-
1
-
-
38349112858
-
Hirschsprung disease, associated syndromes and genetics: A review
-
Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, et al. (2008) Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet 45: 1-14.
-
(2008)
J Med Genet
, vol.45
, pp. 1-14
-
-
Amiel, J.1
Sproat-Emison, E.2
Garcia-Barcelo, M.3
Lantieri, F.4
Burzynski, G.5
-
2
-
-
0002399434
-
Hirschsprung Disease
-
In: Scriver CR, Sly WS, Valle D, Beaudet AL, editors, McGraw-Hill: New York
-
Chakravarti A, Lyonnet S (2001) Hirschsprung Disease. In: Scriver CR, Sly WS, Valle D, Beaudet AL, editors. The Metabolic and Molecular Basis of Inherited Diseases: McGraw-Hill: New York. pp. 6231-6255.
-
(2001)
The Metabolic and Molecular Basis of Inherited Diseases
, pp. 6231-6255
-
-
Chakravarti, A.1
Lyonnet, S.2
-
3
-
-
0027185569
-
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10
-
Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul-Fekete C, et al. (1993) A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet 4: 346-350.
-
(1993)
Nat Genet
, vol.4
, pp. 346-350
-
-
Lyonnet, S.1
Bolino, A.2
Pelet, A.3
Abel, L.4
Nihoul-Fekete, C.5
-
4
-
-
0028787002
-
RET-deficient mice: An animal model for Hirschsprung's disease and renal agenesis
-
Schuchardt A, D'Agati V, Larsson-Blomberg L, Costantini F, Pachnis V (1995) RET-deficient mice: an animal model for Hirschsprung's disease and renal agenesis. J Intern Med 238: 327-332.
-
(1995)
J Intern Med
, vol.238
, pp. 327-332
-
-
Schuchardt, A.1
D'agati, V.2
Larsson-Blomberg, L.3
Costantini, F.4
Pachnis, V.5
-
5
-
-
17244383525
-
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
-
Emison ES, McCallion AS, Kashuk CS, Bush RT, Grice E, et al. (2005) A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 434: 857-863.
-
(2005)
Nature
, vol.434
, pp. 857-863
-
-
Emison, E.S.1
McCallion, A.S.2
Kashuk, C.S.3
Bush, R.T.4
Grice, E.5
-
6
-
-
29644434290
-
Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer
-
Grice EA, Rochelle ES, Green ED, Chakravarti A, McCallion AS (2005) Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer. Hum Mol Genet 14: 3837-3845.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3837-3845
-
-
Grice, E.A.1
Rochelle, E.S.2
Green, E.D.3
Chakravarti, A.4
McCallion, A.S.5
-
7
-
-
19944430369
-
TTF-1 and RET promoter SNPs: Regulation of RET transcription in Hirschsprung's disease
-
Garcia-Barcelo M, Ganster RW, Lui VC, Leon TY, So MT, et al. (2005) TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease. Hum Mol Genet 14: 191-204.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 191-204
-
-
Garcia-Barcelo, M.1
Ganster, R.W.2
Lui, V.C.3
Leon, T.Y.4
So, M.T.5
-
8
-
-
1542438600
-
Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype
-
Garcia-Barcelo MM, Sham MH, Lui VC, Chen BL, Song YQ, et al. (2003) Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype. J Med Genet 40: e122.
-
(2003)
J Med Genet
, vol.e122
, pp. 40
-
-
Garcia-Barcelo, M.M.1
Sham, M.H.2
Lui, V.C.3
Chen, B.L.4
Song, Y.Q.5
-
9
-
-
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, Sham MH, Lee WS, Lui VC, Chen BL, et al. (2004) 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: 93-100.
-
(2004)
Clin Chem
, vol.50
, pp. 93-100
-
-
Garcia-Barcelo, M.1
Sham, M.H.2
Lee, W.S.3
Lui, V.C.4
Chen, B.L.5
-
10
-
-
77955193812
-
-
Emison ESConsortiumTIH, Chakravarti A (Unpublished) A SNP in intron 1 explains the differential worldwide Incidence of Hirschsprung Disease
-
Emison ESConsortiumTIH, Chakravarti A (Unpublished) A SNP in intron 1 explains the differential worldwide Incidence of Hirschsprung Disease.
-
-
-
-
11
-
-
45749144781
-
Mapping of a Hirschsprung's disease locus in 3p21
-
Garcia-Barcelo MM, Fong PY, Tang CS, Miao XP, So MT, et al. (2008) Mapping of a Hirschsprung's disease locus in 3p21. Eur J Hum Genet 16: 833-840.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 833-840
-
-
Garcia-Barcelo, M.M.1
Fong, P.Y.2
Tang, C.S.3
Miao, X.P.4
So, M.T.5
-
12
-
-
62449175742
-
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease
-
Garcia-Barcelo MM, Tang CS, Ngan ES, Lui VC, Chen Y, et al. (2009) Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. Proc Natl Acad Sci U S A 106: 2694-2699.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 2694-2699
-
-
Garcia-Barcelo, M.M.1
Tang, C.S.2
Ngan, E.S.3
Lui, V.C.4
Chen, Y.5
-
13
-
-
0242691208
-
A comparison of bayesian methods for haplotype reconstruction from population genotype data
-
Stephens M, Donnelly P (2003) A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73: 1162-1169.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1162-1169
-
-
Stephens, M.1
Donnelly, P.2
-
14
-
-
13844270527
-
Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation
-
Stephens M, Scheet P (2005) Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am J Hum Genet 76: 449-462.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 449-462
-
-
Stephens, M.1
Scheet, P.2
-
15
-
-
0035071957
-
A new statistical method for haplotype reconstruction from population data
-
Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68: 978-989.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 978-989
-
-
Stephens, M.1
Smith, N.J.2
Donnelly, P.3
-
16
-
-
33344458848
-
A comparison of phasing algorithms for trios and unrelated individuals
-
Marchini J, Cutler D, Patterson N, Stephens M, Eskin E, et al. (2006) A comparison of phasing algorithms for trios and unrelated individuals. Am J Hum Genet 78: 437-450.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 437-450
-
-
Marchini, J.1
Cutler, D.2
Patterson, N.3
Stephens, M.4
Eskin, E.5
-
17
-
-
0003860037
-
-
Gilks WR, Richardson S, Spiegelhalter DJ, editors, London: Chapman & Hall
-
Gilks WR, Richardson S, Spiegelhalter DJ, editors. (1996) Markov-Chain Monte Carlo in practice:. London: Chapman & Hall.
-
(1996)
Markov-Chain Monte Carlo In Practice:
-
-
-
18
-
-
0347361674
-
Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data
-
Li N, Stephens M (2003) Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data. Genetics 165: 2213-2233.
-
(2003)
Genetics
, vol.165
, pp. 2213-2233
-
-
Li, N.1
Stephens, M.2
-
19
-
-
0036300177
-
DMLE+: Bayesian linkage disequilibrium gene mapping
-
Reeve JP, Rannala B (2002) DMLE+: Bayesian linkage disequilibrium gene mapping. Bioinformatics 18: 894-895.
-
(2002)
Bioinformatics
, vol.18
, pp. 894-895
-
-
Reeve, J.P.1
Rannala, B.2
-
20
-
-
33644893323
-
Association of the IL1 gene cluster with susceptibility to ankylosing spondylitis: An analysis of three Canadian populations
-
Maksymowych WP, Rahman P, Reeve JP, Gladman DD, Peddle L, et al. (2006) Association of the IL1 gene cluster with susceptibility to ankylosing spondylitis: an analysis of three Canadian populations. Arthritis Rheum 54: 974-985.
-
(2006)
Arthritis Rheum
, vol.54
, pp. 974-985
-
-
Maksymowych, W.P.1
Rahman, P.2
Reeve, J.P.3
Gladman, D.D.4
Peddle, L.5
-
21
-
-
34548292504
-
PLINK: A tool set for whole-genome association and population-based linkage analyses
-
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.5
-
22
-
-
33644815947
-
Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles
-
Lantieri F, Griseri P, Puppo FCampus R, Martucciello G, et al. (2006) Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles. Ann Hum Genet 70: 12-26.
-
(2006)
Ann Hum Genet
, vol.70
, pp. 12-26
-
-
Lantieri, F.1
Griseri, P.2
Puppo Fcampus, R.3
Martucciello, G.4
|