-
2
-
-
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
-
3
-
-
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 FA, Fernández RM, Williams N, López-Alonso M, et al. (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(1): 88-100.
-
(2003)
Am J Hum Genet
, vol.72
, Issue.1
, pp. 88-100
-
-
Borrego, S.1
Wright, F.A.2
Fernández, R.M.3
Williams, N.4
López-Alonso, M.5
-
4
-
-
17144373665
-
Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249
-
Fernandez RM, Boru G, Peciña A, Jones K, López-Alonso M, et al. (2005) Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at-1249. J Med Genet 42(4): 322-7.
-
(2005)
J Med Genet
, vol.42
, Issue.4
, pp. 322-327
-
-
Fernandez, R.M.1
Boru, G.2
Peciña, A.3
Jones, K.4
López-Alonso, M.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 14 434(7035): 857-863.
-
(2005)
Nature 14
, vol.434
, Issue.7035
, pp. 857-863
-
-
Emison, E.S.1
McCallion, A.S.2
Kashuk, C.S.3
Bush, R.T.4
Grice, E.5
-
6
-
-
77955081986
-
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability
-
Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, et al. (2010) Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet 87(1): 60-74.
-
(2010)
Am J Hum Genet
, vol.87
, Issue.1
, pp. 60-74
-
-
Emison, E.S.1
Garcia-Barcelo, M.2
Grice, E.A.3
Lantieri, F.4
Amiel, J.5
-
7
-
-
18244414860
-
Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease
-
Borrego S, Fernández RM, Dziema H, Niess A, López-Alonso M, et al. (2003) Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease. J Med Genet 40(3): e18.
-
(2003)
J Med Genet
, vol.40
, Issue.3
-
-
Borrego, S.1
Fernández, R.M.2
Dziema, H.3
Niess, A.4
López-Alonso, M.5
-
8
-
-
47249114782
-
NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease
-
Ruiz-Ferrer M, Fernandez RM, Antiñolo G, Lopez-Alonso M, Borrego S, (2008) NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease. J Pediatr Surg 43: 1308-1311.
-
(2008)
J Pediatr Surg
, vol.43
, pp. 1308-1311
-
-
Ruiz-Ferrer, M.1
Fernandez, R.M.2
Antiñolo, G.3
Lopez-Alonso, M.4
Borrego, S.5
-
9
-
-
58149313675
-
A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease
-
Fernández RM, Sánchez-Mejías A, Mena MD, Ruiz-Ferrer M, López-Alonso M, et al. (2009) A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease. Ann Hum Genet 73: 19-25.
-
(2009)
Ann Hum Genet
, vol.73
, pp. 19-25
-
-
Fernández, R.M.1
Sánchez-Mejías, A.2
Mena, M.D.3
Ruiz-Ferrer, M.4
López-Alonso, M.5
-
10
-
-
79955711598
-
Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease
-
Ruiz-Ferrer M, Torroglosa A, Luzón-Toro B, Fernández RM, Antiñolo G, et al. (2011) Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease. J Mol Med (Berl) 89: 471-480.
-
(2011)
J Mol Med (Berl)
, vol.89
, pp. 471-480
-
-
Ruiz-Ferrer, M.1
Torroglosa, A.2
Luzón-Toro, B.3
Fernández, R.M.4
Antiñolo, G.5
-
11
-
-
80051608948
-
Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR
-
Ruiz-Ferrer M, Torroglosa A, Núñez-Torres R, de Agustín JC, Antiñolo G, et al. (2011) Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR. PLoS One 6(8): e23475.
-
(2011)
PLoS One
, vol.6
, Issue.8
-
-
Ruiz-Ferrer, M.1
Torroglosa, A.2
Núñez-Torres, R.3
de Agustín, J.C.4
Antiñolo, G.5
-
12
-
-
84856678164
-
Mutations in the NRG1 gene are associated with Hirschsprung disease
-
Tang CS, Ngan ES, Tang WK, So MT, Cheng G, et al. (2012) Mutations in the NRG1 gene are associated with Hirschsprung disease. Hum Genet 131(1): 67-76.
-
(2012)
Hum Genet
, vol.131
, Issue.1
, pp. 67-76
-
-
Tang, C.S.1
Ngan, E.S.2
Tang, W.K.3
So, M.T.4
Cheng, G.5
-
13
-
-
84857691276
-
Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer
-
Jiang Q, Turner T, Sosa MX, Rakha A, Arnold S, et al. (2012) Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer. Hum Mutat 33(1): 281-9.
-
(2012)
Hum Mutat
, vol.33
, Issue.1
, pp. 281-289
-
-
Jiang, Q.1
Turner, T.2
Sosa, M.X.3
Rakha, A.4
Arnold, S.5
-
14
-
-
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 RM, Angrist M, Salomon R, et al. (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 USA 97: 268-273.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 268-273
-
-
Bolk, S.1
Pelet, A.2
Hofstra, R.M.3
Angrist, M.4
Salomon, R.5
-
15
-
-
18544365991
-
Segregation at three loci explains familial and population risk in Hirschsprung disease
-
Gabriel SB, Salomon R, Pelet A, Angrist M, Amiel J, et al. (2002) 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
-
16
-
-
45749144781
-
Mapping of a Hirschsprung's disease locus in 3p21
-
Garcia-Barceló 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-Barceló, M.M.1
Fong, P.Y.2
Tang, C.S.3
Miao, X.P.4
So, M.T.5
-
17
-
-
0036788576
-
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease
-
Carrasquillo MM, McCallion AS, Puffenberger EG, Kashuk CS, Nouri N, et al. (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
-
18
-
-
13144282294
-
Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies
-
Lin S, Chakravarti A, Cutler DJ, (2004) Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies. Nat Genet 36: 1181-1188.
-
(2004)
Nat Genet
, vol.36
, pp. 1181-1188
-
-
Lin, S.1
Chakravarti, A.2
Cutler, D.J.3
-
19
-
-
33746850690
-
A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3
-
Brooks AS, Leegwater PA, Burzynski GM, Willems PJ, de Graaf B, et al. (2006) A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3. J Med Genet 43(7)e35.
-
(2006)
J Med Genet
, vol.43
, Issue.7
-
-
Brooks, A.S.1
Leegwater, P.A.2
Burzynski, G.M.3
Willems, P.J.4
de Graaf, B.5
-
20
-
-
0030987542
-
Disruption of semaphorin III/D gene causes severe abnormality in peripheral nerve projection
-
Taniguchi M, Yuasa S, Fujisawa H, Naruse I, Saga S, et al. (1997) Disruption of semaphorin III/D gene causes severe abnormality in peripheral nerve projection. Neuron 19(3): 519-30.
-
(1997)
Neuron
, vol.19
, Issue.3
, pp. 519-530
-
-
Taniguchi, M.1
Yuasa, S.2
Fujisawa, H.3
Naruse, I.4
Saga, S.5
-
21
-
-
0030936559
-
A sensory axon repellent secreted from ventral spinal cord explants is neutralized by antibodies raised against collapsin-1
-
Shepherd IT, Luo Y, Lefcort F, Reichardt LF, Raper JA, (1997) A sensory axon repellent secreted from ventral spinal cord explants is neutralized by antibodies raised against collapsin-1. Development 124(7): 1377-85.
-
(1997)
Development
, vol.124
, Issue.7
, pp. 1377-1385
-
-
Shepherd, I.T.1
Luo, Y.2
Lefcort, F.3
Reichardt, L.F.4
Raper, J.A.5
-
22
-
-
34247163215
-
Effects of different regions of the developing gut on the migration of enteric neural crest-derived cells: A role for Sema3A, but not Sema3F
-
Anderson RB, Bergner AJ, Taniguchi M, Fujisawa H, Forrai A, et al. (2007) Effects of different regions of the developing gut on the migration of enteric neural crest-derived cells: A role for Sema3A, but not Sema3F. Dev Biol 305: 287-299.
-
(2007)
Dev Biol
, vol.305
, pp. 287-299
-
-
Anderson, R.B.1
Bergner, A.J.2
Taniguchi, M.3
Fujisawa, H.4
Forrai, A.5
-
23
-
-
18844386538
-
Semaphorin signaling guides cranial neural crest cell migration in zebrafish
-
Yu HH, Moens CB, (2005) Semaphorin signaling guides cranial neural crest cell migration in zebrafish. Dev Biol 15 280(2): 373-85.
-
(2005)
Dev Biol 15
, vol.280
, Issue.2
, pp. 373-385
-
-
Yu, H.H.1
Moens, C.B.2
-
24
-
-
33751028150
-
Semaphorin 3d promotes cell proliferation and neural crest cell development downstream of TCF in the zebrafish hindbrain
-
Berndt JD, Halloran MC, (2006) Semaphorin 3d promotes cell proliferation and neural crest cell development downstream of TCF in the zebrafish hindbrain. Development 133(20): 3983-92.
-
(2006)
Development
, vol.133
, Issue.20
, pp. 3983-3992
-
-
Berndt, J.D.1
Halloran, M.C.2
-
25
-
-
70449708915
-
Semaphorin3A/neuropilin-1 signaling acts as a molecular switch regulating neural crest migration during cornea development
-
Lwigale PY, Bronner-Fraser M, (2009) Semaphorin3A/neuropilin-1 signaling acts as a molecular switch regulating neural crest migration during cornea development. Dev Biol 336(2): 257-65.
-
(2009)
Dev Biol
, vol.336
, Issue.2
, pp. 257-265
-
-
Lwigale, P.Y.1
Bronner-Fraser, M.2
-
26
-
-
0033179033
-
Collapsin-1/semaphorin D is a repellent for chick ganglion of Remak axons
-
Shepherd IT, Raper JA, (1999) Collapsin-1/semaphorin D is a repellent for chick ganglion of Remak axons. Dev Biol 212(1): 42-53.
-
(1999)
Dev Biol
, vol.212
, Issue.1
, pp. 42-53
-
-
Shepherd, I.T.1
Raper, J.A.2
-
27
-
-
84865181852
-
NRP1 and NRP2 cooperate to regulate gangliogenesis, axon guidance and target innervation in the sympathetic nervous system
-
doi: 10.1016/j.ydbio.2012.06.026
-
Maden CH, Gomes J, Schwarz Q, Davidson K, Tinker A, et al. (2012) NRP1 and NRP2 cooperate to regulate gangliogenesis, axon guidance and target innervation in the sympathetic nervous system. Dev Biol 15 369(2): 277-85 doi:10.1016/j.ydbio.2012.06.026.
-
(2012)
Dev Biol 15
, vol.369
, Issue.2
, pp. 277-285
-
-
Maden, C.H.1
Gomes, J.2
Schwarz, Q.3
Davidson, K.4
Tinker, A.5
-
28
-
-
84865330971
-
Class 3 semaphorins as a therapeutic target
-
doi: 10.1517/14728222.2012.710201
-
Goshima Y, Sasaki Y, Yamashita N, Nakamura F, (2012) Class 3 semaphorins as a therapeutic target. Expert Opin Ther Targets 16(9): 933-44 doi:10.1517/14728222.2012.710201.
-
(2012)
Expert Opin Ther Targets
, vol.16
, Issue.9
, pp. 933-944
-
-
Goshima, Y.1
Sasaki, Y.2
Yamashita, N.3
Nakamura, F.4
-
29
-
-
84866503317
-
Gdnf Activates Midline Repulsion by Semaphorin3B via NCAM during Commissural Axon Guidance
-
doi: 10.1016/j.neuron.2012.08.021
-
Charoy C, Nawabi H, Reynaud F, Derrington E, Bozon M, et al. (2012) Gdnf Activates Midline Repulsion by Semaphorin3B via NCAM during Commissural Axon Guidance. Neuron 75(6): 1051-66 doi:10.1016/j.neuron.2012.08.021.
-
(2012)
Neuron
, vol.75
, Issue.6
, pp. 1051-1066
-
-
Charoy, C.1
Nawabi, H.2
Reynaud, F.3
Derrington, E.4
Bozon, M.5
-
30
-
-
80052603542
-
Semaphorin 3A Expression in the Colon of Hirschsprung Disease
-
Wang LL, Fan Y, Zhou FH, Li H, Zhang Y, et al. (2011) Semaphorin 3A Expression in the Colon of Hirschsprung Disease. Birth Defects Res A Clin Mol Teratol 91(9): 842-847.
-
(2011)
Birth Defects Res A Clin Mol Teratol
, vol.91
, Issue.9
, pp. 842-847
-
-
Wang, L.L.1
Fan, Y.2
Zhou, F.H.3
Li, H.4
Zhang, Y.5
-
31
-
-
84863075259
-
SEMA3A rs7804122 polymorphism is associated with Hirschsprung disease in the Northeastern region of China
-
Wang LL, Zhang Y, Fan Y, Li H, Zhou FH, et al. (2012) SEMA3A rs7804122 polymorphism is associated with Hirschsprung disease in the Northeastern region of China. Birth Defects Res A Clin Mol Teratol 94(2): 91-95.
-
(2012)
Birth Defects Res A Clin Mol Teratol
, vol.94
, Issue.2
, pp. 91-95
-
-
Wang, L.L.1
Zhang, Y.2
Fan, Y.3
Li, H.4
Zhou, F.H.5
-
32
-
-
60149095674
-
The many faces of SEMAs: from development to pathology
-
Roth L, Koncina E, Satkauskas S, Crémel G, Aunis D, et al. (2009) The many faces of SEMAs: from development to pathology. Cell Mol Life Sci 66: 649-666.
-
(2009)
Cell Mol Life Sci
, vol.66
, pp. 649-666
-
-
Roth, L.1
Koncina, E.2
Satkauskas, S.3
Crémel, G.4
Aunis, D.5
-
33
-
-
20144389584
-
Plexin-a4 mediates axon-repulsive activities of both secreted and transmembrane semaphorins and plays roles in nerve fiber guidance
-
Suto F, Ito K, Uemura M, Shimizu M, Shinkawa Y, et al. (2005) Plexin-a4 mediates axon-repulsive activities of both secreted and transmembrane semaphorins and plays roles in nerve fiber guidance. J Neurosci 25(14): 3628-3637.
-
(2005)
J Neurosci
, vol.25
, Issue.14
, pp. 3628-3637
-
-
Suto, F.1
Ito, K.2
Uemura, M.3
Shimizu, M.4
Shinkawa, Y.5
-
34
-
-
0030661735
-
Mutations in Hirschsprung disease: When does a mutation contribute to phenotype
-
Hofstra RM, Osinga J, Buys CH, (1997) Mutations in Hirschsprung disease: When does a mutation contribute to phenotype. Eur J Hum Genet 5: 180-185.
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 180-185
-
-
Hofstra, R.M.1
Osinga, J.2
Buys, C.H.3
-
35
-
-
0032786441
-
Signalling by the RET receptor tyrosine kinase and its role in the development of the mammalian enteric nervous system
-
Taraviras S, Marcos-Gutierrez CV, Durbec P, Jani H, Grigoriou M, et al. (1999) Signalling by the RET receptor tyrosine kinase and its role in the development of the mammalian enteric nervous system. Development 126: 2785-2797.
-
(1999)
Development
, vol.126
, pp. 2785-2797
-
-
Taraviras, S.1
Marcos-Gutierrez, C.V.2
Durbec, P.3
Jani, H.4
Grigoriou, M.5
-
37
-
-
27944491601
-
Phenotypes of neural-crest derived cells in vagal and sacral pathways
-
Anderson RB, Stewart AL, Young HM, (2006) Phenotypes of neural-crest derived cells in vagal and sacral pathways. Cell Tissue Res 323: 11-25.
-
(2006)
Cell Tissue Res
, vol.323
, pp. 11-25
-
-
Anderson, R.B.1
Stewart, A.L.2
Young, H.M.3
-
38
-
-
33846809120
-
Cell proliferation drives neural crest cell invasion of the intestine
-
Simpson MJ, Zhang DC, Mariani M, Landman KA, Newgreen DF, (2007) Cell proliferation drives neural crest cell invasion of the intestine. Dev Biol 302: 553-568.
-
(2007)
Dev Biol
, vol.302
, pp. 553-568
-
-
Simpson, M.J.1
Zhang, D.C.2
Mariani, M.3
Landman, K.A.4
Newgreen, D.F.5
-
39
-
-
27744519605
-
The pattern of neural crest advance in the cecum and colon
-
Druckenbrod NR, Epstein ML, (2005) The pattern of neural crest advance in the cecum and colon. Dev Biol 287: 125-133.
-
(2005)
Dev Biol
, vol.287
, pp. 125-133
-
-
Druckenbrod, N.R.1
Epstein, M.L.2
-
40
-
-
0036832278
-
Requirement of signalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis
-
Natarajan D, Marcos-Gutierrez C, Pachnis V, de Graaff E, (2002) Requirement of signalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis. Development 129: 5151-5160.
-
(2002)
Development
, vol.129
, pp. 5151-5160
-
-
Natarajan, D.1
Marcos-Gutierrez, C.2
Pachnis, V.3
de Graaff, E.4
-
41
-
-
33846243870
-
Behavior of enteric neural crest-derived cells varies with respect to the migratory wavefront
-
Druckenbrod NR, Epstein ML, (2007) Behavior of enteric neural crest-derived cells varies with respect to the migratory wavefront. Dev Dyn 236: 84-92.
-
(2007)
Dev Dyn
, vol.236
, pp. 84-92
-
-
Druckenbrod, N.R.1
Epstein, M.L.2
-
42
-
-
2942625882
-
Dynamics of neural crest-derived cell migration in the embryonic mouse gut
-
Young HM, Bergner AJ, Anderson RB, Enomoto H, Milbrandt J, et al. (2004) Dynamics of neural crest-derived cell migration in the embryonic mouse gut. Dev Biol 270: 455-473.
-
(2004)
Dev Biol
, vol.270
, pp. 455-473
-
-
Young, H.M.1
Bergner, A.J.2
Anderson, R.B.3
Enomoto, H.4
Milbrandt, J.5
|