-
1
-
-
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. & Lalande, M. Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 342, 281-285 (1989).
-
(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
-
2
-
-
0026353331
-
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients
-
Robinson, W.P. et al. Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am. J. Hum. Genet. 49, 1219-1234 (1991).
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 1219-1234
-
-
Robinson, W.P.1
-
3
-
-
0026647855
-
Molecular diagnosis of Prader-Willi syndrome
-
Mascari, M.J. et al. Molecular diagnosis of Prader-Willi syndrome. N. Engl. J. Med. 326, 1599-1607 (1992).
-
(1992)
N. Engl. J. Med.
, vol.326
, pp. 1599-1607
-
-
Mascari, M.J.1
-
4
-
-
0027476242
-
Prader-Willi syndrome: Consensus diagnostic criteria
-
Holm, V., Cassidy, S., Butler, M., Hanchett, J. & Greenberg, F. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 91, 398-402 (1993).
-
(1993)
Pediatrics
, vol.91
, pp. 398-402
-
-
Holm, V.1
Cassidy, S.2
Butler, M.3
Hanchett, J.4
Greenberg, F.5
-
5
-
-
0030458551
-
Parental imprinting and human disease
-
Lalande, M. Parental imprinting and human disease. Annu. Rev. Genet. 30, 173-195 (1997).
-
(1997)
Annu. Rev. Genet.
, vol.30
, pp. 173-195
-
-
Lalande, M.1
-
6
-
-
0029778098
-
Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi region
-
Ning, Y. et al. Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi region. Genome Res. 6, 742-746 (1996).
-
(1996)
Genome Res.
, vol.6
, pp. 742-746
-
-
Ning, Y.1
-
7
-
-
0025871554
-
A novel brain-specific mRNA encoding nuclear protein (Necdin) expressed in neurally differentiated embryonal carcinoma cells
-
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. Com. 178, 291-296 (1991).
-
(1991)
Biochem. Biophys. Res. Com.
, vol.178
, pp. 291-296
-
-
Maruyama, K.1
Usami, M.2
Aizawa, T.3
Yoshikawa, K.4
-
8
-
-
0031019699
-
Isolation and regional mapping of cDNAs expressed during early human development
-
Jay, P. et al. Isolation and regional mapping of cDNAs expressed during early human development. Genomics 39, 104-108 (1997).
-
(1997)
Genomics
, vol.39
, pp. 104-108
-
-
Jay, P.1
-
9
-
-
0027787530
-
A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene
-
Mutirangura, A. et al. 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).
-
(1993)
Genomics
, vol.18
, pp. 546-552
-
-
Mutirangura, A.1
-
10
-
-
0344639447
-
Parent-of-origin-specific DNA methylation and imprinting mutations on human chromosome 15
-
eds Ohlsson, R. et al. Cambridge University Press, Cambridge, UK
-
Horsthemke, B., Dittrich, B. & Buiting, K. Parent-of-origin-specific DNA methylation and imprinting mutations on human chromosome 15. in Genomic Imprinting: Causes and Consequences (eds Ohlsson, R. et al.) 295-308 (Cambridge University Press, Cambridge, UK, 1995).
-
(1995)
Genomic Imprinting: Causes and Consequences
, pp. 295-308
-
-
Horsthemke, B.1
Dittrich, B.2
Buiting, K.3
-
11
-
-
0028937174
-
Domain organization of allele-specific replication within the GABRB gene cluster requires a biparental 15q11-13 contribution
-
LaSalle, J. & Lalande, M. Domain organization of allele-specific replication within the GABRB gene cluster requires a biparental 15q11-13 contribution. Nature Genet. 9, 386-395 (1995).
-
(1995)
Nature Genet.
, vol.9
, pp. 386-395
-
-
LaSalle, J.1
Lalande, M.2
-
12
-
-
0026048450
-
The use of synthetic tandem repeats to isolate new VNTR loci: Cloning of a human hypermutable sequence
-
Vergnaud, G. et al. The use of synthetic tandem repeats to isolate new VNTR loci: cloning of a human hypermutable sequence. Genomics 11, 135-144 (1991).
-
(1991)
Genomics
, vol.11
, pp. 135-144
-
-
Vergnaud, G.1
-
13
-
-
0026729978
-
Expression of NECDIN, an embryonal carcinoma-derived nuclear protein, in developing mouse brain
-
Aizawa, T., Maruyama, K., Kondo, H. & Yoshikawa, K. Expression of NECDIN, an embryonal carcinoma-derived nuclear protein, in developing mouse brain. Dev. Brain Res. 68, 265-274 (1992).
-
(1992)
Dev. Brain Res.
, vol.68
, pp. 265-274
-
-
Aizawa, T.1
Maruyama, K.2
Kondo, H.3
Yoshikawa, K.4
-
14
-
-
0029984701
-
Biochemical characterization of mouse brain necdin
-
Maruyama, E. Biochemical characterization of mouse brain necdin. Biochem. J. 314, 895-901 (1996).
-
(1996)
Biochem. J.
, vol.314
, pp. 895-901
-
-
Maruyama, E.1
-
15
-
-
0030063033
-
Structure and expression of the mouse Necdin gene
-
Uetsuki, T., Tagaki, K., Sugiura, H. & Yoshikawa, K. Structure and expression of the mouse Necdin gene. J. Biol. Chem. 12, 918-924 (1996).
-
(1996)
J. Biol. Chem.
, vol.12
, pp. 918-924
-
-
Uetsuki, T.1
Tagaki, K.2
Sugiura, H.3
Yoshikawa, K.4
-
16
-
-
0029100944
-
Arrest of cell growth by necdin, a nuclear protein expressed in postmitotic neurons
-
Hayashi, Y., Matsuyama, K., Tagaki, K., Sugiura, H. & Yoshikawa, K. Arrest of cell growth by necdin, a nuclear protein expressed in postmitotic neurons. Biochem. Biophys. Res. Com. 213, 317-324 (1995).
-
(1995)
Biochem. Biophys. Res. Com.
, vol.213
, pp. 317-324
-
-
Hayashi, Y.1
Matsuyama, K.2
Tagaki, K.3
Sugiura, H.4
Yoshikawa, K.5
-
17
-
-
85086684518
-
The mouse Necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region synteny to the Prader-Willi syndrome region
-
in the press
-
Watrin, F. et al. The mouse Necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region synteny to the Prader-Willi syndrome region. Eur. J. Hum. Genet. (in the press).
-
Eur. J. Hum. Genet.
-
-
Watrin, F.1
-
18
-
-
0030052505
-
Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene
-
Glenn, C.C. et al. Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. Am. J. Hum. Genet. 58, 335-346 (1996).
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 335-346
-
-
Glenn, C.C.1
-
19
-
-
0029985822
-
Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
-
Sun, Y. et al. Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient. Hum. Mol. Genet. 5, 517-524 (1996).
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 517-524
-
-
Sun, Y.1
-
20
-
-
0029918828
-
Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint
-
Schulze, A. et al. Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Nature Genet 12, 452-454 (1996).
-
(1996)
Nature Genet
, vol.12
, pp. 452-454
-
-
Schulze, A.1
-
21
-
-
0028468551
-
Mice lacking Snrpn expression show normal regulation of neuronal alternative splicing events
-
Huntriss, D.J., Barr, J.A., Horn, D.A., Williams, D.G. & Latchman, D.S. Mice lacking Snrpn expression show normal regulation of neuronal alternative splicing events. Mol. Biol. Rep. 20, 19-25 (1994).
-
(1994)
Mol. Biol. Rep.
, vol.20
, pp. 19-25
-
-
Huntriss, D.J.1
Barr, J.A.2
Horn, D.A.3
Williams, D.G.4
Latchman, D.S.5
-
22
-
-
0026712218
-
Further evidence for dominant inheritance at the chromosome 15q11-q13 locus in familial Angelman syndrome
-
Clayton-Smith, J. Further evidence for dominant inheritance at the chromosome 15q11-q13 locus in familial Angelman syndrome. Am. J. Med. Genet. 44, 256-260 (1992).
-
(1992)
Am. J. Med. Genet.
, vol.44
, pp. 256-260
-
-
Clayton-Smith, J.1
-
23
-
-
0026865322
-
Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15
-
Mutirangura, A., Kuwano, A., Ledbetter, S.A., Chinault, A.C. & Ledbetter, D.H. Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15. Hum. Mol. Genet. 1, 139 (1992).
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 139
-
-
Mutirangura, A.1
Kuwano, A.2
Ledbetter, S.A.3
Chinault, A.C.4
Ledbetter, D.H.5
-
25
-
-
0031228039
-
The Angelman syndrome candidate gene, UBE3AIE6-AP, is imprinted in brain
-
Rougeulie, C., Glatt, H. & Lalande, M. The Angelman syndrome candidate gene, UBE3AIE6-AP, is imprinted in brain. Nature Genet. 17, 14-15 (1997).
-
(1997)
Nature Genet.
, vol.17
, pp. 14-15
-
-
Rougeulie, C.1
Glatt, H.2
Lalande, M.3
-
26
-
-
0026949686
-
A YAC contig in Xp21 containning the adrenal hypoplasia congenita and glycerol kinase deficiency genes
-
Walker, A.P. et al. A YAC contig in Xp21 containning the adrenal hypoplasia congenita and glycerol kinase deficiency genes. Hum. Mol. Genet. 1, 579-585 (1992).
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 579-585
-
-
Walker, A.P.1
-
28
-
-
0022446922
-
Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization
-
Pinkel, D., Staume, T. & Gray, J.W. Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization. Proc. Natl. Acad. Sci. USA. 83, 2934-2938 (1986).
-
(1986)
Proc. Natl. Acad. Sci. USA.
, vol.83
, pp. 2934-2938
-
-
Pinkel, D.1
Staume, T.2
Gray, J.W.3
-
29
-
-
0029794936
-
Characterization of the human jumonji gene
-
Bergé-Lefranc, J.-L. et al. Characterization of the human jumonji gene. Hum. Mol. Genet. 5, 1637-1641 (1996).
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1637-1641
-
-
Bergé-Lefranc, J.-L.1
-
30
-
-
16944367180
-
Increase in mRNAs encoding neonatal II and III sodium channel alpha isoforms during kainate-induced seizures in adult rat hippocampus
-
Gastaldi, M. et al. Increase in mRNAs encoding neonatal II and III sodium channel alpha isoforms during kainate-induced seizures in adult rat hippocampus. Mol. Brain Res. 192, 222-231 (1997).
-
(1997)
Mol. Brain Res.
, vol.192
, pp. 222-231
-
-
Gastaldi, M.1
-
31
-
-
16044365355
-
Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations
-
Saitho, S. et al. 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).
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 7811-7815
-
-
Saitho, S.1
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