-
2
-
-
0028566385
-
Diverse phenotypes associated with exon 10 mutations of the Ret proto-oncogene
-
Mulligan LM, Eng C, Attie T, Lyonnet S, Marsh DJ, Hyland V et al. Diverse phenotypes associated with exon 10 mutations of the Ret proto-oncogene. Human Mol Genet 1994; 3: 2163-7.
-
(1994)
Human Mol Genet
, vol.3
, pp. 2163-2167
-
-
Mulligan, L.M.1
Eng, C.2
Attie, T.3
Lyonnet, S.4
Marsh, D.J.5
Hyland, V.6
-
3
-
-
4244121593
-
Cosegregation of Hirschsprung disease (HSCR) and a Ret mutation in a French Canadian family with MEN-2A
-
Chretien P, Blanchard L, Gaboury L, Lacroix A, Verdy M, Villeneuve L. Cosegregation of Hirschsprung disease (HSCR) and a Ret mutation in a French Canadian family with MEN-2A. Am J Hum Genet 1994; 55: A357.
-
(1994)
Am J Hum Genet
, vol.55
-
-
Chretien, P.1
Blanchard, L.2
Gaboury, L.3
Lacroix, A.4
Verdy, M.5
Villeneuve, L.6
-
4
-
-
0028916234
-
Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung disease
-
Borst MJ, VanCamp JM, Peacock ML, Decker RA. Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung disease. Surgery 1995; 117: 386-91.
-
(1995)
Surgery
, vol.117
, pp. 386-391
-
-
Borst, M.J.1
VanCamp, J.M.2
Peacock, M.L.3
Decker, R.A.4
-
5
-
-
0030013621
-
C618R mutation in exon 10 of the Ret proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung disease
-
Caron P, Attie T, David D, Amiel J, Brousset F, Roger P et al. C618R mutation in exon 10 of the Ret proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung disease. J Clin Endocrin Metab 1996; 81: 2731-3.
-
(1996)
J Clin Endocrin Metab
, vol.81
, pp. 2731-2733
-
-
Caron, P.1
Attie, T.2
David, D.3
Amiel, J.4
Brousset, F.5
Roger, P.6
-
6
-
-
0029823617
-
Clinical presentations and Ret proto-oncogene mutations in seven multiple endocrine neoplasia type 2 kindreds
-
Blank RD, Sklar CA, Dimich AB, LaQuaglia MP, Brennan MF. Clinical presentations and Ret proto-oncogene mutations in seven multiple endocrine neoplasia type 2 kindreds. Cancer 1996; 78: 1996-2003.
-
(1996)
Cancer
, vol.78
, pp. 1996-2003
-
-
Blank, R.D.1
Sklar, C.A.2
Dimich, A.B.3
LaQuaglia, M.P.4
Brennan, M.F.5
-
7
-
-
16944365710
-
Detection of Ret mutations is higher among long segment than short segment Hirschsprung patients
-
Seri M, Yin L, Barone V, Bolino A, Celli J, Bocciardi R et al. Detection of Ret mutations is higher among long segment than short segment Hirschsprung patients. Human Mutation 1997; 9: 243-9.
-
(1997)
Human Mutation
, vol.9
, pp. 243-249
-
-
Seri, M.1
Yin, L.2
Barone, V.3
Bolino, A.4
Celli, J.5
Bocciardi, R.6
-
8
-
-
7144242670
-
Minisymposium: Multiple endocrine neoplasia type 1
-
abstract 347
-
Celli J et al. Minisymposium: Multiple endocrine neoplasia type 1 J Intern Med 1998; 243 (abstract 347).
-
(1998)
J Intern Med
, vol.243
-
-
Celli, J.1
-
9
-
-
0029069528
-
Mutation analysis of the Ret receptor tyrosine kinase in Hirschsprung disease
-
Angrist M, Bolk S, Thiel B, Puffenberger EG, Hofstra RM, Buys CHCM et al. Mutation analysis of the Ret receptor tyrosine kinase in Hirschsprung disease. Human Mol Genet 1995; 4: 821-30.
-
(1995)
Human Mol Genet
, vol.4
, pp. 821-830
-
-
Angrist, M.1
Bolk, S.2
Thiel, B.3
Puffenberger, E.G.4
Hofstra, R.M.5
Buys, C.H.C.M.6
-
10
-
-
4444272177
-
Minisymposium: Multiple endocrine neoplasia type 1
-
abstract 231
-
Hofstra R et al. Minisymposium: Multiple endocrine neoplasia type 1. J Intern Med 1998; 243 (abstract 231).
-
(1998)
J Intern Med
, vol.243
-
-
Hofstra, R.1
-
11
-
-
0020314519
-
Hirschsprung disease in a family with multiple endocrine neoplasia type 2
-
Verdy M, Weber AM, Roy CC, Morin CL, Cadotte M, Brochu P. Hirschsprung disease in a family with multiple endocrine neoplasia type 2. J Pediatr Gastroenterol Nutr 1982; 1: 603-7.
-
(1982)
J Pediatr Gastroenterol Nutr
, vol.1
, pp. 603-607
-
-
Verdy, M.1
Weber, A.M.2
Roy, C.C.3
Morin, C.L.4
Cadotte, M.5
Brochu, P.6
-
12
-
-
0027015239
-
Multiple endocrine neoplasia type 2B: 18 year follow-up of a four-generation family
-
Sizemore GW, Carney JA, Gharib H, Capen CC. Multiple endocrine neoplasia type 2B: 18 year follow-up of a four-generation family. Henry Ford Hosp Med J 1992; 40: 236-44.
-
(1992)
Henry Ford Hosp Med J
, vol.40
, pp. 236-244
-
-
Sizemore, G.W.1
Carney, J.A.2
Gharib, H.3
Capen, C.C.4
-
13
-
-
0017054250
-
Alimentary tract ganglioneuromatosis - A major component of the syndrome of multiple endocrine neoplasia type 2B
-
Carney JA, Go VLW, Sizemore GW, Haleys AB. Alimentary tract ganglioneuromatosis - a major component of the syndrome of multiple endocrine neoplasia type 2B. N Engl J Med 1976; 295: 1287.
-
(1976)
N Engl J Med
, vol.295
, pp. 1287
-
-
Carney, J.A.1
Go, V.L.W.2
Sizemore, G.W.3
Haleys, A.B.4
-
14
-
-
0024756969
-
A rapid and sensitive detection of point mutations and genetic polymorphism using polymerase chain reaction
-
Orita M, Suzuki Y, Sekiya T, Hayashi K. A rapid and sensitive detection of point mutations and genetic polymorphism using polymerase chain reaction. Genomics 1989; 5: 874-9.
-
(1989)
Genomics
, vol.5
, pp. 874-879
-
-
Orita, M.1
Suzuki, Y.2
Sekiya, T.3
Hayashi, K.4
-
15
-
-
0028329061
-
Mutation detection by denaturing gradient gel electrophoresis (DGGE)
-
Fodde R, Losekoor M. Mutation detection by denaturing gradient gel electrophoresis (DGGE). Human Mutation 1994; 3: 83-94.
-
(1994)
Human Mutation
, vol.3
, pp. 83-94
-
-
Fodde, R.1
Losekoor, M.2
-
16
-
-
0027965639
-
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the Rec proto-oncogene
-
Ceccherini I, Hofstra RMW, Yin L, Stulp RP, Barone V, Stelwagen T et al. DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the Rec proto-oncogene. Oncogene 1994; 9: 3025-9.
-
(1994)
Oncogene
, vol.9
, pp. 3025-3029
-
-
Ceccherini, I.1
Hofstra, R.M.W.2
Yin, L.3
Stulp, R.P.4
Barone, V.5
Stelwagen, T.6
-
17
-
-
78651153462
-
A direct coloring thiocholine method for cholinesterases
-
Karnowsty MJ, Root L. A direct coloring thiocholine method for cholinesterases. J Histochem Cytochem 1964; 12: 219.
-
(1964)
J Histochem Cytochem
, vol.12
, pp. 219
-
-
Karnowsty, M.J.1
Root, L.2
-
18
-
-
0023946790
-
Hirschsprung disease: Alphanaphthylesterase activity for enzyme histochemical evaluation of the extent of the aganglionic segment during surgery
-
Dodero P, Martucciello G, Hirschsprung disease: alphanaphthylesterase activity for enzyme histochemical evaluation of the extent of the aganglionic segment during surgery. Pediatr Surg Int 1988; 4: 169-274.
-
(1988)
Pediatr Surg Int
, vol.4
, pp. 169-274
-
-
Dodero, P.1
Martucciello, G.2
-
20
-
-
0018603994
-
Syndrome of multiple mucosal neuromas, medullary thyroid carcinoma, and pheochromocitoma: Cause of colon diverticula in children
-
Lucaya J, Sancho C, Bonnin J, Tormo R. Syndrome of multiple mucosal neuromas, medullary thyroid carcinoma, and pheochromocitoma: cause of colon diverticula in children. Am J Roentgenol 1979; 133: 1186-7.
-
(1979)
Am J Roentgenol
, vol.133
, pp. 1186-1187
-
-
Lucaya, J.1
Sancho, C.2
Bonnin, J.3
Tormo, R.4
-
21
-
-
0019398160
-
Multiple endocrine neoplasia type 2 (MEN-2)
-
Grun R, Eberle F, Multiple endocrine neoplasia type 2 (MEN-2). Ergebn Inn Med Kinderheilk 1981; 46: 151-201.
-
(1981)
Ergebn Inn Med Kinderheilk
, vol.46
, pp. 151-201
-
-
Grun, R.1
Eberle, F.2
-
22
-
-
0031018680
-
Prevalence and parental origin of de novo Ret mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma
-
Schuffenecker I, Ginet N, Goldgar D, Eng C, Chambe B, Boneu A et al. Prevalence and parental origin of de novo Ret mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Am J Hum Genet 1997; 60: 233-7.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 233-237
-
-
Schuffenecker, I.1
Ginet, N.2
Goldgar, D.3
Eng, C.4
Chambe, B.5
Boneu, A.6
-
23
-
-
0028019769
-
Parent-of-origin effects in multiple endocrine neoplasia type 2B
-
Carlson KM, Bracamontes J, Jackson CE, Clark R, Lacroix A, Wells Jr SA et al. Parent-of-origin effects in multiple endocrine neoplasia type 2B. Am J Hum Genet 1994; 55: 1076-82.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 1076-1082
-
-
Carlson, K.M.1
Bracamontes, J.2
Jackson, C.E.3
Clark, R.4
Lacroix, A.5
Wells Jr., S.A.6
-
24
-
-
0030453704
-
Prevalence and parental origin of de nova Ret mutations in Hirschsprung disease
-
Yin L, Seri M, Barone V, Tocco T, Scaranari M, Romeo G. Prevalence and parental origin of de nova Ret mutations in Hirschsprung disease. Eur J Hum Genet 1996; 4: 356-8.
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 356-358
-
-
Yin, L.1
Seri, M.2
Barone, V.3
Tocco, T.4
Scaranari, M.5
Romeo, G.6
-
25
-
-
0028087876
-
Phenotypic diversity. allelic series and modifier genes
-
Romeo G, McKusick V. Phenotypic diversity. allelic series and modifier genes. Nature Genet 1994; 7: 451-3.
-
(1994)
Nature Genet
, vol.7
, pp. 451-453
-
-
Romeo, G.1
McKusick, V.2
|