-
1
-
-
0029957549
-
Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders
-
Bateman A, Jouet M, MacFarlane J, Du JS, Kenwrick S, Chothia C (1996) Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders. EMBO J 15:6050-6059.
-
(1996)
EMBO J
, vol.15
, pp. 6050-6059
-
-
Bateman, A.1
Jouet, M.2
MacFarlane, J.3
Du, J.S.4
Kenwrick, S.5
Chothia, C.6
-
2
-
-
6844241220
-
Are splice sites involved in mutations representative of the "average" splice set'
-
United Kingdom: BIOS Scientific Publishers Ltd.
-
Cooper Dn, Krawczak M (1995) Are splice sites involved in mutations representative of the "average" splice set' In Human Gene Mutation. United Kingdom: BIOS Scientific Publishers Ltd., p 244.
-
(1995)
Human Gene Mutation
, pp. 244
-
-
Cooper, Dn.1
Krawczak, M.2
-
3
-
-
0024021305
-
Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations
-
Cotton RG, Rodrigues NR, Campbell RD (1988) Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci USA 85:4397-4401.
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 4397-4401
-
-
Cotton, R.G.1
Rodrigues, N.R.2
Campbell, R.D.3
-
4
-
-
0001430252
-
DNA fragments differing by a single base-pair substitution are separated in denaturing gradient gels: Correspondence with melting theory
-
Fischer SG, Lerman LS (1983) DNA fragments differing by a single base-pair substitution are separated in denaturing gradient gels: Correspondence with melting theory. Proc Natl Acad Sci USA 80:1579-1583.
-
(1983)
Proc Natl Acad Sci USA
, vol.80
, pp. 1579-1583
-
-
Fischer, S.G.1
Lerman, L.S.2
-
6
-
-
0028876309
-
CRASH syndrome. Clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1
-
Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ (1995) CRASH syndrome. Clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. Eur J Hum Genet 3.273-284.
-
(1995)
Eur J Hum Genet
, vol.3
, pp. 273-284
-
-
Fransen, E.1
Lemmon, V.2
Van Camp, G.3
Vits, L.4
Coucke, P.5
Willems, P.J.6
-
7
-
-
0027487271
-
Optimization of the single-strand conformation polynorphism (SSCP) technique for detection of point mutations
-
Glavac D, Dean M (1993) Optimization of the single-strand conformation polynorphism (SSCP) technique for detection of point mutations. Hum Mutat 2:404-414
-
(1993)
Hum Mutat
, vol.2
, pp. 404-414
-
-
Glavac, D.1
Dean, M.2
-
8
-
-
0027435938
-
The rapid detection of unknown mutations in nucleic acids
-
Grompe M (1993) The rapid detection of unknown mutations in nucleic acids. Nat Genet 5:111-117.
-
(1993)
Nat Genet
, vol.5
, pp. 111-117
-
-
Grompe, M.1
-
9
-
-
0030063438
-
Five novel mutations in the L1CAM gene in families with X-linked hydrocephalus
-
Gu SM, Orth U, Veske A, Enders H, Klunder K, Schlosser M, Engel W, Schwinger E, Gal A (1996) Five novel mutations in the L1CAM gene in families with X-linked hydrocephalus. J Med Genet 33:103-106.
-
(1996)
J Med Genet
, vol.33
, pp. 103-106
-
-
Gu, S.M.1
Orth, U.2
Veske, A.3
Enders, H.4
Klunder, K.5
Schlosser, M.6
Engel, W.7
Schwinger, E.8
Gal, A.9
-
10
-
-
0027434131
-
How sensitive is PCR-SSCP?
-
Hayashi K, Yandell DW (1993) How sensitive is PCR-SSCP? Hum Mutat 2 338-346.
-
(1993)
Hum Mutat
, vol.2
, pp. 338-346
-
-
Hayashi, K.1
Yandell, D.W.2
-
11
-
-
0028241952
-
X-linked spastic paraplegia (SPGI), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
-
Jouet L, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S (1994) X-linked spastic paraplegia (SPGI), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet 7:402-407.
-
(1994)
Nat Genet
, vol.7
, pp. 402-407
-
-
Jouet, L.1
Rosenthal, A.2
Armstrong, G.3
MacFarlane, J.4
Stevenson, R.5
Paterson, J.6
Metzenberg, A.7
Ionasescu, V.8
Temple, K.9
Kenwrick, S.10
-
12
-
-
0030029134
-
X-linked hydrocephalus and MASA syndrome
-
Kenwrick S, Jouet M, Donnai D (1996) X-linked hydrocephalus and MASA syndrome. J Med Genet 33.59-65.
-
(1996)
J Med Genet
, vol.33
, pp. 59-65
-
-
Kenwrick, S.1
Jouet, M.2
Donnai, D.3
-
13
-
-
0023476284
-
Computational simulation of DNA melting and its application to denaturing gel electrophoresis
-
Lerman LS, Silverstein K (1987) Computational simulation of DNA melting and its application to denaturing gel electrophoresis. Meth Enzymol 155:482-501.
-
(1987)
Meth Enzymol
, vol.155
, pp. 482-501
-
-
Lerman, L.S.1
Silverstein, K.2
-
14
-
-
0028800690
-
Restriction endonuclease fingerprinting (REF): A sensitive method for screening mutations in long, contiguous segments of DNA
-
Liu Q, Sommer SS (1995) Restriction endonuclease fingerprinting (REF): A sensitive method for screening mutations in long, contiguous segments of DNA. BioTech 18:470-477.
-
(1995)
BioTech
, vol.18
, pp. 470-477
-
-
Liu, Q.1
Sommer, S.S.2
-
15
-
-
0026755548
-
Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine α-aminotransferase gene
-
Michaud J, Brody LC, Steel G, Fontaine G, Martin LS, Valle D, Mitchell G (1992) Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine α-aminotransferase gene. Genomics 13.389-394.
-
(1992)
Genomics
, vol.13
, pp. 389-394
-
-
Michaud, J.1
Brody, L.C.2
Steel, G.3
Fontaine, G.4
Martin, L.S.5
Valle, D.6
Mitchell, G.7
-
16
-
-
0023476285
-
Detection and localization of single base changes by denaturing gradient gel electrophoresis
-
Myers RM, Maniatis T, Lerman LS (1987) Detection and localization of single base changes by denaturing gradient gel electrophoresis. Meth Enzymol 155:501-527.
-
(1987)
Meth Enzymol
, vol.155
, pp. 501-527
-
-
Myers, R.M.1
Maniatis, T.2
Lerman, L.S.3
-
17
-
-
0022353404
-
Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA: DNA duplexes
-
Myers RM, Larin Z, Maniatis T (1985) Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA: DNA duplexes Science 230:1242-1246.
-
(1985)
Science
, vol.230
, pp. 1242-1246
-
-
Myers, R.M.1
Larin, Z.2
Maniatis, T.3
-
18
-
-
0024595101
-
Detection of polymorphisms of human DNA by gel electrophoresis as single-stranded conformation polymorphisms
-
Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-stranded conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 2766-2770
-
-
Orita, M.1
Iwahana, H.2
Kanazawa, H.3
Hayashi, K.4
Sekiya, T.5
-
19
-
-
0027193630
-
The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
-
Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM (1993) The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 16:325-332.
-
(1993)
Genomics
, vol.16
, pp. 325-332
-
-
Sheffield, V.C.1
Beck, J.S.2
Kwitek, A.E.3
Sandstrom, D.W.4
Stone, E.M.5
-
22
-
-
0028241953
-
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM
-
Vits L, Camp GV, Coucke P, Fransen E, Boulle KD, Reyniers E, Korn B, Poustka A, Wilson G, Schrander-Stumpel C, Winter RM, Schwartz C, Willens PJ (1994) MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Nat Genet 7:408-413.
-
(1994)
Nat Genet
, vol.7
, pp. 408-413
-
-
Vits, L.1
Camp, G.V.2
Coucke, P.3
Fransen, E.4
Boulle, K.D.5
Reyniers, E.6
Korn, B.7
Poustka, A.8
Wilson, G.9
Schrander-Stumpel, C.10
Winter, R.M.11
Schwartz, C.12
Willens, P.J.13
-
23
-
-
0026549893
-
Detecting single base substations as heteroduplex polymorphisms
-
White MB, Carvalho M, Derse D, O'Brien SJ, Dean M (1992) Detecting single base substations as heteroduplex polymorphisms. Genomics 12:301-306.
-
(1992)
Genomics
, vol.12
, pp. 301-306
-
-
White, M.B.1
Carvalho, M.2
Derse, D.3
O'Brien, S.J.4
Dean, M.5
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