-
2
-
-
0024212119
-
Chromosornal localisation of a developmental gene in man: Direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13
-
Brueton,L., Huson,S.M., Winter,R.M. and Williamson,R. (1988)Chromosornal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13. Am. J. Med. Genet., 31, 799-804.
-
(1988)
Am. J. Med. Genet.
, vol.31
, pp. 799-804
-
-
Brueton, L.1
Huson, S.M.2
Winter, R.M.3
Williamson, R.4
-
3
-
-
0025812172
-
GLI3 zinc finger gene interrupted by translocations in Greig syndrome families
-
Vortkamp,A., Gessler,M. and Grzeschik,K.-H. (1991) GLI3 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
-
4
-
-
0025247113
-
Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: Hemizygosity for PGAM2 and TCRG genes
-
Wagner,K., Kroisel,P. and Rosenkranz,W. (1990) Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: hemizygosity for PGAM2 and TCRG genes. Genomics, 8, 487-491.
-
(1990)
Genomics
, vol.8
, pp. 487-491
-
-
Wagner, K.1
Kroisel, P.2
Rosenkranz, W.3
-
5
-
-
0024243968
-
Greig cephalopolysyndactyly syndrome: A possible mouse homologue (Xt-extra toes)
-
Winter,R.M. and Huson,S.M. (1988) Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes). Am. J. Med. Genet., 31, 793-798.
-
(1988)
Am. J. Med. Genet.
, vol.31
, pp. 793-798
-
-
Winter, R.M.1
Huson, S.M.2
-
6
-
-
0026469401
-
Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt)
-
Vortkamp,A., Franz,T., Gessler,M. and Grzeschik,K.-H. (1992) Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt). Mamm. Genome, 3, 461-463.
-
(1992)
Mamm. Genome
, vol.3
, pp. 461-463
-
-
Vortkamp, A.1
Franz, T.2
Gessler, M.3
Grzeschik, K.-H.4
-
7
-
-
0027478216
-
J mutation contains an intragenic deletion of the Gli3 gene
-
J mutation contains an intragenic deletion of the Gli3 gene. Nature Genet., 3, 241-245.
-
(1993)
Nature Genet.
, vol.3
, pp. 241-245
-
-
Hui, C.-C.1
Joyner, A.L.2
-
8
-
-
0025172883
-
GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity
-
Ruppert,J.M., Vogelstein,B., Arheden,K. and Kinzler,K.W. (1990) GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity. Mol. Cell. Biol., 10, 5408-5415.
-
(1990)
Mol. Cell. Biol.
, vol.10
, pp. 5408-5415
-
-
Ruppert, J.M.1
Vogelstein, B.2
Arheden, K.3
Kinzler, K.W.4
-
9
-
-
0028821386
-
Isolation and characterization of a cosmid contig for the GCPS gene region
-
Vortkamp,A., Heid,C., Gessler,M. and Grzeschik,K.-H. (1995) Isolation and characterization of a cosmid contig for the GCPS gene region. Hum. Genet., 95, 82-88.
-
(1995)
Hum. Genet.
, vol.95
, pp. 82-88
-
-
Vortkamp, A.1
Heid, C.2
Gessler, M.3
Grzeschik, K.-H.4
-
10
-
-
0023822638
-
The GLI-Krueppel family of human genes
-
Ruppert,J.M., Kinzler,K.W., Wong,A.J., Bigner,S.H., Kao,F.T., Law,M.L., Seuanez,H.N., O'Brien,S.J. and Vogelstein,B. (1988) The GLI-Krueppel family of human genes. Mol. Cell. biol., 8, 3104-3113.
-
(1988)
Mol. Cell. Biol.
, vol.8
, pp. 3104-3113
-
-
Ruppert, J.M.1
Kinzler, K.W.2
Wong, A.J.3
Bigner, S.H.4
Kao, F.T.5
Law, M.L.6
Seuanez, H.N.7
O'Brien, S.J.8
Vogelstein, B.9
-
11
-
-
0031019090
-
GLI3 frame-shift mutations cause autosomal dominant Pallister-Hall syndrome
-
Kang,S., Graham,J.M., Olney,A.H. and Biesecker,L.G. (1997) GLI3 frame-shift mutations cause autosomal dominant Pallister-Hall syndrome. Nature Genet., 15, 266-268.
-
(1997)
Nature Genet.
, vol.15
, pp. 266-268
-
-
Kang, S.1
Graham, J.M.2
Olney, A.H.3
Biesecker, L.G.4
-
12
-
-
0031018457
-
Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis
-
Radhakrishna,U. et al. (1997) Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis. Am. J. Hum. Genet., 60, 597-604.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 597-604
-
-
Radhakrishna, U.1
-
13
-
-
0027165150
-
The mitogen-activated protein kinase signal transduction pathway
-
Davis,R.J. (1993) The mitogen-activated protein kinase signal transduction pathway. J. Biol. Chem., 268, 14553-14556.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 14553-14556
-
-
Davis, R.J.1
-
14
-
-
0030598891
-
Serpentine proteins slither into the windless and hedgehog fields
-
Perrimon,N. (1996) Serpentine proteins slither into the windless and hedgehog fields. Cell, 86, 513-516.
-
(1996)
Cell
, vol.86
, pp. 513-516
-
-
Perrimon, N.1
-
15
-
-
0030602796
-
The Drosophila smoothened gene encodes a seven-pass membrane protein, a putative receptor for the hedgehog signal
-
Alcedo,J., Ayzenzon,M., Von Ohlen,T., Noll,M. and Hooper,J.E. (1996) The Drosophila smoothened gene encodes a seven-pass membrane protein, a putative receptor for the hedgehog signal. Cell, 86, 221-232.
-
(1996)
Cell
, vol.86
, pp. 221-232
-
-
Alcedo, J.1
Ayzenzon, M.2
Von Ohlen, T.3
Noll, M.4
Hooper, J.E.5
-
16
-
-
0029979608
-
Control of the gene optomotor-blind in Drosophila wing development by decapentaplegic and wingless
-
Grimm,S. and Pflugfelder,G.O. (1996) Control of the gene optomotor-blind in Drosophila wing development by decapentaplegic and wingless. Science, 271, 1601-1604.
-
(1996)
Science
, vol.271
, pp. 1601-1604
-
-
Grimm, S.1
Pflugfelder, G.O.2
-
17
-
-
0029896212
-
Sending and receiving the hedgehog signal: Control by the Drosophila Gli protein Cubitus interruptus
-
Dominguez,M., Brunner,M., Hafen,E. and Basler,KM. (1996) Sending and receiving the hedgehog signal: control by the Drosophila Gli protein Cubitus interruptus. Science, 272, 1621-1625.
-
(1996)
Science
, vol.272
, pp. 1621-1625
-
-
Dominguez, M.1
Brunner, M.2
Hafen, E.3
Basler, K.M.4
-
18
-
-
0030027059
-
Conservation of the hedgehoglpatched signaling pathway from flies to mice: Induction of a mouse patched gene by hedgehog
-
Goodrich,L.V., Johnson,R.L., Milenkovic,L., McMahon,J.A. and Scott,P.M. (1996) Conservation of the hedgehoglpatched signaling pathway from flies to mice: induction of a mouse patched gene by hedgehog. Genes Dev., 10, 301-312.
-
(1996)
Genes Dev.
, vol.10
, pp. 301-312
-
-
Goodrich, L.V.1
Johnson, R.L.2
Milenkovic, L.3
McMahon, J.A.4
Scott, P.M.5
-
19
-
-
15844386165
-
Mutations in the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome
-
Hahn,H., Wicking,C., Zaphiropoulos,P.G., Gailani,M.R., Shanley,S., Chidambaram,A., Vorechovsky,I., Holmberg,E., Unden,A.B., Gillies,S., Negus,K., Smyth,I., Pressman,C., Leffell,D.J., Gerrard,B., Goldstein,A.M., Dean,M., Toftgard,R., Chevenix-Trench,G., Wainwright,B. and Bide,A.E. (1996) Mutations in the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell, 85, 841-851.
-
(1996)
Cell
, vol.85
, pp. 841-851
-
-
Hahn, H.1
Wicking, C.2
Zaphiropoulos, P.G.3
Gailani, M.R.4
Shanley, S.5
Chidambaram, A.6
Vorechovsky, I.7
Holmberg, E.8
Unden, A.B.9
Gillies, S.10
Negus, K.11
Smyth, I.12
Pressman, C.13
Leffell, D.J.14
Gerrard, B.15
Goldstein, A.M.16
Dean, M.17
Toftgard, R.18
Chevenix-Trench, G.19
Wainwright, B.20
Bide, A.E.21
more..
-
20
-
-
15844381336
-
Human homolog of patched, a candidate gene for the basal cell nevus syndrome
-
Johnson,R.L., Rothman,A.L., Xie,J., Goodrich,L.V., Bare,J.W., Bonifas,J.M., Quinn,A.G., Myers,R.M., Cox,D.R., Epstein,E.H. and Scott,M.P. (1996) Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science, 272, 1668-1671.
-
(1996)
Science
, vol.272
, pp. 1668-1671
-
-
Johnson, R.L.1
Rothman, A.L.2
Xie, J.3
Goodrich, L.V.4
Bare, J.W.5
Bonifas, J.M.6
Quinn, A.G.7
Myers, R.M.8
Cox, D.R.9
Epstein, E.H.10
Scott, M.P.11
-
21
-
-
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
-
22
-
-
0030901264
-
Drosophila CBP is a co-activator of cubitus interruptus in hedgehog signalling
-
Akimaru,H., Chen,Y, Dai,P., Hou,D.X., Nonaka,M., Smolik,S.M., Armstrong,S., Goodman,R.H. and Ishii,S. (1997) Drosophila CBP is a co-activator of cubitus interruptus in hedgehog signalling. Nature, 386, 735-738.
-
(1997)
Nature
, vol.386
, pp. 735-738
-
-
Akimaru, H.1
Chen, Y.2
Dai, P.3
Hou, D.X.4
Nonaka, M.5
Smolik, S.M.6
Armstrong, S.7
Goodman, R.H.8
Ishii, S.9
-
23
-
-
0029022770
-
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
-
Petrij,E, Giles,R.H., Dauwerse,H.G., Saris,J.J., Hennekam,R.C., Masuno,M., Tommerup,N., van Ommen,G.J., Goodman,R.H., Peters,D.J. and Breuning,M.H. (1995) Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature, 376, 348-351.
-
(1995)
Nature
, vol.376
, pp. 348-351
-
-
Petrij, E.1
Giles, R.H.2
Dauwerse, H.G.3
Saris, J.J.4
Hennekam, R.C.5
Masuno, M.6
Tommerup, N.7
Van Ommen, G.J.8
Goodman, R.H.9
Peters, D.J.10
Breuning, M.H.11
-
24
-
-
0029746491
-
Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva
-
Shafritz,A.B., Shore,E.M., Gannon,F.H., Zasloff,M.A., Taub,R., Muenke,M. and Kaplan,F.S. (1996) Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva. New Engl. J. Med., 335, 555-561.
-
(1996)
New Engl. J. Med.
, vol.335
, pp. 555-561
-
-
Shafritz, A.B.1
Shore, E.M.2
Gannon, F.H.3
Zasloff, M.A.4
Taub, R.5
Muenke, M.6
Kaplan, F.S.7
-
25
-
-
0029795154
-
Report from the workshop on Pallister-Hall syndrome and related phenotypes
-
Biesecker,L.G., Abbott,M., Allen,J., Clericuzio,C., Feuillan,P., Graham,J.M.,Jr, Hall,J., Kang,S., Olney,A.H., Lefton,D., Neri,G., Peters,K. and Verloes,A. (1996) Report from the workshop on Pallister-Hall syndrome and related phenotypes. Am. J. Med. Genet., 65, 76-81.
-
(1996)
Am. J. Med. Genet.
, vol.65
, pp. 76-81
-
-
Biesecker, L.G.1
Abbott, M.2
Allen, J.3
Clericuzio, C.4
Feuillan, P.5
Graham Jr., J.M.6
Hall, J.7
Kang, S.8
Olney, A.H.9
Lefton, D.10
Neri, G.11
Peters, K.12
Verloes, A.13
-
26
-
-
0024756969
-
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
-
Orita,M., Suzuki,Y, Sekiya,T. and Hayashi,K. (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics, 5, 874-879.
-
(1989)
Genomics
, vol.5
, pp. 874-879
-
-
Orita, M.1
Suzuki, Y.2
Sekiya, T.3
Hayashi, K.4
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