-
1
-
-
0034764984
-
Hirschsprung disease, associated syndromes, and genetics: a review
-
Amiel J., and Lyonnet S. Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet 38 (2001) 729-739
-
(2001)
J Med Genet
, vol.38
, pp. 729-739
-
-
Amiel, J.1
Lyonnet, S.2
-
2
-
-
0029069528
-
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung's disease
-
Angrist M., Bolk S., Thiel B., et al. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung's disease. Hum Mol Genet 4 (1995) 821-830
-
(1995)
Hum Mol Genet
, vol.4
, pp. 821-830
-
-
Angrist, M.1
Bolk, S.2
Thiel, B.3
-
3
-
-
1542438600
-
Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype
-
Garcia-Barcelo M.M., Sham M.H., Lui V.C., et al. Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype. J Med Genet 40 (2003) e122
-
(2003)
J Med Genet
, vol.40
-
-
Garcia-Barcelo, M.M.1
Sham, M.H.2
Lui, V.C.3
-
4
-
-
1642574220
-
Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease
-
Garcia-Barcelo M.M., Sham M.H., Lee W.S., et al. Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease. Clin Chem 50 (2004) 93-100
-
(2004)
Clin Chem
, vol.50
, pp. 93-100
-
-
Garcia-Barcelo, M.M.1
Sham, M.H.2
Lee, W.S.3
-
5
-
-
0027998471
-
Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus
-
Edery P., Pelet A., Mulligan L.M., et al. Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus. J Med Genet 31 (1994) 602-606
-
(1994)
J Med Genet
, vol.31
, pp. 602-606
-
-
Edery, P.1
Pelet, A.2
Mulligan, L.M.3
-
7
-
-
0028069130
-
Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22
-
Puffenberger E.G., Kauffman E.R., Bolk S., et al. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet 3 (1994) 1217-1225
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1217-1225
-
-
Puffenberger, E.G.1
Kauffman, E.R.2
Bolk, S.3
-
8
-
-
0028618372
-
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
-
Puffenberger E.G., Hosoda K., Washington S.S., et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79 (1994) 1257-1266
-
(1994)
Cell
, vol.79
, pp. 1257-1266
-
-
Puffenberger, E.G.1
Hosoda, K.2
Washington, S.S.3
-
9
-
-
0035882261
-
Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13
-
Shanske A., Ferreira J.C., Leonard J.C., et al. Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13. Am J Med Genet 102 (2001) 231-236
-
(2001)
Am J Med Genet
, vol.102
, pp. 231-236
-
-
Shanske, A.1
Ferreira, J.C.2
Leonard, J.C.3
-
10
-
-
0033518175
-
The temporal requirement for endothelin receptor-B signalling during neural crest development
-
Shin M.K., Levorse J.M., Ingram R.S., et al. The temporal requirement for endothelin receptor-B signalling during neural crest development. Nature 402 (1999) 496-501
-
(1999)
Nature
, vol.402
, pp. 496-501
-
-
Shin, M.K.1
Levorse, J.M.2
Ingram, R.S.3
-
11
-
-
0037031853
-
Two novel transcripts for human endothelin B receptor produced by RNA editing/alternative splicing from a single gene
-
Tanoue A., Koshimizu T.A., Tsuchiya M., et al. Two novel transcripts for human endothelin B receptor produced by RNA editing/alternative splicing from a single gene. J Biol Chem 277 (2002) 33205-33212
-
(2002)
J Biol Chem
, vol.277
, pp. 33205-33212
-
-
Tanoue, A.1
Koshimizu, T.A.2
Tsuchiya, M.3
-
12
-
-
0032079479
-
Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization
-
Tanaka H., Moroi K., Iwai J., et al. Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization. J Biol Chem 273 (1998) 11378-11383
-
(1998)
J Biol Chem
, vol.273
, pp. 11378-11383
-
-
Tanaka, H.1
Moroi, K.2
Iwai, J.3
-
13
-
-
0346337013
-
Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung's disease
-
Duan X.L., Zhang X.S., and Li G.W. Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung's disease. World J Gastroenterol 9 (2003) 2839-2842
-
(2003)
World J Gastroenterol
, vol.9
, pp. 2839-2842
-
-
Duan, X.L.1
Zhang, X.S.2
Li, G.W.3
-
14
-
-
0034092852
-
Japanese patients with sporadic Hirschsprung: mutation analysis of the receptor tyrosine kinase proto-oncogene, endothelin-B receptor, endothelin-3, glial cell line-derived neurotrophic factor and neurturin genes: a comparison with similar studies
-
Sakai T., Nirasawa Y., Itoh Y., et al. Japanese patients with sporadic Hirschsprung: mutation analysis of the receptor tyrosine kinase proto-oncogene, endothelin-B receptor, endothelin-3, glial cell line-derived neurotrophic factor and neurturin genes: a comparison with similar studies. Eur J Pediatr 159 (2000) 160-167
-
(2000)
Eur J Pediatr
, vol.159
, pp. 160-167
-
-
Sakai, T.1
Nirasawa, Y.2
Itoh, Y.3
-
15
-
-
0032897402
-
Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden
-
Svensson P.J., Tapper-Persson M., Anvret M., et al. Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden. Clin Genet 55 (1999) 215-217
-
(1999)
Clin Genet
, vol.55
, pp. 215-217
-
-
Svensson, P.J.1
Tapper-Persson, M.2
Anvret, M.3
-
16
-
-
0033739538
-
Genetics of Hirschsprung disease
-
Parisi M.A., and Kapur R.P. Genetics of Hirschsprung disease. Curr Opin Pediatr 12 (2000) 610-617
-
(2000)
Curr Opin Pediatr
, vol.12
, pp. 610-617
-
-
Parisi, M.A.1
Kapur, R.P.2
-
17
-
-
0035035064
-
Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease
-
Gath R., Goessling A., Keller K.M., et al. Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease. Gut 48 (2001) 671-675
-
(2001)
Gut
, vol.48
, pp. 671-675
-
-
Gath, R.1
Goessling, A.2
Keller, K.M.3
-
18
-
-
2542554327
-
Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity
-
Sutton I.J., Last J.I., Ritchie S.J., et al. Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity. Ann Neurol 55 (2004) 891-895
-
(2004)
Ann Neurol
, vol.55
, pp. 891-895
-
-
Sutton, I.J.1
Last, J.I.2
Ritchie, S.J.3
-
19
-
-
0039108539
-
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences
-
Teraoka S.N., Telatar M., Becker-Catania S., et al. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Am J Hum Genet 64 (1999) 1617-1631
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1617-1631
-
-
Teraoka, S.N.1
Telatar, M.2
Becker-Catania, S.3
-
20
-
-
0036201584
-
Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype
-
Ishii S., Nakao S., Minamikawa-Tachino R., et al. Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am J Hum Genet 70 (2002) 994-1002
-
(2002)
Am J Hum Genet
, vol.70
, pp. 994-1002
-
-
Ishii, S.1
Nakao, S.2
Minamikawa-Tachino, R.3
-
21
-
-
18144376312
-
A 5′ intronic splice site polymorphism leads to a null allele of the P2X7 gene in 1-2% of the Caucasian population
-
Skarratt K.K., Fuller S.J., Sluyter R., et al. A 5′ intronic splice site polymorphism leads to a null allele of the P2X7 gene in 1-2% of the Caucasian population. FEBS Lett 579 (2005) 2675-2678
-
(2005)
FEBS Lett
, vol.579
, pp. 2675-2678
-
-
Skarratt, K.K.1
Fuller, S.J.2
Sluyter, R.3
-
22
-
-
2442646336
-
Interaction between hex and GATA transcription factors in vascular endothelial cells inhibits flk-1/KDR-mediated vascular endothelial growth factor signaling
-
Minami T., Murakami T., Horiuchi K., et al. Interaction between hex and GATA transcription factors in vascular endothelial cells inhibits flk-1/KDR-mediated vascular endothelial growth factor signaling. J Biol Chem 279 (2004) 20626-20635
-
(2004)
J Biol Chem
, vol.279
, pp. 20626-20635
-
-
Minami, T.1
Murakami, T.2
Horiuchi, K.3
-
23
-
-
0030999645
-
The LIM-only protein Lmo2 is a bridging molecule assembling an erythroid, DNA-binding complex which includes the TAL1, E47, GATA-1 and Ldb1/NLI proteins
-
Wadman I.A., Osada H., Grutz G.G., et al. The LIM-only protein Lmo2 is a bridging molecule assembling an erythroid, DNA-binding complex which includes the TAL1, E47, GATA-1 and Ldb1/NLI proteins. EMBO J 16 (1997) 3145-3157
-
(1997)
EMBO J
, vol.16
, pp. 3145-3157
-
-
Wadman, I.A.1
Osada, H.2
Grutz, G.G.3
-
24
-
-
0034785352
-
Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease
-
Rioux J.D., Daly M.J., Silverberg M.S., et al. Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nat Genet 29 (2001) 223-228
-
(2001)
Nat Genet
, vol.29
, pp. 223-228
-
-
Rioux, J.D.1
Daly, M.J.2
Silverberg, M.S.3
-
25
-
-
0037173639
-
Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness
-
Van Eerdewegh P., Little R.D., Dupuis J., et al. Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature 418 (2002) 426-430
-
(2002)
Nature
, vol.418
, pp. 426-430
-
-
Van Eerdewegh, P.1
Little, R.D.2
Dupuis, J.3
-
26
-
-
0344198603
-
Haplotype-based identification of a microsomal transfer protein marker associated with the human lifespan
-
Geesaman B.J., Benson E., Brewster S.J., et al. Haplotype-based identification of a microsomal transfer protein marker associated with the human lifespan. Proc Natl Acad Sci U S A 100 (2003) 14115-14120
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 14115-14120
-
-
Geesaman, B.J.1
Benson, E.2
Brewster, S.J.3
-
27
-
-
13444269543
-
Haploview: analysis and visualization of LD and haplotype maps
-
Barrett J.C., Fry B., Maller J., et al. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21 (2005) 263-265
-
(2005)
Bioinformatics
, vol.21
, pp. 263-265
-
-
Barrett, J.C.1
Fry, B.2
Maller, J.3
-
28
-
-
0037370629
-
Using haplotype blocks to map human complex trait loci
-
Cardon L.R., and Abecasis G.R. Using haplotype blocks to map human complex trait loci. Trends Genet 19 (2003) 135-140
-
(2003)
Trends Genet
, vol.19
, pp. 135-140
-
-
Cardon, L.R.1
Abecasis, G.R.2
-
29
-
-
33748977397
-
-
Kim JH, Yoon KO, Kim JK, et al. Novel mutations of RET gene in Korean patients with sporadic Hirschsprung's disease. J Pediatr Surg [in press].
-
-
-
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