-
1
-
-
0026712218
-
Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome
-
Clayton-Smith, J., Webb, T., Robb, S.A., Dijkstra, I., Willems, P., Lam, S., Chen, X.-J., Pemprey, M.E., and Malcolm, S. (1992) Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome. Am. J. Med. Genet., 44:256-260.
-
(1992)
Am. J. Med. Genet.
, vol.44
, pp. 256-260
-
-
Clayton-Smith, J.1
Webb, T.2
Robb, S.A.3
Dijkstra, I.4
Willems, P.5
Lam, S.6
Chen, X.-J.7
Pemprey, M.E.8
Malcolm, S.9
-
2
-
-
0027048823
-
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome
-
Meijers-Heijboer, E.J., Sandkuijl, L.A., Brunner, H.G., Smeets, H.J.M., Hoogeboom, A.J.M., Deelen, W.H., van Hemel, J.O., Nelen, M.R., Smeets, D.F.C.M., Niermejer, M.F., and Halley, D.J.J. (1992) Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome. J. Med. Genet., 29:853-857.
-
(1992)
J. Med. Genet.
, vol.29
, pp. 853-857
-
-
Meijers-Heijboer, E.J.1
Sandkuijl, L.A.2
Brunner, H.G.3
Smeets, H.J.M.4
Hoogeboom, A.J.M.5
Deelen, W.H.6
Van Hemel, J.O.7
Nelen, M.R.8
Smeets, D.F.C.M.9
Niermejer, M.F.10
Halley, D.J.J.11
-
3
-
-
0026893703
-
Maternal but not paternal transmission of 15qq11-q13-linked nondeletion Angelman syndrome leads to phenotypic expression
-
Wagstaff, J., Knoll, J.H.M., Glatt, K.A., Shugart, Y.Y., Sommer, A., and Lalande, M. (1992) Maternal but not paternal transmission of 15qq11-q13-linked nondeletion Angelman syndrome leads to phenotypic expression. Nature Genet., 1:291-294.
-
(1992)
Nature Genet.
, vol.1
, pp. 291-294
-
-
Wagstaff, J.1
Knoll, J.H.M.2
Glatt, K.A.3
Shugart, Y.Y.4
Sommer, A.5
Lalande, M.6
-
4
-
-
0027517157
-
Linkage analysis in familial Angelman syndrome
-
Wagstaff, J., Shugart, Y.Y., and Lalande, M. (1993) Linkage analysis in familial Angelman syndrome. Am. J. Hum. Genet., 53:105-112.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 105-112
-
-
Wagstaff, J.1
Shugart, Y.Y.2
Lalande, M.3
-
5
-
-
0023639330
-
Familial Prader-Willi syndrome with apparently normal chromosomes
-
Lubinsky, M., Zellweger, H., Greenswag, L., Larson, G., Hansmann, I., and Ledbetter, D. (1987) Familial Prader-Willi syndrome with apparently normal chromosomes. Am. J. Med. Genet., 28:37-43.
-
(1987)
Am. J. Med. Genet.
, vol.28
, pp. 37-43
-
-
Lubinsky, M.1
Zellweger, H.2
Greenswag, L.3
Larson, G.4
Hansmann, I.5
Ledbetter, D.6
-
6
-
-
84942004377
-
Familial Prader-Willi syndrome
-
Burke, C.M., Kouseff, B.G., Gleeson, M., O'Connell, B.M., and Devlin, J.G. (1987) Familial Prader-Willi syndrome. Arch. Intern. Med., 147:673-675.
-
(1987)
Arch. Intern. Med.
, vol.147
, pp. 673-675
-
-
Burke, C.M.1
Kouseff, B.G.2
Gleeson, M.3
O'Connell, B.M.4
Devlin, J.G.5
-
7
-
-
0023230003
-
Prader-Willi syndrome in two siblings: One with normal karyotype, one with a terminal deletion of distal Xq
-
Ishikawa, T., Kanayama, M., and Wada, Y. (1987) Prader-Willi syndrome in two siblings: One with normal karyotype, one with a terminal deletion of distal Xq. Clin. Genet., 32:295-299.
-
(1987)
Clin. Genet.
, vol.32
, pp. 295-299
-
-
Ishikawa, T.1
Kanayama, M.2
Wada, Y.3
-
8
-
-
0026779152
-
Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13
-
Örstavik, K.H., Tangsrud, S.E., Kiil, R., Hansteen, I.L., Steen-Johnson, J., Cassidy, S.B., Marony, A., Anvret, M., Tommerup, N., and Bröndum-Nielsen, K. (1992) Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13. Am. J. Med. Genet., 44:534-538.
-
(1992)
Am. J. Med. Genet.
, vol.44
, pp. 534-538
-
-
Örstavik, K.H.1
Tangsrud, S.E.2
Kiil, R.3
Hansteen, I.L.4
Steen-Johnson, J.5
Cassidy, S.B.6
Marony, A.7
Anvret, M.8
Tommerup, N.9
Bröndum-Nielsen, K.10
-
9
-
-
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., and Horsthemke, B. (1994) 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
Horsthemke, B.8
-
10
-
-
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. (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nature Genet., 9:395-400.
-
(1995)
Nature 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
-
11
-
-
0019377986
-
Deletions of chromosome 15 as a cause of the Prader-willi syndrome
-
Ledbetter, D., Riccardi, V.M., Airhart, S.D., Strobel, R.J., Keenan, B.S., and Crawford, J.D. (1981) Deletions of chromosome 15 as a cause of the Prader-willi syndrome. N. Engl. J. Med., 304:325-329.
-
(1981)
N. Engl. J. Med.
, vol.304
, pp. 325-329
-
-
Ledbetter, D.1
Riccardi, V.M.2
Airhart, S.D.3
Strobel, R.J.4
Keenan, B.S.5
Crawford, J.D.6
-
12
-
-
0023617404
-
Clinical heterogeneity associated with deletions in the long arm of chromosome 15: Report of 3 new cases and their possible significance
-
Kaplan, L.C., Wharton, R., Elias, E., Mandell, F., Donlon, T., and Latt, S.A. (1987) Clinical heterogeneity associated with deletions in the long arm of chromosome 15: Report of 3 new cases and their possible significance. Am. J. Med. Genet., 25:45-53.
-
(1987)
Am. J. Med. Genet.
, vol.25
, pp. 45-53
-
-
Kaplan, L.C.1
Wharton, R.2
Elias, E.3
Mandell, F.4
Donlon, T.5
Latt, S.A.6
-
13
-
-
0023522069
-
Is Angelman syndrome an alternate result of del(15)(q11q13)?
-
Magenis, R.E., Brown, M.G., Lacy, D.A., Budden, S., and 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
-
14
-
-
0024494063
-
The association of Angelman's syndrome with deletions within 15q11-13
-
Pembrey, M., Fennell, S.J., van den Berghe, J., Fitchett, M., Summers, D., Butler, L., Clarke C., Griffiths, M., Thompson, E., Super, M., and Baraitser, M. (1989) The association of Angelman's syndrome with deletions within 15q11-13. J. Med. Genet., 26:73-77.
-
(1989)
J. Med. Genet.
, vol.26
, pp. 73-77
-
-
Pembrey, M.1
Fennell, S.J.2
Van Den Berghe, J.3
Fitchett, M.4
Summers, D.5
Butler, L.6
Clarke, C.7
Griffiths, M.8
Thompson, E.9
Super, M.10
Baraitser, M.11
-
15
-
-
0027787530
-
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, J.S., Nakao, M., McKinney, M.J., Buiting, K., Horsthemke, B., Beaudet, A.L., Chinault, A.C., and Ledbetter, D.H. (1993) A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics, 18:546-552.
-
(1993)
Genomics
, vol.18
, pp. 546-552
-
-
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
-
16
-
-
0026920425
-
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis
-
Corrigendum Hum. Molec. Genet., 1:784
-
Kuwano, A., Mutirangura, A., Dittrich, B., Buiting, K., Horsthemke, B., Saitoh, S., Niikawa, N., Ledbetter, S.A., Greenberg, F., Chinault, A.C., and Ledbetter, D.H. (1992) Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.Hum. Molec. Genet., 1:417-425 (Corrigendum Hum. Molec. Genet., 1:784).
-
(1992)
Hum. Molec. Genet.
, vol.1
, pp. 417-425
-
-
Kuwano, A.1
Mutirangura, A.2
Dittrich, B.3
Buiting, K.4
Horsthemke, B.5
Saitoh, S.6
Niikawa, N.7
Ledbetter, S.A.8
Greenberg, F.9
Chinault, A.C.10
Ledbetter, D.H.11
-
17
-
-
0029011991
-
Molecular characterization of two proximal deletion breakpoint regions in Prader-Willi and Angelman syndrome patients
-
Christian, S.L., Robinson, W.P., Huang, B., Mutirangura, A., Line, M.R., Nakao, M., Surti, U., Chakravarti, A., and Ledbetter, D.H. (1995) Molecular characterization of two proximal deletion breakpoint regions in Prader-Willi and Angelman syndrome patients. Am. J. Hum. Genet., 57:40-48.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 40-48
-
-
Christian, S.L.1
Robinson, W.P.2
Huang, B.3
Mutirangura, A.4
Line, M.R.5
Nakao, M.6
Surti, U.7
Chakravarti, A.8
Ledbetter, D.H.9
-
18
-
-
0026636630
-
A putative gene family in 15q11-13 and 16p11.2: Possible implications for Prader-Willi and Angelman syndromes
-
Buiting, K., Greger, V., Brownstein, B.H., Mohr, R.M., Voiculescu, I., Winterpacht, A., Zabel, B., and Horsthemke, B. (1992) A putative gene family in 15q11-13 and 16p11.2: Possible implications for Prader-Willi and Angelman syndromes. Proc. Natl. Acad Sci. USA, 89:5457-5461.
-
(1992)
Proc. Natl. Acad Sci. USA
, vol.89
, pp. 5457-5461
-
-
Buiting, K.1
Greger, V.2
Brownstein, B.H.3
Mohr, R.M.4
Voiculescu, I.5
Winterpacht, A.6
Zabel, B.7
Horsthemke, B.8
-
19
-
-
0024619007
-
Angelman and Prader-Willi syndrome share a common chromosome 15 deletion but differ in parental origin of the deletion
-
Knoll, J.H.M., Nicholls, R.D., Magenis, R.E., Graham, J.M., Jr., Lalande, M., and Latt, S.A. (1989) Angelman and Prader-Willi syndrome 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.M.1
Nicholls, R.D.2
Magenis, R.E.3
Graham Jr., J.M.4
Lalande, M.5
Latt, S.A.6
-
20
-
-
0024440608
-
Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome
-
Nicholls, R.D., Knoll, J.H.M., Butler, M.G., Karam, S., and Lalande, M. (1989) Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature, 342:281-285.
-
(1989)
Nature
, vol.342
, pp. 281-285
-
-
Nicholls, R.D.1
Knoll, J.H.M.2
Butler, M.G.3
Karam, S.4
Lalande, M.5
-
21
-
-
0026647855
-
The frequency of uniparental disomy in Prader-willi syndrome
-
Mascari, M.J., Gottlieb, W., Rogan, P.K., Butler, M.G., Waller, D.A., and Nicholls, R.D. (1992) The frequency of uniparental disomy in Prader-willi syndrome. N. Engl. J. Med., 326:1599-1607.
-
(1992)
N. Engl. J. Med.
, vol.326
, pp. 1599-1607
-
-
Mascari, M.J.1
Gottlieb, W.2
Rogan, P.K.3
Butler, M.G.4
Waller, D.A.5
Nicholls, R.D.6
-
22
-
-
0026080417
-
Uniparental paternal disomy in Angelman's syndrome
-
Malcolm, S., Clayton-Smith, J., Nichols, M, Robb, S. Well, T., Armour, J.A.L., Jeffreys, A.J., Pemprey, M.E. (1991) Uniparental paternal disomy in Angelman's syndrome. Lancet, 337:694-697.
-
(1991)
Lancet
, vol.337
, pp. 694-697
-
-
Malcolm, S.1
Clayton-Smith, J.2
Nichols, M.3
Robb, S.4
Well, T.5
Armour, J.A.L.6
Jeffreys, A.J.7
Pemprey, M.E.8
-
23
-
-
0028219414
-
Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?
-
Bottani, A., Robinson, W.P., DeLozier-Blanchet, C.D., Engel, E., Morris, M.A., Schmitt, B., Thun-Hohenstein, L., and Schinzel, A. (1994) Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype? Am. J. Med. Genet., 51:35-40.
-
(1994)
Am. J. Med. Genet.
, vol.51
, pp. 35-40
-
-
Bottani, A.1
Robinson, W.P.2
DeLozier-Blanchet, C.D.3
Engel, E.4
Morris, M.A.5
Schmitt, B.6
Thun-Hohenstein, L.7
Schinzel, A.8
-
24
-
-
0029640958
-
Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype
-
Gillessen-Kaesbach, G., Albrecht, A., Passarge, E., and Horsthemke, B. (1995) Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype. Am. J. Med. Genet., 56:328-329.
-
(1995)
Am. J. Med. Genet.
, vol.56
, pp. 328-329
-
-
Gillessen-Kaesbach, G.1
Albrecht, A.2
Passarge, E.3
Horsthemke, B.4
-
25
-
-
0027872461
-
Increased parental ages and uniparental disomy 15: A paternal age effect?
-
Robinson, W.P., Lorda-Sanchez, I., Malcolm, S., Langlois, S., Schuffenhauer, S., Knoblauch, H., Horsthemke, B., and Schinzel, A. (1993) Increased parental ages and uniparental disomy 15: A paternal age effect? Eur. J. Hum. Genet., 1:280-286.
-
(1993)
Eur. J. Hum. Genet.
, vol.1
, pp. 280-286
-
-
Robinson, W.P.1
Lorda-Sanchez, I.2
Malcolm, S.3
Langlois, S.4
Schuffenhauer, S.5
Knoblauch, H.6
Horsthemke, B.7
Schinzel, A.8
-
26
-
-
0027473988
-
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/ Angelman critical region (15q11-13): Molecular diagnosis and mechanism of uniparental disomy
-
Mutirangura, A., Greenberg, F., Butler, M.G., Malcolm, S., Nicholls, R.D., Chakravarti, A., and Ledbetter, D.H. (1993) Multiplex PCR of three dinucleotide repeats in the Prader-Willi/ Angelman critical region (15q11-13): Molecular diagnosis and mechanism of uniparental disomy. Hum. Molec. Genet., 2:143-151.
-
(1993)
Hum. Molec. 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
-
27
-
-
0026338111
-
3 subunit to the Angelman/ Prader-Willi region of human chromosome 15
-
3 subunit to the Angelman/ Prader-Willi region of human chromosome 15. Am. J. Hum. Genet., 49:330-337.
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 330-337
-
-
Wagstaff, J.1
Knoll, J.H.M.2
Fleming, J.3
Kirkness, E.F.4
Martin-Gallardo, A.5
Greenberg, F.6
Graham Jr., J.M.7
Menninger, J.8
Ward, D.9
Venter, C.10
Lalande, M.11
-
28
-
-
0026500579
-
3-subunit gene
-
3-subunit gene. Lancet, 339:366-367.
-
(1992)
Lancet
, vol.339
, pp. 366-367
-
-
Saitoh, S.1
Kubota, T.2
Ohta, T.3
Jinno, Y.4
Niikawa, N.5
Sugimoto, T.6
Wagstaff, J.7
-
29
-
-
0027738562
-
Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene
-
Buiting, K., Dittrich, B., Groß, S., Greger, V., Lalande, M., Robinson, W.P., Mutiranagura, A., Ledbetter, D., and Horsthemke, B. (1993) Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. Hum. Molec. Genet., 2:1991-1994.
-
(1993)
Hum. Molec. Genet.
, vol.2
, pp. 1991-1994
-
-
Buiting, K.1
Dittrich, B.2
Groß, S.3
Greger, V.4
Lalande, M.5
Robinson, W.P.6
Mutiranagura, A.7
Ledbetter, D.8
Horsthemke, B.9
-
30
-
-
0027026716
-
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region
-
Özcelik, T., Leff, S., Robinson, W., Donlon, T., Lalande, M., Sanjines, E., Schinzel, A., and Francke, U. (1992) Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nature Genet., 2:265-269.
-
(1992)
Nature Genet.
, vol.2
, pp. 265-269
-
-
Özcelik, T.1
Leff, S.2
Robinson, W.3
Donlon, T.4
Lalande, M.5
Sanjines, E.6
Schinzel, A.7
Francke, U.8
-
31
-
-
0028289468
-
Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome
-
Reed, M., and Leff, S. (1994) Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Nature Genet., 6:163-167.
-
(1994)
Nature Genet.
, vol.6
, pp. 163-167
-
-
Reed, M.1
Leff, S.2
-
32
-
-
0027730805
-
Functional imprinting and epigenetic modification of the human SNRPN gene
-
Glenn, C.C., Porter, K.A., Jong, M.T.C., Nicholls, R.D., and Driscoll, D.J. (1993) Functional imprinting and epigenetic modification of the human SNRPN gene. Hum. Molec. Genet., 2:20001-2005.
-
(1993)
Hum. Molec. Genet.
, vol.2
, pp. 20001-22005
-
-
Glenn, C.C.1
Porter, K.A.2
Jong, M.T.C.3
Nicholls, R.D.4
Driscoll, D.J.5
-
33
-
-
0028044579
-
Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E)
-
Nakao, M., Sutcliffe, J.S., Durtschi, B., Mutirangura, A., Ledbetter, D.H., and Beaudet, A.L. (1994) Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E). Hum. Molec. Genet., 3:309-315.
-
(1994)
Hum. Molec. Genet.
, vol.3
, pp. 309-315
-
-
Nakao, M.1
Sutcliffe, J.S.2
Durtschi, B.3
Mutirangura, A.4
Ledbetter, D.H.5
Beaudet, A.L.6
-
34
-
-
0028133293
-
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
-
Sutcliffe, J.S., Nakao, M., Mutirangura, A., Christian, S., Örstavik, K.H., Tommerup, N., Ledbetter, D.H., and Beaudet, A.L. (1994) Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nature Genet., 8:52-58.
-
(1994)
Nature Genet.
, vol.8
, pp. 52-58
-
-
Sutcliffe, J.S.1
Nakao, M.2
Mutirangura, A.3
Christian, S.4
Örstavik, K.H.5
Tommerup, N.6
Ledbetter, D.H.7
Beaudet, A.L.8
-
35
-
-
0028124726
-
Identification of a novel paternally expressed gene in the Prader-Willi syndrome region
-
Wevrick, R., Kerns, J.A., and Francke, U. (1994) Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum. Molec. Genet., 3:1877-1882.
-
(1994)
Hum. Molec. Genet.
, vol.3
, pp. 1877-1882
-
-
Wevrick, R.1
Kerns, J.A.2
Francke, U.3
-
36
-
-
0025891042
-
Replication Asynchrony between homologs 15q11.2: Cytogenetic evidence for genomic imprinting
-
Izumikawa, Y., Naritomi, K., and Hirayama, K. (1991) Replication Asynchrony between homologs 15q11.2: Cytogenetic evidence for genomic imprinting. Hum. Genet., 87:1-5.
-
(1991)
Hum. Genet.
, vol.87
, pp. 1-5
-
-
Izumikawa, Y.1
Naritomi, K.2
Hirayama, K.3
-
37
-
-
0027205671
-
Allele-specific replication timing of imprinted gene regions
-
Kitsberg, D., Selig, S., Brandeis, M., Simon, I., Keshet, I., Driscoll, D.J., Nicholls, R.D., and Cedar, H. (1993) Allele-specific replication timing of imprinted gene regions. Nature, 364:459-463.
-
(1993)
Nature
, vol.364
, pp. 459-463
-
-
Kitsberg, D.1
Selig, S.2
Brandeis, M.3
Simon, I.4
Keshet, I.5
Driscoll, D.J.6
Nicholls, R.D.7
Cedar, H.8
-
38
-
-
0028260642
-
Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region
-
Knoll, J.H.M., Cheng, S.-D., and Lalande, M. (1994) Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region. Nature Genet., 6:41-46.
-
(1994)
Nature Genet.
, vol.6
, pp. 41-46
-
-
Knoll, J.H.M.1
Cheng, S.-D.2
Lalande, M.3
-
39
-
-
0026700732
-
A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes
-
Driscoll, D.J., Waters, M.F., Williams, C.A., Zori, R.T., Glenn, C.C., Avidano, K.M., and Nicholls, R.D. (1992) A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics, 13:917-924.
-
(1992)
Genomics
, vol.13
, pp. 917-924
-
-
Driscoll, D.J.1
Waters, M.F.2
Williams, C.A.3
Zori, R.T.4
Glenn, C.C.5
Avidano, K.M.6
Nicholls, R.D.7
-
40
-
-
0028343218
-
Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and ist diagnostic implications
-
Buiting, K., Dittrich, B., Robinson, W.P., Guitart, M., Abeliovich, D., Lerer, I., and Horsthemke, B. (1994) Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and ist diagnostic implications. Hum. Molec. Genet., 3:893-895.
-
(1994)
Hum. Molec. Genet.
, vol.3
, pp. 893-895
-
-
Buiting, K.1
Dittrich, B.2
Robinson, W.P.3
Guitart, M.4
Abeliovich, D.5
Lerer, I.6
Horsthemke, B.7
-
41
-
-
0025375184
-
Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences
-
Buiting, K., Neumann M, Lüdecke, H.J., Senger, G., Claussen, U., Antich, J., Passarge, E., and Horsthemke, B. (1990) Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences. Genomics, 6:521-527.
-
(1990)
Genomics
, vol.6
, pp. 521-527
-
-
Buiting, K.1
Neumann, M.2
Lüdecke, H.J.3
Senger, G.4
Claussen, U.5
Antich, J.6
Passarge, E.7
Horsthemke, B.8
-
42
-
-
0026595355
-
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13
-
Dittrich, B., Robinson, W.P., Knoblauch, H., Buiting, K., Schmidt, K., Gillessen-Kaesbach, G., and Horsthemke, B. (1992) Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. 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
-
43
-
-
0027741188
-
Characterization of a methylation imprint in the Prader-Willi syndrome region
-
Dittrich, B., Buiting, K., Groß, S., and Horsthemke, B. (1993) Characterization of a methylation imprint in the Prader-Willi syndrome region. Hum. Molec. Genet., 2:1995-1999.
-
(1993)
Hum. Molec. Genet.
, vol.2
, pp. 1995-1999
-
-
Dittrich, B.1
Buiting, K.2
Groß, S.3
Horsthemke, B.4
-
44
-
-
0027169927
-
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients
-
Glenn, C.C., Nicholls, R.D., Robinson, W.P., Saitoh, S., Niikawa, N., Schinzel, A., Horsthemke, B., and Driscoll, D.J. (1993) Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum. Molec. Genet., 9:1377-1382.
-
(1993)
Hum. Molec. Genet.
, vol.9
, 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
Driscoll, D.J.8
-
45
-
-
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., Driscoll, D.J., Arnemann, J., König, R., Malcolm, S., Horsthemke, B., and Nicholls, R.D. (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.4
Driscoll, D.J.5
Arnemann, J.6
König, R.7
Malcolm, S.8
Horsthemke, B.9
Nicholls, R.D.10
-
46
-
-
0028933627
-
Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region
-
Gunaratne, P.H., Nakao, M., Ledbetter, D.H., Sutcliffe, J.S., and Chinault, A.C. (1995) Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region. Genes Dev., 9:808-820.
-
(1995)
Genes Dev.
, vol.9
, pp. 808-820
-
-
Gunaratne, P.H.1
Nakao, M.2
Ledbetter, D.H.3
Sutcliffe, J.S.4
Chinault, A.C.5
-
47
-
-
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.N., Poustka, A., Winterpacht, A., Zabel, B., and Horsthemke, B. (1996) Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nature Genet., 14:163-170.
-
(1996)
Nature 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.N.7
Poustka, A.8
Winterpacht, A.9
Zabel, B.10
Horsthemke, B.11
-
48
-
-
0030052505
-
Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene
-
Glenn, C.C., Saitoh, S., Jong, M.T.C., Filbrandt, M.M., Surti, U., Driscoll, D.J., and Nicholls, R.D. (1996) Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. Am. J. Hum. Genet., 58:335-346.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 335-346
-
-
Glenn, C.C.1
Saitoh, S.2
Jong, M.T.C.3
Filbrandt, M.M.4
Surti, U.5
Driscoll, D.J.6
Nicholls, R.D.7
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