-
1
-
-
0028225023
-
Familial occurrence of Hirschsprung's disease
-
Russell MB, Russell CA, Fenger K, et al: Familial occurrence of Hirschsprung's disease. Clin Genet 45:231-235, 1994
-
(1994)
Clin Genet
, vol.45
, pp. 231-235
-
-
Russell, M.B.1
Russell, C.A.2
Fenger, K.3
-
2
-
-
0028120882
-
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
-
Romeo G, Ronchetto P, Yin L, et al: Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 367:377-378, 1994
-
(1994)
Nature
, vol.367
, pp. 377-378
-
-
Romeo, G.1
Ronchetto, P.2
Yin, L.3
-
3
-
-
0027972513
-
Mutations of the RET proto-oncogene in Hirschsprung's disease
-
Edery P, Lyonnet S, Mulligan LM, et al: Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 367:378-380, 1994
-
(1994)
Nature
, vol.367
, pp. 378-380
-
-
Edery, P.1
Lyonnet, S.2
Mulligan, L.M.3
-
4
-
-
0028618372
-
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
-
Puffenberger EG, Hosoda K, Washington SS, et al: A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79:1257-1266, 1994
-
(1994)
Cell
, vol.79
, pp. 1257-1266
-
-
Puffenberger, E.G.1
Hosoda, K.2
Washington, S.S.3
-
5
-
-
0009675716
-
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype
-
Hofstra RM, Osinga J, Tan-Sindhunata G, et al: A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype. Nature Genetics 12:445-447, 1996
-
(1996)
Nature Genetics
, vol.12
, pp. 445-447
-
-
Hofstra, R.M.1
Osinga, J.2
Tan-Sindhunata, G.3
-
6
-
-
0006457459
-
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
-
Edery P, Attie T, Amiel J, et al: Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nature Genet 12:442-444, 1996
-
(1996)
Nature Genet
, vol.12
, pp. 442-444
-
-
Edery, P.1
Attie, T.2
Amiel, J.3
-
7
-
-
0018258118
-
Diagnostik und Therapie der Achalasie
-
Weinbeck M: Diagnostik und Therapie der Achalasie. Internistische Welt 12:392-400, 1978
-
(1978)
Internistische Welt
, vol.12
, pp. 392-400
-
-
Weinbeck, M.1
-
8
-
-
0026740168
-
Five years prospective study of the incidence, clinical features, and diagnosis of achalasia in Edinburgh
-
Howard PJ, Maher L, Pryde A, et al: Five years prospective study of the incidence, clinical features, and diagnosis of achalasia in Edinburgh. Gut 33:1011-1015, 1992
-
(1992)
Gut
, vol.33
, pp. 1011-1015
-
-
Howard, P.J.1
Maher, L.2
Pryde, A.3
-
9
-
-
0002804385
-
-
Weatherall DJ (ed). Edinburgh, Scotland, Churchill Livingstone
-
Old JM, Higgs DR: Methods in Haematology, in Weatherall DJ (ed). Edinburgh, Scotland, Churchill Livingstone, 1993, p 74
-
(1993)
Methods in Haematology
, pp. 74
-
-
Old, J.M.1
Higgs, D.R.2
-
10
-
-
0030036426
-
RET Mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia
-
Hofstra RM, Sijmons RH, Stelwagen T, et al: RET Mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia. J Invest Dermatol 107:215-218, 1996
-
(1996)
J Invest Dermatol
, vol.107
, pp. 215-218
-
-
Hofstra, R.M.1
Sijmons, R.H.2
Stelwagen, T.3
-
12
-
-
0028964473
-
Impaired proliferative activity of mesenchymal cells affects the migratory pathway for neural crest cells in the developing gut of mutant murine embryos
-
Shimotake T, Iwai N, Yanagihara J, et al: Impaired proliferative activity of mesenchymal cells affects the migratory pathway for neural crest cells in the developing gut of mutant murine embryos. J Pediatr Surg 30:445, 1995
-
(1995)
J Pediatr Surg
, vol.30
, pp. 445
-
-
Shimotake, T.1
Iwai, N.2
Yanagihara, J.3
-
13
-
-
0028797084
-
Pathogenetic aspects of Hirschsprung's disease. Br
-
Molenaar JC: Pathogenetic aspects of Hirschsprung's disease. Br J Surg 82:145-147, 1995
-
(1995)
J Surg
, vol.82
, pp. 145-147
-
-
Molenaar, J.C.1
-
14
-
-
0027374088
-
Familial Hirschsprung's disease: 20 cases in 12 kindreds
-
Engum SA, Petrites M, Rescorla FJ, et al: Familial Hirschsprung's disease: 20 cases in 12 kindreds. J Pediatr Surg 28:1286-1290, 1993
-
(1993)
J Pediatr Surg
, vol.28
, pp. 1286-1290
-
-
Engum, S.A.1
Petrites, M.2
Rescorla, F.J.3
-
15
-
-
0028174023
-
Defects in kidney and enteric nervous system of mice lacking the tyrosine kinase receptor RET
-
Schuchardt A, D'Agati V, Larsson-Blomberg L, et al: Defects in kidney and enteric nervous system of mice lacking the tyrosine kinase receptor RET. Nature 367:380-383, 1994
-
(1994)
Nature
, vol.367
, pp. 380-383
-
-
Schuchardt, A.1
D'Agati, V.2
Larsson-Blomberg, L.3
-
16
-
-
0029119781
-
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung's disease
-
Attie T, Pelet A, Edery P, et al: Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung's disease. Hum Mol Genet 4:1381-1386, 1995
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1381-1386
-
-
Attie, T.1
Pelet, A.2
Edery, P.3
-
17
-
-
0026691377
-
Achalasia: New thoughts on an old disease
-
Farr CM: Achalasia: New thoughts on an old disease. J Clin Gastroenterol 15:2-4, 1992
-
(1992)
J Clin Gastroenterol
, vol.15
, pp. 2-4
-
-
Farr, C.M.1
-
18
-
-
0027495157
-
Patients with achalasia lack nitric oxide synthetase in the gastro-oesophageal junction
-
Mearin F, Mourelle M, Guarner F, et al: Patients with achalasia lack nitric oxide synthetase in the gastro-oesophageal junction. Eur J Clin Invest 23:724-728, 1993
-
(1993)
Eur J Clin Invest
, vol.23
, pp. 724-728
-
-
Mearin, F.1
Mourelle, M.2
Guarner, F.3
-
19
-
-
0028158547
-
Duodenal and oesophageal manometry in total colonic aganglionosis
-
Faure C, Ategbo S, Ferreira GC, et al: Duodenal and oesophageal manometry in total colonic aganglionosis. J Pediatr Gastroenterol Nutr 18:193-199, 1994
-
(1994)
J Pediatr Gastroenterol Nutr
, vol.18
, pp. 193-199
-
-
Faure, C.1
Ategbo, S.2
Ferreira, G.C.3
|