffe JS, Fang P, Galjaard R-J, Jiang Y-H, Benton CS, Rommens JM, Beaudet AL. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. of outstanding interest Nat Genet. 15:1997;74-77 One of two simultaneous reports [31,32] of loss of function mutations in E6-AP ubiquitin protein ligase (UBE3A) essentially identifying this locus as the Angelman gene.
-
(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
Beaudet, A.L.8
-
32
-
-
0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
of outstanding interest. See annotation [31].
-
Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. of outstanding interest Nat Genet. 15:1997;70-73 See annotation [31].
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(1997)
Nat Genet
, vol.15
, pp. 70-73
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-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
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33
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0029867499
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Diagnostic testing for Prader-Willi and Angelman syndromes
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Report of the ASHG/ACMG test and technology transfer committee
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Report of the ASHG/ACMG test and technology transfer committee Diagnostic testing for Prader-Willi and Angelman syndromes. Am J Hum Genet. 58:1996;1085-1088.
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(1996)
Am J Hum Genet
, vol.58
, pp. 1085-1088
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-
-
34
-
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0030916936
-
A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus
-
of special interest. One of three reports [34-36] describing the use of the bisulfite method followed by PCR to analyze methylation for diagnostic purposes in evaluation of PWS/AS patients.
-
Zeschnigk M, Lich C, Buiting K, Doerfler W, Horsthemke B. A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus. of special interest Eur J Hum Genet. 5:1997;94-98 One of three reports [34-36] describing the use of the bisulfite method followed by PCR to analyze methylation for diagnostic purposes in evaluation of PWS/AS patients.
-
(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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35
-
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0031133081
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Methylation- specific PCR simplifies imprinting analysis
-
of special interest. See annotation [34].
-
Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH. Methylation- specific PCR simplifies imprinting analysis. of special interest Nat Genet. 16:1997;16-17 See annotation [34].
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(1997)
Nat Genet
, vol.16
, pp. 16-17
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-
Kubota, T.1
Das, S.2
Christian, S.L.3
Baylin, S.B.4
Herman, J.G.5
Ledbetter, D.H.6
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36
-
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0030665282
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Prader-Willi and Angelman syndromes: Diagnosis with a bisulfite-treated methylation-specific PCR method
-
of special interest. See annotation [34].
-
Kosaki K, McGinniss MJ, Veraksa AN, McGinnis WJ, Jones KL. Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method. of special interest Am J Med Genet. 73:1997;308-313 See annotation [34].
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(1997)
Am J Med Genet
, vol.73
, pp. 308-313
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-
Kosaki, K.1
McGinniss, M.J.2
Veraksa, A.N.3
McGinnis, W.J.4
Jones, K.L.5
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37
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0027787530
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A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene
-
Mutirangura A, Jayakumar A, Sutcliffe JS, Nakao M, McKinney MJ, Buiting K, Horsthemke B, Beaudet AL, Chinault AC, Ledbetter DH. A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics. 18:1993;546-552.
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(1993)
Genomics
, vol.18
, pp. 546-552
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Mutirangura, A.1
Jayakumar, A.2
Sutcliffe, J.S.3
Nakao, M.4
McKinney, M.J.5
Buiting, K.6
Horsthemke, B.7
Beaudet, A.L.8
Chinault, A.C.9
Ledbetter, D.H.10
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38
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0029962292
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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
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of special interest. A detailed analysis of the duplication/repeat on chromosome 17 predisposing to both duplications and deletions leading to Charcot-Marie-Tooth disease type 1a or hereditary neuropathy with liability to pressure palsies, respectively, through unequal crossing over. The mechanism is quite likely to be similar for deletions and duplications in the PWS/AS region.
-
Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. of special interest Nat Genet. 12:1996;288-297 A detailed analysis of the duplication/repeat on chromosome 17 predisposing to both duplications and deletions leading to Charcot-Marie-Tooth disease type 1a or hereditary neuropathy with liability to pressure palsies, respectively, through unequal crossing over. The mechanism is quite likely to be similar for deletions and duplications in the PWS/AS region.
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(1996)
Nat Genet
, vol.12
, pp. 288-297
-
-
Reiter, L.T.1
Murakami, T.2
Koeuth, T.3
Pentao, L.4
Muzny, D.M.5
Gibbs, R.A.6
Lupski, J.R.7
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39
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0030881588
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Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
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of outstanding interest. A report of the discovery of a relatively large duplicated region in the genome predisposing to deletions causing Smith-Magenis syndrome. Similar findings for the PWS/AS region are discussed in the text of this review with reference to published abstracts.
-
Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. of outstanding interest Nat Genet. 17:1997;154-163 A report of the discovery of a relatively large duplicated region in the genome predisposing to deletions causing Smith-Magenis syndrome. Similar findings for the PWS/AS region are discussed in the text of this review with reference to published abstracts.
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(1997)
Nat Genet
, vol.17
, pp. 154-163
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-
Chen, K.S.1
Manian, P.2
Koeuth, T.3
Potocki, L.4
Zhao, Q.5
Chinault, A.C.6
Lee, C.C.7
Lupski, J.R.8
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40
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0031444629
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Inherited interstitial duplications of proximal 15q: Genotype-phenotype correlations
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Browne CE, Dennis NR, Maher E, Long FL, Nicholson JC, Sillibourne J, Barber JC. Inherited interstitial duplications of proximal 15q: Genotype-phenotype correlations. Am J Hum Genet. 61:1997;1342-1352.
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(1997)
Am J Hum Genet
, vol.61
, pp. 1342-1352
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Browne, C.E.1
Dennis, N.R.2
Maher, E.3
Long, F.L.4
Nicholson, J.C.5
Sillibourne, J.6
Barber, J.C.7
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41
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16944364326
-
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication
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of special interest. A fascinating report that maternal duplications in the PWS/AS region may be associated with autism. These findings suggest the possibility that over-expression of a maternally expressed gene in the PWS/AS region could represent a specific molecular basis for autism.
-
Cook EHJ, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. of special interest Am J Hum Genet. 60:1997;928-934 A fascinating report that maternal duplications in the PWS/AS region may be associated with autism. These findings suggest the possibility that over-expression of a maternally expressed gene in the PWS/AS region could represent a specific molecular basis for autism.
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(1997)
Am J Hum Genet
, vol.60
, pp. 928-934
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-
Cook, E.H.J.1
Lindgren, V.2
Leventhal, B.L.3
Courchesne, R.4
Lincoln, A.5
Shulman, C.6
Lord, C.7
Courchesne, E.8
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42
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0031149986
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Imprint switch mechanism indicated by mutations in Prader- Willi and Angelman syndromes
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Kelsey G, Reik W. Imprint switch mechanism indicated by mutations in Prader- Willi and Angelman syndromes. Bioessays. 19:1997;361-365.
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(1997)
Bioessays
, vol.19
, pp. 361-365
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Kelsey, G.1
Reik, W.2
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43
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0031055875
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Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation
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Saitoh S, Buiting K, Cassidy SB, Conroy JM, Driscoll DJ, Gabriel JM, Gillessen-Kaesbach G, Glenn CC, Greenswag LR, Horsthemke B, et al. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Am J Med Genet. 68:1997;195-206.
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Am J Med Genet
, vol.68
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Saitoh, S.1
Buiting, K.2
Cassidy, S.B.3
Conroy, J.M.4
Driscoll, D.J.5
Gabriel, J.M.6
Gillessen-Kaesbach, G.7
Glenn, C.C.8
Greenswag, L.R.9
Horsthemke, B.10
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44
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16044365355
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Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations
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Saitoh S, Buiting K, Rogan PK, Buxton JL, Driscoll DJ, Arnemann J, Konig R, Malcolm S, Horsthemke B, Nicholls RD. 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.
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(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 7811-7815
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Saitoh, S.1
Buiting, K.2
Rogan, P.K.3
Buxton, J.L.4
Driscoll, D.J.5
Arnemann, J.6
Konig, R.7
Malcolm, S.8
Horsthemke, B.9
Nicholls, R.D.10
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45
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10144234124
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Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
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of special interest. This report describes alternative upstream exons for SNRPN, describes the imprintor model for switching, and describes an imprinting mutation allowing switching from maternal to paternal epigenotype but not the reverse.
-
Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, Nicholls RD, Poustka A, Winterpacht A, Zabel B, Horsthemke B. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. of special interest Nat Genet. 14:1996;163-170 This report describes alternative upstream exons for SNRPN, describes the imprintor model for switching, and describes an imprinting mutation allowing switching from maternal to paternal epigenotype but not the reverse.
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(1996)
Nat Genet
, vol.14
, pp. 163-170
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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
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46
-
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0031882247
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Competitive edge at the imprinted Prader-Willi/Angelman region?
-
of outstanding interest. An outstanding commentary that suggests a further interpretation of much of the published data in this field in the context of the promoter competition model which has been thoroughly investigated for the H19/lgf2 region by this laboratory.
-
Tilghman SM, Caspary T, Ingram RS. Competitive edge at the imprinted Prader-Willi/Angelman region? of outstanding interest Nat Genet. 18:1998;206-208 An outstanding commentary that suggests a further interpretation of much of the published data in this field in the context of the promoter competition model which has been thoroughly investigated for the H19/lgf2 region by this laboratory.
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(1998)
Nat Genet
, vol.18
, pp. 206-208
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Tilghman, S.M.1
Caspary, T.2
Ingram, R.S.3
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47
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0030043993
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Homologous association of oppositely imprinted chromosomal domains
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of outstanding interest. A remarkable report suggesting that the homologous regions of chromosome 15q11-q13 associate during the S phase of the cell cycle in human lymphoblasts. This observation may be of fundamental importance regarding the various mechanisms of imprinting and its biological significance.
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Lasalle JM, Lalande M. Homologous association of oppositely imprinted chromosomal domains. of outstanding interest Science. 272:1996;725-728 A remarkable report suggesting that the homologous regions of chromosome 15q11-q13 associate during the S phase of the cell cycle in human lymphoblasts. This observation may be of fundamental importance regarding the various mechanisms of imprinting and its biological significance.
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(1996)
Science
, vol.272
, pp. 725-728
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Lasalle, J.M.1
Lalande, M.2
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48
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0032539549
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Identification of a silencing element in the human 15q11-q13 imprinting center using transgenic Drosophila
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of outstanding interest. A report that a small genomic fragment near the promoter for SNRPN can function in cis as a silencing element when transfected into Drosophila. This general strategy may prove particularly valuable for understanding mechanisms of imprinting and gene regulation across species.
-
Lyko F, Buiting K, Horsthemke B, Paro R. Identification of a silencing element in the human 15q11-q13 imprinting center using transgenic Drosophila. of outstanding interest Proc Natl Acad Sci USA. 95:1998;1698-1702 A report that a small genomic fragment near the promoter for SNRPN can function in cis as a silencing element when transfected into Drosophila. This general strategy may prove particularly valuable for understanding mechanisms of imprinting and gene regulation across species.
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(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 1698-1702
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Lyko, F.1
Buiting, K.2
Horsthemke, B.3
Paro, R.4
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49
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0030950759
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An imprinting element from the mouse H19 locus functions as a silencer in Drosophila
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Lyko F, Brenton JD, Surani MA, Paro R. An imprinting element from the mouse H19 locus functions as a silencer in Drosophila. Nat Genet. 16:1997;171-173.
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Nat Genet
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Lyko, F.1
Brenton, J.D.2
Surani, M.A.3
Paro, R.4
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50
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0025871554
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A novel brain-specific mRNA encoding nuclear protein (necdin) expressed in neurally differentiated embryonal carcinoma cells
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Maruyama K, Usami M, Aizawa T, Yoshikawa K. A novel brain-specific mRNA encoding nuclear protein (necdin) expressed in neurally differentiated embryonal carcinoma cells. Biochem Biophys Res Commun. 178:1991;291-296.
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51
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0026729978
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Expression of necdin, an embryonal carcinoma-derived nuclear protein, in developing mouse brain
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Aizawa T, Maruyama K, Kondo H, Yoshikawa K. Expression of necdin, an embryonal carcinoma-derived nuclear protein, in developing mouse brain. Brain Res Dev Brain Res. 68:1992;265-274.
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Arrest of cell growth by necdin, a nuclear protein expressed in postmitotic neurons
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Hayashi Y, Matsuyama K, Takagi K, Sugiura H, Yoshikawa K. Arrest of cell growth by necdin, a nuclear protein expressed in postmitotic neurons. Biochem Biophys Res Commun. 213:1995;317-324.
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Maruyama E. Biochemical characterization of mouse brain necdin. Biochem J. 314:1996;895-901.
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Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint
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Schulze A, Hansen C, Skakkebaek NE, Brondum-Nielsen K, Ledbetter DH, Tommerup N. Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Nat Genet. 12:1996;452-454.
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Schulze, A.1
Hansen, C.2
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Brondum-Nielsen, K.4
Ledbetter, D.H.5
Tommerup, N.6
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55
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0030761243
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Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome
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Conroy JM, Grebe TA, Becker LA, Tsuchiya K, Nicholls RD, Buiting K, Horsthemke B, Cassidy SB, Schwartz S. Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome. Am J Hum Genet. 61:1997;388-394.
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Am J Hum Genet
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Conroy, J.M.1
Grebe, T.A.2
Becker, L.A.3
Tsuchiya, K.4
Nicholls, R.D.5
Buiting, K.6
Horsthemke, B.7
Cassidy, S.B.8
Schwartz, S.9
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56
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0029985822
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Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
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Sun Y, Nicholls RD, Butler MG, Saitoh S, Hainline BE, Palmer CG. Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient. Hum Mol Genet. 5:1996;517-524.
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Sun, Y.1
Nicholls, R.D.2
Butler, M.G.3
Saitoh, S.4
Hainline, B.E.5
Palmer, C.G.6
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57
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0028856310
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Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus
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Johnson DK, Stubbs LJ, Culiat CT, Montgomery CS, Russell LB, Rinchik EM. Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus. Genetics. 141:1995;1563-1571.
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Genetics
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Johnson, D.K.1
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Culiat, C.T.3
Montgomery, C.S.4
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Rinchik, E.M.6
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58
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0027396829
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Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53
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Huibregtse JM, Scheffner M, Howley PM. Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53. Mol Cell Biol. 13:1993;775-784.
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59
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0028898424
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Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade
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Scheffner M, Nuber U, Huibregtse JM. Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade. Nature. 373:1995;81-83.
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Scheffner, M.1
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Huibregtse, J.M.3
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60
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0031230614
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Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
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of outstanding interest. One of three simultaneous reports [60-62] of brain-specific imprinting with maternal expression of UBE3A, in this case in the human. Transcription was found to be imprinted from two promoters studied.
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Vu TH, Hoffman AR. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. of outstanding interest Nat Genet. 17:1997;12-13 One of three simultaneous reports [60-62] of brain-specific imprinting with maternal expression of UBE3A, in this case in the human. Transcription was found to be imprinted from two promoters studied.
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(1997)
Nat Genet
, vol.17
, pp. 12-13
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Vu, T.H.1
Hoffman, A.R.2
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61
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0031228039
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The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
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of outstanding interest. One of three simultaneous reports [60-62] of brain-specific imprinting with maternal expression of UBE3A, in this case in the human. Multiple different alternatively spliced transcripts were all found to be imprinted in the brain.
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Rougeulle C, Glatt H, Lalande M. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. of outstanding interest Nat Genet. 17:1997;14-15 One of three simultaneous reports [60-62] of brain-specific imprinting with maternal expression of UBE3A, in this case in the human. Multiple different alternatively spliced transcripts were all found to be imprinted in the brain.
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(1997)
Nat Genet
, vol.17
, pp. 14-15
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Rougeulle, C.1
Glatt, H.2
Lalande, M.3
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62
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0030879482
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Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
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of outstanding interest. One of three simultaneous reports [60-62] of brain-specific imprinting with maternal expression of Ube3a, in this case in the mouse, including evidence that expression is imprinted specifically in hippocampal neurons and Purkinje cells.
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Albrecht U, Sutcliffe JS, Cattanach BM, Beechey CV, Armstrong D, Eichele G, Beaudet AL. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. of outstanding interest Nat Genet. 17:1997;75-78 One of three simultaneous reports [60-62] of brain-specific imprinting with maternal expression of Ube3a, in this case in the mouse, including evidence that expression is imprinted specifically in hippocampal neurons and Purkinje cells.
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(1997)
Nat Genet
, vol.17
, pp. 75-78
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Albrecht, U.1
Sutcliffe, J.S.2
Cattanach, B.M.3
Beechey, C.V.4
Armstrong, D.5
Eichele, G.6
Beaudet, A.L.7
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63
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0031177936
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A candidate model for Angelman syndrome in the mouse
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of outstanding interest. The first report of a mouse model for AS using the strategy so elegantly developed by this group for analysis of UPD and imprinting. This was the first evidence that maternal deficiency for this smaller region caused a phenotype in the mouse and that the phenotype showed some similarity to human AS.
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Cattanach BM, Barr JA, Beechey CV, Martin J, Noebels J, Jones J. A candidate model for Angelman syndrome in the mouse. of outstanding interest Mamm Genome. 8:1997;472-478 The first report of a mouse model for AS using the strategy so elegantly developed by this group for analysis of UPD and imprinting. This was the first evidence that maternal deficiency for this smaller region caused a phenotype in the mouse and that the phenotype showed some similarity to human AS.
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(1997)
Mamm Genome
, vol.8
, pp. 472-478
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Cattanach, B.M.1
Barr, J.A.2
Beechey, C.V.3
Martin, J.4
Noebels, J.5
Jones, J.6
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64
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0031569842
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The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing
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of outstanding interest. A characterization of the genomic locus for UBE3A including the demonstration of alternative splicing of the most upstream exons and the potential for three protein isoforms.
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Yamamoto Y, Huibregtse JM, Howley PM. The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing. of outstanding interest Genomics. 41:1997;263-266 A characterization of the genomic locus for UBE3A including the demonstration of alternative splicing of the most upstream exons and the potential for three protein isoforms.
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(1997)
Genomics
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Yamamoto, Y.1
Huibregtse, J.M.2
Howley, P.M.3
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65
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Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse
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Lyon MF, King TR, Gondo Y, Gardner JM, Nakatsu Y, Eicher EM, Brilliant MH. Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse. Proc Natl Acad Sci USA. 89:1992;6968-6972.
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Lyon, M.F.1
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The critical region for Angelman syndrome lies between D15S122 and D15S113
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Greger V, Knoll JH, Wagstaff J, Woolf E, Lieske P, Glatt H, Benn PA, Rosengren SS, Lalande M. Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3. Am J Hum Genet. 60:1997;574-580.
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Am J Hum Genet
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Greger, V.1
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The E6-AP ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region
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Sutcliffe JS, Jiang Y-H, Galjaard R-J, Matsuura T, Fang P, Kubota T, Christian SL, Bressler J, Cattanach B, Ledbetter DH, Beaudet AL. The E6-AP ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. Genome Res. 7:1997;368-377.
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Sutcliffe, J.S.1
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69
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The elusive Angelman syndrome critical region
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Trent RJ, Sheffield LJ, Deng ZM, Kim WS, Nassif NT, Ryce C, Woods CG, Michaelis RC, Tarleton J, Smith A. The elusive Angelman syndrome critical region. J Med Genet. 34:1997;714-718.
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Trent, R.J.1
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70
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0028786947
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Deficiency of the β3 subunit of the type A γ-aminobutyric acid receptor causes cleft palate in mice
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Culiat CT, Stubbs LJ, Woychik RP, Russell LB, Johnson DK, Rinchik EM. Deficiency of the β3 subunit of the type A γ-aminobutyric acid receptor causes cleft palate in mice. Nat Genet. 11:1995;344-346.
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Culiat, C.T.1
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71
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Mice devoid of γ-aminobutyrate type A receptor β3 subunit have epilepsy, cleft palate, and hypersensitive behavior
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of outstanding interest. A report of knockout mice for Gabrb3 demonstrating that these mice have epilepsy and cleft palate. Perhaps importantly for genotype/phenotype considerations in the human, there is evidence of EEG abnormalities in heterozygotes, although maternal and paternal heterozygotes were not distinguished.
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Homanics GE, Delorey TM, Firestone LL, Quinlan JJ, Handforth A, Harrison NL, Krasowski MD, Rick CE, Korpi ER, Makela R, et al. Mice devoid of γ-aminobutyrate type A receptor β3 subunit have epilepsy, cleft palate, and hypersensitive behavior. of outstanding interest Proc Natl Acad Sci USA. 94:1997;4143-4148 A report of knockout mice for Gabrb3 demonstrating that these mice have epilepsy and cleft palate. Perhaps importantly for genotype/phenotype considerations in the human, there is evidence of EEG abnormalities in heterozygotes, although maternal and paternal heterozygotes were not distinguished.
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Proc Natl Acad Sci USA
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Homanics, G.E.1
Delorey, T.M.2
Firestone, L.L.3
Quinlan, J.J.4
Handforth, A.5
Harrison, N.L.6
Krasowski, M.D.7
Rick, C.E.8
Korpi, E.R.9
Makela, R.10
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0031747932
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A mouse model for Prader-Willi syndrome imprinting-centre mutations
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of outstanding interest. This publication demonstrates that mutations inactivating Snrpn do not cause an obvious phenotypic abnormality in the mouse. A 42 kb deletion encompassing the Snrpn promoter was prepared on a maternal chromosome in ES cells and transmitted through a male chimera; this deletion resulted in perinatal lethality due to an imprinting mutation.
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Yang T, Adamson TE, Resnick JL, Leff S, Wevrick R, Francke U, Jenkins NA, Copeland NG, Brannan CI. A mouse model for Prader-Willi syndrome imprinting-centre mutations. of outstanding interest Nat Genet. 19:1997;25-31 This publication demonstrates that mutations inactivating Snrpn do not cause an obvious phenotypic abnormality in the mouse. A 42 kb deletion encompassing the Snrpn promoter was prepared on a maternal chromosome in ES cells and transmitted through a male chimera; this deletion resulted in perinatal lethality due to an imprinting mutation.
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(1997)
Nat Genet
, vol.19
, pp. 25-31
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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
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