-
1
-
-
0025167556
-
Two families of low-copy repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region
-
Ballabio, A., Bardoni, B., Guioli, S., Basler, E., and Camerino, G. (1990). Two families of low-copy repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region. Genomics 8: 263-270.
-
(1990)
Genomics
, vol.8
, pp. 263-270
-
-
Ballabio, A.1
Bardoni, B.2
Guioli, S.3
Basler, E.4
Camerino, G.5
-
2
-
-
0030819029
-
-
Bouffard, G. G., Idol, J. R., Braden, V. V., Iyer, L. M., Cunningham, A. F., Weintraub, L. A., Touchman, J. W., Mohr-Tidwell, R. M., Peluso, D. C., Fulton, R. S., et al. (1997). Genome Res. 7: 673-692.
-
(1997)
Genome Res.
, vol.7
, pp. 673-692
-
-
Bouffard, G.G.1
Idol, J.R.2
Braden, V.V.3
Iyer, L.M.4
Cunningham, A.F.5
Weintraub, L.A.6
Touchman, J.W.7
Mohr-Tidwell, R.M.8
Peluso, D.C.9
Fulton, R.S.10
-
3
-
-
0027972378
-
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
-
Chance, P. F., Abbas, N., Lensch, M. W., Pentao, L., Roa, B. B., Patel, P. L, and Lupski, J. R. (1994). Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum. Mol. Genet. 3: 223-228.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 223-228
-
-
Chance, P.F.1
Abbas, N.2
Lensch, M.W.3
Pentao, L.4
Roa, B.B.5
Patel, P.L.6
Lupski, J.R.7
-
4
-
-
0029831686
-
Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome
-
Dutly, F., and Schinzel, A. (1996). Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum. Mol. Genet. 5: 1893-1898.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1893-1898
-
-
Dutly, F.1
Schinzel, A.2
-
5
-
-
0029042130
-
Identification of mismatch repair genes and their role in the development of cancers
-
Fishel, R., and Kolodner, R. D. (1995). Identification of mismatch repair genes and their role in the development of cancers. Curr. Opin. Genet. Develop. 5: 382-395.
-
(1995)
Curr. Opin. Genet. Develop.
, vol.5
, pp. 382-395
-
-
Fishel, R.1
Kolodner, R.D.2
-
6
-
-
1842295700
-
Molecular cytogenetic delineation of deletions and translocations involving chromosome band 7q22 in myeloid leukemias
-
Fischer, K., Frohling, S., Scherer, S. W., McAllister Brown, J., Scholl, C., Stilgenbauer, S., Tsui, L.-C., Lichter, P., and Dohner, H. (1997). Molecular cytogenetic delineation of deletions and translocations involving chromosome band 7q22 in myeloid leukemias. Blood 89: 2036-2041.
-
(1997)
Blood
, vol.89
, pp. 2036-2041
-
-
Fischer, K.1
Frohling, S.2
Scherer, S.W.3
McAllister Brown, J.4
Scholl, C.5
Stilgenbauer, S.6
Tsui, L.-C.7
Lichter, P.8
Dohner, H.9
-
7
-
-
0028896268
-
A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome
-
Gilbert-Dussardier, B., Bonneau, D., Gigarel, N., Le Merrer, M., Bonnet, D., Philip, N., Serville, F., Verloes, A., Rossi, A., Ayme, S., Weissenbach, J., Mattel, M.-G., Lyonnet, S., and Munnich, A. (1995). A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome. Am. J. Hum. Genet. 56: 542-544.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 542-544
-
-
Gilbert-Dussardier, B.1
Bonneau, D.2
Gigarel, N.3
Le Merrer, M.4
Bonnet, D.5
Philip, N.6
Serville, F.7
Verloes, A.8
Rossi, A.9
Ayme, S.10
Weissenbach, J.11
Mattel, M.-G.12
Lyonnet, S.13
Munnich, A.14
-
8
-
-
0028080973
-
Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes
-
Horii, A., Han, H.-J., Sasaki, S., Shimada, M., and Nakamura, Y. (1994). Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes. Biochem. Biophys. Res. Commun. 204: 1257-1264.
-
(1994)
Biochem. Biophys. Res. Commun.
, vol.204
, pp. 1257-1264
-
-
Horii, A.1
Han, H.-J.2
Sasaki, S.3
Shimada, M.4
Nakamura, Y.5
-
9
-
-
0029416826
-
An STS-based map of the human genome
-
Hudson, T. J., Stein, L. D., Gerety, S. S., Ma, J., Castle, A. B., Suva, J., Slonim, D., Baptista, R., Kuglyak, L., Xu, S-H., Hu, X., Colbert, A. M. E., Rosenberg, C., Reeve-Daly, M., Rozen, S., Hui, L., Wu, X., Vestergaard, C., Wilson, K. M., Bae, J. S., Maitra, S., Ganiastsas, S., Evans, C. A., DeAngelis, M. M., Ingalls, K. A., Nahf, R. W., Horton, L. T., Oskin Anderson, M., Collymore, A. J., Ye, W., Kouyoumjian, V., Zemsteva, I. S., Tam, J., Devine, R., Courtney, D. F., Turner Renaud, M., Nguyen, H., O'Connor, T. J., Fizames, C., Faure, S., Gyapay, G., Dib, C., Morissette, J., Orlin, J. B., Birren, B. W., Goodman, N., Weissenbach, J., Hawkins, T. L., Foote, S., Page, D. C., and Lander, E. S. (1995). An STS-based map of the human genome. Science 270: 1945-1954.
-
(1995)
Science
, vol.270
, pp. 1945-1954
-
-
Hudson, T.J.1
Stein, L.D.2
Gerety, S.S.3
Ma, J.4
Castle, A.B.5
Suva, J.6
Slonim, D.7
Baptista, R.8
Kuglyak, L.9
Xu, S.-H.10
Hu, X.11
Colbert, A.M.E.12
Rosenberg, C.13
Reeve-Daly, M.14
Rozen, S.15
Hui, L.16
Wu, X.17
Vestergaard, C.18
Wilson, K.M.19
Bae, J.S.20
Maitra, S.21
Ganiastsas, S.22
Evans, C.A.23
Deangelis, M.M.24
Ingalls, K.A.25
Nahf, R.W.26
Horton, L.T.27
Oskin Anderson, M.28
Collymore, A.J.29
Ye, W.30
Kouyoumjian, V.31
Zemsteva, I.S.32
Tam, J.33
Devine, R.34
Courtney, D.F.35
Turner Renaud, M.36
Nguyen, H.37
O'Connor, T.J.38
Fizames, C.39
Faure, S.40
Gyapay, G.41
Dib, C.42
Morissette, J.43
Orlin, J.B.44
Birren, B.W.45
Goodman, N.46
Weissenbach, J.47
Hawkins, T.L.48
Foote, S.49
Page, D.C.50
Lander, E.S.51
more..
-
10
-
-
0028318417
-
A new bacteriophage P1-derived vector for the propagation of large human DNA fragments
-
Ioannou, P. A., Amemiya, C. T., Garnes, J., Kroisel, P. M., Shizuya, H., Chen, C., Batzer, M. A., and de Jong, P. J. (1994). A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nature Genet. 6: 84-89.
-
(1994)
Nature Genet.
, vol.6
, pp. 84-89
-
-
Ioannou, P.A.1
Amemiya, C.T.2
Garnes, J.3
Kroisel, P.M.4
Shizuya, H.5
Chen, C.6
Batzer, M.A.7
De Jong, P.J.8
-
11
-
-
0029874494
-
Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia
-
Johnson, E. J., Scherer, S. W., Osborne, L., Tsui, L.-C., Oscier, D., Mould, S., and Cotter, F. E. (1996). Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia. Blood 87: 3579-3586.
-
(1996)
Blood
, vol.87
, pp. 3579-3586
-
-
Johnson, E.J.1
Scherer, S.W.2
Osborne, L.3
Tsui, L.-C.4
Oscier, D.5
Mould, S.6
Cotter, F.E.7
-
12
-
-
9044227270
-
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis
-
Konrad, M., Saunier, S., Heidet, L., Silbermann, F., Benessy, F., Calado, J., Le Paslier, D., Broyer, M., Gubler, M. C., and Antignac, C. (1996). Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum. Mol. Genet. 3: 367-371.
-
(1996)
Hum. Mol. Genet.
, vol.3
, pp. 367-371
-
-
Konrad, M.1
Saunier, S.2
Heidet, L.3
Silbermann, F.4
Benessy, F.5
Calado, J.6
Le Paslier, D.7
Broyer, M.8
Gubler, M.C.9
Antignac, C.10
-
13
-
-
0024430850
-
Cloning and nucleotide sequence of DNA mismatch repair gene PMS1 from Saccharomyces cerevisiae: Homology of PMS1 to procaryotic MutL and HexB
-
Kramer, W., Kramer, B., Williamson, M.S., and Fogel, S. (1989). Cloning and nucleotide sequence of DNA mismatch repair gene PMS1 from Saccharomyces cerevisiae: Homology of PMS1 to procaryotic MutL and HexB. J. Bacteriol. 171: 5339-5346.
-
(1989)
J. Bacteriol.
, vol.171
, pp. 5339-5346
-
-
Kramer, W.1
Kramer, B.2
Williamson, M.S.3
Fogel, S.4
-
14
-
-
0027520025
-
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia
-
Lakich, D., Kazazian, H. H., Antonarakis, S. E., and Gitschier, J. (1993). Inversions disrupting the factor VIII gene are a common cause of severe haemophilia. Nature Genet. 5: 236-241.
-
(1993)
Nature Genet.
, vol.5
, pp. 236-241
-
-
Lakich, D.1
Kazazian, H.H.2
Antonarakis, S.E.3
Gitschier, J.4
-
15
-
-
0027145633
-
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
-
Leach, F. S., Nicolaides, N. C., Papadopoulos, N., Liu, B., Jen, J., Parsons, R., Peltomaki, P., Sistonen, P., Aaltonen, L. A., Nystrom-Lahti, M., et al. (1993). Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75: 1215-1225.
-
(1993)
Cell
, vol.75
, pp. 1215-1225
-
-
Leach, F.S.1
Nicolaides, N.C.2
Papadopoulos, N.3
Liu, B.4
Jen, J.5
Parsons, R.6
Peltomaki, P.7
Sistonen, P.8
Aaltonen, L.A.9
Nystrom-Lahti, M.10
-
16
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre, S., Burglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M., et al. (1995). Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80: 155-165.
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
Benichou, B.7
Cruaud, C.8
Millasseau, P.9
Zeviani, M.10
-
17
-
-
0027933070
-
Mutations of two PMS homologues in hereditary nonpolyposis colon cancer
-
Nicolaides, N. C., Papadopoulos, N., Liu, B., Wei, Y.-F., Carter, K. C., Ruben, S. M., et al. (1994). Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371: 75-80.
-
(1994)
Nature
, vol.371
, pp. 75-80
-
-
Nicolaides, N.C.1
Papadopoulos, N.2
Liu, B.3
Wei, Y.-F.4
Carter, K.C.5
Ruben, S.M.6
-
18
-
-
0029100814
-
Analysis of the 5' region of PMS2 reveals heterogeneous transcripts and a novel overlapping gene
-
Nicolaides, N. C., Kinzler, K., and Vogelstein, B. (1995). Analysis of the 5' region of PMS2 reveals heterogeneous transcripts and a novel overlapping gene. Genomics 29: 329-334.
-
(1995)
Genomics
, vol.29
, pp. 329-334
-
-
Nicolaides, N.C.1
Kinzler, K.2
Vogelstein, B.3
-
19
-
-
0028849441
-
Genomic organization of the human PMS2 gene family
-
Nicolaides, N. C., Carter, K. C., Shell, B. K., Papadopoulos, N., Vogelstein, B., and Kinzler, K. (1995). Genomic organization of the human PMS2 gene family. Genomics 30: 195-206.
-
(1995)
Genomics
, vol.30
, pp. 195-206
-
-
Nicolaides, N.C.1
Carter, K.C.2
Shell, B.K.3
Papadopoulos, N.4
Vogelstein, B.5
Kinzler, K.6
-
20
-
-
0030249984
-
Identification of genes from a 500 kb region at 7q11.23 that is commonly deleted in Williams syndrome
-
Osborne, L. R., Martindale, D., Scherer, S. W., Shi, X.-M., Huizenga, J., Heng, H. Q., Costa, T., Pober, B., Lew, L., Brinkman, J., Rommens, J. R., Koop, B., and Tsui, L.-C. (1996). Identification of genes from a 500 kb region at 7q11.23 that is commonly deleted in Williams syndrome. Genomics 36: 328-336.
-
(1996)
Genomics
, vol.36
, pp. 328-336
-
-
Osborne, L.R.1
Martindale, D.2
Scherer, S.W.3
Shi, X.-M.4
Huizenga, J.5
Heng, H.Q.6
Costa, T.7
Pober, B.8
Lew, L.9
Brinkman, J.10
Rommens, J.R.11
Koop, B.12
Tsui, L.-C.13
-
21
-
-
0030848775
-
Hemizygous deletion of syntaxin 1A gene in individuals with Williams syndrome
-
Osborne, L. R., Soder, S., Shi, X.-M., Pober, B., Costa, T., Scherer, S. W., and Tsui, L.-C. (1997). Hemizygous deletion of syntaxin 1A gene in individuals with Williams syndrome. Am. J. Hum. Genet. 61: 449-452.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 449-452
-
-
Osborne, L.R.1
Soder, S.2
Shi, X.-M.3
Pober, B.4
Costa, T.5
Scherer, S.W.6
Tsui, L.-C.7
-
22
-
-
0028350601
-
Mutation of a mutL homolog in hereditary colon cancer
-
Papadopoulos, N., Nicolaides, N. C., Wei, Y.-F., Ruben, S. M., Carter, K. C., Adams, M. D., et al. (1994). Mutation of a mutL homolog in hereditary colon cancer. Science 263: 1625-1629.
-
(1994)
Science
, vol.263
, pp. 1625-1629
-
-
Papadopoulos, N.1
Nicolaides, N.C.2
Wei, Y.-F.3
Ruben, S.M.4
Carter, K.C.5
Adams, M.D.6
-
23
-
-
0029061638
-
Mismatch repair deficiency in phenotypically normal human cells
-
Parsons, R., Li, G. M., Longley, M., Modrich, P., Liu, B., Berk, T., Hamilton, S. R., Kinzler, K. W., and Vogelstein, B. (1995). Mismatch repair deficiency in phenotypically normal human cells. Science 268: 738-740.
-
(1995)
Science
, vol.268
, pp. 738-740
-
-
Parsons, R.1
Li, G.M.2
Longley, M.3
Modrich, P.4
Liu, B.5
Berk, T.6
Hamilton, S.R.7
Kinzler, K.W.8
Vogelstein, B.9
-
24
-
-
0027017033
-
Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
-
Pentao, L., Wise, C. A., Chinault, A. C., Patel, P. I., and Lupski, J. R. (1992). Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nature Genet. 2: 292-300.
-
(1992)
Nature Genet.
, vol.2
, pp. 292-300
-
-
Pentao, L.1
Wise, C.A.2
Chinault, A.C.3
Patel, P.I.4
Lupski, J.R.5
-
25
-
-
0002391264
-
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth
-
Perez-Jurado, L. A., Peoples, R., Kaplan, P., Hamel, B. C. J., and Francke, U. (1996). Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am. J. Hum. Genet. 59: 781-792.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 781-792
-
-
Perez-Jurado, L.A.1
Peoples, R.2
Kaplan, P.3
Hamel, B.C.J.4
Francke, U.5
-
26
-
-
0029891886
-
Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion
-
Robinson, W. P., Waslynka, J., Bernasconi, F., Wang, M., Clark, S., Kotzot, D., and Schinzel, A. (1996). Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion. Genomics 34: 17-23.
-
(1996)
Genomics
, vol.34
, pp. 17-23
-
-
Robinson, W.P.1
Waslynka, J.2
Bernasconi, F.3
Wang, M.4
Clark, S.5
Kotzot, D.6
Schinzel, A.7
-
27
-
-
0026450068
-
A human chromosome 7-specific genomic DNA library in yeast artificial chromosomes
-
Scherer, S. W., Tompkins, B. J. F., and Tsui, L.-C. (1992). A human chromosome 7-specific genomic DNA library in yeast artificial chromosomes. Mamm. Genome 3: 179-181.
-
(1992)
Mamm. Genome
, vol.3
, pp. 179-181
-
-
Scherer, S.W.1
Tompkins, B.J.F.2
Tsui, L.-C.3
-
28
-
-
0031005848
-
Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats
-
Small, K., Iber, J., and Warren, S. T. (1997). Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats. Nature Genet. 16: 96-99.
-
(1997)
Nature Genet.
, vol.16
, pp. 96-99
-
-
Small, K.1
Iber, J.2
Warren, S.T.3
-
29
-
-
85030305600
-
Constitutional chromosome inversion 7 [inv(7)(q11.2q22)] and acute leukemia
-
Stanley, W. S., Burkett, S., Segel, B., Quiery, A., George, B., Lobel, J., and Shah, N. (1995). Constitutional chromosome inversion 7 [inv(7)(q11.2q22)] and acute leukemia. Am. J. Hum. Genet. 57(Suppl.): A77.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, Issue.SUPPL.
-
-
Stanley, W.S.1
Burkett, S.2
Segel, B.3
Quiery, A.4
George, B.5
Lobel, J.6
Shah, N.7
-
30
-
-
26844550084
-
Physical mapping of the long arm of chromosome 7
-
Tsui, L.-C., Scherer, S. W., Vandenberg, G., Traverso, G., Little, S., Belloni, E., Osborne, L. R., Huizenga, J., Shi, X.-M., and Heng, H. H. Q. (1995). Physical mapping of the long arm of chromosome 7. Cytogenet. Cell Genet. 71: 22.
-
(1995)
Cytogenet. Cell Genet.
, vol.71
, pp. 22
-
-
Tsui, L.-C.1
Scherer, S.W.2
Vandenberg, G.3
Traverso, G.4
Little, S.5
Belloni, E.6
Osborne, L.R.7
Huizenga, J.8
Shi, X.-M.9
Heng, H.H.Q.10
-
31
-
-
0029798778
-
7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover
-
Urban, Z., Helms, C., Fekete, G., Csiszar, K., Bonnet, D., Munnich, A., Donis-Keller, H., and Boyd, C. (1996). 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am. J. Hum. Genet. 59: 958-962.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 958-962
-
-
Urban, Z.1
Helms, C.2
Fekete, G.3
Csiszar, K.4
Bonnet, D.5
Munnich, A.6
Donis-Keller, H.7
Boyd, C.8
-
32
-
-
0031043863
-
A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23
-
Wang, Y.-K., Samos, C. H., Peoples, R., Perez-Jurado, L. A., Nusse, R., and Francke, U. (1997). A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23. Hum. Mol. Genet 6: 465-472.
-
(1997)
Hum. Mol. Genet
, vol.6
, pp. 465-472
-
-
Wang, Y.-K.1
Samos, C.H.2
Peoples, R.3
Perez-Jurado, L.A.4
Nusse, R.5
Francke, U.6
-
33
-
-
0021930514
-
Meiotic gene conversion mutants in Saccharomyces cerevisiae. I. Isolation and characterization of pms1-1 and pms1-2
-
Williamson, M. S., Game, J.-C., and Vogel, S. (1985). Meiotic gene conversion mutants in Saccharomyces cerevisiae. I. Isolation and characterization of pms1-1 and pms1-2. Genetics 110: 609-646.
-
(1985)
Genetics
, vol.110
, pp. 609-646
-
-
Williamson, M.S.1
Game, J.-C.2
Vogel, S.3
-
34
-
-
0025280088
-
Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements
-
Yen, P. H., Li, X. M., Tsai, S. P., Johnson, C., Mohandas, T., and Shapiro, L. J. (1990). Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements. Cell 61: 603-610.
-
(1990)
Cell
, vol.61
, pp. 603-610
-
-
Yen, P.H.1
Li, X.M.2
Tsai, S.P.3
Johnson, C.4
Mohandas, T.5
Shapiro, L.J.6
-
35
-
-
0031001030
-
Loss of heterozygosity and reduced expression of the CUTL1 gene in uterine leiomyomas
-
Zeng, W. R., Scherer, S. W., Koutsilieris, M., Huizenga, J., Tsui, L.-C., and Nepveu, A. (1997). Loss of heterozygosity and reduced expression of the CUTL1 gene in uterine leiomyomas. Oncogene 14: 2355-2365.
-
(1997)
Oncogene
, vol.14
, pp. 2355-2365
-
-
Zeng, W.R.1
Scherer, S.W.2
Koutsilieris, M.3
Huizenga, J.4
Tsui, L.-C.5
Nepveu, A.6
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