-
1
-
-
0014210694
-
The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families
-
Passarge, E. (1967) The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families. N. Engl. J. Med., 276, 138-143.
-
(1967)
N. Engl. J. Med.
, vol.276
, pp. 138-143
-
-
Passarge, E.1
-
2
-
-
0028138537
-
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease
-
Luo, Y., Barone, V., Seri, M., Bolino, A., Bocciardi, R., Ceccherini, I., Pasini, B., Toco, T., Lerone, M., Cywes, S., Moore, S., Vanderwinden, J. M., Abramowicz, M. J., Kristofferson, U., Larsson, L. T., Silengo, M., Martuciello, G. and Romeo, G. (1994) Heterogeneity and low detection rate of RET mutations in Hirschsprung disease. Eur. J. Hum. Genet., 2, 272-280.
-
(1994)
Eur. J. Hum. Genet.
, vol.2
, pp. 272-280
-
-
Luo, Y.1
Barone, V.2
Seri, M.3
Bolino, A.4
Bocciardi, R.5
Ceccherini, I.6
Pasini, B.7
Toco, T.8
Lerone, M.9
Cywes, S.10
Moore, S.11
Vanderwinden, J.M.12
Abramowicz, M.J.13
Kristofferson, U.14
Larsson, L.T.15
Silengo, M.16
Martuciello, G.17
Romeo, G.18
-
3
-
-
0029119781
-
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
-
Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., Amiel, J., Boutran, L., Beldjord, C., Nihoul-Fékété, C., Munnich, A., Ponder, B. A. J. and Lyonnet, S. (1995) Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum. Mol. Genet., 4, 1381-1386.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1381-1386
-
-
Attie, T.1
Pelet, A.2
Edery, P.3
Eng, C.4
Mulligan, L.M.5
Amiel, J.6
Boutran, L.7
Beldjord, C.8
Nihoul-Fékété, C.9
Munnich, A.10
Ponder, B.A.J.11
Lyonnet, S.12
-
4
-
-
0029069528
-
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease
-
Angrist, M., Bolk, S., Thiel, B., Puffenberger, E. G., Hofstra, R. M., Buys, C. H. C. M., Cass, D. T. and Chakravarti, A. (1995) Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum. Mol. Genet., 4, 821-830.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 821-830
-
-
Angrist, M.1
Bolk, S.2
Thiel, B.3
Puffenberger, E.G.4
Hofstra, R.M.5
Buys, C.H.C.M.6
Cass, D.T.7
Chakravarti, A.8
-
5
-
-
0030029691
-
Endothelin receptor-mediated signaling in Hirschsprung disease
-
Chakravarti, A. (1996) Endothelin receptor-mediated signaling in Hirschsprung disease. Hum. Mol. Genet., 5, 303-307.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 303-307
-
-
Chakravarti, A.1
-
6
-
-
0006457459
-
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
-
Edery, P., Attié, T., Amiel, J., Pelet, A., Eng, C., Hofstra, R. M. W., Martelli, H., Bidaud, C., Munnich, A. and Lyonnet, S. (1996) Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nature Genet., 12, 442-444.
-
(1996)
Nature Genet.
, vol.12
, pp. 442-444
-
-
Edery, P.1
Attié, T.2
Amiel, J.3
Pelet, A.4
Eng, C.5
Hofstra, R.M.W.6
Martelli, H.7
Bidaud, C.8
Munnich, A.9
Lyonnet, S.10
-
7
-
-
0009675716
-
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
-
Hofstra, R. M. W., Osinga, J., Tan-Sindhunata, G., Wu, Y., Kamsteeg, E.-J., Stulp, R. P., van Ravenswaaij-Arts, C., Majoor-Krakauer, D., Angrist, M., Chakravarti, A., Meijers, C. and Buys, C. H. C. M. (1996) A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nature Genet., 12, 445-447.
-
(1996)
Nature Genet.
, vol.12
, pp. 445-447
-
-
Hofstra, R.M.W.1
Osinga, J.2
Tan-Sindhunata, G.3
Wu, Y.4
Kamsteeg, E.-J.5
Stulp, R.P.6
Van Ravenswaaij-Arts, C.7
Majoor-Krakauer, D.8
Angrist, M.9
Chakravarti, A.10
Meijers, C.11
Buys, C.H.C.M.12
-
8
-
-
15844365303
-
GDNF-induced activation of the Ret protein lyrosine kinase is mediated by GDNFR-α, a novel receptor for GDNF
-
Jing, S., Wen, D., Yu, Y. Holst, P. L., Luo, Y., Fang, M., Tamir, R., Antonio, L., Hu, Z., Cupples, R., Louis, J.-C., Hu, S., Altrock, B. W. and Fox, G. M. (1996) GDNF-induced activation of the Ret protein lyrosine kinase is mediated by GDNFR-α, a novel receptor for GDNF. Cell, 85, 1113-1124.
-
(1996)
Cell
, vol.85
, pp. 1113-1124
-
-
Jing, S.1
Wen, D.2
Yu, Y.3
Holst, P.L.4
Luo, Y.5
Fang, M.6
Tamir, R.7
Antonio, L.8
Hu, Z.9
Cupples, R.10
Louis, J.-C.11
Hu, S.12
Altrock, B.W.13
Fox, G.M.14
-
9
-
-
15844418441
-
Characterization of a multicomponent receptor for GDNF
-
Treanor, J. J. S., Goodman, L., de Sauvage, F., Stone, D. M., Poulsen, K. T., Beck, C. D., Gray, C., Armanini, M. P., Pollock, R. A., Hefti, F., Phillips, H. S., Goddard, A., Moore, M. W., Buj-Bello, A., Davies, A. M., Asai, N., Takahashi, M., Vandlen, R., Henderson, C. E. and Rosenthal, A. (1996) Characterization of a multicomponent receptor for GDNF. Nature, 382, 80-83.
-
(1996)
Nature
, vol.382
, pp. 80-83
-
-
Treanor, J.J.S.1
Goodman, L.2
De Sauvage, F.3
Stone, D.M.4
Poulsen, K.T.5
Beck, C.D.6
Gray, C.7
Armanini, M.P.8
Pollock, R.A.9
Hefti, F.10
Phillips, H.S.11
Goddard, A.12
Moore, M.W.13
Buj-Bello, A.14
Davies, A.M.15
Asai, N.16
Takahashi, M.17
Vandlen, R.18
Henderson, C.E.19
Rosenthal, A.20
more..
-
10
-
-
0028174023
-
Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor
-
Schuchardt, A., D'Agati, V., Larsson-Blomberg, L., Costantini, F. and Pachnis, V. (1994) Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature, 367, 380-383.
-
(1994)
Ret. Nature
, vol.367
, pp. 380-383
-
-
Schuchardt, A.1
D'Agati, V.2
Larsson-Blomberg, L.3
Costantini, F.4
Pachnis, V.5
-
11
-
-
15844426332
-
Defects in enteric innervation and kidney development in mice lacking GDNF
-
Pichel, J. G., Shen, L., Sheng, H. Z., Granholm, A.-C., Drago, J., Grinberg, A., Lee, E. J., Huang, S. P., Saarma, M., Hoffer, B. J., Sariola, H. and Westphal, H. (1996) Defects in enteric innervation and kidney development in mice lacking GDNF. Nature, 382, 73-76.
-
(1996)
Nature
, vol.382
, pp. 73-76
-
-
Pichel, J.G.1
Shen, L.2
Sheng, H.Z.3
Granholm, A.-C.4
Drago, J.5
Grinberg, A.6
Lee, E.J.7
Huang, S.P.8
Saarma, M.9
Hoffer, B.J.10
Sariola, H.11
Westphal, H.12
-
12
-
-
15844384629
-
Renal and neuronal abnormalities in mice lacking GDNF
-
Moore, M. W., Klein, R. D., Farinas, I., Sauer, H., Armanini, M., Phillips, H., Reichardt, L. F., Ryan, A. M., Carver-Moore, K. and Rosenthal, A. (1996) Renal and neuronal abnormalities in mice lacking GDNF. Nature, 382, 76-79.
-
(1996)
Nature
, vol.382
, pp. 76-79
-
-
Moore, M.W.1
Klein, R.D.2
Farinas, I.3
Sauer, H.4
Armanini, M.5
Phillips, H.6
Reichardt, L.F.7
Ryan, A.M.8
Carver-Moore, K.9
Rosenthal, A.10
-
13
-
-
0029901727
-
Renal agenesis and the absence of enteric neurons in mice lacking GDNF
-
Sánchez, M.P., Silos-Santiago, I., Frisén, J., He, B., Lira, S.A. and Barbacid, M. (1996) Renal agenesis and the absence of enteric neurons in mice lacking GDNF. Nature, 382, 70-73.
-
(1996)
Nature
, vol.382
, pp. 70-73
-
-
Sánchez, M.P.1
Silos-Santiago, I.2
Frisén, J.3
He, B.4
Lira, S.A.5
Barbacid, M.6
-
14
-
-
0028329089
-
Hirschsprung's disease associated with a deletion of chromosome 10(q11.2q21.2): A further link with the neurocristopathies?
-
Fewtrell, M. S., Tam, P. K. H., Thomson, A. H., Fitchett, M., Currie, J., Huson, S. M. and Mulligan, L. M. (1994) Hirschsprung's disease associated with a deletion of chromosome 10(q11.2q21.2): a further link with the neurocristopathies? J. Med. Genet., 31, 325-327.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 325-327
-
-
Fewtrell, M.S.1
Tam, P.K.H.2
Thomson, A.H.3
Fitchett, M.4
Currie, J.5
Huson, S.M.6
Mulligan, L.M.7
-
15
-
-
16144368214
-
Germline mutations of the RET ligand, GDNF, are not sufficient to cause Hirschsprung disease
-
in press
-
Salomon, R., Attié, T., Pelet, A., Bidaud, C., Eng, C., Amiel, J., Sarnacki, S., Goulet, O., Ricour, C., Nihoul-Fékété, C., Munnich, A. and Lyonnet, S. (1996) Germline mutations of the RET ligand, GDNF, are not sufficient to cause Hirschsprung disease. Nature Genet., (in press).
-
(1996)
Nature Genet.
-
-
Salomon, R.1
Attié, T.2
Pelet, A.3
Bidaud, C.4
Eng, C.5
Amiel, J.6
Sarnacki, S.7
Goulet, O.8
Ricour, C.9
Nihoul-Fékété, C.10
Munnich, A.11
Lyonnet, S.12
-
16
-
-
0030024846
-
Embryonic expression of glial cell-line derived neurotrophic factor (GDNF) suggests multiple developmental roles in neural differentiation and epithelial-mesenchymal interactions
-
Hellmich, H.L., Kos, L., Cho, E.S., Mahon, K.A. and Zimmer, A. (1996) Embryonic expression of glial cell-line derived neurotrophic factor (GDNF) suggests multiple developmental roles in neural differentiation and epithelial-mesenchymal interactions. Mech. Dev., 54, 95-105.
-
(1996)
Mech. Dev.
, vol.54
, pp. 95-105
-
-
Hellmich, H.L.1
Kos, L.2
Cho, E.S.3
Mahon, K.A.4
Zimmer, A.5
-
17
-
-
0027285510
-
GDNF: A glial cell line-derived neurotrophic factor for midbrain dopaminergic neurons
-
Lin, L.-F.H., Doherty, D.H., Lile, J.D., Bektesh, S. and Collins. F. (1993) GDNF: a glial cell line-derived neurotrophic factor for midbrain dopaminergic neurons. Science, 260, 1130-1132.
-
(1993)
Science
, vol.260
, pp. 1130-1132
-
-
Lin, L.-F.H.1
Doherty, D.H.2
Lile, J.D.3
Bektesh, S.4
Collins, F.5
-
18
-
-
0029050368
-
Loss of function effect of RET mutations causing Hirschsprung disease
-
Pasini, B., Borrello, M. G., Greco, A., Bongarzone, I., Luo, Y., Mondellini, P., Alberti, L., Miranda, C., Arighi, E., Bocciardi, R., Sen, M., Barone, V., Radice, M. T., Romeo, G. and Pierotti, M. A. (1995) Loss of function effect of RET mutations causing Hirschsprung disease. Nature Genet., 10, 35-40.
-
(1995)
Nature Genet.
, vol.10
, pp. 35-40
-
-
Pasini, B.1
Borrello, M.G.2
Greco, A.3
Bongarzone, I.4
Luo, Y.5
Mondellini, P.6
Alberti, L.7
Miranda, C.8
Arighi, E.9
Bocciardi, R.10
Sen, M.11
Barone, V.12
Radice, M.T.13
Romeo, G.14
Pierotti, M.A.15
-
19
-
-
0028199074
-
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC
-
Mulligan, L. M., Eng, C., Healey, C. S., Clayton, D., Kwok, J. B. J., Gardner, E., Ponder, M. A., Frilling, A., Jackson, C. E., Lehnert, H., Neumann, H. P. H., Thibodeau, S. N. and Ponder, B. A. J. (1994) Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nature Genet., 6, 70-74.
-
(1994)
Nature Genet.
, vol.6
, pp. 70-74
-
-
Mulligan, L.M.1
Eng, C.2
Healey, C.S.3
Clayton, D.4
Kwok, J.B.J.5
Gardner, E.6
Ponder, M.A.7
Frilling, A.8
Jackson, C.E.9
Lehnert, H.10
Neumann, H.P.H.11
Thibodeau, S.N.12
Ponder, B.A.J.13
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