-
1
-
-
0025292712
-
Identification of mutations in the COL4A5 collagen gene in Alport syndrome
-
Barker, D. F., Hostikka, S. L., Zhou, J., Chow, L. T., Oliphant, A. R., Gerken, S. C., Gregory, M. C., Skolnick, M. H., Atkin, C. L., and Tryggvason, K. (1990). Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248: 1224-1227.
-
(1990)
Science
, vol.248
, pp. 1224-1227
-
-
Barker, D.F.1
Hostikka, S.L.2
Zhou, J.3
Chow, L.T.4
Oliphant, A.R.5
Gerken, S.C.6
Gregory, M.C.7
Skolnick, M.H.8
Atkin, C.L.9
Tryggvason, K.10
-
2
-
-
0030852497
-
Gene for non-specific X-linked mental retardation (MRX47) is located onXq22.3-24
-
Des Portes, V., Soufir, N., Carrié, A., Billuart, P., Bienvenu, T., Vinet, M. C., Beldjord, C., Ponsot, G., Kahn, A., Boue, J., and Chelly, J. (1997). Gene for non-specific X-linked mental retardation (MRX47) is located onXq22.3-24. Am. J. Med. Genet. 72: 324-328.
-
(1997)
Am. J. Med. Genet.
, vol.72
, pp. 324-328
-
-
Des Portes, V.1
Soufir, N.2
Carrié, A.3
Billuart, P.4
Bienvenu, T.5
Vinet, M.C.6
Beldjord, C.7
Ponsot, G.8
Kahn, A.9
Boue, J.10
Chelly, J.11
-
3
-
-
0030043924
-
Localization of a non-specific X-linked mental retardation gene, MRX23, to Xq23-24
-
Gregg, R. G., Palmer, C., Kirkpatrick, S., and Simantel, A. (1996). Localization of a non-specific X-linked mental retardation gene, MRX23, to Xq23-24. Hum. Mol. Genet. 5: 411-414.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 411-414
-
-
Gregg, R.G.1
Palmer, C.2
Kirkpatrick, S.3
Simantel, A.4
-
4
-
-
0025938038
-
Identification and characterization of the familial adenomatous polyposis coli gene
-
Groden, J., Thliveris, A., Samowitz, W., Carlson, M., Gelbert, L., Albertsen, H., Joslyn, G., Stevens, J., Spirio, L., Robertson, M., Sargeant, L., Krapcho, K., Wolff, E., Burt, R., Hughes, J. P., Warrington, J., McPherson, J., Wasmuth, J., Le Paslier, D., Abderrahim, H., Cohen, D., Leppert, M., and White, R. (1991). Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66: 589-600.
-
(1991)
Cell
, vol.66
, pp. 589-600
-
-
Groden, J.1
Thliveris, A.2
Samowitz, W.3
Carlson, M.4
Gelbert, L.5
Albertsen, H.6
Joslyn, G.7
Stevens, J.8
Spirio, L.9
Robertson, M.10
Sargeant, L.11
Krapcho, K.12
Wolff, E.13
Burt, R.14
Hughes, J.P.15
Warrington, J.16
McPherson, J.17
Wasmuth, J.18
Le Paslier, D.19
Abderrahim, H.20
Cohen, D.21
Leppert, M.22
White, R.23
more..
-
5
-
-
0030044978
-
Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35)
-
Gu, X. X., Decorte, R., Marynen, P., Fryns, J.-P., Cassiman, J.-J., and Raemaekers, P. (1996). Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35). J. Med. Genet. 33: 52-55.
-
(1996)
J. Med. Genet.
, vol.33
, pp. 52-55
-
-
Gu, X.X.1
Decorte, R.2
Marynen, P.3
Fryns, J.-P.4
Cassiman, J.-J.5
Raemaekers, P.6
-
6
-
-
0025637605
-
Molecular cloning of a second subunit of the receptor for human granulocyte-macrophage colony-stimulating factor (GM-CSF): Reconstituction of a high-affinity GM-CSF receptor
-
Hayashida, K., Kitamura, T., Gorman, D. M., Ken-Ichi, A., Yokota, T., and Miyajima, A. (1990). Molecular cloning of a second subunit of the receptor for human granulocyte-macrophage colony-stimulating factor (GM-CSF): Reconstituction of a high-affinity GM-CSF receptor. Proc. Natl. Acad. Sci. USA 87: 9655-9659.
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 9655-9659
-
-
Hayashida, K.1
Kitamura, T.2
Gorman, D.M.3
Ken-Ichi, A.4
Yokota, T.5
Miyajima, A.6
-
7
-
-
0031446109
-
Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region
-
Heidet, L., Cohen-Solal, L., Boye, E., Thorner, P., Kemper, M. J., David, A., Larget Piet, L., Zhou, J., Flinter, F., Zhang, X., Gubler, M. C., and Antignac, C. (1997). Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region. Cytogenet. Cell. Genet. 78: 240-246.
-
(1997)
Cytogenet. Cell. Genet.
, vol.78
, pp. 240-246
-
-
Heidet, L.1
Cohen-Solal, L.2
Boye, E.3
Thorner, P.4
Kemper, M.J.5
David, A.6
Larget Piet, L.7
Zhou, J.8
Flinter, F.9
Zhang, X.10
Gubler, M.C.11
Antignac, C.12
-
8
-
-
0028981590
-
Deletions of both a5(IV and a6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours
-
Heidet, L., Dahan, K., Zhou, J., Xu, Z., Cochat, P., Gould, J. D. M., Leppig, K. A., Proesmans, W., Guyot, C., Roussel, B., Tryggvason, K., Grunfeld, J.-P., Gubler, M. C., and Antignac, C. (1995). Deletions of both a5(IV) and a6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours. Hum. Mol. Genet. 4: 99-108.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 99-108
-
-
Heidet, L.1
Dahan, K.2
Zhou, J.3
Xu, Z.4
Cochat, P.5
Gould, J.D.M.6
Leppig, K.A.7
Proesmans, W.8
Guyot, C.9
Roussel, B.10
Tryggvason, K.11
Grunfeld, J.-P.12
Gubler, M.C.13
Antignac, C.14
-
9
-
-
17344373749
-
Alport syndrome, mental retardation, mid-face hypoplasia, and elliptocytosis: A new X-linked contiguous gene deletion syndrome
-
Jonsson, J., Renieri, A., Gallagher, P., Kashtan, C. E., Cherniske, E. M., Bruttini, M., Piccini, M., Vitelli, F., Ballabio, B., and Pober, B. R. (1998). Alport syndrome, mental retardation, mid-face hypoplasia, and elliptocytosis: A new X-linked contiguous gene deletion syndrome? J. Med. Genet. 35: 273-278.
-
(1998)
J. Med. Genet.
, vol.35
, pp. 273-278
-
-
Jonsson, J.1
Renieri, A.2
Gallagher, P.3
Kashtan, C.E.4
Cherniske, E.M.5
Bruttini, M.6
Piccini, M.7
Vitelli, F.8
Ballabio, B.9
Pober, B.R.10
-
10
-
-
0021770224
-
Compilation and analysis of sequences up-stream from the translational start site in eukaryotic mRNAs
-
Kozak, M. (1983). Compilation and analysis of sequences up-stream from the translational start site in eukaryotic mRNAs. Nucleic Acids Res. 12: 857-872.
-
(1983)
Nucleic Acids Res.
, vol.12
, pp. 857-872
-
-
Kozak, M.1
-
11
-
-
0029838880
-
Simplifying 5′ RACE in the hunt for full-length cDNAs
-
Lung, C. C., and Chan, E. K. L. (1996). Simplifying 5′ RACE in the hunt for full-length cDNAs. Trends Genet. 12: 389-391.
-
(1996)
Trends Genet.
, vol.12
, pp. 389-391
-
-
Lung, C.C.1
Chan, E.K.L.2
-
12
-
-
0032006885
-
FACL4, a new gene encoding long chain acyl-coA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis and mental retardation
-
Piccini, M., Vitelli, F., Bruttini, M., Pober, B., Jonsson, J. J., Villanova, M., Zollo, M., Borsani, G., Ballabio, A., and Renieri, A. (1998). FACL4, a new gene encoding long chain acyl-coA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis and mental retardation. Genomics 47: 350-358.
-
(1998)
Genomics
, vol.47
, pp. 350-358
-
-
Piccini, M.1
Vitelli, F.2
Bruttini, M.3
Pober, B.4
Jonsson, J.J.5
Villanova, M.6
Zollo, M.7
Borsani, G.8
Ballabio, A.9
Renieri, A.10
-
13
-
-
0032077533
-
Using neural networks for prediction of the subcellular location of protein
-
Reinhardt, A., and Hubbard, T. (1998). Using neural networks for prediction of the subcellular location of protein. Nucleic Acids Res. 26: 2230-2236.
-
(1998)
Nucleic Acids Res.
, vol.26
, pp. 2230-2236
-
-
Reinhardt, A.1
Hubbard, T.2
-
14
-
-
0028081474
-
Deletion spanning the 5′ ends of both the COL4A5 and the COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis
-
Renieri, A., Bassi, M. T., Galli, L., Zhou, J., Giani, M., De Marchi, M., and Ballabio, A. (1994). Deletion spanning the 5′ ends of both the COL4A5 and the COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis. Hum. Mutat. 4: 195-198.
-
(1994)
Hum. Mutat.
, vol.4
, pp. 195-198
-
-
Renieri, A.1
Bassi, M.T.2
Galli, L.3
Zhou, J.4
Giani, M.5
De Marchi, M.A.6
Ballabio, A.7
-
15
-
-
0029931071
-
X-linked Alport syndrome: An SSCP-based mutation survey over all 51 exons of the COL4A5 gene
-
Renieri, A., Bruttini, M., Galli, L., Zanelli, P., Neri, T., Rossetti, S., Turco, A., Heiskari, N., Zhou, J., Gusmano, R., Massella, L., Banfi, G., Scolari, F., Sessa, A., Rizzoni, G., Tryggvason, K., Pignatti, P. F., Savi, M., Ballabio, A., and De Marchi, M. (1996). X-linked Alport syndrome: An SSCP-based mutation survey over all 51 exons of the COL4A5 gene. Am. J. Hum. Genet. 58: 1192-1204.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 1192-1204
-
-
Renieri, A.1
Bruttini, M.2
Galli, L.3
Zanelli, P.4
Neri, T.5
Rossetti, S.6
Turco, A.7
Heiskari, N.8
Zhou, J.9
Gusmano, R.10
Massella, L.11
Banfi, G.12
Scolari, F.13
Sessa, A.14
Rizzoni, G.15
Tryggvason, K.16
Pignatti, P.F.17
Savi, M.18
Ballabio, A.19
De Marchi, M.20
more..
-
16
-
-
0028846234
-
Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome
-
Renieri, A., Galli, L., Grillo, A., Bruttini, M., Neri, T., Zanelli, P., Rizzoni, G., Massella, L., Sessa, A., Meroni, M., Peratoner, L., Riegler, P., Scolari, F., Mileti, M., Giani, M., Cossu, M., Savi, M., Ballabio, A., and De Marchi, M. (1995). Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome. Am. J. Med. Genet. 59: 380-385.
-
(1995)
Am. J. Med. Genet.
, vol.59
, pp. 380-385
-
-
Renieri, A.1
Galli, L.2
Grillo, A.3
Bruttini, M.4
Neri, T.5
Zanelli, P.6
Rizzoni, G.7
Massella, L.8
Sessa, A.9
Meroni, M.10
Peratoner, L.11
Riegler, P.12
Scolari, F.13
Mileti, M.14
Giani, M.15
Cossu, M.16
Savi, M.17
Ballabio, A.18
De Marchi, M.19
|