-
1
-
-
0031455596
-
Coexistent Hirschsprung's disease and esophageal achalasia in male siblings
-
J.L. Kelly, T.M. Mulcahy, and D.S. O'Riodain Coexistent Hirschsprung's disease and esophageal achalasia in male siblings J. Pediatr. Surg. 32 1997 1809 1811
-
(1997)
J. Pediatr. Surg.
, vol.32
, pp. 1809-1811
-
-
Kelly, J.L.1
Mulcahy, T.M.2
O'Riodain, D.S.3
-
2
-
-
0016169528
-
The neurocristopathies-A unifying concept of disease arising in neural crest maldevelopment
-
R.P. Bolande The neurocristopathies-A unifying concept of disease arising in neural crest maldevelopment Hum. Pathol. 5 1974 409 429
-
(1974)
Hum. Pathol.
, vol.5
, pp. 409-429
-
-
Bolande, R.P.1
-
3
-
-
0036578787
-
Dissecting Hirschsprung disease
-
E. Passarge Dissecting Hirschsprung disease Nat. Genet. 31 2002 11 12
-
(2002)
Nat. Genet.
, vol.31
, pp. 11-12
-
-
Passarge, E.1
-
6
-
-
0034602646
-
A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
-
S. Bolk, A. Pelet, and R.W.M. Hofstra 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 2000 268 273
-
(2000)
Proc. Natl. Acad. Sci. U. S. A.
, vol.97
, pp. 268-273
-
-
Bolk, S.1
Pelet, A.2
Hofstra, R.W.M.3
-
7
-
-
0036832278
-
Requirement of signalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis
-
D. Natarajan, C. Marcos-Gutierrez, and V. Pachnis Requirement of signalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis Development 129 2002 5151 5160
-
(2002)
Development
, vol.129
, pp. 5151-5160
-
-
Natarajan, D.1
Marcos-Gutierrez, C.2
Pachnis, V.3
-
8
-
-
0027972513
-
Mutation of the RET proto-oncogene in Hirschsprung's disease
-
P. Edery, S. Lyonnet, and L.M. Mulligan Mutation of the RET proto-oncogene in Hirschsprung's disease Nature 367 1994 378 380
-
(1994)
Nature
, vol.367
, pp. 378-380
-
-
Edery, P.1
Lyonnet, S.2
Mulligan, L.M.3
-
9
-
-
0028120882
-
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
-
G. Romeo, P. Ronchetto, and Y. Luo Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease Nature 367 1994 377 378
-
(1994)
Nature
, vol.367
, pp. 377-378
-
-
Romeo, G.1
Ronchetto, P.2
Luo, Y.3
-
10
-
-
0029119781
-
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
-
T. Attié, A. Pelet, and P. Edery Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease Hum. Mol. Genet. 4 1995 1381 1386
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1381-1386
-
-
Attié, T.1
Pelet, A.2
Edery, P.3
-
11
-
-
0037029395
-
Association between c135G/A genotypes and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease
-
G. Fitze, J. Cramer, and A. Ziegler Association between c135G/A genotypes and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease Lancet 359 2002 1200 1205
-
(2002)
Lancet
, vol.359
, pp. 1200-1205
-
-
Fitze, G.1
Cramer, J.2
Ziegler, A.3
-
12
-
-
0035479144
-
The RET receptor: Function in development and dysfunction in congenital malformation
-
S. Maniè, M. Santoro, and A. Fusco The RET receptor: function in development and dysfunction in congenital malformation Trends Genet. 17 2001 580 589
-
(2001)
Trends Genet.
, vol.17
, pp. 580-589
-
-
Maniè, S.1
Santoro, M.2
Fusco, A.3
-
15
-
-
0018174739
-
Colonic and oesophageal disturbance in a patient with multiple endocrine neoplasia type 2b
-
J.A. Cuthbert, N.D. Gallagher, and J.R. Turtle Colonic and oesophageal disturbance in a patient with multiple endocrine neoplasia type 2b Aust. N. Z. J. Med. 8 1978 518 520
-
(1978)
Aust. N. Z. J. Med.
, vol.8
, pp. 518-520
-
-
Cuthbert, J.A.1
Gallagher, N.D.2
Turtle, J.R.3
-
16
-
-
0028116939
-
Achalasia of the cardia and multiple endocrine neoplasia 2B
-
P. Gosh, J. Linder, and T.F. Gallagher Achalasia of the cardia and multiple endocrine neoplasia 2B Am. J. Gastroenterol. 89 1994 1880 1883
-
(1994)
Am. J. Gastroenterol.
, vol.89
, pp. 1880-1883
-
-
Gosh, P.1
Linder, J.2
Gallagher, T.F.3
-
18
-
-
0027231568
-
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
-
L.M. Mulligan, J.B. Kwok, and C.S. Healey Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A Nature 363 1993 458 460
-
(1993)
Nature
, vol.363
, pp. 458-460
-
-
Mulligan, L.M.1
Kwok, J.B.2
Healey, C.S.3
-
19
-
-
0027303248
-
Mutations in the RET proto-oncogene are associated with MEN 2A and FTMC
-
H. Donis-Keller, S. Dou, and D. Chi Mutations in the RET proto-oncogene are associated with MEN 2A and FTMC Hum. Mol. Genet. 2 1993 851 856
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 851-856
-
-
Donis-Keller, H.1
Dou, S.2
Chi, D.3
-
20
-
-
0030896418
-
Mutations of the RET protooncogene in multiple endocrine neoplasia type 2, related sporadic tumours and Hirschsprung disease
-
C. Eng, and L.M. Mulligan Mutations of the RET protooncogene in multiple endocrine neoplasia type 2, related sporadic tumours and Hirschsprung disease Hum. Mutat. 9 1997 97 109
-
(1997)
Hum. Mutat.
, vol.9
, pp. 97-109
-
-
Eng, C.1
Mulligan, L.M.2
-
21
-
-
0028566385
-
Diverse phenotype associated with exon 10 mutations of the RET proto-oncogene
-
L.M. Mulligan, C. Eng, and T. Attie Diverse phenotype associated with exon 10 mutations of the RET proto-oncogene Hum. Mol. Genet. 3 1994 2163 2167
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 2163-2167
-
-
Mulligan, L.M.1
Eng, C.2
Attie, T.3
-
22
-
-
0029069528
-
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease
-
M. Angrist, S. Bolk, and B. Thiel Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease Hum. Mol. Genet. 4 1995 821 830
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 821-830
-
-
Angrist, M.1
Bolk, S.2
Thiel, B.3
-
23
-
-
0033054334
-
Co-Segregation of MEN2 and Hirschsprung's disease: The same mutation of RET with both gain and loss-of-function?
-
M. Takahashi, T. Iwashita, and M. Santoro Co-Segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function? Hum. Mutat. 13 1999 331 336
-
(1999)
Hum. Mutat.
, vol.13
, pp. 331-336
-
-
Takahashi, M.1
Iwashita, T.2
Santoro, M.3
|