-
1
-
-
0034017850
-
GOLD-graphical overview of linkage disequilibrium
-
Abecasis, G. R. & Cookson, W. O. (2000) GOLD-graphical overview of linkage disequilibrium. Bioinformatics 16, 182-183.
-
(2000)
Bioinformatics
, vol.16
, pp. 182-183
-
-
Abecasis, G.R.1
Cookson, W.O.2
-
2
-
-
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., Cass, D. T. & 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.6
Cass, D.T.7
Chakravarti, A.8
-
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., Boutrand, L., Beldjord, C., Nihoul-Fekete, C. & Munnich, A. (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
Boutrand, L.7
Beldjord, C.8
Nihoul-Fekete, C.9
Munnich, A.10
-
4
-
-
0033361767
-
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease
-
Auricchio, A., Griseri, P., Carpentieri, M. L., Betsos, N., Staiano, A., Tozzi, A., Priolo, M., Thompson, H., Bocciardi, R., Romeo, G., Ballabio, A. & Ceccherini, I. (1999) Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. Am J Hum Genet 64, 1216-1221.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1216-1221
-
-
Auricchio, A.1
Griseri, P.2
Carpentieri, M.L.3
Betsos, N.4
Staiano, A.5
Tozzi, A.6
Priolo, M.7
Thompson, H.8
Bocciardi, R.9
Romeo, G.10
Ballabio, A.11
Ceccherini, I.12
-
5
-
-
0025268652
-
A genetic study of Hirschsprung disease
-
Badner, J. A., Sieber, W. K., Garver, K. L. & Chakravarti, A. (1990) A genetic study of Hirschsprung disease. Am J Hum Genet. 46, 568-80.
-
(1990)
Am J Hum Genet.
, vol.46
, pp. 568-580
-
-
Badner, J.A.1
Sieber, W.K.2
Garver, K.L.3
Chakravarti, A.4
-
6
-
-
0034602646
-
A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
-
Bolk, S., Pelet, A., Hofstra, R. M., Angrist, M., Salomon, R., Croaker, D., Buys, C. H., Lyonnet, S. & Chakravarti, A. (2000) A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci U S A 97, 268-273.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 268-273
-
-
Bolk, S.1
Pelet, A.2
Hofstra, R.M.3
Angrist, M.4
Salomon, R.5
Croaker, D.6
Buys, C.H.7
Lyonnet, S.8
Chakravarti, A.9
-
7
-
-
2442750413
-
Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression
-
Borrego, S., Saez, M. E., Ruiz, A., Gimm, O., Lopez-Alonso, M., Antinolo, G. & Eng, C. (1999) Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. J Med Genet 36, 771-774.
-
(1999)
J Med Genet
, vol.36
, pp. 771-774
-
-
Borrego, S.1
Saez, M.E.2
Ruiz, A.3
Gimm, O.4
Lopez-Alonso, M.5
Antinolo, G.6
Eng, C.7
-
8
-
-
0033854456
-
RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease
-
Borrego, S., Ruiz, A., Saez, M. E., Gimm, O., Gao X., Lopez-Alonso, M., Hernandez, A., Wright, F. A., Antinolo, G. & Eng, C. (2000) RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. J Med Genet 37, 572-578.
-
(2000)
J Med Genet
, vol.37
, pp. 572-578
-
-
Borrego, S.1
Ruiz, A.2
Saez, M.E.3
Gimm, O.4
Gao, X.5
Lopez-Alonso, M.6
Hernandez, A.7
Wright, F.A.8
Antinolo, G.9
Eng, C.10
-
9
-
-
0037217482
-
A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma
-
Borrego, S., Wright, F. A., Fernandez, R. M., Williams, N., Lopez-Alonso, M. Davuluri, R., Antinolo, G. & Eng, C. (2003) A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma. Am J Hum Genet 72, 88-100.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 88-100
-
-
Borrego, S.1
Wright, F.A.2
Fernandez, R.M.3
Williams, N.4
Lopez-Alonso, M.5
Davuluri, R.6
Antinolo, G.7
Eng, C.8
-
10
-
-
4444372997
-
Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2
-
Burzynski, G. M., Nolte, I. M., Osinga, J., Ceccherini, I., Twigt, B., Maas, S., Brooks, A., Verheij, J., Menacho, I. P., Buys, C. H. & Hofstra, R. M. (2004) Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2. Eur J Hum Genet 12, 604-612.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 604-612
-
-
Burzynski, G.M.1
Nolte, I.M.2
Osinga, J.3
Ceccherini, I.4
Twigt, B.5
Maas, S.6
Brooks, A.7
Verheij, J.8
Menacho, I.P.9
Buys, C.H.10
Hofstra, R.M.11
-
11
-
-
0037370629
-
Using haplotype blocks to map human complex trait loci
-
Cardon, L. R. & Abecasis, G. R. (2003) Using haplotype blocks to map human complex trait loci. Trends Genet 19, 135-140.
-
(2003)
Trends Genet
, vol.19
, pp. 135-140
-
-
Cardon, L.R.1
Abecasis, G.R.2
-
12
-
-
0036788576
-
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease
-
Carrasquillo, M. M., McCallion, A. S., Puffenberger, E. G., Kashuk, C. S., Nouri, N. & Chakravarti, A. (2002) Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet 32, 237-244.
-
(2002)
Nat Genet
, vol.32
, pp. 237-244
-
-
Carrasquillo, M.M.1
McCallion, A.S.2
Puffenberger, E.G.3
Kashuk, C.S.4
Nouri, N.5
Chakravarti, A.6
-
13
-
-
0027965639
-
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene
-
Ceccherini, I., Hofstra, R. M., Luo, Y., Stulp, R. P., Barone, V., Stelwagen, T., Bocciardi, R., Nijveen, H., Bolino, A. & Seri, M. (1994) DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. Oncogene 9, 3025-3029.
-
(1994)
Oncogene
, vol.9
, pp. 3025-3029
-
-
Ceccherini, I.1
Hofstra, R.M.2
Luo, Y.3
Stulp, R.P.4
Barone, V.5
Stelwagen, T.6
Bocciardi, R.7
Nijveen, H.8
Bolino, A.9
Seri, M.10
-
14
-
-
0002399434
-
Hirschsprung Disease
-
(eds. C. R. Scriver, A. L. Beaudet, D. Valle, W. S. Sly, B. Childs, K. W. Kinzler, B. Vogelstein) 8th edition, International Edition
-
Chakravarti, A. & Lyonnet, S. (2001) Hirschsprung Disease. In: The metabolic and molecular bases of inherited diseases (eds. C. R. Scriver, A. L. Beaudet, D. Valle, W. S. Sly, B. Childs, K. W. Kinzler, B. Vogelstein) pp 6231-6255. 8th edition, International Edition.
-
(2001)
The Metabolic and Molecular Bases of Inherited Diseases
, pp. 6231-6255
-
-
Chakravarti, A.1
Lyonnet, S.2
-
15
-
-
10744221271
-
Global survey of haplotype frequencies and linkage disequilibrium at the RET locus
-
Chattopadhyay, P., Pakstis, A. J., Mukherjee, N., Iyengar, S., Odunsi A., Okonofua, F., Bonne-Tamir, B., Speed, W., Kidd, J. R. & Kidd, K. K. (2003) Global survey of haplotype frequencies and linkage disequilibrium at the RET locus. Eur J Hum Genet 11, 760-769.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 760-769
-
-
Chattopadhyay, P.1
Pakstis, A.J.2
Mukherjee, N.3
Iyengar, S.4
Odunsi, A.5
Okonofua, F.6
Bonne-Tamir, B.7
Speed, W.8
Kidd, J.R.9
Kidd, K.K.10
-
16
-
-
0034791035
-
High-resolution haplotype structure in the human genome
-
Daly, M. J., Rioux, J. D., Schaffner, S. F., Hudson, T. J. & Lander, E. S. (2001) High-resolution haplotype structure in the human genome. Nat Genet 29, 229-232.
-
(2001)
Nat Genet
, vol.29
, pp. 229-232
-
-
Daly, M.J.1
Rioux, J.D.2
Schaffner, S.F.3
Hudson, T.J.4
Lander, E.S.5
-
17
-
-
0031149999
-
RET in human development and oncogenesis
-
Edery, P., Eng, C., Munnich, A. & Lyonnet, S. (1997) RET in human development and oncogenesis. Bioessays 19, 389-395.
-
(1997)
Bioessays
, vol.19
, pp. 389-395
-
-
Edery, P.1
Eng, C.2
Munnich, A.3
Lyonnet, S.4
-
18
-
-
33644825147
-
A common, sex-dependent RET enhancer mutation underlies Hirschsprung disease: Use of comparative genomics and genetic association to interrogate a disease locus
-
Annual Meeting Supplement - abstract
-
Emison, E. S., McCallion, A. S., Kashuk, C. S., Bush, R. T., Grice, E., Lin, S., Portnoy, M. E., Cutler, D. J., Green, E. D. & Chakravarti, A. (2004) A common, sex-dependent RET enhancer mutation underlies Hirschsprung disease: Use of comparative genomics and genetic association to interrogate a disease locus. Am J Hum Genet, Annual Meeting Supplement - abstract.
-
(2004)
Am J Hum Genet
-
-
Emison, E.S.1
McCallion, A.S.2
Kashuk, C.S.3
Bush, R.T.4
Grice, E.5
Lin, S.6
Portnoy, M.E.7
Cutler, D.J.8
Green, E.D.9
Chakravarti, A.10
-
19
-
-
0033357992
-
Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease
-
Fitze, G., Schreiber, M., Kuhlisch, E., Schackert, H. K. & Roesner, D. (1999) Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease. Am J Hum Genet 65, 1469-1473.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1469-1473
-
-
Fitze, G.1
Schreiber, M.2
Kuhlisch, E.3
Schackert, H.K.4
Roesner, D.5
-
20
-
-
0037029395
-
Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease
-
Fitze, G., Cramer, J., Ziegler, A., Schierz, M., Schreiber, M., Kuhlisch, E., Roesner, D &. Schackert, H. K. (2002) Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease. Lancet 359, 1200-1205.
-
(2002)
Lancet
, vol.359
, pp. 1200-1205
-
-
Fitze, G.1
Cramer, J.2
Ziegler, A.3
Schierz, M.4
Schreiber, M.5
Kuhlisch, E.6
Roesner, D.7
Schackert, H.K.8
-
21
-
-
0346121524
-
Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR)
-
Fitze, G., Appelt, H., Konig, I. R., Gorgens, H., Stein, U., Walther, W., Gossen, M., Schreiber, M., Ziegler, A., Roesner, D &. Schackert, H. K. (2003a) Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR). Hum Mol Genet 12, 3207-3214.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 3207-3214
-
-
Fitze, G.1
Appelt, H.2
Konig, I.R.3
Gorgens, H.4
Stein, U.5
Walther, W.6
Gossen, M.7
Schreiber, M.8
Ziegler, A.9
Roesner, D.10
Schackert, H.K.11
-
22
-
-
1542757108
-
Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease
-
Fitze, G., Schierz, M., Kuhlisch, E., Schreiber, M., Ziegler, A., Roesner, D &. Schackert, H. K. (2003b) Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease. Hum Mutat 22, 177.
-
(2003)
Hum Mutat
, vol.22
, pp. 177
-
-
Fitze, G.1
Schierz, M.2
Kuhlisch, E.3
Schreiber, M.4
Ziegler, A.5
Roesner, D.6
Schackert, H.K.7
-
23
-
-
18544365991
-
Segregation at three loci explains familial and population risk in Hirschsprung disease
-
Gabriel, S. B., Salomon, R., Pelet, A., Angrist, M., Amiel, J., Fornage, M., Attie-Bitach, T, Olson, J. M., Hofstra, R:, Buys, C., Steffann, J., Munnich, A., Lyonnet, S. & Chakravarti, A. (2002a) Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 31, 89-93.
-
(2002)
Nat Genet
, vol.31
, pp. 89-93
-
-
Gabriel, S.B.1
Salomon, R.2
Pelet, A.3
Angrist, M.4
Amiel, J.5
Fornage, M.6
Attie-Bitach, T.7
Olson, J.M.8
Hofstra, R.9
Buys, C.10
Steffann, J.11
Munnich, A.12
Lyonnet, S.13
Chakravarti, A.14
-
24
-
-
18444369013
-
The structure of haplotype blocks in the human genome
-
Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., Liu-Cordero, S. N., Roimi, C., Adeyemo, A., Cooper, R., Ward, R., Lander, E. S., Daly, M. J. & Altshuler, D. (2002b) The structure of haplotype blocks in the human genome. Science 296, 2225-2229.
-
(2002)
Science
, vol.296
, pp. 2225-2229
-
-
Gabriel, S.B.1
Schaffner, S.F.2
Nguyen, H.3
Moore, J.M.4
Roy, J.5
Blumenstiel, B.6
Higgins, J.7
DeFelice, M.8
Lochner, A.9
Faggart, M.10
Liu-Cordero, S.N.11
Roimi, C.12
Adeyemo, A.13
Cooper, R.14
Ward, R.15
Lander, E.S.16
Daly, M.J.17
Altshuler, D.18
-
25
-
-
0347595565
-
Is there a role for the IHH gene in Hirschsprung's disease?
-
Garcia-Barcelo, M. M., Lee, W. S., Sham, M. H., Lui, V. C. & Tam, P. K. 2003 Is there a role for the IHH gene in Hirschsprung's disease? Neurogastroenterol Motil 15, 663-668.
-
(2003)
Neurogastroenterol Motil
, vol.15
, pp. 663-668
-
-
Garcia-Barcelo, M.M.1
Lee, W.S.2
Sham, M.H.3
Lui, V.C.4
Tam, P.K.5
-
26
-
-
1542438600
-
Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype
-
Garcia-Barcelo, M., Sham, M. H., Lui, V. C., Chen, B. L., Song, Y. Q., Lee, W. S., Yung, S. K., Romeo, G. & Tam, P. K. (2003b) 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.40
-
-
Garcia-Barcelo, M.1
Sham, M.H.2
Lui, V.C.3
Chen, B.L.4
Song, Y.Q.5
Lee, W.S.6
Yung, S.K.7
Romeo, G.8
Tam, P.K.9
-
27
-
-
0345385015
-
Association study of PHOX2B as a candidate gene for Hirschsprung's disease
-
Garcia-Barcelo, M., Sham, M. H., Lui, V. C., Chen, B. L. S., Ott, J. & Tam, P. K. H. (2003c) Association study of PHOX2B as a candidate gene for Hirschsprung's disease. Gut 52, 563-567.
-
(2003)
Gut
, vol.52
, pp. 563-567
-
-
Garcia-Barcelo, M.1
Sham, M.H.2
Lui, V.C.3
Chen, B.L.S.4
Ott, J.5
Tam, P.K.H.6
-
28
-
-
0033813240
-
A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease
-
Griseri, P., Sancandi, M., Patrone, G., Bocciardi, R., Hofstra, R., Ravazzolo, R., Devoto, M., Romeo, G. & Ceccherini, I. (2000) A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease. Eur J Hum Genet 8, 721-724.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 721-724
-
-
Griseri, P.1
Sancandi, M.2
Patrone, G.3
Bocciardi, R.4
Hofstra, R.5
Ravazzolo, R.6
Devoto, M.7
Romeo, G.8
Ceccherini, I.9
-
29
-
-
17944399513
-
A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease
-
Griseri, P., Pesce, B., Patrone, G., Osinga, J., Puppo, F., Sancandi, M., Hofstra, R., Romeo, G., Ravazzolo, R., Devoto, M. & Ceccherini, I. (2002) A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease. Am J Hum Genet 71, 969-974.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 969-974
-
-
Griseri, P.1
Pesce, B.2
Patrone, G.3
Osinga, J.4
Puppo, F.5
Sancandi, M.6
Hofstra, R.7
Romeo, G.8
Ravazzolo, R.9
Devoto, M.10
Ceccherini, I.11
-
30
-
-
13444311533
-
A common haplotype at the 5′ end of the RET proto-oncogene, over-represented in Hirschsprung patients, is associated with reduced gene expression
-
Griseri, P., Bachetti, T., Puppo, F., Lantieri, F., Ravazzolo, R., Devoto, M. & Ceccherini, I. (2005) A common haplotype at the 5′ end of the RET proto-oncogene, over-represented in Hirschsprung patients, is associated with reduced gene expression. Hum Mutat 25, 189-195.
-
(2005)
Hum Mutat
, vol.25
, pp. 189-195
-
-
Griseri, P.1
Bachetti, T.2
Puppo, F.3
Lantieri, F.4
Ravazzolo, R.5
Devoto, M.6
Ceccherini, I.7
-
31
-
-
0034795550
-
Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex
-
Jeffreys, A. J., Kauppi, L. & Neumann, R. (2001) Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nat Genet 29, 217-222.
-
(2001)
Nat Genet
, vol.29
, pp. 217-222
-
-
Jeffreys, A.J.1
Kauppi, L.2
Neumann, R.3
-
32
-
-
0036649022
-
Reciprocal crossover asymmetry and meiotic drive in a human recombination hot spot
-
Jeffreys, A. J. & Neumann, R. (2002) Reciprocal crossover asymmetry and meiotic drive in a human recombination hot spot. Nat Genet 31, 267-271.
-
(2002)
Nat Genet
, vol.31
, pp. 267-271
-
-
Jeffreys, A.J.1
Neumann, R.2
-
33
-
-
0033786787
-
Linkage disequilibrium and the search for complex disease genes
-
Jorde, L. B. (2000) Linkage disequilibrium and the search for complex disease genes. Genome Res 10, 1435-1444.
-
(2000)
Genome Res
, vol.10
, pp. 1435-1444
-
-
Jorde, L.B.1
-
34
-
-
12244297072
-
Recombination hotspots rather than population history dominate linkage disequilibrium in the MHC class II region
-
Kauppi, L., Sajantila, A. & Jeffreys, A. J. (2003) Recombination hotspots rather than population history dominate linkage disequilibrium in the MHC class II region. Hum Mol Genet 12, 33-40.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 33-40
-
-
Kauppi, L.1
Sajantila, A.2
Jeffreys, A.J.3
-
35
-
-
0033039497
-
Prospects for whole-genome linkage disequilibrium mapping of common disease genes
-
Kruglyak, L. (1999) Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat Genet 22, 139-144.
-
(1999)
Nat Genet
, vol.22
, pp. 139-144
-
-
Kruglyak, L.1
-
36
-
-
0036640951
-
Human SNP variability and mutation rate are higher in regions of high recombination
-
Lercher, M. J. & Hurst, L. D. (2002) Human SNP variability and mutation rate are higher in regions of high recombination. Trends Genet 18, 337-340.
-
(2002)
Trends Genet
, vol.18
, pp. 337-340
-
-
Lercher, M.J.1
Hurst, L.D.2
-
37
-
-
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
-
38
-
-
0034761849
-
Bayesian analysis of haplotypes for linkage disequilibrium mapping
-
Liu, J. S., Sabatti, C., Teng, J., Keats, B. J. & Risch, N. (2001) Bayesian analysis of haplotypes for linkage disequilibrium mapping. Genome Res 11, 1716-1724.
-
(2001)
Genome Res
, vol.11
, pp. 1716-1724
-
-
Liu, J.S.1
Sabatti, C.2
Teng, J.3
Keats, B.J.4
Risch, N.5
-
39
-
-
0036137018
-
Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations
-
Nakajima, T., Jorde, L. B., Ishigami, T., Umemura, S., Emi, M., Lalouel, J. M. & Inoue, I. (2002) Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations. Am J Hum Genet 70, 108-123.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 108-123
-
-
Nakajima, T.1
Jorde, L.B.2
Ishigami, T.3
Umemura, S.4
Emi, M.5
Lalouel, J.M.6
Inoue, I.7
-
40
-
-
0032231375
-
Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus
-
Nielsen, D. M., Ehm, M. G. & Weir, B. S. (1998) Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus. Am J Hum Genet 63, 1531-1540.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1531-1540
-
-
Nielsen, D.M.1
Ehm, M.G.2
Weir, B.S.3
-
41
-
-
0036138183
-
Bayesian haplotype inference for multiple linked single-nucleotide polymorphisms
-
Niu, T., Qin, Z. S., Xu, X. & Liu, J. S. (2002) Bayesian haplotype inference for multiple linked single-nucleotide polymorphisms. Am J Hum Genet 70, 157-169.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 157-169
-
-
Niu, T.1
Qin, Z.S.2
Xu, X.3
Liu, J.S.4
-
42
-
-
3042846766
-
Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM
-
Okamoto, N., Del Maestro, R., Valero, R., Monros, E., Poo, P., Kanemura, Y. & Yamasaki, M. (2004) Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM. J Hum Genet 49, 334-437.
-
(2004)
J Hum Genet
, vol.49
, pp. 334-437
-
-
Okamoto, N.1
Del Maestro, R.2
Valero, R.3
Monros, E.4
Poo, P.5
Kanemura, Y.6
Yamasaki, M.7
-
43
-
-
0033739538
-
Genetics of Hirschsprung disease
-
Parisi, M. A. & Kapur, R. P. (2000) Genetics of Hirschsprung disease. Curr Opin Pediatr 12, 610-617.
-
(2000)
Curr Opin Pediatr
, vol.12
, pp. 610-617
-
-
Parisi, M.A.1
Kapur, R.P.2
-
44
-
-
0028802393
-
The physical map of the human RET proto-oncogene
-
Pasini, B., Hofstra, R. M., Yin, L., Bocciardi, R., Santamaria, G., Grootscholten, P. M., Ceccherini, I., Patrone, G., Priolo, M. & Buys, C. H. (1995) The physical map of the human RET proto-oncogene. Oncogene 11, 1737-1743.
-
(1995)
Oncogene
, vol.11
, pp. 1737-1743
-
-
Pasini, B.1
Hofstra, R.M.2
Yin, L.3
Bocciardi, R.4
Santamaria, G.5
Grootscholten, P.M.6
Ceccherini, I.7
Patrone, G.8
Priolo, M.9
Buys, C.H.10
-
45
-
-
0037370466
-
Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots
-
Phillips, M. S., Lawrence, R., Sachidanandam, R., Morris, A. P., Balding, D. J., Donaldson, M. A., Studebaker, J. F., Ankener, W. M., Alfisi, S. V., Kuo., F. S., Camisa, A. L., Pazorov, V., Scott, K. E., Carey, B. J., Faith, J., Katari, G., Bhatti, H. A., Cyr, J. M., Derohannessian, V., Elosua, C., Forman, A. M., Grecco, N. M., Hock, C. R., Kuebler, J. M., Lathrop, J. A., Mockler, M. A., Nachtman, E. P., Restine, S. L., Varde, S. A., Hozza, M. J., Gelfand, C. A., Broxholme, J., Abecasis, G. R., Boyce-Jacino, M. T. & Cardon, L. R. (2003) Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots. Nat Genet 33, 382-387.
-
(2003)
Nat Genet
, vol.33
, pp. 382-387
-
-
Phillips, M.S.1
Lawrence, R.2
Sachidanandam, R.3
Morris, A.P.4
Balding, D.J.5
Donaldson, M.A.6
Studebaker, J.F.7
Ankener, W.M.8
Alfisi, S.V.9
Kuo, F.S.10
Camisa, A.L.11
Pazorov, V.12
Scott, K.E.13
Carey, B.J.14
Faith, J.15
Katari, G.16
Bhatti, H.A.17
Cyr, J.M.18
Derohannessian, V.19
Elosua, C.20
Forman, A.M.21
Grecco, N.M.22
Hock, C.R.23
Kuebler, J.M.24
Lathrop, J.A.25
Mockler, M.A.26
Nachtman, E.P.27
Restine, S.L.28
Varde, S.A.29
Hozza, M.J.30
Gelfand, C.A.31
Broxholme, J.32
Abecasis, G.R.33
Boyce-Jacino, M.T.34
Cardon, L.R.35
more..
-
46
-
-
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. & Wakizaka, A. (2000) 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, 160-167.
-
(2000)
Eur J Pediatr
, vol.159
, pp. 160-167
-
-
Sakai, T.1
Nirasawa, Y.2
Itoh, Y.3
Wakizaka, A.4
-
47
-
-
0042329921
-
Single nucleotide polymorphic alleles in the 5′ region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease
-
Sancandi, M., Griseri, P., Pesce, B., Patrone, G., Puppo, F., Lerone, M., Martucciello, G., Romeo, G., Ravazzolo, R., Devoto, M. & Ceccherini, I. (2003) Single nucleotide polymorphic alleles in the 5′ region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease. J Med Genet 40, 714-718.
-
(2003)
J Med Genet
, vol.40
, pp. 714-718
-
-
Sancandi, M.1
Griseri, P.2
Pesce, B.3
Patrone, G.4
Puppo, F.5
Lerone, M.6
Martucciello, G.7
Romeo, G.8
Ravazzolo, R.9
Devoto, M.10
Ceccherini, I.11
-
48
-
-
0036963687
-
Nucleotide variability at G6pd and the signature of malarial selection in humans
-
Saunders, M. A., Hammer, M. F. & Nachman, M. W. (2002) Nucleotide variability at G6pd and the signature of malarial selection in humans. Genetics 162, 1849-1861.
-
(2002)
Genetics
, vol.162
, pp. 1849-1861
-
-
Saunders, M.A.1
Hammer, M.F.2
Nachman, M.W.3
-
49
-
-
0028174023
-
Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret
-
Schuchardt, A., D'Agati, V., Larsson-Blomberg, L., Costantini, F. & Pachnis, V. (1994) Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature 367, 380-383.
-
(1994)
Nature
, vol.367
, pp. 380-383
-
-
Schuchardt, A.1
D'Agati, V.2
Larsson-Blomberg, L.3
Costantini, F.4
Pachnis, V.5
-
50
-
-
16944365710
-
Frequency of RET mutations in long- and short-segment Hirschsprung disease
-
Seri, M., Yin, L., Barone, V., Bolino, A., Celli, I., Bocciardi, R., Pasini, B., Ceccherini, I., Lerone, M., Kristoffersson, U., Larsson, L. T., Casasa, J. M., Cass, D. T., Abramowicz, M. J., Vanderwinden, J. M., Kravcenkiene, I., Baric, I., Silengo, M., Martucciello, G. & Romeo, G. (1997) Frequency of RET mutations in long- and short-segment Hirschsprung disease. Hum Mutat 9, 243-249.
-
(1997)
Hum Mutat
, vol.9
, pp. 243-249
-
-
Seri, M.1
Yin, L.2
Barone, V.3
Bolino, A.4
Celli, I.5
Bocciardi, R.6
Pasini, B.7
Ceccherini, I.8
Lerone, M.9
Kristoffersson, U.10
Larsson, L.T.11
Casasa, J.M.12
Cass, D.T.13
Abramowicz, M.J.14
Vanderwinden, J.M.15
Kravcenkiene, I.16
Baric, I.17
Silengo, M.18
Martucciello, G.19
Romeo, G.20
more..
-
51
-
-
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
-
52
-
-
0035071957
-
A new statistical method for haplotype reconstruction from population data
-
Stephens, M., Smith, N. J. & Donnelly, P. 2001. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68, 978-689.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 689-978
-
-
Stephens, M.1
Smith, N.J.2
Donnelly, P.3
-
53
-
-
13144265739
-
Genome-wide association studies: Theoretical and practical concerns
-
Wang, W. Y. S., Barratt, B. J., Clayton, D. G. & Todd, J. A. (2005) Genome-wide association studies: Theoretical and practical concerns. Nat Rev Genet 6, 109-118.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 109-118
-
-
Wang, W.Y.S.1
Barratt, B.J.2
Clayton, D.G.3
Todd, J.A.4
-
54
-
-
0037932788
-
Randomly distributed crossovers may generate block-like patterns of linkage disequilibrium: An act of genetic drift
-
Zhang, K., Akey, J. M., Wang, N., Xiong, M., Chakraborty, R. & Jin, L. (2003) Randomly distributed crossovers may generate block-like patterns of linkage disequilibrium: An act of genetic drift. Hum Genet 113, 51-59.
-
(2003)
Hum Genet
, vol.113
, pp. 51-59
-
-
Zhang, K.1
Akey, J.M.2
Wang, N.3
Xiong, M.4
Chakraborty, R.5
Jin, L.6
|