-
1
-
-
0026742127
-
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase
-
Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInness RR, Nussbaum RL (1992): The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 358:239-242.
-
(1992)
Nature
, vol.358
, pp. 239-242
-
-
Attree, O.1
Olivos, I.M.2
Okabe, I.3
Bailey, L.C.4
Nelson, D.L.5
Lewis, R.A.6
McInness, R.R.7
Nussbaum, R.L.8
-
2
-
-
0006725810
-
The oculocerebrorenal syndrome of Lowe (Lowe syndrome)
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds): New York: McGraw-Hill
-
Charnas L, Nussbaum RL (1995): The oculocerebrorenal syndrome of Lowe (Lowe syndrome). In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): "The Metabolic and Molecular Bases of Inherited Disease." 7th ed. New York: McGraw-Hill, pp 3705-3716.
-
(1995)
"The Metabolic and Molecular Bases of Inherited Disease." 7th Ed.
, pp. 3705-3716
-
-
Charnas, L.1
Nussbaum, R.L.2
-
3
-
-
0025876473
-
Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function
-
Charnas LR, Bernardini I, Rader D, Hoeg JM, Gahl WA (1991): Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. N Engl J Med 324:1318-1325.
-
(1991)
N Engl J Med
, vol.324
, pp. 1318-1325
-
-
Charnas, L.R.1
Bernardini, I.2
Rader, D.3
Hoeg, J.M.4
Gahl, W.A.5
-
4
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroforn extraction
-
Chomczynski P, Sacchi N (1987): Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroforn extraction. Anal Biochem 162:156-159.
-
(1987)
Anal Biochem
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
5
-
-
0017044254
-
Lowe's syndrome: Identification of carriers by lens examination
-
Gardner RJM, Brown N (1976): Lowe's syndrome: Identification of carriers by lens examination. J Med Genet 13:449-454.
-
(1976)
J Med Genet
, vol.13
, pp. 449-454
-
-
Gardner, R.J.M.1
Brown, N.2
-
6
-
-
0022508828
-
A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome
-
Hodgson SV, Heckmatt JZ, Hughes E, Crolla JA, Dubowitz V, Bobrow M (1986): A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome. Am J Med Genet 23:837-847.
-
(1986)
Am J Med Genet
, vol.23
, pp. 837-847
-
-
Hodgson, S.V.1
Heckmatt, J.Z.2
Hughes, E.3
Crolla, J.A.4
Dubowitz, V.5
Bobrow, M.6
-
7
-
-
0028961785
-
Properties of type II inositol polyphosphate 5-phosphatase
-
Jefferson AB, Majerus PW (1995): Properties of type II inositol polyphosphate 5-phosphatase. J Biol Chem 270:9370-9377.
-
(1995)
J Biol Chem
, vol.270
, pp. 9370-9377
-
-
Jefferson, A.B.1
Majerus, P.W.2
-
8
-
-
0029982454
-
Mutation of the conserved domains of two inositol polyphosphate 5-phosphatases
-
Jefferson AB, Majerus PW (1996): Mutation of the conserved domains of two inositol polyphosphate 5-phosphatases. Biochemistry 35:7890-7894.
-
(1996)
Biochemistry
, vol.35
, pp. 7890-7894
-
-
Jefferson, A.B.1
Majerus, P.W.2
-
9
-
-
0026794668
-
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
-
Krawczak M, Reiss J, Cooper DN (1992): The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences. Hum Genet 90:41-54.
-
(1992)
Hum Genet
, vol.90
, pp. 41-54
-
-
Krawczak, M.1
Reiss, J.2
Cooper, D.N.3
-
10
-
-
0027457372
-
Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe
-
Leahey AM, Charnas LR, Nussbaum RL (1993): Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum Mol Genet 2:461-463.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 461-463
-
-
Leahey, A.M.1
Charnas, L.R.2
Nussbaum, R.L.3
-
11
-
-
0030971762
-
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome
-
Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, Nussbaum RL (1997): Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet 60:1384-1388.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1384-1388
-
-
Lin, T.1
Orrison, B.M.2
Leahey, A.M.3
Suchy, S.F.4
Bernard, D.J.5
Lewis, R.A.6
Nussbaum, R.L.7
-
12
-
-
0000623605
-
Organic-aciduria, decreased renal ammonia production, hydrophathalmos, and mental retardation
-
Lowe CU, Terrey M, MacLachlan EA (1952): Organic-aciduria, decreased renal ammonia production, hydrophathalmos, and mental retardation. Am J Dis Child 83:164-184.
-
(1952)
Am J Dis Child
, vol.83
, pp. 164-184
-
-
Lowe, C.U.1
Terrey, M.2
MacLachlan, E.A.3
-
13
-
-
0025982062
-
Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products
-
Marchuk D, Drumm M, Saulino A, Collins FS (1991): Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products. Nucleic Acids Res 19:1154.
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 1154
-
-
Marchuk, D.1
Drumm, M.2
Saulino, A.3
Collins, F.S.4
-
14
-
-
0014466406
-
Oculocerebrorenal syndrome in a child with a normal urinary acidification and a defect in bicarbonate reabsorption
-
Matsuda I, Takeda T, Sugai M, Matsuura N (1969): Oculocerebrorenal syndrome in a child with a normal urinary acidification and a defect in bicarbonate reabsorption. Am J Dis Child 117:205-212.
-
(1969)
Am J Dis Child
, vol.117
, pp. 205-212
-
-
Matsuda, I.1
Takeda, T.2
Sugai, M.3
Matsuura, N.4
-
15
-
-
2642622186
-
A presynaptic inositol-5-phosphatase
-
McPherson PS, Garcia EP, Slepnev VI, David C, Zhang X, Grabs D, Sossin WS, Bauerfeind R, Nemoto Y, Camilli PD (1996): A presynaptic inositol-5-phosphatase. Nature 379:353-357.
-
(1996)
Nature
, vol.379
, pp. 353-357
-
-
McPherson, P.S.1
Garcia, E.P.2
Slepnev, V.I.3
David, C.4
Zhang, X.5
Grabs, D.6
Sossin, W.S.7
Bauerfeind, R.8
Nemoto, Y.9
Camilli, P.D.10
-
16
-
-
0026001405
-
Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: Mapping of the X chromosome breakpoint
-
Mueller OT, Hartsfield JK Jr, Gallardo LA, Essig Y-P, Miller KL, Papenhausen PR, Tedesco TA (1991): Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: Mapping of the X chromosome breakpoint. Am J Hum Genet 49:804-810.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 804-810
-
-
Mueller, O.T.1
Hartsfield Jr., J.K.2
Gallardo, L.A.3
Essig, Y.-P.4
Miller, K.L.5
Papenhausen, P.R.6
Tedesco, T.A.7
-
17
-
-
0031037076
-
Physical mapping and genomic structure of the Lowe syndrome gene OCRL1
-
Nussbaum RL, Orrison BM, Jänne PA, Charnas L, Cinault AC (1997): Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet 99:145-150.
-
(1997)
Hum Genet
, vol.99
, pp. 145-150
-
-
Nussbaum, R.L.1
Orrison, B.M.2
Jänne, P.A.3
Charnas, L.4
Cinault, A.C.5
-
18
-
-
0029120280
-
The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex
-
Olivos-Glander IM, Jänne PA, Nussbaum RL (1995): The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. Am J Hum Genet 57:817-823.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 817-823
-
-
Olivos-Glander, I.M.1
Jänne, P.A.2
Nussbaum, R.L.3
-
19
-
-
0023923491
-
Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment
-
Reilly DS, Lewis RA, Ledbetter DH, Nussbaum RL (1988): Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. Am J Hum Genet 42:748-755.
-
(1988)
Am J Hum Genet
, vol.42
, pp. 748-755
-
-
Reilly, D.S.1
Lewis, R.A.2
Ledbetter, D.H.3
Nussbaum, R.L.4
-
20
-
-
0025143158
-
Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome
-
Reilly DS, Lewis RA, Nussbaum RL (1990): Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome. Genomics 8:62-70.
-
(1990)
Genomics
, vol.8
, pp. 62-70
-
-
Reilly, D.S.1
Lewis, R.A.2
Nussbaum, R.L.3
-
22
-
-
0023651307
-
RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
-
Shapiro MB, Senapathy P (1987): RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155-7174.
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 7155-7174
-
-
Shapiro, M.B.1
Senapathy, P.2
-
23
-
-
0023089666
-
Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms
-
Silver DN, Lewis RA, Nussbaum RL (1987): Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. J Clin Invest 79:282-285.
-
(1987)
J Clin Invest
, vol.79
, pp. 282-285
-
-
Silver, D.N.1
Lewis, R.A.2
Nussbaum, R.L.3
-
24
-
-
0028880052
-
Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus
-
Suchy SF, Olivos-Glander IM, Nussabaum RL (1995): Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus. Hum Mol Genet 4:2245-2250.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2245-2250
-
-
Suchy, S.F.1
Olivos-Glander, I.M.2
Nussabaum, R.L.3
-
25
-
-
0024586810
-
Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis
-
Wadelius C, Fagerholm P, Pettersson U, Anneren G (1989): Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis. Am J Hum Genet 44:241-247.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 241-247
-
-
Wadelius, C.1
Fagerholm, P.2
Pettersson, U.3
Anneren, G.4
-
26
-
-
0029060795
-
The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase
-
Zhang X, Jefferson AB, Auethavekiat V, Majerus PW (1995): The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. Proc Natl Acad Sci USA 92:4853-4856.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 4853-4856
-
-
Zhang, X.1
Jefferson, A.B.2
Auethavekiat, V.3
Majerus, P.W.4
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