-
1
-
-
0015195957
-
Ueber ein Erkrankungsblid des Colon mit Hirschsprung Symptomatik
-
Meier-Ruge W: Ueber ein Erkrankungsblid des Colon mit Hirschsprung Symptomatik. Verh Dtsch Ges Pathol 59: 506-510, 1971.
-
(1971)
Verh Dtsch Ges Pathol
, vol.59
, pp. 506-510
-
-
Meier-Ruge, W.1
-
2
-
-
0020973712
-
Neuronal intestinal dysplasia. Critical 10-years' analysis of clinical and biopsy diagnosis
-
Fadda B, Maier WA, Meier-Ruge W, Schärli A and Daum R: Neuronal intestinal dysplasia. Critical 10-years' analysis of clinical and biopsy diagnosis. Z Kinderchir 38: 305-311, 1983.
-
(1983)
Z Kinderchir
, vol.38
, pp. 305-311
-
-
Fadda, B.1
Maier, W.A.2
Meier-Ruge, W.3
Schärli, A.4
Daum, R.5
-
3
-
-
33845940106
-
Intestinal neuronal dysplasia type B: One giant ganglion is not good enough
-
DOI 10.2350/06-06-0109.1
-
Meier-Ruge WA, Bruder E and Kapur RP: Intestinal neuronal dysplasia type B: one giant ganglion is not good enough. Pediatr Dev Pathol 9: 444-452, 2006. (Pubitemid 46031170)
-
(2006)
Pediatric and Developmental Pathology
, vol.9
, Issue.6
, pp. 444-452
-
-
Meier-Ruge, W.A.1
Bruder, E.2
Kapur, R.P.3
-
4
-
-
12344277394
-
Variant Hirschsprung's disease
-
Puri P and Rolle U: Variant Hirschsprung's disease. Semin Pediatr Surg 13: 293-299, 2004.
-
(2004)
Semin Pediatr Surg
, vol.13
, pp. 293-299
-
-
Puri, P.1
Rolle, U.2
-
5
-
-
38349112858
-
Hirschsprung disease, associated syndromes and genetics: A review
-
DOI 10.1136/jmg.2007.053959
-
Amiel J, Sproat-Emison E, Garcia-Barcelo M, et al: Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet 45: 1-14, 2008. (Pubitemid 351158152)
-
(2008)
Journal of Medical Genetics
, vol.45
, Issue.1
, 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
Brooks, A.S.11
Antinolo, G.12
De Pontual, L.13
Clement-Ziza, M.14
Munnich, A.15
Kashuk, C.16
West, K.17
Wong, K.K.-Y.18
Lyonnet, S.19
Chakravarti, A.20
Tam, P.K.-H.21
Ceccherini, I.22
Hofstra, R.M.W.23
Fernandez, R.24
more..
-
6
-
-
17244383525
-
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
-
Emison ES, McCallion AS, Kashuk CS, et al: A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 434: 857-863, 2005.
-
(2005)
Nature
, vol.434
, pp. 857-863
-
-
Emison, E.S.1
McCallion, A.S.2
Kashuk, C.S.3
-
7
-
-
17144373665
-
Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249
-
Fernandez RM, Boru G, Peciña A, et al: Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249. J Med Genet 42: 322-327, 2005.
-
(2005)
J Med Genet
, vol.42
, pp. 322-327
-
-
Fernandez, R.M.1
Boru, G.2
Peciña, A.3
-
8
-
-
0029924529
-
Exclusion of linkage between RET and neuronal intestinal dysplasia type B
-
DOI 10.1002/(SICI)1096-8628(19960315)62:2<195::AID-AJMG15>3.0.CO;2- J
-
Barone V, Weber D, Luo Y, Brancolini V, Devoto M and Romeo G: Exclusion of linkage between RET and neuronal intestinal dysplasia type B. Am J Med Genet 62: 195-198, 1996. (Pubitemid 26090232)
-
(1996)
American Journal of Medical Genetics
, vol.62
, Issue.2
, pp. 195-198
-
-
Barone, V.1
Weber, D.2
Luo, Y.3
Brancolini, V.4
Devoto, M.5
Romeo, G.6
-
9
-
-
0035035064
-
Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease
-
Gath R, Goessling A, Keller KM, et al: Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease. Gut 48: 671-675, 2001.
-
(2001)
Gut
, vol.48
, pp. 671-675
-
-
Gath, R.1
Goessling, A.2
Keller, K.M.3
-
10
-
-
33751079621
-
A complex additive model of inheritance for HSCR is supported by both RET mutations and predisposing RET haplotypes
-
Ruiz-Ferrer M, Fernandez RM, Antiñolo G, López-Alonso M, Eng C and Borrego S: A complex additive model of inheritance for HSCR is supported by both RET mutations and predisposing RET haplotypes. Genet Med 8: 704-710, 2006.
-
(2006)
Genet Med
, vol.8
, pp. 704-710
-
-
Ruiz-Ferrer, M.1
Fernandez, R.M.2
Antiñolo, G.3
López-Alonso, M.4
Eng, C.5
Borrego, S.6
-
11
-
-
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, Sáez ME, Ruiz A, et al: 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.
-
(1999)
J Med Genet
, vol.36
, pp. 771-774
-
-
Borrego, S.1
Sáez, M.E.2
Ruiz, A.3
-
12
-
-
0033854456
-
RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease
-
Borrego S, Ruiz A, Saez ME, et al: RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. J Med Genet 37: 572-578, 2000.
-
(2000)
J Med Genet
, vol.37
, pp. 572-578
-
-
Borrego, S.1
Ruiz, A.2
Saez, M.E.3
-
13
-
-
18344384747
-
Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma
-
Lesueur F, Corbex M, McKay JD, et al: Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma. J Med Genet 39: 260-265, 2002.
-
(2002)
J Med Genet
, vol.39
, pp. 260-265
-
-
Lesueur, F.1
Corbex, M.2
McKay, J.D.3
-
14
-
-
0242288679
-
Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset
-
McWhinney SR, Boru G, Binkley PK, et al: Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset. J Clin Endocrinol Metab 88, 4911-4916, 2003.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 4911-4916
-
-
McWhinney, S.R.1
Boru, G.2
Binkley, P.K.3
-
15
-
-
0028566385
-
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene
-
Mulligan LM, Eng C, Attié T, et al: Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet 3: 2163-2167, 1994.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2163-2167
-
-
Mulligan, L.M.1
Eng, C.2
Attié, T.3
-
16
-
-
18844454777
-
Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan
-
Wu TT, Tsai TW, Chu CT, et al: Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan. J Hum Genet 50, 168-174, 2005.
-
(2005)
J Hum Genet
, vol.50
, pp. 168-174
-
-
Wu, T.T.1
Tsai, T.W.2
Chu, C.T.3
-
17
-
-
0029050368
-
Loss of function effect of RET mutations causing Hirschsprung disease
-
Pasini B, Borrello MG, Greco A, et al: Loss of function effect of RET mutations causing Hirschsprung disease. Nat Genet 10: 35-40, 1995.
-
(1995)
Nat Genet
, vol.10
, pp. 35-40
-
-
Pasini, B.1
Borrello, M.G.2
Greco, A.3
-
18
-
-
0033973161
-
Incidence of RET mutations in patients with Hirschsprung's disease
-
Sancandi M, Ceccherini I, Costa M, et al: Incidence of RET mutations in patients with Hirschsprung's disease. J Pediatr Surg 35: 139-142, 2000.
-
(2000)
J Pediatr Surg
, vol.35
, pp. 139-142
-
-
Sancandi, M.1
Ceccherini, I.2
Costa, M.3
|