-
1
-
-
0031055223
-
Genomic imprinting - Nature and clinical relevance
-
Hall, J.G. (1997) Genomic imprinting - nature and clinical relevance. Annu. Rev. Med., 48, 35-44.
-
(1997)
Annu. Rev. Med.
, vol.48
, pp. 35-44
-
-
Hall, J.G.1
-
2
-
-
0030458551
-
Parental imprinting and human disease
-
Lalande, M. (1996) Parental imprinting and human disease. Annu. Rev. Genet., 30, 173-195.
-
(1996)
Annu. Rev. Genet.
, vol.30
, pp. 173-195
-
-
Lalande, M.1
-
3
-
-
0033036021
-
Genomic imprinting: Implications for human disease
-
Falls, J.G., Pulford, D.J., Wylie, A.A. and Jirtle, R.L. (1999) Genomic imprinting: implications for human disease. Am. J. Pathol., 154, 635-647.
-
(1999)
Am. J. Pathol.
, vol.154
, pp. 635-647
-
-
Falls, J.G.1
Pulford, D.J.2
Wylie, A.A.3
Jirtle, R.L.4
-
4
-
-
0030698319
-
Growth effects of uniparental disomies and the conflict theory of genomic imprinting
-
Hurst, L.D. and McVean, G.T. (1997) Growth effects of uniparental disomies and the conflict theory of genomic imprinting. Trends Genet., 13, 436-443.
-
(1997)
Trends Genet.
, vol.13
, pp. 436-443
-
-
Hurst, L.D.1
McVean, G.T.2
-
5
-
-
0032076307
-
Imprinting in Prader-Willi and Angelman syndromes
-
Nicholls, R.D., Saitoh, S. and Horsthemke, B. (1998) Imprinting in Prader-Willi and Angelman syndromes. Trends Genet., 14, 194-200.
-
(1998)
Trends Genet.
, vol.14
, pp. 194-200
-
-
Nicholls, R.D.1
Saitoh, S.2
Horsthemke, B.3
-
6
-
-
0030856668
-
Imprinting in clusters: Lessons from Beckwith-Wiedemann syndrome
-
Reik, W. and Maher, E.R. (1997) Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome. Trends Genet., 13, 330-334.
-
(1997)
Trends Genet.
, vol.13
, pp. 330-334
-
-
Reik, W.1
Maher, E.R.2
-
8
-
-
0033593288
-
The sins of the fathers and mothers: Genomic imprinting in mammalian development
-
Tilghman, S.M. (1999) The sins of the fathers and mothers: genomic imprinting in mammalian development. Cell, 96, 185-193.
-
(1999)
Cell
, vol.96
, pp. 185-193
-
-
Tilghman, S.M.1
-
9
-
-
0029165883
-
An enhancer deletion affects both H19 and Igf2 expression
-
Leighton, P.A., Saam, J.R., Ingram, R.S., Stewart, C.L. and Tilghman, S.M. (1995) An enhancer deletion affects both H19 and Igf2 expression. Genes Dev., 9, 2079-2089.
-
(1995)
Genes Dev.
, vol.9
, pp. 2079-2089
-
-
Leighton, P.A.1
Saam, J.R.2
Ingram, R.S.3
Stewart, C.L.4
Tilghman, S.M.5
-
10
-
-
0030694713
-
Imprinted expression of the Igf2r gene depends on an intronic CpG island
-
Wutz, A., Smrzka, O.W., Schweifer, N., Schellander, K., Wagner, E.F. and Barlow, D.P. (1997) Imprinted expression of the Igf2r gene depends on an intronic CpG island. Nature, 389, 745-749.
-
(1997)
Nature
, vol.389
, pp. 745-749
-
-
Wutz, A.1
Smrzka, O.W.2
Schweifer, N.3
Schellander, K.4
Wagner, E.F.5
Barlow, D.P.6
-
11
-
-
0030730287
-
Multiple imprinted sense and antisense transcripts, differential methylation and tandem repeats in a putative imprinting control region upstream of mouse Igf2
-
Moore, T., Constancia, M., Zubair, M., Bailleul, B., Feil, R., Sasaki, H. and Reik, W. (1997) Multiple imprinted sense and antisense transcripts, differential methylation and tandem repeats in a putative imprinting control region upstream of mouse Igf2. Proc. Natl Acad. Sci. USA, 94, 12509-12514.
-
(1997)
Proc. Natl Acad. Sci. USA
, vol.94
, pp. 12509-12514
-
-
Moore, T.1
Constancia, M.2
Zubair, M.3
Bailleul, B.4
Feil, R.5
Sasaki, H.6
Reik, W.7
-
12
-
-
0032067559
-
An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript
-
Rougeulle, C., Cardoso, C., Fontes, M., Colleaux, L. and Lalande, M. (1998) An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nature Genet., 19, 15-16.
-
(1998)
Nature Genet.
, vol.19
, pp. 15-16
-
-
Rougeulle, C.1
Cardoso, C.2
Fontes, M.3
Colleaux, L.4
Lalande, M.5
-
13
-
-
0029587022
-
Gametic imprinting in mammals
-
Barlow, D.P. (1995) Gametic imprinting in mammals. Science, 270, 1610-1613.
-
(1995)
Science
, vol.270
, pp. 1610-1613
-
-
Barlow, D.P.1
-
14
-
-
9044240040
-
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
-
Wang, Q., Curran, M.E., Splawski, I., Burn, T.C., Millholland, J.M., VanRaay, T.J., Shen, J., Timothy, K.W., Vincent, G.M., de Jager, T., Schwartz, P.J., Toubin, J.A., Moss, A.J., Atkinson, D.L., Landes, G.M., Connors, T.D. and Keating, M.T. (1996) Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nature Genet., 12, 17-23.
-
(1996)
Nature Genet.
, vol.12
, pp. 17-23
-
-
Wang, Q.1
Curran, M.E.2
Splawski, I.3
Burn, T.C.4
Millholland, J.M.5
VanRaay, T.J.6
Shen, J.7
Timothy, K.W.8
Vincent, G.M.9
De Jager, T.10
Schwartz, P.J.11
Toubin, J.A.12
Moss, A.J.13
Atkinson, D.L.14
Landes, G.M.15
Connors, T.D.16
Keating, M.T.17
-
15
-
-
0031054075
-
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
-
Neyroud, N., Tesson, F., Denjoy, I., Leibovici, M., Donger, C., Barhanin, J., Faure, S., Gary, F., Coumel, P., Petit, C., Schwartz, K. and Guicheney, P. (1997) A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nature Genet., 15, 186-189.
-
(1997)
Nature Genet.
, vol.15
, pp. 186-189
-
-
Neyroud, N.1
Tesson, F.2
Denjoy, I.3
Leibovici, M.4
Donger, C.5
Barhanin, J.6
Faure, S.7
Gary, F.8
Coumel, P.9
Petit, C.10
Schwartz, K.11
Guicheney, P.12
-
16
-
-
0031230614
-
Imprinting of the Angelman-syndrome gene, UBE3A, is restricted to brain
-
Vu, T.H. and Hoffman, A.R. (1997) Imprinting of the Angelman-syndrome gene, UBE3A, is restricted to brain. Nature Genet., 17, 12-13.
-
(1997)
Nature Genet.
, vol.17
, pp. 12-13
-
-
Vu, T.H.1
Hoffman, A.R.2
-
17
-
-
0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
Kishino, T., Lalande, M. and Wagstaff, J. (1997) UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genet., 15, 70-73.
-
(1997)
Nature Genet.
, vol.15
, pp. 70-73
-
-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
-
18
-
-
0031031570
-
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
-
Matsuura, T., Sutcliffe, J.S., Fang, P., Galjaard, R.J., Jiang, Y.H., Benton, C.S., Rommens, J.M. and Beaudet, A.L. (1997) De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genet., 15, 74-77.
-
(1997)
Nature 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
-
19
-
-
17344362235
-
Mutation analysis of UBE3A in Angelman-syndrome patients
-
Malzac, P., Webber, H., Moncla, A., Graham, J.M., Kukolich, M., Williams, C., Pagon, R.A., Ramsdell, L.A., Kishino, T. and Wagstaff, J. (1998) Mutation analysis of UBE3A in Angelman-syndrome patients. Am. J. Hum. Genet., 62, 1353-1360.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 1353-1360
-
-
Malzac, P.1
Webber, H.2
Moncla, A.3
Graham, J.M.4
Kukolich, M.5
Williams, C.6
Pagon, R.A.7
Ramsdell, L.A.8
Kishino, T.9
Wagstaff, J.10
-
20
-
-
0028914364
-
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
-
Kotzot, D., Schmitt, S., Bemasconi, F., Robinson, W.P., Lurie, I.W., Ilyina, H., Mehes, K., Hamel, B.C.J., Otten, B.J., Hergersberg, M., Werder, E., Schoenle, E. and Schinzel, A. (1995) Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum. Mol. Genet., 4, 583-587.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 583-587
-
-
Kotzot, D.1
Schmitt, S.2
Bemasconi, F.3
Robinson, W.P.4
Lurie, I.W.5
Ilyina, H.6
Mehes, K.7
Hamel, B.C.J.8
Otten, B.J.9
Hergersberg, M.10
Werder, E.11
Schoenle, E.12
Schinzel, A.13
-
21
-
-
0031036341
-
Maternal uniparental disomy 7 in Silver-Russell syndrome
-
Preece, M.A., Price, S.M., Davies, V., Clough, L., Stanier, P., Trembath, R.C. and Moore, G.E. (1997) Maternal uniparental disomy 7 in Silver-Russell syndrome. J. Med. Genet., 34, 6-9.
-
(1997)
J. Med. Genet.
, vol.34
, pp. 6-9
-
-
Preece, M.A.1
Price, S.M.2
Davies, V.3
Clough, L.4
Stanier, P.5
Trembath, R.C.6
Moore, G.E.7
-
22
-
-
0030930299
-
Molecular studies in 37 Silver-Russell-syndrome patients - Frequency and etiology of uniparental disomy
-
Eggermann, T., Wollmann, H.A., Kuner, R., Eggermann, K., Enders, H., Kaiser, P. and Ranke, M.B. (1997) Molecular studies in 37 Silver-Russell-syndrome patients - frequency and etiology of uniparental disomy. Hum. Genet., 100, 415-419.
-
(1997)
Hum. Genet.
, vol.100
, pp. 415-419
-
-
Eggermann, T.1
Wollmann, H.A.2
Kuner, R.3
Eggermann, K.4
Enders, H.5
Kaiser, P.6
Ranke, M.B.7
-
23
-
-
0028111681
-
Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea
-
Höglund, P., Holmberg, C., de la Chapelle, A. and Kere, J. (1994) Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am. J. Hum. Genet., 55, 747-752.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 747-752
-
-
Höglund, P.1
Holmberg, C.2
De La Chapelle, A.3
Kere, J.4
-
24
-
-
0031778075
-
Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia
-
Pan, Y., McCaskill, C.D., Thompson, K.H., Hicks, J., Casey, B., Shaffer, L.G. and Craigen, W.J. (1998) Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. Am. J. Hum. Genet., 62, 1551-1555.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 1551-1555
-
-
Pan, Y.1
McCaskill, C.D.2
Thompson, K.H.3
Hicks, J.4
Casey, B.5
Shaffer, L.G.6
Craigen, W.J.7
-
25
-
-
0032958525
-
47,XX,UPD(7)mat,+r(7)pat/46G,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): Possible exclusion of the putative SRS gene from a 7p13-q11 region
-
Miyoshi, O., Kondoh, T., Taneda, H., Otsuka, K., Matsumoto, T. and Niikawa, N. (1999) 47,XX,UPD(7)mat,+r(7)pat/46G,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region. J. Med. Genet., 36, 326-329.
-
(1999)
J. Med. Genet.
, vol.36
, pp. 326-329
-
-
Miyoshi, O.1
Kondoh, T.2
Taneda, H.3
Otsuka, K.4
Matsumoto, T.5
Niikawa, N.6
-
26
-
-
0031172451
-
Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses
-
Riesewijk, A.M., Hu, L., Schulz, U., Tariverdian, G., Hoglund, P., Kere, J., Ropers, H.H. and Kalscheuer, V.M. (1997) Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses. Genomics, 42, 236-244.
-
(1997)
Genomics
, vol.42
, pp. 236-244
-
-
Riesewijk, A.M.1
Hu, L.2
Schulz, U.3
Tariverdian, G.4
Hoglund, P.5
Kere, J.6
Ropers, H.H.7
Kalscheuer, V.M.8
-
27
-
-
0030947270
-
Human PEG1/MEST, an imprinted gene on chromosome 7
-
Kobayashi, S., Kohda, T., Miyoshi, N., Kuroiwa, Y., Aisaka, K., Tsutsumi, O., Kaneko-Ishino, T. and Ishino, F. (1997) Human PEG1/MEST, an imprinted gene on chromosome 7. Hum. Mol. Genet., 6, 781-786.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 781-786
-
-
Kobayashi, S.1
Kohda, T.2
Miyoshi, N.3
Kuroiwa, Y.4
Aisaka, K.5
Tsutsumi, O.6
Kaneko-Ishino, T.7
Ishino, F.8
-
28
-
-
0032618306
-
Imprinted genes and regions in mouse and human
-
Ohlsson, R. (ed.), Springer Verlag, New York, NY
-
Beechey, C.V. (1999) Imprinted genes and regions in mouse and human. In Ohlsson, R. (ed.), Genomic Imprinting: An Interdisciplinary Approach. Results and Problems in Cell Differentiation. Springer Verlag, New York, NY, pp. 303-323.
-
(1999)
Genomic Imprinting: An Interdisciplinary Approach. Results and Problems in Cell Differentiation
, pp. 303-323
-
-
Beechey, C.V.1
-
29
-
-
0031687985
-
Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest
-
Lefebvre, L., Viville, S., Barton, S.C., Ishino, F., Keverne, E.B. and Surani, M.A. (1998) Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest. Nature Genet., 20, 163-169.
-
(1998)
Nature Genet.
, vol.20
, pp. 163-169
-
-
Lefebvre, L.1
Viville, S.2
Barton, S.C.3
Ishino, F.4
Keverne, E.B.5
Surani, M.A.6
-
30
-
-
0031969877
-
Evidence against a major role of PEG1/MEST in Silver-Russell-syndrome
-
Riesewijk, A.M., Blagitko, N., Schinzel, A.A., Hu, L.D., Schulz, U., Hamel, B.C.J., Ropers, H.H. and Kalscheuer, V.M. (1998) Evidence against a major role of PEG1/MEST in Silver-Russell-syndrome. Eur. J. Hum. Genet., 6, 114-120.
-
(1998)
Eur. J. Hum. Genet.
, vol.6
, pp. 114-120
-
-
Riesewijk, A.M.1
Blagitko, N.2
Schinzel, A.A.3
Hu, L.D.4
Schulz, U.5
Hamel, B.C.J.6
Ropers, H.H.7
Kalscheuer, V.M.8
-
31
-
-
0026480658
-
Gamma-COP, a coat subunit of non-clathrin-coated vesicles with homology to Sec21p
-
Stenbeck, G., Schreiner, R., Herrmann, D., Auerbach, S., Lottspeich, F., Rothman, J.E. and Wieland, F.T. (1992) Gamma-COP, a coat subunit of non-clathrin-coated vesicles with homology to Sec21p. FEBS Lett., 314, 195-198
-
(1992)
FEBS Lett.
, vol.314
, pp. 195-198
-
-
Stenbeck, G.1
Schreiner, R.2
Herrmann, D.3
Auerbach, S.4
Lottspeich, F.5
Rothman, J.E.6
Wieland, F.T.7
-
32
-
-
17644446731
-
COPI in ER/Golgi and intra-Golgi transport: Do yeast COPI mutants point the way?
-
Gaynor, E.C., Graham, T.R. and Emr, S.D. (1998) COPI in ER/Golgi and intra-Golgi transport: do yeast COPI mutants point the way? Biochim. Biophys. Acta, 1404, 33-51.
-
(1998)
Biochim. Biophys. Acta
, vol.1404
, pp. 33-51
-
-
Gaynor, E.C.1
Graham, T.R.2
Emr, S.D.3
-
33
-
-
0032516893
-
Regulation of membrane traffic in animal cells by COPI
-
Lowe, M. and Kreis, T.E. (1998) Regulation of membrane traffic in animal cells by COPI. Biochim. Biophys. Acta, 1404, 53-66.
-
(1998)
Biochim. Biophys. Acta
, vol.1404
, pp. 53-66
-
-
Lowe, M.1
Kreis, T.E.2
-
34
-
-
0032516932
-
Protein sorting in the Golgi complex
-
Füllekrug, J. and Nilsson, T. (1998) Protein sorting in the Golgi complex. Biochim. Biophys. Acta, 1404, 77-84.
-
(1998)
Biochim. Biophys. Acta
, vol.1404
, pp. 77-84
-
-
Füllekrug, J.1
Nilsson, T.2
-
35
-
-
0030771126
-
The PROSITE database, its status in 1997
-
Bairoch, A., Bucher, P. and Hofman, K. (1997) The PROSITE database, its status in 1997. Nucleic Acids Res., 25, 217-221.
-
(1997)
Nucleic Acids Res.
, vol.25
, pp. 217-221
-
-
Bairoch, A.1
Bucher, P.2
Hofman, K.3
-
36
-
-
0029874257
-
Nonclathrin coat protein gamma, a subunit of coatomer, binds to the cytoplasmic dilysine motif of membrane proteins of the early secretory pathway
-
Harter, C., Pavel, J., Coccia, F., Draken, E., Wegehingel, S., Tschochner, H. and Wieland, F. (1996) Nonclathrin coat protein gamma, a subunit of coatomer, binds to the cytoplasmic dilysine motif of membrane proteins of the early secretory pathway. Proc. Natl Acad. Sci. USA, 93, 1902-1906.
-
(1996)
Proc. Natl Acad. Sci. USA
, vol.93
, pp. 1902-1906
-
-
Harter, C.1
Pavel, J.2
Coccia, F.3
Draken, E.4
Wegehingel, S.5
Tschochner, H.6
Wieland, F.7
-
37
-
-
0032578522
-
A single binding site for dilysine retrieval motifs and p23 within the gamma subunit of coatomer
-
Harter, C. and Wieland, F.T. (1998) A single binding site for dilysine retrieval motifs and p23 within the gamma subunit of coatomer. Proc. Natl Acad. Sci. USA, 95, 11649-11654.
-
(1998)
Proc. Natl Acad. Sci. USA
, vol.95
, pp. 11649-11654
-
-
Harter, C.1
Wieland, F.T.2
-
38
-
-
0033574003
-
Receptor-induced polymerization of coatomer
-
Reinhard, C., Harter, C., Bremser, M., Brugger, B., Sohn, K., Helms, J.B. and Wieland, F. (1999) Receptor-induced polymerization of coatomer. Proc. Natl Acad. Sci. USA, 96, 1224-1228.
-
(1999)
Proc. Natl Acad. Sci. USA
, vol.96
, pp. 1224-1228
-
-
Reinhard, C.1
Harter, C.2
Bremser, M.3
Brugger, B.4
Sohn, K.5
Helms, J.B.6
Wieland, F.7
-
39
-
-
0345474527
-
ζ2-COP defines a second form of the COPI complex
-
abstract
-
Whitney, J.A. and Kreis, T.E. (1998) ζ2-COP defines a second form of the COPI complex. Mol. Cell, 9, 339 (abstract).
-
(1998)
Mol. Cell
, vol.9
, pp. 339
-
-
Whitney, J.A.1
Kreis, T.E.2
-
40
-
-
0027439329
-
A novel mesoderm-specific cDNA isolated from a mouse embryonal carcinoma cell line
-
Sado, T., Nakajima, N., Tada, M. and Takagi, N. (1993) A novel mesoderm-specific cDNA isolated from a mouse embryonal carcinoma cell line. Dev. Growth Differ., 35, 551-560.
-
(1993)
Dev. Growth Differ.
, vol.35
, pp. 551-560
-
-
Sado, T.1
Nakajima, N.2
Tada, M.3
Takagi, N.4
|