-
1
-
-
0022473141
-
The naevoid basal cell carcinoma syndrome
-
Springate JE: The naevoid basal cell carcinoma syndrome. J Pediatr Surg 1986;21:908-10.
-
(1986)
J. Pediatr. Surg.
, vol.21
, pp. 908-910
-
-
Springate, J.E.1
-
2
-
-
0028271569
-
Nevoid basal cell carcinoma syndrome: Review of 118 affected individuals
-
Shanley S, Ratcliffe J, Hockey A, et al: Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet 1994;50:282-90.
-
(1994)
Am. J. Med. Genet.
, vol.50
, pp. 282-290
-
-
Shanley, S.1
Ratcliffe, J.2
Hockey, A.3
-
3
-
-
0023222358
-
Nevoid basal-cell carcinoma syndrome
-
Gorlin RJ: Nevoid basal-cell carcinoma syndrome. Medicine 1987;66:98-113.
-
(1987)
Medicine
, vol.66
, pp. 98-113
-
-
Gorlin, R.J.1
-
4
-
-
0027231001
-
Complications of the naevoid basal cell carcinoma syndrome: Results of a population based study
-
Evans DGR, Ladusans EJ, Rimmer S, et al: Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 1993;30:460-4.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 460-464
-
-
Evans, D.G.R.1
Ladusans, E.J.2
Rimmer, S.3
-
6
-
-
15844386165
-
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome
-
Hahn H, Wicking C, Zaphiropoulos PG, et al: Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996;85:841-51.
-
(1996)
Cell
, vol.85
, pp. 841-851
-
-
Hahn, H.1
Wicking, C.2
Zaphiropoulos, P.G.3
-
7
-
-
0031002840
-
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome
-
Kimonis VE, Goldstein AM, Pastakia B, et al: Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 1997;69:299-308.
-
(1997)
Am. J. Med. Genet.
, vol.69
, pp. 299-308
-
-
Kimonis, V.E.1
Goldstein, A.M.2
Pastakia, B.3
-
8
-
-
0034609819
-
Skin abnormalities generated by temporally controlled RXRalpha mutations in mouse epidermis
-
Li M, Indra AK, Warot X, et al: Skin abnormalities generated by temporally controlled RXRalpha mutations in mouse epidermis. Nature 2000;407:633-6.
-
(2000)
Nature
, vol.407
, pp. 633-636
-
-
Li, M.1
Indra, A.K.2
Warot, X.3
-
9
-
-
0033571243
-
Temporally-controlled site-specific mutagenesis in the basal layer of the epidermis: Comparison of the recombinase activity of the tamoxifen-inducible Cre-ER(T) and Cre-ER(T2) recombinases
-
Indra AK, Warot X, Brocard J, et al: Temporally-controlled site-specific mutagenesis in the basal layer of the epidermis: comparison of the recombinase activity of the tamoxifen-inducible Cre-ER(T) and Cre-ER(T2) recombinases. Nucleic Acids Res 1999;27:4324-7.
-
(1999)
Nucleic Acids Res
, vol.27
, pp. 4324-4327
-
-
Indra, A.K.1
Warot, X.2
Brocard, J.3
-
10
-
-
0034443374
-
PTCH gene mutations in odontogenic keratocysts
-
Barreto DC, Gomez RS, Bale AE, et al: PTCH gene mutations in odontogenic keratocysts. J Dent Res 2000;79:1418-22.
-
(2000)
J. Dent. Res.
, vol.79
, pp. 1418-1422
-
-
Barreto, D.C.1
Gomez, R.S.2
Bale, A.E.3
-
11
-
-
0027433113
-
Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
-
Ganguly A, Rock MJ, Prockop DJ: Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993;90:10325-9.
-
(1993)
Proc. Natl. Acad. Sci. USA
, vol.90
, pp. 10325-10329
-
-
Ganguly, A.1
Rock, M.J.2
Prockop, D.J.3
-
12
-
-
0026627965
-
Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9
-
Gailani MR, Bale SJ, Leffell DJ, et al: Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell 1992;69:111-7.
-
(1992)
Cell
, vol.69
, pp. 111-117
-
-
Gailani, M.R.1
Bale, S.J.2
Leffell, D.J.3
-
13
-
-
15844381336
-
Human homolog of patched, a candidate gene for the basal cell nevus syndrome
-
Johnson RL, Rothman AL, Xie J, et al: Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 1996;272:1668-71.
-
(1996)
Science
, vol.272
, pp. 1668-1671
-
-
Johnson, R.L.1
Rothman, A.L.2
Xie, J.3
-
14
-
-
0031420294
-
Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome
-
Lench NJ, Telford EA, High AS, et al: Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome. Hum Genet 1997;100:497-502.
-
(1997)
Hum. Genet.
, vol.100
, pp. 497-502
-
-
Lench, N.J.1
Telford, E.A.2
High, A.S.3
-
15
-
-
12844276949
-
Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident
-
Wicking C, Shanley S, Smyth I, et al: Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. Am J Hum Genet 1997;60:21-6.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 21-26
-
-
Wicking, C.1
Shanley, S.2
Smyth, I.3
-
16
-
-
0031837549
-
Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome
-
Aszterbaum M, Rothman A, Johnson RL, et al: Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. J Invest Dermatol 1998;110:885-8.
-
(1998)
J. Invest. Dermatol.
, vol.110
, pp. 885-888
-
-
Aszterbaum, M.1
Rothman, A.2
Johnson, R.L.3
-
17
-
-
0031744766
-
The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome
-
Smyth I, Wicking C, Wainwright B, et al: The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome. Hum Genet 1998;102:598-601.
-
(1998)
Hum. Genet.
, vol.102
, pp. 598-601
-
-
Smyth, I.1
Wicking, C.2
Wainwright, B.3
-
18
-
-
0030034250
-
A two-hit model for developmental defects in Gorlin syndrome
-
Levanat S, Gorlin RJ, Fallet S, et al: A two-hit model for developmental defects in Gorlin syndrome. Nat Genet 1996;12:85-7.
-
(1996)
Nat. Genet.
, vol.12
, pp. 85-87
-
-
Levanat, S.1
Gorlin, R.J.2
Fallet, S.3
-
19
-
-
0015043748
-
Mutation and cancer: Statistical study of retinoblastoma
-
Knudson AG Jr: Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971;68:820-3.
-
(1971)
Proc. Natl. Acad. Sci. USA
, vol.68
, pp. 820-823
-
-
Knudson Jr., A.G.1
-
20
-
-
0034011273
-
Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SSH and HLXB9 haploin-sufficiency
-
Nowaczyk MJ, Huggins MJ, Tomkins DJ, et al: Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SSH and HLXB9 haploin-sufficiency. Clin Genet 2000;57:388-93.
-
(2000)
Clin. Genet.
, vol.57
, pp. 388-393
-
-
Nowaczyk, M.J.1
Huggins, M.J.2
Tomkins, D.J.3
-
21
-
-
0028058986
-
Human haploinsufficiency-one for sorrow, two for joy
-
Fisher E, Scabler P: Human haploinsufficiency-one for sorrow, two for joy. Nat Genet 1994;7:5-7.
-
(1994)
Nat. Genet.
, vol.7
, pp. 5-7
-
-
Fisher, E.1
Scabler, P.2
|