-
1
-
-
0018933975
-
The structure and evolution of the human beta-globin gene family
-
Efstratiadis, A., Posakony, J.W., Maniatis, T., Lawn, R.M., O'Connell, C., Spritz, R.A., DeRiel, J.K., Forget, B.G., Weissman, S.M., Slightom, J.L., Blechl, A.E., Smithies, O., Baralle, F.E., Shoulders, C.C. and Proudfoot, N.J. (1980) The structure and evolution of the human beta-globin gene family. Cell, 21, 653-668.
-
(1980)
Cell
, vol.21
, pp. 653-668
-
-
Efstratiadis, A.1
Posakony, J.W.2
Maniatis, T.3
Lawn, R.M.4
O'Connell, C.5
Spritz, R.A.6
DeRiel, J.K.7
Forget, B.G.8
Weissman, S.M.9
Slightom, J.L.10
Blechl, A.E.11
Smithies, O.12
Baralle, F.E.13
Shoulders, C.C.14
Proudfoot, N.J.15
-
2
-
-
0028407381
-
Trinucleotide repeat expansions and human genetic disease
-
Bates, G. and Lehrach, H. (1994) Trinucleotide repeat expansions and human genetic disease. BioEssays, 16, 277-284.
-
(1994)
BioEssays
, vol.16
, pp. 277-284
-
-
Bates, G.1
Lehrach, H.2
-
3
-
-
0028168645
-
Length of uninterrupted CGG repeats determines instability in the FMR1 gene
-
Eichler, E.E., Holden, J.J.A., Popovich, B.W., Reiss, A.L., Snow, K., Thibodeau, S.N., Richards, C.S., Ward, P.A. and Nelson, D.L. (1994) Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nature Genet., 8, 88-94.
-
(1994)
Nature Genet.
, vol.8
, pp. 88-94
-
-
Eichler, E.E.1
Holden, J.J.A.2
Popovich, B.W.3
Reiss, A.L.4
Snow, K.5
Thibodeau, S.N.6
Richards, C.S.7
Ward, P.A.8
Nelson, D.L.9
-
4
-
-
0028362315
-
Instability of short tandem repeats (microsatellites) in human cancers
-
Wooster, R., Cleton-Jansen, A.-M., Collins, N., Mangion, J., Cornelis, R.S., Cooper, C.S., Gusterson, B.A., Ponder, B.A.J., von Diemling, A., Wiestler, O.D., Cornelisse, C.J., Devilee, P. and Stratton, M.R. (1994) Instability of short tandem repeats (microsatellites) in human cancers. Nature Genet., 6, 152-156.
-
(1994)
Nature Genet.
, vol.6
, pp. 152-156
-
-
Wooster, R.1
Cleton-Jansen, A.-M.2
Collins, N.3
Mangion, J.4
Cornelis, R.S.5
Cooper, C.S.6
Gusterson, B.A.7
Ponder, B.A.J.8
Von Diemling, A.9
Wiestler, O.D.10
Cornelisse, C.J.11
Devilee, P.12
Stratton, M.R.13
-
5
-
-
10544255085
-
Microsatellite instability and p53 mutations in therapy-related leukemia suggests mutator phenotype
-
Ben-Yehuda, D., Krichevsky, S., Caspi, O., Rund, D., Polliack, A., Abeliovich, D., Zelig, O., Yahalom, V., Paltiel, O., Or, R., Peretz, T., Ben-Neriah, S., Yehuda, O. and Rachmilewitz, E.A. (1996) Microsatellite instability and p53 mutations in therapy-related leukemia suggests mutator phenotype. Blood, 88, 4296-4303.
-
(1996)
Blood
, vol.88
, pp. 4296-4303
-
-
Ben-Yehuda, D.1
Krichevsky, S.2
Caspi, O.3
Rund, D.4
Polliack, A.5
Abeliovich, D.6
Zelig, O.7
Yahalom, V.8
Paltiel, O.9
Or, R.10
Peretz, T.11
Ben-Neriah, S.12
Yehuda, O.13
Rachmilewitz, E.A.14
-
6
-
-
0024509622
-
A review of the molecular genetics of the human alpha-globin gene cluster
-
Higgs, D.R., Vickers, M.A., Wilkie, A.O., Pretorius, I.M., Jarman, A.P. and Weatherall, D.J. (1989) A review of the molecular genetics of the human alpha-globin gene cluster. Blood, 73, 1081-1104.
-
(1989)
Blood
, vol.73
, pp. 1081-1104
-
-
Higgs, D.R.1
Vickers, M.A.2
Wilkie, A.O.3
Pretorius, I.M.4
Jarman, A.P.5
Weatherall, D.J.6
-
8
-
-
0025762012
-
Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
-
Krawczak, M. and Cooper, D.N. (1991) Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum. Genet., 86, 425-441.
-
(1991)
Hum. Genet.
, vol.86
, pp. 425-441
-
-
Krawczak, M.1
Cooper, D.N.2
-
9
-
-
0024292941
-
Deletion formation in bacteriophage T4
-
Singer, B.S. and Westlye, J. (1988) Deletion formation in bacteriophage T4. J. Mol. Biol., 202, 233-243.
-
(1988)
J. Mol. Biol.
, vol.202
, pp. 233-243
-
-
Singer, B.S.1
Westlye, J.2
-
10
-
-
0028533694
-
DNA damage tolerance, mismatch repair and genome instability
-
Karran, P. and Bignami, M. (1994) DNA damage tolerance, mismatch repair and genome instability. BioEssays, 16, 833-839.
-
(1994)
BioEssays
, vol.16
, pp. 833-839
-
-
Karran, P.1
Bignami, M.2
-
11
-
-
0025744705
-
Mechanisms of insertional mutagenesis in human genes causing genetic disease
-
Cooper, D.N. and Krawczak, M. (1991) Mechanisms of insertional mutagenesis in human genes causing genetic disease. Hum. Genet., 87, 409-415.
-
(1991)
Hum. Genet.
, vol.87
, pp. 409-415
-
-
Cooper, D.N.1
Krawczak, M.2
-
12
-
-
0023375059
-
Unusual sequence element found at the end of an amplicon
-
Baran, N., Lapidot, A. and Manor, H. (1987) Unusual sequence element found at the end of an amplicon. Mol. Cell Biol., 7, 2636-2640.
-
(1987)
Mol. Cell Biol.
, vol.7
, pp. 2636-2640
-
-
Baran, N.1
Lapidot, A.2
Manor, H.3
-
13
-
-
0028807448
-
Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes
-
Kang, S., Ohshima, K., Shimizu, M., Amirhaeri, S. and Wells. R.D. (1995) Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes. J. Biol. Chem., 270, 27014-27021.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 27014-27021
-
-
Kang, S.1
Ohshima, K.2
Shimizu, M.3
Amirhaeri, S.4
Wells, R.D.5
-
14
-
-
0028986121
-
Initiation of latent DNA replication in the Epstein-Barr virus genome can occur at sites other than the genetically defined origin
-
Little, R.D. and Schildkraut, C.L. (1995) Initiation of latent DNA replication in the Epstein-Barr virus genome can occur at sites other than the genetically defined origin. Mol. Cell. Biol., 15, 2893-2903.
-
(1995)
Mol. Cell. Biol.
, vol.15
, pp. 2893-2903
-
-
Little, R.D.1
Schildkraut, C.L.2
-
15
-
-
0019738069
-
DNA analysis in the diagnosis of hemoglobin disorders
-
Goossens, M. and Ran, Y.W. (1981) DNA analysis in the diagnosis of hemoglobin disorders. Methods Enzymol., 76, 805-817.
-
(1981)
Methods Enzymol.
, vol.76
, pp. 805-817
-
-
Goossens, M.1
Ran, Y.W.2
-
16
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller, S.A., Dykes, D.D. and Polesky, H.F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res., 16, 1215.
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
17
-
-
0020580228
-
Phenotypic effect of heterozygous alpha and β°-thalassemia interaction
-
Melis, M.A., Pirastu, M., Galanello, R., Furbetta, M., Tuveri, T. and Cao, A. (1983) Phenotypic effect of heterozygous alpha and β°-thalassemia interaction. Blood, 62, 226-229.
-
(1983)
Blood
, vol.62
, pp. 226-229
-
-
Melis, M.A.1
Pirastu, M.2
Galanello, R.3
Furbetta, M.4
Tuveri, T.5
Cao, A.6
-
18
-
-
0026053690
-
Hemoglobin Montreal: A new variant with an extended β chain due to a deletion of Asp, Gly, Leu at positions 73, 74, and 75, and an insertion of Ala, Arg, Cys, Gln at the same location
-
Plaseska, D., Dimovski, A.J., Wilson, J.B., Webber, B.B., Hume, H.A. and Huisman, T.H.J. (1991) Hemoglobin Montreal: a new variant with an extended β chain due to a deletion of Asp, Gly, Leu at positions 73, 74, and 75, and an insertion of Ala, Arg, Cys, Gln at the same location. Blood, 77, 178-181.
-
(1991)
Blood
, vol.77
, pp. 178-181
-
-
Plaseska, D.1
Dimovski, A.J.2
Wilson, J.B.3
Webber, B.B.4
Hume, H.A.5
Huisman, T.H.J.6
-
19
-
-
0025990680
-
Dominant beta-thalassaemia trait in a Portuguese family is caused by a deletion of (G)TGGCTGGTGT(G) and an insertion of (G)GCAG(G) in codons 134, 135, 136 and 137 of the beta-globin gene
-
Oner, R., Oner, C., Wilson, J.B., Tamagnini, O.P., Ribeiro, L.M. and Huisman, T.H. (1991) Dominant beta-thalassaemia trait in a Portuguese family is caused by a deletion of (G)TGGCTGGTGT(G) and an insertion of (G)GCAG(G) in codons 134, 135, 136 and 137 of the beta-globin gene. Br. J. Haematol., 79, 306-10.
-
(1991)
Br. J. Haematol.
, vol.79
, pp. 306-310
-
-
Oner, R.1
Oner, C.2
Wilson, J.B.3
Tamagnini, O.P.4
Ribeiro, L.M.5
Huisman, T.H.6
-
20
-
-
0027377608
-
A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa
-
Hilal, L., Rochat, A., Duquesnoy, P., Blanchet-Bardon, C., Wechsler, J., Martin, N., Christiano, A.M., Barrandon, Y., Uitto, J., Goossens, M. and Hovnanian, A. (1993) A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa. Nature Genet., 5, 287-292.
-
(1993)
Nature Genet.
, vol.5
, pp. 287-292
-
-
Hilal, L.1
Rochat, A.2
Duquesnoy, P.3
Blanchet-Bardon, C.4
Wechsler, J.5
Martin, N.6
Christiano, A.M.7
Barrandon, Y.8
Uitto, J.9
Goossens, M.10
Hovnanian, A.11
-
21
-
-
0027405928
-
A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (Mucopolysaccharidosis IH)
-
Moskowitz, S.M., Tieu, P.T. and Neufeld, E.F. (1993) A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (Mucopolysaccharidosis IH). Hum. Mutat., 2, 71-73.
-
(1993)
Hum. Mutat.
, vol.2
, pp. 71-73
-
-
Moskowitz, S.M.1
Tieu, P.T.2
Neufeld, E.F.3
-
22
-
-
0028787245
-
Molecular defects in Krabbe disease
-
Tatsumi, N., Inui, K., Sakai, N., Fukushima, H., Nishimoto, J., Yanagihara, I., Nishigaki, T., Tsukamoto, H., Fu, L., Taniike, M. and Okada, S. (1995) Molecular defects in Krabbe disease. Hum. Mol. Genet., 4, 1865-1868.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1865-1868
-
-
Tatsumi, N.1
Inui, K.2
Sakai, N.3
Fukushima, H.4
Nishimoto, J.5
Yanagihara, I.6
Nishigaki, T.7
Tsukamoto, H.8
Fu, L.9
Taniike, M.10
Okada, S.11
-
23
-
-
0028268523
-
Detection of mutations of the RBI gene in Retinoblastoma patients by using exon-by-exon PCR-SSCP analysis
-
Shimizu, T., Toguchida, J., Kato, M.V., Kaneko, A., Ishizaki, K. and Sasaki, M.S. (1994) Detection of mutations of the RBI gene in Retinoblastoma patients by using exon-by-exon PCR-SSCP analysis. Am. J. Hum. Genet., 54, 793-800.
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 793-800
-
-
Shimizu, T.1
Toguchida, J.2
Kato, M.V.3
Kaneko, A.4
Ishizaki, K.5
Sasaki, M.S.6
-
24
-
-
0025292312
-
Molecular basis for dominantly inherited inclusion body beta-thalassemia
-
Thein, S.L., Hesketh, C., Taylor, P., Temperley, I.J., Hutehinson, R.M., Old, J.M., Wood, W.G., Clegg, J.B. and Weatherall, D.J. (1990) Molecular basis for dominantly inherited inclusion body beta-thalassemia. Proc. Natl Acad. Sci. USA, 87, 3924-3928.
-
(1990)
Proc. Natl Acad. Sci. USA
, vol.87
, pp. 3924-3928
-
-
Thein, S.L.1
Hesketh, C.2
Taylor, P.3
Temperley, I.J.4
Hutehinson, R.M.5
Old, J.M.6
Wood, W.G.7
Clegg, J.B.8
Weatherall, D.J.9
-
25
-
-
0028936301
-
Glanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein lib gene
-
Peretz, H., Rosenberg, N., Usher, S., Graff, E., Newman, P.J., Coller, B.S. and Seligsohn, U. (1995) Glanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein lib gene. Blood, 85, 414-420.
-
(1995)
Blood
, vol.85
, pp. 414-420
-
-
Peretz, H.1
Rosenberg, N.2
Usher, S.3
Graff, E.4
Newman, P.J.5
Coller, B.S.6
Seligsohn, U.7
-
26
-
-
0025122108
-
An unusual insertion/deletion in the gene encoding the β-subunit of propionyl-CoA carboxylase is frequent mutation in Caucasian propionic acidemia
-
Tahara, T., Kraus, J.P. and Rosenberg, L.E. (1990) An unusual insertion/deletion in the gene encoding the β-subunit of propionyl-CoA carboxylase is frequent mutation in Caucasian propionic acidemia. Proc. Natl Acad. Sci. USA, 87, 1372-1376.
-
(1990)
Proc. Natl Acad. Sci. USA
, vol.87
, pp. 1372-1376
-
-
Tahara, T.1
Kraus, J.P.2
Rosenberg, L.E.3
-
27
-
-
0025167555
-
Two distinct mutations at the same site in the PCCB gene in propionic acidemia
-
Lamhonwah, A., Troxel, C.E., Schuster, S. and Gravel, R.A. (1990) Two distinct mutations at the same site in the PCCB gene in propionic acidemia. Genomics, 8, 249-254.
-
(1990)
Genomics
, vol.8
, pp. 249-254
-
-
Lamhonwah, A.1
Troxel, C.E.2
Schuster, S.3
Gravel, R.A.4
-
28
-
-
0028242364
-
A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region
-
Yamakawa-Kobayashi, K., Kobayashi, T., Yanagi, H., Shimakura, Y., Satoh, J. and Hamaguchi, H. (1994) A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region. Hum. Genet., 93, 625-628.
-
(1994)
Hum. Genet.
, vol.93
, pp. 625-628
-
-
Yamakawa-Kobayashi, K.1
Kobayashi, T.2
Yanagi, H.3
Shimakura, Y.4
Satoh, J.5
Hamaguchi, H.6
-
29
-
-
0029043704
-
A 15-base pair (bp) palindromic insertion associated with a 3-bp deletion in exon 10 of the gp91-phox gene, detected in two patients with X-linked chronic granulomatous disease
-
Ariga, T., Sakiyama, Y. and Matsumoto, S. (1995) A 15-base pair (bp) palindromic insertion associated with a 3-bp deletion in exon 10 of the gp91-phox gene, detected in two patients with X-linked chronic granulomatous disease. Hum. Genet., 96, 6-8.
-
(1995)
Hum. Genet.
, vol.96
, pp. 6-8
-
-
Ariga, T.1
Sakiyama, Y.2
Matsumoto, S.3
-
30
-
-
0028820520
-
Molecular basis of inherited factor XIII deficiency: Identification of multiple mutations provides insights into protein function
-
Anwar, R., Stewart, A.D., Miloszewski, K.J.A., Losowsky, M.S. and Markham, A.F. (1995) Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function. Br. J. Haematol., 91, 728-735.
-
(1995)
Br. J. Haematol.
, vol.91
, pp. 728-735
-
-
Anwar, R.1
Stewart, A.D.2
Miloszewski, K.J.A.3
Losowsky, M.S.4
Markham, A.F.5
-
31
-
-
1842267323
-
Identification of mutations leading to Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA
-
Gibbs, R.A., Nguyen, P., McBride, L.J., Koepf, S.M. and Caskey, C.T. (1989) Identification of mutations leading to Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc. Natl. Acad. Sci. USA, 86, 1919-1923.
-
(1989)
Proc. Natl. Acad. Sci. USA
, vol.86
, pp. 1919-1923
-
-
Gibbs, R.A.1
Nguyen, P.2
McBride, L.J.3
Koepf, S.M.4
Caskey, C.T.5
|