-
1
-
-
0002399434
-
Hirschsprung disease
-
In Scriver, C.R., Beaudet, A.L., Valle, D., Sly, W.S., Childs, B., Kinzler, K. and Vogelstein, B. (eds.), 8th edn. McGraw-Hill, New York
-
Chakravarti, A. and Lyonnet, S. (2001) Hirschsprung disease. In Scriver, C.R., Beaudet, A.L., Valle, D., Sly, W.S., Childs, B., Kinzler, K. and Vogelstein, B. (eds.), The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill, New York, pp. 6231-6255.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 6231-6255
-
-
Chakravarti, A.1
Lyonnet, S.2
-
2
-
-
0025268652
-
A genetic study of hirschsprung disease
-
Badner, J.A., Sieber, W.K., Garver, K.L. and Chakravarti, A. (1990) A genetic study of hirschsprung disease. Am. J. Hum. Genet., 46, 568-580.
-
(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
-
3
-
-
0033739538
-
Genetics of hirschsprung disease
-
Parisi, M.A. and 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
-
4
-
-
38349112858
-
Hirschsprung disease, associated syndromes and genetics: a review
-
Amiel, J., Sproat-Emison, E., Garcia-Barcelo, M., Lantieri, F., Burzynski, G., Borrego, S., Pelet, A., Arnold, S., Miao, X., Griseri, P. 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
Borrego, S.6
Pelet, A.7
Arnold, S.8
Miao, X.9
Griseri, P.10
-
5
-
-
84884414964
-
Contribution of rare and common variants determine complex diseases-hirschsprung disease as a model
-
Alves, M.M., Sribudiani, Y., Brouwer, R.W., Amiel, J., Antinolo, G., Borrego, S., Ceccherini, I., Chakravarti, A., Fernandez, R.M., Garcia-Barcelo, M.M. et al. (2013) Contribution of rare and common variants determine complex diseases-hirschsprung disease as a model. Dev. Biol., 382, 320-329.
-
(2013)
Dev. Biol.
, vol.382
, pp. 320-329
-
-
Alves, M.M.1
Sribudiani, Y.2
Brouwer, R.W.3
Amiel, J.4
Antinolo, G.5
Borrego, S.6
Ceccherini, I.7
Chakravarti, A.8
Fernandez, R.M.9
Garcia-Barcelo, M.M.10
-
6
-
-
84857691276
-
Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer
-
Jiang, Q., Turner, T., Sosa, M.X., Rakha, A., Arnold, S. and Chakravarti, A. (2012) Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer. Hum. Mutat., 33, 281-289.
-
(2012)
Hum. Mutat.
, vol.33
, pp. 281-289
-
-
Jiang, Q.1
Turner, T.2
Sosa, M.X.3
Rakha, A.4
Arnold, S.5
Chakravarti, A.6
-
7
-
-
84872773906
-
Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish hirschsprung patients
-
Luzon-Toro, B., Fernandez, R.M., Torroglosa, A., de Agustin, J. C., Mendez-Vidal, C., Segura, D.I., Antinolo, G. and Borrego, S. (2013) Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish hirschsprung patients. PLoS One, 8, e54800.
-
(2013)
PLoS One
, vol.8
, pp. e54800
-
-
Luzon-Toro, B.1
Fernandez, R.M.2
Torroglosa, A.3
de Agustin, J.C.4
Mendez-Vidal, C.5
Segura, D.I.6
Antinolo, G.7
Borrego, S.8
-
8
-
-
17244383525
-
A common sex-dependent mutation in a RET enhancer underlies hirschsprung disease risk
-
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. and Chakravarti, A. (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
Lin, S.6
Portnoy, M.E.7
Cutler, D.J.8
Green, E.D.9
Chakravarti, A.10
-
9
-
-
77955081986
-
Differential contributions of rare and common, coding and noncoding ret mutations to multifactorial hirschsprung disease liability
-
Emison, E.S., Garcia-Barcelo, M., Grice, E.A., Lantieri, F., Amiel, J., Burzynski, G., Fernandez, R.M., Hao, L., Kashuk, C.,West, K. et al. (2010) Differential contributions of rare and common, coding and noncoding ret mutations to multifactorial hirschsprung disease liability. Am. J. Hum. Genet., 87, 60-74.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 60-74
-
-
Emison, E.S.1
Garcia-Barcelo, M.2
Grice, E.A.3
Lantieri, F.4
Amiel, J.5
Burzynski, G.6
Fernandez, R.M.7
Hao, L.8
Kashuk, C.9
West, K.10
-
10
-
-
62449175742
-
Genome-wide association study identifies NRG1 as a susceptibility locus for hirschsprung's disease
-
Garcia-Barcelo, M.M., Tang, C.S., Ngan, E.S., Lui, V.C., Chen, Y., So, M.T., Leon, T.Y., Miao, X.P., Shum, C.K., Liu, F.Q. et al. (2009) Genome-wide association study identifies NRG1 as a susceptibility locus for hirschsprung's disease. Proc. Natl Acad. Sci. USA., 106, 2694-2699.
-
(2009)
Proc. Natl Acad. Sci. USA.
, 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
So, M.T.6
Leon, T.Y.7
Miao, X.P.8
Shum, C.K.9
Liu, F.Q.10
-
11
-
-
84860500776
-
Association of genetic polymorphisms in the RETprotooncogene and NRG1 with hirschsprung disease in Thai patients
-
Phusantisampan, T., Sangkhathat, S., Phongdara, A., Chiengkriwate, P., Patrapinyokul, S. and Mahasirimongkol, S. (2012) Association of genetic polymorphisms in the RETprotooncogene and NRG1 with hirschsprung disease in Thai patients. J. Hum. Genet., 57, 286-293.
-
(2012)
J. Hum. Genet.
, vol.57
, pp. 286-293
-
-
Phusantisampan, T.1
Sangkhathat, S.2
Phongdara, A.3
Chiengkriwate, P.4
Patrapinyokul, S.5
Mahasirimongkol, S.6
-
12
-
-
84919430145
-
Effects of RET and NRG1 polymorphisms in indonesian patients with hirschsprung disease
-
Gunadi, Kapoor, A., Ling, A.Y., Rochadi, Makhmudi, A., Herini, E.S., Sosa, M.X., Chatterjee, S. and Chakravarti, A. (2014) Effects of RET and NRG1 polymorphisms in indonesian patients with hirschsprung disease. J. Pediatr. Surg., 49, 1614-1618.
-
(2014)
J. Pediatr. Surg.
, vol.49
, pp. 1614-1618
-
-
Gunadi, K.A.1
Ling, A.Y.2
Rochadi, M.A.3
Herini, E.S.4
Sosa, M.X.5
Chatterjee, S.6
Chakravarti, A.7
-
13
-
-
34247863773
-
The neuregulin-I/ErbB signaling system in development and disease
-
Britsch, S. (2007) The neuregulin-I/ErbB signaling system in development and disease. Adv. Anat. Embryol. Cell Biol., 190, 1-65.
-
(2007)
Adv. Anat. Embryol. Cell Biol.
, vol.190
, pp. 1-65
-
-
Britsch, S.1
-
14
-
-
0027787683
-
The semaphorin genes encode a family of transmembrane and secreted growth cone guidance molecules
-
Kolodkin, A.L., Matthes, D.J. and Goodman, C.S. (1993) The semaphorin genes encode a family of transmembrane and secreted growth cone guidance molecules. Cell, 75, 1389-1399.
-
(1993)
Cell
, vol.75
, pp. 1389-1399
-
-
Kolodkin, A.L.1
Matthes, D.J.2
Goodman, C.S.3
-
15
-
-
28444496712
-
Semaphorins command cells to move
-
Kruger, R.P., Aurandt, J. and Guan, K.L. (2005) Semaphorins command cells to move. Nat. Rev. Mol. Cell Biol., 6, 789-800.
-
(2005)
Nat. Rev. Mol. Cell Biol.
, vol.6
, pp. 789-800
-
-
Kruger, R.P.1
Aurandt, J.2
Guan, K.L.3
-
16
-
-
84984932946
-
Population genetics-making sense out of sequence
-
Chakravarti, A. (1999) Population genetics-making sense out of sequence. Nat. Genet., 21, 56-60.
-
(1999)
Nat. Genet.
, vol.21
, pp. 56-60
-
-
Chakravarti, A.1
-
17
-
-
84871265043
-
Comprehensive analysis of NRG1 common and rare variants in hirschsprung patients
-
Luzon-Toro, B., Torroglosa, A., Nunez-Torres, R., Enguix-Riego, M.V., Fernandez, R.M., de Agustin, J.C., Antinolo, G. and Borrego, S. (2012) Comprehensive analysis of NRG1 common and rare variants in hirschsprung patients. PLoS One, 7, e36524.
-
(2012)
PLoS One
, vol.7
, pp. e36524
-
-
Luzon-Toro, B.1
Torroglosa, A.2
Nunez-Torres, R.3
Enguix-Riego, M.V.4
Fernandez, R.M.5
de Agustin, J.C.6
Antinolo, G.7
Borrego, S.8
-
18
-
-
80052603542
-
Semaphorin 3A expression in the colon of hirschsprung disease
-
Wang, L.L., Fan, Y., Zhou, F.H., Li, H., Zhang, Y., Miao, J.N., Gu, H., Huang, T.C. and Yuan, Z.W. (2011) Semaphorin 3A expression in the colon of hirschsprung disease. Birth Defects Res. A Clin. Mol. Teratol., 91, 842-847.
-
(2011)
Birth Defects Res. A Clin. Mol. Teratol.
, vol.91
, pp. 842-847
-
-
Wang, L.L.1
Fan, Y.2
Zhou, F.H.3
Li, H.4
Zhang, Y.5
Miao, J.N.6
Gu, H.7
Huang, T.C.8
Yuan, Z.W.9
-
19
-
-
1842483890
-
Case/pseudocontrol analysis in genetic association studies: A unified framework for detection of genotype and haplotype associations, gene-gene and gene-environment interactions, and parent-of-origin effects
-
Cordell, H.J., Barratt, B.J. and Clayton, D.G. (2004) Case/pseudocontrol analysis in genetic association studies: A unified framework for detection of genotype and haplotype associations, gene-gene and gene-environment interactions, and parent-of-origin effects. Genet. Epidemiol., 26, 167-185.
-
(2004)
Genet. Epidemiol.
, vol.26
, pp. 167-185
-
-
Cordell, H.J.1
Barratt, B.J.2
Clayton, D.G.3
-
20
-
-
0027377799
-
Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM)
-
Spielman, R.S., McGinnis, R.E. and Ewens, W.J. (1993) Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am. J. Hum. Genet., 52, 506-516.
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 506-516
-
-
Spielman, R.S.1
McGinnis, R.E.2
Ewens, W.J.3
-
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, M. A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J. 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
Bender, D.6
Maller, J.7
Sklar, P.8
de Bakker, P.I.9
Daly, M.J.10
|