-
2
-
-
0002399434
-
Hirschsprung disease
-
Scriver C.S., et al. (Ed), McGraw-Hill, New York
-
Chakravarti A., and Lyonnet S. Hirschsprung disease. In: Scriver C.S., et al. (Ed). The metabolic and molecular bases of inherited disease (2002), McGraw-Hill, New York 6231-6255
-
(2002)
The metabolic and molecular bases of inherited disease
, pp. 6231-6255
-
-
Chakravarti, A.1
Lyonnet, S.2
-
3
-
-
33751079621
-
A complex additive model of inheritance for HSCR is supported by both RET mutations and predisposing RET haplotypes
-
Ruiz-Ferrer M., Fernandez R.M., Antiñolo G., et al. A complex additive model of inheritance for HSCR is supported by both RET mutations and predisposing RET haplotypes. Genet Med 8 (2006) 704-710
-
(2006)
Genet Med
, vol.8
, pp. 704-710
-
-
Ruiz-Ferrer, M.1
Fernandez, R.M.2
Antiñolo, G.3
-
4
-
-
17144373665
-
Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249
-
Fernandez R.M., Boru G., Pecina A., et al. Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249. J Med Genet 42 (2005) 322-327
-
(2005)
J Med Genet
, vol.42
, pp. 322-327
-
-
Fernandez, R.M.1
Boru, G.2
Pecina, A.3
-
5
-
-
13444311533
-
A common haplotype at the 5¢ end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression
-
Griseri P., Bachetti T., Puppo F., et al. A common haplotype at the 5¢ end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression. Hum Mutat 25 (2005) 189-195
-
(2005)
Hum Mutat
, vol.25
, pp. 189-195
-
-
Griseri, P.1
Bachetti, T.2
Puppo, F.3
-
6
-
-
19944430369
-
TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease
-
Garcia-Barcelo M., Ganster R.W., Lui V.C., et al. TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease. Hum Mol Genet 14 (2005) 191-204
-
(2005)
Hum Mol Genet
, vol.14
, pp. 191-204
-
-
Garcia-Barcelo, M.1
Ganster, R.W.2
Lui, V.C.3
-
7
-
-
20244382845
-
Identifying candidate Hirschsprung disease-associated RET variants
-
Burzynski G.M., Nolte I.M., Bronda A., et al. Identifying candidate Hirschsprung disease-associated RET variants. Am J Hum Genet 76 (2005) 850-858
-
(2005)
Am J Hum Genet
, vol.76
, pp. 850-858
-
-
Burzynski, G.M.1
Nolte, I.M.2
Bronda, A.3
-
8
-
-
29644443837
-
Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease
-
Pelet A., de Pontual L., Clement-Ziza M., et al. Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease. J Med Genet 42 (2005) e18
-
(2005)
J Med Genet
, vol.42
-
-
Pelet, A.1
de Pontual, L.2
Clement-Ziza, M.3
-
9
-
-
0347480303
-
Neurotrophin-3 in the development of enteric nervous system
-
Chalazonitis A. Neurotrophin-3 in the development of enteric nervous system. Prog Brain Res 146 (2004) 246-263
-
(2004)
Prog Brain Res
, vol.146
, pp. 246-263
-
-
Chalazonitis, A.1
-
10
-
-
0029843443
-
Alterations in neurotrophin and neurotrophin-receptor localization in Hirschsprung's disease
-
Hoehner J.C., Wester T., Pahlman S., et al. Alterations in neurotrophin and neurotrophin-receptor localization in Hirschsprung's disease. J Pediatr Surg 31 (1996) 1524-1529
-
(1996)
J Pediatr Surg
, vol.31
, pp. 1524-1529
-
-
Hoehner, J.C.1
Wester, T.2
Pahlman, S.3
-
11
-
-
0003541460
-
-
Dracapoli N.H., Haines J.L., and Korf B.R. (Eds), John Wiley & Sons, New York
-
In: Dracapoli N.H., Haines J.L., and Korf B.R. (Eds). Current protocols in human genetics (1994), John Wiley & Sons, New York
-
(1994)
Current protocols in human genetics
-
-
-
12
-
-
0024027151
-
Processing and secretion of nerve growth factor: expression in mammalian cells with a vaccinia virus vector
-
Edwards R.H., Selby M.J., Mobley W.C., et al. Processing and secretion of nerve growth factor: expression in mammalian cells with a vaccinia virus vector. Mol Cell Biol 8 (1998) 2456-2464
-
(1998)
Mol Cell Biol
, vol.8
, pp. 2456-2464
-
-
Edwards, R.H.1
Selby, M.J.2
Mobley, W.C.3
-
13
-
-
0025886159
-
Two conserved domains in the NGF propeptide are necessary and sufficient for the biosynthesis of correctly processed and biologically active NGF
-
Suter U., Heymach Jr. J.V., and Shooter E.M. Two conserved domains in the NGF propeptide are necessary and sufficient for the biosynthesis of correctly processed and biologically active NGF. EMBO J 10 (1991) 2395-2400
-
(1991)
EMBO J
, vol.10
, pp. 2395-2400
-
-
Suter, U.1
Heymach Jr., J.V.2
Shooter, E.M.3
-
14
-
-
33750353461
-
Predicting the effects of amino acid substitutions on protein function
-
Ng P.C., and Henikoff S. Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet 7 (2006) 61-80
-
(2006)
Annu Rev Genomics Hum Genet
, vol.7
, pp. 61-80
-
-
Ng, P.C.1
Henikoff, S.2
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