-
1
-
-
0028838492
-
The genetic background of craniosynostosis syndromes
-
Heutink, P., Vermeeij-Keers, C. and Oostra, B.A. (1995) The genetic background of craniosynostosis syndromes. Eur. J. Genet. 3, 312-323.
-
(1995)
Eur. J. Genet.
, vol.3
, pp. 312-323
-
-
Heutink, P.1
Vermeeij-Keers, C.2
Oostra, B.A.3
-
2
-
-
8544228440
-
Investigation of a suspected increased prevalence of craniosynostosis: Colorado, 1978-1982
-
Lammer, E.J., Cordero, J.F., Wilson, M.J., Oimette, D. and Ferguson, S. (1987) Investigation of a suspected increased prevalence of craniosynostosis: Colorado, 1978-1982. Proc. Greenwood Genet. Cent. 6, 126-127.
-
(1987)
Proc. Greenwood Genet. Cent.
, vol.6
, pp. 126-127
-
-
Lammer, E.J.1
Cordero, J.F.2
Wilson, M.J.3
Oimette, D.4
Ferguson, S.5
-
5
-
-
72849168864
-
Apert's syndrome (a type of acrocephalosyndactyly): Observations on a British series of thirty-nine cases
-
Blank, C.E. (1960) Apert's syndrome (a type of acrocephalosyndactyly): Observations on a British series of thirty-nine cases. Ann. Hum. Genet. 24, 151-164.
-
(1960)
Ann. Hum. Genet.
, vol.24
, pp. 151-164
-
-
Blank, C.E.1
-
6
-
-
0028798546
-
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
-
Wilkie, A.O.M., Slaney, S.F., Oldridge, M., Poole, M.D., Ashworth, G.J., Hockley, A.D., Hayward, R.D., David, D.J., Pulleyn, L.J., Rutland, P., Malcolm, S., Winter, R.M. and Reardon, W. (1995) Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet. 9, 165-172.
-
(1995)
Nature Genet.
, vol.9
, pp. 165-172
-
-
Wilkie, A.O.M.1
Slaney, S.F.2
Oldridge, M.3
Poole, M.D.4
Ashworth, G.J.5
Hockley, A.D.6
Hayward, R.D.7
David, D.J.8
Pulleyn, L.J.9
Rutland, P.10
Malcolm, S.11
Winter, R.M.12
Reardon, W.13
-
7
-
-
0028113931
-
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
-
Jabs, E. W., Li, X., Scott, A. F., Meyers, G., Chen, W., Eccles, M., Mao, J. I., Charnas, L. R., Jackson , C. E. and Jaye, M. (1994). Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nature Genet. 8, 275-279.
-
(1994)
Nature Genet.
, vol.8
, pp. 275-279
-
-
Jabs, E.W.1
Li, X.2
Scott, A.F.3
Meyers, G.4
Chen, W.5
Eccles, M.6
Mao, J.I.7
Charnas, L.R.8
Jackson, C.E.9
Jaye, M.10
-
8
-
-
0029242747
-
FGFR2 mutations in Pfeiffer syndrome
-
Lajeunie, E., Ma, H.W., Bonaventure, J., Munnich, A., Le Merrer, M. and Renier, D. (1995) FGFR2 mutations in Pfeiffer syndrome. Nature Genet. 9, 108.
-
(1995)
Nature Genet.
, vol.9
, pp. 108
-
-
Lajeunie, E.1
Ma, H.W.2
Bonaventure, J.3
Munnich, A.4
Le Merrer, M.5
Renier, D.6
-
9
-
-
0029109137
-
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
-
Rutland, P., Pulleyn, L.J., Reardon, W., Baraitser, M., Hayward, R.D., Jones, B., Malcolm, S., Winter, R.M., Oldridge, M., Slaney, S.F., Poole, M.D. and Wilkie, A.O.M. (1995) Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet. 9, 173-176.
-
(1995)
Nature Genet.
, vol.9
, pp. 173-176
-
-
Rutland, P.1
Pulleyn, L.J.2
Reardon, W.3
Baraitser, M.4
Hayward, R.D.5
Jones, B.6
Malcolm, S.7
Winter, R.M.8
Oldridge, M.9
Slaney, S.F.10
Poole, M.D.11
Wilkie, A.O.M.12
-
10
-
-
0028930046
-
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
-
Schell, U., Hehr, A., Feldman, G.J., Robin, N.H., Zackai, E.H., de Die-Smulders, C., Viskochil, D.H., Stewart, J.M., Wolff, G., Hirofumi, O., Price, A.R., Cohen, M.M., and Muenke, M. (1995) Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum. Mol. Genet. 4, 323-328.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 323-328
-
-
Schell, U.1
Hehr, A.2
Feldman, G.J.3
Robin, N.H.4
Zackai, E.H.5
De Die-Smulders, C.6
Viskochil, D.H.7
Stewart, J.M.8
Wolff, G.9
Hirofumi, O.10
Price, A.R.11
Cohen, M.M.12
Muenke, M.13
-
11
-
-
0027981524
-
Mutations in the fibroblast growth factor receptor 2 gene causes Crouzon syndrome
-
Reardon, W., Winter, R.M., Rutland, P., Pulleyn, L.J., Jones, B.M. and Malcolm, S. (1994). Mutations in the fibroblast growth factor receptor 2 gene causes Crouzon syndrome. Nature Genet. 8, 98-103
-
(1994)
Nature Genet.
, vol.8
, pp. 98-103
-
-
Reardon, W.1
Winter, R.M.2
Rutland, P.3
Pulleyn, L.J.4
Jones, B.M.5
Malcolm, S.6
-
12
-
-
0029089845
-
Crouzon syndrome: Mutations in two spliceforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome
-
Gorry, M.C., Preston, R.A., White, G.J., Zhang, Y., Singhai, V.K., Losken, H.W., Parker, M.G., Nwokoro, N.A., Post, J.C. and Ehrlich, G.D. (1995) Crouzon syndrome: mutations in two spliceforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. Hum. Mol. Genet. 5, 1387-1390.
-
(1995)
Hum. Mol. Genet.
, vol.5
, pp. 1387-1390
-
-
Gorry, M.C.1
Preston, R.A.2
White, G.J.3
Zhang, Y.4
Singhai, V.K.5
Losken, H.W.6
Parker, M.G.7
Nwokoro, N.A.8
Post, J.C.9
Ehrlich, G.D.10
-
13
-
-
0028810959
-
No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis
-
Ma, H.W., Lajeunie, E., Le Merrer, M., de Parseval, N., Serville, F., Weissenbach, J., Munnich, A. and Renier, D. (1995) No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis. Hum. Genet. 96, 731-735.
-
(1995)
Hum. Genet.
, vol.96
, pp. 731-735
-
-
Ma, H.W.1
Lajeunie, E.2
Le Merrer, M.3
De Parseval, N.4
Serville, F.5
Weissenbach, J.6
Munnich, A.7
Renier, D.8
-
14
-
-
0029031730
-
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome
-
Oldridge, M., Wilkie, A.O.M., Slaney, S.F., Poole, M.D., Pulleyn, L.J., Rutland, P., Hockley, A.D., Wake, M.J.C., Goldin, J.H., Winter, R.M., Reardon, W. and Malcom, S. (1995) Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. Hum. Mol. Genet. 4, 1077-1082.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1077-1082
-
-
Oldridge, M.1
Wilkie, A.O.M.2
Slaney, S.F.3
Poole, M.D.4
Pulleyn, L.J.5
Rutland, P.6
Hockley, A.D.7
Wake, M.J.C.8
Goldin, J.H.9
Winter, R.M.10
Reardon, W.11
Malcom, S.12
-
15
-
-
0029004086
-
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability
-
Park, W.-J., Meyers, G.A., Li, X.,Theda, C., Day, D., Orlow, S.J., Jones, M.C. and Jabs, E.W. (1995) Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum. Mol. Genet. 4, 1229-1233.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1229-1233
-
-
Park, W.-J.1
Meyers, G.A.2
Li, X.3
Theda, C.4
Day, D.5
Orlow, S.J.6
Jones, M.C.7
Jabs, E.W.8
-
16
-
-
0029053457
-
Predisposition for cystein substitution in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome
-
Steinberger, D., Mulliken, J.B. and Müller, U. (1995) Predisposition for cystein substitution in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome. Hum. Genet. 96, 113-115.
-
(1995)
Hum. Genet.
, vol.96
, pp. 113-115
-
-
Steinberger, D.1
Mulliken, J.B.2
Müller, U.3
-
17
-
-
0029883637
-
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome
-
Slaney, S.F., Oidridge, M., Hurst, J.A., Morris-Kay, G.M., Hall, C.M., Poole, M.D. and Wilkie, A.O.M. (1996) Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am. J. Hum. Genet. 58, 923-932.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 923-932
-
-
Slaney, S.F.1
Oidridge, M.2
Hurst, J.A.3
Morris-Kay, G.M.4
Hall, C.M.5
Poole, M.D.6
Wilkie, A.O.M.7
-
18
-
-
0001636485
-
Ein Beitrag zum Turmschädelproblem (Pathogenese, Erblichkeit und Symptomatologie)
-
Saethre, M. (1931) Ein Beitrag zum Turmschädelproblem (Pathogenese, Erblichkeit und Symptomatologie). Dtsch Z. Nervenheikd. 119, 533-555
-
(1931)
Dtsch Z. Nervenheikd.
, vol.119
, pp. 533-555
-
-
Saethre, M.1
-
19
-
-
0001956946
-
Eine eigenartige familiäre Entwicklungsstörung (Akrocephalosyndaktylie, Dystosis craniofacialis und Hypertelorismus)
-
Chotzen, F. (1932) Eine eigenartige familiäre Entwicklungsstörung (Akrocephalosyndaktylie, Dystosis craniofacialis und Hypertelorismus). Monatsschr. Kinderheilkd. 55, 97-122.
-
(1932)
Monatsschr. Kinderheilkd.
, vol.55
, pp. 97-122
-
-
Chotzen, F.1
-
20
-
-
0031021336
-
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
-
Howard, T.D., Paznekas, W.A., Green, E., Chiang, L.C., Ma, N., Isela, R., De Luna, O., Delgado, C.G., Gonzales-Ramos, M., Kline, A.D. and Jabs, E.W. (1997) Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nature Genet. 15, 36-41
-
(1997)
Nature Genet.
, vol.15
, pp. 36-41
-
-
Howard, T.D.1
Paznekas, W.A.2
Green, E.3
Chiang, L.C.4
Ma, N.5
Isela, R.6
De Luna, O.7
Delgado, C.G.8
Gonzales-Ramos, M.9
Kline, A.D.10
Jabs, E.W.11
-
21
-
-
0026672007
-
Mapping of a gene for craniosynostosis: Evidence for linkage of Saethre-Chotzen syndrome to distal chromosome 7p
-
Brueton ,L.A., Herwerden ,L. van, Chotai, K.A. and Winter, R.M. (1992) Mapping of a gene for craniosynostosis: evidence for linkage of Saethre-Chotzen syndrome to distal chromosome 7p. J. Med. Genet. 29, 681-685.
-
(1992)
J. Med. Genet.
, vol.29
, pp. 681-685
-
-
Brueton, L.A.1
Herwerden, L.2
Van Chotai, K.A.3
Winter, R.M.4
-
22
-
-
0028144604
-
Genetic heterogeneity among craniosynostosis syndromes: Mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p
-
Lewanda, A.F., Cohen, M.M., Jackson, C.E., Taylor, E.W., Li, X., Beloff, M., Day, D., Clarren, S.K., Ortiz, R., Garcia, C., Hauselman, E., Figueroa, A., Wulfsberg, E., Wilson, M., Warman, M.L., Padwa, B.L., Whiteman, D.A.H., Mulliken, J.B. and Jabs. E.W. (1994) Genetic heterogeneity among craniosynostosis syndromes: Mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. Genomics 19, 115-119.
-
(1994)
Genomics
, vol.19
, pp. 115-119
-
-
Lewanda, A.F.1
Cohen, M.M.2
Jackson, C.E.3
Taylor, E.W.4
Li, X.5
Beloff, M.6
Day, D.7
Clarren, S.K.8
Ortiz, R.9
Garcia, C.10
Hauselman, E.11
Figueroa, A.12
Wulfsberg, E.13
Wilson, M.14
Warman, M.L.15
Padwa, B.L.16
Whiteman, D.A.H.17
Mulliken, J.B.18
Jabs, E.W.19
-
23
-
-
0028072542
-
Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient
-
Lewanda, A.F., Green, E.D., Weissenbach, J., Jerald, H.,Taylor, E., Summar, M.L., Phillips, J.A., Cohen, M., Feingold, M., Mouradian, W., Clarren, S.K. and Jabs, E.W. (1994) Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient. Am. J. Hum. Genet. 55, 1195-1201
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 1195-1201
-
-
Lewanda, A.F.1
Green, E.D.2
Weissenbach, J.3
Jerald, H.4
Taylor, E.5
Summar, M.L.6
Phillips, J.A.7
Cohen, M.8
Feingold, M.9
Mouradian, W.10
Clarren, S.K.11
Jabs, E.W.12
-
24
-
-
0028086295
-
Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2
-
Rose, C. S., King, A. A., Summers, D., Palmer, R., Yang, S., Wilkie, A. O., Reardon, W., Malcolm, S. and Winter, R. M. (1994) Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2. Hum. Mol. Genet. 3, 1405-1408.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1405-1408
-
-
Rose, C.S.1
King, A.A.2
Summers, D.3
Palmer, R.4
Yang, S.5
Wilkie, A.O.6
Reardon, W.7
Malcolm, S.8
Winter, R.M.9
-
25
-
-
0028287077
-
Evidence for locus heterogeneity in acrocephalosyndactyly: A refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7 and exclusion of Jackson-Weiss syndrome from craniosynostosis loci 7p and 5q
-
van Herwerden, L., Rose, C.S., Reardon, W., Brueton, L.A., Weissenbach, J., Malcolm, S. and Winter, R.M. (1994) Evidence for locus heterogeneity in acrocephalosyndactyly: A refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7 and exclusion of Jackson-Weiss syndrome from craniosynostosis loci 7p and 5q. Am. J. Hum. Genet. 54, 669-674.
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 669-674
-
-
Van Herwerden, L.1
Rose, C.S.2
Reardon, W.3
Brueton, L.A.4
Weissenbach, J.5
Malcolm, S.6
Winter, R.M.7
-
26
-
-
0028054672
-
Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation
-
Tsuji,K., Narahara,K.,Kikkawa, M., Murakami, Y., Yokoyama.Y., Ninomiya, S. and Seino, Y. (1994) Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation. Am. J. Med. Genet. 49, 98-102.
-
(1994)
Am. J. Med. Genet.
, vol.49
, pp. 98-102
-
-
Tsuji, K.1
Narahara, K.2
Kikkawa, M.3
Murakami, Y.4
Yokoyama, Y.5
Ninomiya, S.6
Seino, Y.7
-
27
-
-
0031012353
-
Mutations of the TWIST gene in Saethre-Chotzen syndrome
-
El Ghouzzi, V., Merrer, M.L., Perrin-Schmitt, F., Lajeunie, E., Benit, P., Renier, D., Bourgeois, P., Bolcato-Bellemin, A.-L., Munnich, A. and Bonaventure, J. (1997) Mutations of the TWIST gene in Saethre-Chotzen syndrome. Nature Genet. 15, 42-46
-
(1997)
Nature Genet.
, vol.15
, pp. 42-46
-
-
El Ghouzzi, V.1
Merrer, M.L.2
Perrin-Schmitt, F.3
Lajeunie, E.4
Benit, P.5
Renier, D.6
Bourgeois, P.7
Bolcato-Bellemin, A.-L.8
Munnich, A.9
Bonaventure, J.10
-
28
-
-
0028918665
-
The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a YAC clone containing the D7S503 locus
-
Tsuji, K., Narahara, K., Yokoyama, Y., Grzeschik, K.-H. and Kunz, J. (1995) The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a YAC clone containing the D7S503 locus. Hum. Genet. 95, 303-307.
-
(1995)
Hum. Genet.
, vol.95
, pp. 303-307
-
-
Tsuji, K.1
Narahara, K.2
Yokoyama, Y.3
Grzeschik, K.-H.4
Kunz, J.5
-
29
-
-
0027722232
-
The isochore organization of the human genome and its evolutionary history-A review
-
Bernardi, G. (1993) The isochore organization of the human genome and its evolutionary history-A review. Gene 135, 57-66.
-
(1993)
Gene
, vol.135
, pp. 57-66
-
-
Bernardi, G.1
-
30
-
-
0028933142
-
Twist is required in head mesenchyme for cranial neural tube morphogenesis
-
Chen, Z.-F., and Behringer, R.R. (1995) Twist is required in head mesenchyme for cranial neural tube morphogenesis. Genes Dev. 9, 686-699.
-
(1995)
Genes Dev.
, vol.9
, pp. 686-699
-
-
Chen, Z.-F.1
Behringer, R.R.2
-
31
-
-
0030581149
-
Chromatin unfolds
-
Felsenfeld, G. (1996) Chromatin unfolds. Cell 86, 13-19.
-
(1996)
Cell
, vol.86
, pp. 13-19
-
-
Felsenfeld, G.1
-
32
-
-
0030294408
-
Mutations in the human sonic hedgehog gene cause holoprosencephaly
-
Roessler, E., Belloni, E., Gaudenz, K., Jay, P., Berta, P., Scherer, S.W., Tsui, L.-C., and Muenke, M. (1996) Mutations in the human sonic hedgehog gene cause holoprosencephaly. Nature Genet. 14, 357-360.
-
(1996)
Nature Genet.
, vol.14
, pp. 357-360
-
-
Roessler, E.1
Belloni, E.2
Gaudenz, K.3
Jay, P.4
Berta, P.5
Scherer, S.W.6
Tsui, L.-C.7
Muenke, M.8
-
33
-
-
16144368562
-
Identification of sonic hedgehog as a candidate gene responsible for holoprosencephaly
-
Belloni, E., Muenke, M., Roessler, E., Traverso, G., Siegel-Bartelt, J., Frumkin, A., Mitchell, H.F., Donis-Keller, H., Helms, C., Hing, A.V., Heng, H.Q.H., Koop, B., Martindale, D., Rommens, J.M., Tsui, L.-C., and Scherer, S.W. (1996) Identification of sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nature Genet. 14, 353-356.
-
(1996)
Nature Genet.
, vol.14
, pp. 353-356
-
-
Belloni, E.1
Muenke, M.2
Roessler, E.3
Traverso, G.4
Siegel-Bartelt, J.5
Frumkin, A.6
Mitchell, H.F.7
Donis-Keller, H.8
Helms, C.9
Hing, A.V.10
Heng, H.Q.H.11
Koop, B.12
Martindale, D.13
Rommens, J.M.14
Tsui, L.-C.15
Scherer, S.W.16
-
34
-
-
0025812172
-
GL13 zinc-finger gene interrupted by translocations in Greig syndrome families
-
Vortkamp, A., Gessler, M. and Grzeschik, K.- H. (1991) GL13 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 352, 539-540.
-
(1991)
Nature
, vol.352
, pp. 539-540
-
-
Vortkamp, A.1
Gessler, M.2
Grzeschik, K.H.3
-
35
-
-
0028907724
-
Aniridia-associated cytogenetic rearrangements suggests that a position effect may cause the mutant phenotype
-
Fantes, J., Redeker, B., Breen, M., Boyle, S., Brown, J., Fletcher, J., Jones, S., Bickmore, W., Fukushima ,Y., Mannens, M., Danes, S. and van Heyningen, V. (1995) Aniridia-associated cytogenetic rearrangements suggests that a position effect may cause the mutant phenotype. Hum. Mol. Genet. 4, 415-422.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 415-422
-
-
Fantes, J.1
Redeker, B.2
Breen, M.3
Boyle, S.4
Brown, J.5
Fletcher, J.6
Jones, S.7
Bickmore, W.8
Fukushima, Y.9
Mannens, M.10
Danes, S.11
Van Heyningen, V.12
-
36
-
-
0029876131
-
Craniosynostosis suggestive of Saethre-Chotzen syndrome: Clinical description of a large kindred and exclusion of candidate regions on 7p
-
von Gernet, S., Schuffenhauer, S., Golla, A., Lichtner, P., Balg, S., Mühlbauer, W., Murken, J., Fairly, J., and Meitinger, T. (1996) Craniosynostosis suggestive of Saethre-Chotzen syndrome: Clinical description of a large kindred and exclusion of candidate regions on 7p. Am. J. Med. Genet. 63, 177-184.
-
(1996)
Am. J. Med. Genet.
, vol.63
, pp. 177-184
-
-
Von Gernet, S.1
Schuffenhauer, S.2
Golla, A.3
Lichtner, P.4
Balg, S.5
Mühlbauer, W.6
Murken, J.7
Fairly, J.8
Meitinger, T.9
-
37
-
-
9044223283
-
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching
-
Banfi, S., Borsani, G., Rossi, E., Bernard, L., Guffanti, A., Rubboli, F., Marchitiello, A., Giglio, S., Coluccia, E., Zollo, M., Zuffardi, O. and Ballabio, A. (1996) Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching. Nature Genet. 13, 167-174.
-
(1996)
Nature Genet.
, vol.13
, pp. 167-174
-
-
Banfi, S.1
Borsani, G.2
Rossi, E.3
Bernard, L.4
Guffanti, A.5
Rubboli, F.6
Marchitiello, A.7
Giglio, S.8
Coluccia, E.9
Zollo, M.10
Zuffardi, O.11
Ballabio, A.12
-
38
-
-
0029042877
-
Report of the second international workshop on human chromosome 7 mapping 1994
-
Tsui, L.-C., Donis-Keller, H. and Grzeschik, K.-H. (1995). Report of the second international workshop on human chromosome 7 mapping 1994. Cytngenet. Cell Genet. 71, 2-21.
-
(1995)
Cytngenet. Cell Genet.
, vol.71
, pp. 2-21
-
-
Tsui, L.-C.1
Donis-Keller, H.2
Grzeschik, K.-H.3
-
39
-
-
0027981512
-
Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region
-
Vortkamp, A., Gessler, M., Le Paslier, D., Elaswarapu, R., Smith, S. and Grzeschik, K.-H. (1994) Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region. Genomics 22, 563-568.
-
(1994)
Genomics
, vol.22
, pp. 563-568
-
-
Vortkamp, A.1
Gessler, M.2
Le Paslier, D.3
Elaswarapu, R.4
Smith, S.5
Grzeschik, K.-H.6
-
40
-
-
0018791974
-
Identification of the yeast DNA sequences that correspond to specific tyrosine-inserting nonsense suppressor loci
-
Olson, M. V., Loughney, K. and Hall, B. D. (1979) Identification of the yeast DNA sequences that correspond to specific tyrosine-inserting nonsense suppressor loci. J. Mol. Biol. 132, 387-410
-
(1979)
J. Mol. Biol.
, vol.132
, pp. 387-410
-
-
Olson, M.V.1
Loughney, K.2
Hall, B.D.3
-
41
-
-
0026440240
-
Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts
-
Kere, J., Nagaraja, R., Mumm, S., Ciccodicola, A., D'Urso, M. and Schlessinger, D. (1992) Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts. Genomics 14, 241-248.
-
(1992)
Genomics
, vol.14
, pp. 241-248
-
-
Kere, J.1
Nagaraja, R.2
Mumm, S.3
Ciccodicola, A.4
D'Urso, M.5
Schlessinger, D.6
-
42
-
-
0028169989
-
Regional localization of 725 human chromosome 7-specific yeast artificial chromosome (YAC) clones
-
Kunz, J., Scherer, S.W. , Klawitz. I., Soder, S., Du, Y.-Z., Speich, N., Kalff-Suske, M., Heng, H. H.Q., Tsui, L.-C., and Grzeschik, K.-H. (1994) Regional localization of 725 human chromosome 7-specific yeast artificial chromosome (YAC) clones. Genomics 22, 439-448.
-
(1994)
Genomics
, vol.22
, pp. 439-448
-
-
Kunz, J.1
Scherer, S.W.2
Klawitz, I.3
Soder, S.4
Du, Y.-Z.5
Speich, N.6
Kalff-Suske, M.7
Heng, H.H.Q.8
Tsui, L.-C.9
Grzeschik, K.-H.10
-
43
-
-
0002498561
-
-
Hochschwender, and Gardiner, K. (eds) Plenum Press
-
Rommens, J.M., Mar, L., McArthur, J, Tsui, L.-C. and Scherer, S.W. (1994)In Hochschwender, and Gardiner, K. (eds) The Identification of Transcribed Sequences, Plenum Press, pp. 65-79.
-
(1994)
The Identification of Transcribed Sequences
, pp. 65-79
-
-
Rommens, J.M.1
Mar, L.2
McArthur, J.3
Tsui, L.-C.4
Scherer, S.W.5
-
44
-
-
0004136246
-
-
Cold Spring Harbour Laboratory Press, Cold Spring Harbour, NY
-
Sambrook, J., Fritsch, E.F. and Maniatis, T (1989) Molecular Cloning: A Laboratory Manual. Cold Spring Harbour Laboratory Press, Cold Spring Harbour, NY.
-
(1989)
Molecular Cloning: A Laboratory Manual
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
46
-
-
0025183708
-
Basic local alignment search tool
-
Altschul, S.F., Gish, W., Miller, W. and Lipman, D.J. (1990) Basic local alignment search tool. J. Mol. Biol. 215, 403-410.
-
(1990)
J. Mol. Biol.
, vol.215
, pp. 403-410
-
-
Altschul, S.F.1
Gish, W.2
Miller, W.3
Lipman, D.J.4
-
47
-
-
0026351408
-
Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach
-
Uberbacher, E. C. and Mural, R. J. (1991) Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. Natl. Acad. Sci. USA 88, 11261-11265.
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 11261-11265
-
-
Uberbacher, E.C.1
Mural, R.J.2
-
48
-
-
0026879663
-
Cloning of the Huntington disease region in yeast artificial chromosomes
-
Zuo, J., Robbin, C., Taillon-Miller, P., Cox, D.R. and Myers, R.M. (1992) Cloning of the Huntington disease region in yeast artificial chromosomes. Hum. mol. Genet. 1, 149-159.
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 149-159
-
-
Zuo, J.1
Robbin, C.2
Taillon-Miller, P.3
Cox, D.R.4
Myers, R.M.5
-
49
-
-
0029946543
-
A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito
-
Toriello, H.V., Glover, T.W., Takahara, K., Byers, P.H., Miller, D.E., Higgins, J. V. and Greenspan, D.S. (1996) A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. Nature Genet. 13, 361-365.
-
(1996)
Nature Genet.
, vol.13
, pp. 361-365
-
-
Toriello, H.V.1
Glover, T.W.2
Takahara, K.3
Byers, P.H.4
Miller, D.E.5
Higgins, J.V.6
Greenspan, D.S.7
-
50
-
-
0016062462
-
Somatic cell hybrids between mouse peritoneal macrophages and SV40 transformed human cells. 1. Positive control of the transformed phenotype by the human chromosome 7 carrying the SV40 genome
-
Croce, C.M. and Koprowski, H. (1974) Somatic cell hybrids between mouse peritoneal macrophages and SV40 transformed human cells. 1. Positive control of the transformed phenotype by the human chromosome 7 carrying the SV40 genome. J. Exp. Med. 139, 1350-1353.
-
(1974)
J. Exp. Med.
, vol.139
, pp. 1350-1353
-
-
Croce, C.M.1
Koprowski, H.2
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