Incidence of RET mutations in patients with Hirschsprung's disease
(11)
Sancandi, M
a,b,c,d,e
Ceccherini, I
a,b,c,d,e
Costa, M
a,b,c,d,e
Fava, M
a,b,c,d,e
Chen, B
a,b,c,d,e
Wu, Y
a,b,c,d,e
Hofstra, R
a,b,c,d,e
Laurie, T
a,b,c,d,e
Griffths, M
a,b,c,d,e
Burge, D
a,b,c,d,e
Tam, P K H
a,b,c,d,e
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-
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-
-
0014210694
-
Genetics of Hirschsprung's disease
-
E Pessarge Genetics of Hirschsprung's disease N Engl J Med 276 1967 138 143
-
(1967)
N Engl J Med
, vol.276
, pp. 138-143
-
-
Pessarge, E1
-
2
-
-
9044231726
-
Hirschsprung's disease, in Lister J
-
J Lister PKH Tam Hirschsprung's disease, in Lister J ed 3 IM Irving Neonatal Surgery 1990 Butterworths London, England 523 546
-
(1990)
, pp. 523-546
-
-
Lister, J1
Tam, PKH2
-
3
-
-
85120094804
-
Association of megacolon with two recessive spotting genes in the mouse
-
PW Lane Association of megacolon with two recessive spotting genes in the mouse J Hered 57 1996 181 183
-
(1996)
J Hered
, vol.57
, pp. 181-183
-
-
Lane, PW1
-
4
-
-
0028120882
-
Points mutations affecting the tyrosine kinase domain of the RET psoto-oncogene in Hirschsprung's disease
-
G Romeo P Ronchetto Y Luo Points mutations affecting the tyrosine kinase domain of the RET psoto-oncogene in Hirschsprung's disease Nature 367 1994 377 378
-
(1994)
Nature
, vol.367
, pp. 377-378
-
-
Romeo, G1
Ronchetto, P2
Luo, Y3
-
5
-
-
0027972513
-
Mutations of the RET proto-oncogene in Hirschsprung's disease
-
P Edery S Lyonnet LM Mulligan Mutations of the RET proto-oncogene in Hirschsprung's disease Nature 367 1994 378 380
-
(1994)
Nature
, vol.367
, pp. 378-380
-
-
Edery, P1
Lyonnet, S2
Mulligan, LM3
-
6
-
-
9044220230
-
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung's disease
-
J Amiel T Attie D Jan Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung's disease Hum Mol Genet 5 1996 355 357
-
(1996)
Hum Mol Genet
, vol.5
, pp. 355-357
-
-
Amiel, J1
Attie, T2
Jan, D3
-
7
-
-
0009675716
-
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
-
RMW Hofstra J Osinga G Tan-Sindhunata A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome) Nat Genet 12 1996 445 447
-
(1996)
Nat Genet
, vol.12
, pp. 445-447
-
-
Hofstra, RMW1
Osinga, J2
Tan-Sindhunata, G3
-
8
-
-
0031940499
-
Dual genetic pathways of endothelin-irradiated intercellular signalling revealed by targeted disruption of endothelin converting enzyme-1 gene
-
H Yanagisawa M Yanagisawa RP Kapur Dual genetic pathways of endothelin-irradiated intercellular signalling revealed by targeted disruption of endothelin converting enzyme-1 gene Development 125 1998 825 836
-
(1998)
Development
, vol.125
, pp. 825-836
-
-
Yanagisawa, H1
Yanagisawa, M2
Kapur, RP3
-
9
-
-
0030292383
-
Germline mutations in glial cell line-dervied neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient
-
M Angrist S Bolk M Halushka Germline mutations in glial cell line-dervied neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient Nat Genet 14 1996 341 344
-
(1996)
Nat Genet
, vol.14
, pp. 341-344
-
-
Angrist, M1
Bolk, S2
Halushka, M3
-
10
-
-
17344366171
-
SOX 10 mutations in patients with Waardenburg-Hirschsprung disease
-
V Pingault N Bondurand K Kuhlbrodt SOX 10 mutations in patients with Waardenburg-Hirschsprung disease Nat Genet 18 1998 171 173
-
(1998)
Nat Genet
, vol.18
, pp. 171-173
-
-
Pingault, V1
Bondurand, N2
Kuhlbrodt, K3
-
11
-
-
0029069528
-
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease
-
M Angrist S Bolk 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, M1
Bolk, S2
Thiel, B3
-
12
-
-
16944365710
-
Frequency of RET mutations in long- and short-segment Hirschsprung's disease
-
M Seri L Yin V Barone Frequency of RET mutations in long- and short-segment Hirschsprung's disease Hum Mutat 9 1997 243 249
-
(1997)
Hum Mutat
, vol.9
, pp. 243-249
-
-
Seri, M1
Yin, L2
Barone, V3
-
13
-
-
0029119781
-
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung's disease
-
T Attie A Pelet P Edery Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung's disease Hum Mol Genet 4 1995 1381 1386
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1381-1386
-
-
Attie, T1
Pelet, A2
Edery, P3
-
14
-
-
0030962660
-
Mutational analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease
-
T Kusafuka Y Wang P Puri Mutational analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease J Pediatr Surg 32 1997 501 504
-
(1997)
J Pediatr Surg
, vol.32
, pp. 501-504
-
-
Kusafuka, T1
Wang, Y2
Puri, P3
-
15
-
-
85120139742
-
Mutation detection in Hirschsprung patients: Which genes should be screened in which patients
-
PMW Hofstra J Osinga PS Rein Mutation detection in Hirschsprung patients: Which genes should be screened in which patients Presented at 3rd International Meeting: Hirschsprung's Disease and Related Neurocristopathies 1998
-
(1998)
-
-
Hofstra, PMW1
Osinga, J2
Rein, PS3
-
16
-
-
0031903612
-
Low frequency of RET mutations in Hirschsprung's disease in Sweden
-
PJ Svensson ML Molander C Eng Low frequency of RET mutations in Hirschsprung's disease in Sweden Clin Genet 54 1998 39 44
-
(1998)
Clin Genet
, vol.54
, pp. 39-44
-
-
Svensson, PJ1
Molander, ML2
Eng, C3
-
17
-
-
0031925226
-
Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung sydrome
-
T Sakai A Wakizaka H Matsuda Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung sydrome Pediatrics 101 1998 924 926
-
(1998)
Pediatrics
, vol.101
, pp. 924-926
-
-
Sakai, T1
Wakizaka, A2
Matsuda, H3
-
18
-
-
0030898313
-
Germline mutation of the RET proto-oncogene in children with total colonic aganglionosis
-
T Shimotake N Iwai K Inoue Germline mutation of the RET proto-oncogene in children with total colonic aganglionosis J Pediatr Surg 32 1997 498 500
-
(1997)
J Pediatr Surg
, vol.32
, pp. 498-500
-
-
Shimotake, T1
Iwai, N2
Inoue, K3
-
19
-
-
0028329089
-
Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2)-A further link with the neurocristopaties
-
MS Fewtrell PKH Tam AH Thompson Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2)-A further link with the neurocristopaties J Med Genet 31 1994 325 327
-
(1994)
J Med Genet
, vol.31
, pp. 325-327
-
-
Fewtrell, MS1
Tam, PKH2
Thompson, AH3
-
20
-
-
0027965639
-
DNA polymorphisms and condition for SSCP analysis of the 20 exons of the RET proto-oncogene
-
I Ceccherini R Hofstra L Yin DNA polymorphisms and condition for SSCP analysis of the 20 exons of the RET proto-oncogene Oncogene 9 1994 3025 3029
-
(1994)
Oncogene
, vol.9
, pp. 3025-3029
-
-
Ceccherini, I1
Hofstra, R2
Yin, L3
-
21
-
-
0033361767
-
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschprung disease
-
A Auricchio P Griseri L Carpentieri Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschprung disease Am J Hum Genet 64 1999 1216 1221
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1216-1221
-
-
Auricchio, A1
Griseri, P2
Carpentieri, L3
-
22
-
-
0029050368
-
Loss of function effect of RET mutations causing Hirschsprung disease
-
B Pasini MG Borrello A Greco Loss of function effect of RET mutations causing Hirschsprung disease Nat Genet 10 1995 35 40
-
(1995)
Nat Genet
, vol.10
, pp. 35-40
-
-
Pasini, B1
Borrello, MG2
Greco, A3
-
23
-
-
0030661735
-
Mutations in Hirschsprung disease: When does a mutation contribute to the phenotype
-
R Hofstra J Osinga C Buys Mutations in Hirschsprung disease: When does a mutation contribute to the phenotype Eur J Hum Genet 5 1997 180 185
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 180-185
-
-
Hofstra, R1
Osinga, J2
Buys, C3
-
24
-
-
0033545406
-
Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation
-
O Gimm DS Neuberg DJ Marsh Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation Oncogene 18 1999 1369 1373
-
(1999)
Oncogene
, vol.18
, pp. 1369-1373
-
-
Gimm, O1
Neuberg, DS2
Marsh, DJ3
|