-
2
-
-
0027320778
-
«cold SSCP»: A simple, rapid, and non-radioactive method for optimized single-strand conformation polymorphism analyses
-
T. Hongyo G. Buzard R. Calvert C. Weghorst 1993 «Cold SSCP»: A simple, rapid, and non-radioactive method for optimized single-strand conformation polymorphism analyses Nucleic Acids Research 21 3637 3642
-
(1993)
Nucleic Acids Research
, vol.21
, pp. 3637-3642
-
-
Hongyo, T.1
Buzard, G.2
Calvert, R.3
Weghorst, C.4
-
4
-
-
0025712580
-
Silver staining of proteins and DNA
-
C. R. Merril 1990 Silver staining of proteins and DNA Nature 343 779 780
-
(1990)
Nature
, vol.343
, pp. 779-780
-
-
Merril, C.R.1
-
5
-
-
0030699217
-
High resolution SSCP analysis using fornamide and ethidium bromide staining
-
T. Xie S. L. Ho O. C. K. Ma 1997 High resolution SSCP analysis using fornamide and ethidium bromide staining Molecular Pathology 50 276 278
-
(1997)
Molecular Pathology
, vol.50
, pp. 276-278
-
-
Xie, T.1
Ho, S.L.2
Ma, O.C.K.3
-
6
-
-
0028130568
-
Rapid and practical detection of β-globin mutations causing β-thalassemia by fluorescence-based PCR-single strand conformation polymorphism analysis
-
A. Takahashi Y. Ishino Y. Kato Y. Fukumaki 1994 Rapid and practical detection of β-globin mutations causing β-thalassemia by fluorescence-based PCR-single strand conformation polymorphism analysis Molecular and Cellular Probes 8 385 393
-
(1994)
Molecular and Cellular Probes
, vol.8
, pp. 385-393
-
-
Takahashi, A.1
Ishino, Y.2
Kato, Y.3
Fukumaki, Y.4
-
7
-
-
0344407000
-
Distribution and frequency of β-thalassemia mutations in northeastern and central Greece
-
I. Georgiou A. Makis A. Chaidos I. Bouda E. Hatzi V. Kranas C. Zilidis K. L. Bourantas 2003 Distribution and frequency of β-thalassemia mutations in northeastern and central Greece European Journal of Haematology 70 75 78
-
(2003)
European Journal of Haematology
, vol.70
, pp. 75-78
-
-
Georgiou, I.1
Makis, A.2
Chaidos, A.3
Bouda, I.4
Hatzi, E.5
Kranas, V.6
Zilidis, C.7
Bourantas, K.L.8
-
8
-
-
0031462204
-
Factor VIII gene mutations found by comparative study of SSCP, DGGE and CMC and their analysis on molecular model of factor VIII protein
-
R. Schwaab J. Oldenburg M. R. A. Lalloz U. Schwaab S. Pemberton P. Hanffland H. H. Brackmann E. G. D. Tuddenham K. Michaelides 1997 Factor VIII gene mutations found by comparative study of SSCP, DGGE and CMC and their analysis on molecular model of factor VIII protein Human Genetics 101 323 332
-
(1997)
Human Genetics
, vol.101
, pp. 323-332
-
-
Schwaab, R.1
Oldenburg, J.2
Lalloz, M.R.A.3
Schwaab, U.4
Pemberton, S.5
Hanffland, P.6
Brackmann, H.H.7
Tuddenham, E.G.D.8
Michaelides, K.9
-
9
-
-
0033230795
-
Rapid detection of CYP1A1, CYP2D6, and NAT variants by multiplex polymerase chain reaction and allele-specific oligonucleotide assay
-
D. Labuda M. Krajinovic C. Richer A. Skoll H. Sinnet V. Yotova D. Sinnett 1999 Rapid detection of CYP1A1, CYP2D6, and NAT variants by multiplex polymerase chain reaction and allele-specific oligonucleotide assay Analytical Biochemistry 275 84 92
-
(1999)
Analytical Biochemistry
, vol.275
, pp. 84-92
-
-
Labuda, D.1
Krajinovic, M.2
Richer, C.3
Skoll, A.4
Sinnet, H.5
Yotova, V.6
Sinnett, D.7
-
10
-
-
0025341965
-
Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics
-
5
-
J. L. Serre B. Simon-Bouy E. Mornet B. Jaume-Roig A. Balassopoulou M. Schwartz A. Taillandier J. Boue A. Boue 1990 Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics Human Genetics 84 5 449 454
-
(1990)
Human Genetics
, vol.84
, pp. 449-454
-
-
Serre, J.L.1
Simon-Bouy, B.2
Mornet, E.3
Jaume-Roig, B.4
Balassopoulou, A.5
Schwartz, M.6
Taillandier, A.7
Boue, J.8
Boue, A.9
-
11
-
-
0028844133
-
Simple protocols for typing forensic biological evidence: Chemiluminescent detection for human DNA quantitation and restriction fragment length polymorphism (RFLP) analyses and manual typing of polymerase chain reaction (PCR) amplified polymorphisms
-
9
-
B. Budowle F. S. Baechtel C. T. Comey A. M. Giusti L. Klevan 1995 Simple protocols for typing forensic biological evidence: Chemiluminescent detection for human DNA quantitation and restriction fragment length polymorphism (RFLP) analyses and manual typing of polymerase chain reaction (PCR) amplified polymorphisms Electrophoresis 16 9 1559 1567
-
(1995)
Electrophoresis
, vol.16
, pp. 1559-1567
-
-
Budowle, B.1
Baechtel, F.S.2
Comey, C.T.3
Giusti, A.M.4
Klevan, L.5
-
12
-
-
0025090944
-
Rapid detection prenatal diagnosis of β-thalassaemia studies in Indian and Cypriot populations in the UK
-
J. Old N. Varawalla D. Weatherall 1990 Rapid detection prenatal diagnosis of β-thalassaemia studies in Indian and Cypriot populations in the UK Lancet 33 834 837
-
(1990)
Lancet
, vol.33
, pp. 834-837
-
-
Old, J.1
Varawalla, N.2
Weatherall, D.3
-
13
-
-
0027442672
-
Conformation-selective DNA strand breaks by dynemicin: A molecular wedge into flexible regions of DNA
-
43
-
T. Kusakabe K. Maekawa A. Ichikawa M. Uesugi Y. Sugiura 1993 Conformation-selective DNA strand breaks by dynemicin: A molecular wedge into flexible regions of DNA Biochemistry 32 43 11669 11675
-
(1993)
Biochemistry
, vol.32
, pp. 11669-11675
-
-
Kusakabe, T.1
Maekawa, K.2
Ichikawa, A.3
Uesugi, M.4
Sugiura, Y.5
-
15
-
-
0030039497
-
Conditions for single strand conformation polymorphism (SSCP) analysis with broad applicability: A study of the effects of acrylamide, buffer and glycerol concentrations in SSCP analysis of exons of the p53 gene
-
W. Teschauer T. Mussack A. Braun H. Waldner E. Fink 1996 Conditions for single strand conformation polymorphism (SSCP) analysis with broad applicability: A study of the effects of acrylamide, buffer and glycerol concentrations in SSCP analysis of exons of the p53 gene European Journal of Clinical Chemistry and Clinical Biochemistry 34 125 131
-
(1996)
European Journal of Clinical Chemistry and Clinical Biochemistry
, vol.34
, pp. 125-131
-
-
Teschauer, W.1
Mussack, T.2
Braun, A.3
Waldner, H.4
Fink, E.5
-
16
-
-
33746881043
-
Detection of known thalassemia point mutations by snapback single-strand conformation polymorphism: The feasibility analysis
-
W. Li F. Gao W. Tang X. Zhang H. Zhang 2006 Detection of known thalassemia point mutations by snapback single-strand conformation polymorphism: The feasibility analysis Clinical Biochemistry 39 833 842
-
(2006)
Clinical Biochemistry
, vol.39
, pp. 833-842
-
-
Li, W.1
Gao, F.2
Tang, W.3
Zhang, X.4
Zhang, H.5
-
17
-
-
33750685998
-
Identification of the most common cystic fibrosis transmembrane regulator gene Δf508 mutation: Evaluation of PCR-single strand conformational polymorphism and polyacrylamide gel electrophoresis
-
10
-
V. Κ. Kakavas A. V. Noulas I. Kanakis S. Bonanou N. K. Karamanos 2006 Identification of the most common cystic fibrosis transmembrane regulator gene ΔF508 mutation: Evaluation of PCR-single strand conformational polymorphism and polyacrylamide gel electrophoresis Biomedical Chromatography 20 10 1120 1125
-
(2006)
Biomedical Chromatography
, vol.20
, pp. 1120-1125
-
-
Kakavas, V.K.1
Noulas, A.V.2
Kanakis, I.3
Bonanou, S.4
Karamanos, N.K.5
-
18
-
-
16944363555
-
SSCP analysis: A blind sensitivity trial
-
A. Jordanova L. Kalaydjieva A. Savov M. Clausters M. Schwarz X. Estivil D. Angelicheva A. Haworth T. Casals I. Kremensky 1997 SSCP analysis: A blind sensitivity trial Human Mutation 10 65 70
-
(1997)
Human Mutation
, vol.10
, pp. 65-70
-
-
Jordanova, A.1
Kalaydjieva, L.2
Savov, A.3
Clausters, M.4
Schwarz, M.5
Estivil, X.6
Angelicheva, D.7
Haworth, A.8
Casals, T.9
Kremensky, I.10
-
19
-
-
0041565464
-
Efficiency and cost effectiveness: PAGE-SSCP versus MDE and Phast gels for the identification of unknown β-thalassaemia mutations
-
A. Gupta S. Agarwal 2003 Efficiency and cost effectiveness: PAGE-SSCP versus MDE and Phast gels for the identification of unknown β-thalassaemia mutations Journal of Clinical Pathology 56 237 239
-
(2003)
Journal of Clinical Pathology
, vol.56
, pp. 237-239
-
-
Gupta, A.1
Agarwal, S.2
-
20
-
-
0028826647
-
Applications of heteroduplex analysis for mutation detection in disease genes
-
4
-
D. Glavac M. Dean 1995 Applications of heteroduplex analysis for mutation detection in disease genes Human Mutation 6 4 281 287
-
(1995)
Human Mutation
, vol.6
, pp. 281-287
-
-
Glavac, D.1
Dean, M.2
-
21
-
-
0030798387
-
Rapid genetic screening for haemochromatosis using heteroduplex technology
-
4
-
H. A. Jackson D. J. Bowen M. Worwood 1997 Rapid genetic screening for haemochromatosis using heteroduplex technology British Journal of Haematology 98 4 856 859
-
(1997)
British Journal of Haematology
, vol.98
, pp. 856-859
-
-
Jackson, H.A.1
Bowen, D.J.2
Worwood, M.3
-
22
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
4922
-
B. Kerem J. M. Rommens J. A. Buchanan D. Markiewich T. K. Cox A. Chakravarti M. Buchwald L. C. Tsui 1989 Identification of the cystic fibrosis gene: Genetic analysis Science 245 4922 1073 1080
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.1
Rommens, J.M.2
Buchanan, J.A.3
Markiewich, D.4
Cox, T.K.5
Chakravarti, A.6
Buchwald, M.7
Tsui, L.C.8
-
23
-
-
0023476285
-
Detection and localization of single base changes by denaturing gradient gel electrophoresis
-
M. Myers T. Maniatis L. Lerman 1987 Detection and localization of single base changes by denaturing gradient gel electrophoresis Method in Enzymology 155 499 527
-
(1987)
Method in Enzymology
, vol.155
, pp. 499-527
-
-
Myers, M.1
Maniatis, T.2
Lerman, L.3
-
24
-
-
0025666527
-
Methods of detection of single base substitutions in clinical genetic practice
-
5
-
S. Forrest R. G. Cotton 1990 Methods of detection of single base substitutions in clinical genetic practice Molecular Biology and Medicine 7 5 451 459
-
(1990)
Molecular Biology and Medicine
, vol.7
, pp. 451-459
-
-
Forrest, S.1
Cotton, R.G.2
-
25
-
-
0017367852
-
Nucleotide sequence of bacteriophage phi X174 DNA
-
5596
-
F. Sanger G. M. Air B. G. Barrel N. L. Brown A. R. Coulson C. A. Fiddes C. A. Hutchison P. M. Slocombe M. Smith 1977 Nucleotide sequence of bacteriophage phi X174 DNA Nature 265 5596 687 695
-
(1977)
Nature
, vol.265
, pp. 687-695
-
-
Sanger, F.1
Air, G.M.2
Barrel, B.G.3
Brown, N.L.4
Coulson, A.R.5
Fiddes, C.A.6
Hutchison, C.A.7
Slocombe, P.M.8
Smith, M.9
-
26
-
-
0023850178
-
Primer-directed enzymatic amlification of DNA with thermostable DNA polymerase
-
R. Saiki D. H. Gelfant S. Stoffel S. J. Scharf R. Higuchi G. T. Horn K. B. Mullis H. A. Erlich 1988 Primer-directed enzymatic amlification of DNA with thermostable DNA polymerase Science 239 487 491
-
(1988)
Science
, vol.239
, pp. 487-491
-
-
Saiki, R.1
Gelfant, D.H.2
Stoffel, S.3
Scharf, S.J.4
Higuchi, R.5
Horn, G.T.6
Mullis, K.B.7
Erlich, H.A.8
-
29
-
-
0024756969
-
Rapid and sensitive detection and DNA polymorphisms using polymerase chain reaction
-
4
-
M. Orita Y. Suzuki T. Sekiya K. Hayashi 1989 Rapid and sensitive detection and DNA polymorphisms using polymerase chain reaction Genomics 5 4 874 879
-
(1989)
Genomics
, vol.5
, pp. 874-879
-
-
Orita, M.1
Suzuki, Y.2
Sekiya, T.3
Hayashi, K.4
-
30
-
-
30744474903
-
-
Traeger-Synodinos, J., Old, J. M., Petrou, M., & Galano, R. (2002). Best practice guidelines for carrier identification and prenatal diagnosis of haemoglopinopathies. European Molecular Genetics Quality Network http://www.emqn.org.
-
(2002)
Best Practice Guidelines for Carrier Identification and Prenatal Diagnosis of Haemoglopinopathies
-
-
Traeger-Synodinos, J.1
Old, J.M.2
Petrou, M.3
Galano, R.4
-
31
-
-
1642492777
-
β-Thalassemia microelectronic chip: A fast and accurate method for mutation detection
-
1
-
B. Foglieni L. Cremonesi M. Travi 2004 β-Thalassemia microelectronic chip: A fast and accurate method for mutation detection Clinical Chemistry 50 1 73 79
-
(2004)
Clinical Chemistry
, vol.50
, pp. 73-79
-
-
Foglieni, B.1
Cremonesi, L.2
Travi, M.3
-
32
-
-
4344584071
-
An integrated method for mutation detection using on-chip sample preparation, single-stranded conformation polymorphism, and heteroduplex analysis
-
V. Golnaz K. Karan C. J. Backhouse 2004 An integrated method for mutation detection using on-chip sample preparation, single-stranded conformation polymorphism, and heteroduplex analysis Electrophoresis 25 2346 2356
-
(2004)
Electrophoresis
, vol.25
, pp. 2346-2356
-
-
Golnaz, V.1
Karan, K.2
Backhouse, C.J.3
-
34
-
-
1642525984
-
High-throughput single nucleotide polymorphism typing by fluorescent single-strand conformation polymorphism analysis with capillary electrophoresis
-
Doi Kent D. Hitomi N. Eisei N. Akihide T. Fujita T. Katsushi 2004 High-throughput single nucleotide polymorphism typing by fluorescent single-strand conformation polymorphism analysis with capillary electrophoresis Electrophoresis 25 833 838
-
(2004)
Electrophoresis
, vol.25
, pp. 833-838
-
-
Doi, K.1
Hitomi, D.2
Eisei, N.3
Akihide, N.4
Fujita, T.5
Katsushi, T.6
-
36
-
-
0036637688
-
A single-strand conformation polymorphism method for the large-scale analysis of mutations/polymorphisms using capillary array electrophoresis
-
Y. Kukita K. Higasa S. Baba M. Nakamura S. Manago A. Suzuki T. Tahira K. Hayashi 2002 A single-strand conformation polymorphism method for the large-scale analysis of mutations/polymorphisms using capillary array electrophoresis Electrophoresis 23 2259 2266
-
(2002)
Electrophoresis
, vol.23
, pp. 2259-2266
-
-
Kukita, Y.1
Higasa, K.2
Baba, S.3
Nakamura, M.4
Manago, S.5
Suzuki, A.6
Tahira, T.7
Hayashi, K.8
-
37
-
-
33750238067
-
The potential of electrophoretic mobility shift assays for clinical mutation detection
-
19
-
C. N. Hestekin A. E. Barron 2006 The potential of electrophoretic mobility shift assays for clinical mutation detection Electrophoresis 27 19 3805 3815
-
(2006)
Electrophoresis
, vol.27
, pp. 3805-3815
-
-
Hestekin, C.N.1
Barron, A.E.2
-
38
-
-
0030043074
-
Bi-ddF: A rapid method for quantitative detection of mutations in genomic regions of 300-600bp
-
1
-
Q. Liu J. Feng S. S. Sommer 1996 Bi-ddF: A rapid method for quantitative detection of mutations in genomic regions of 300-600bp Human Molecular Genetics 5 1 107 114
-
(1996)
Human Molecular Genetics
, vol.5
, pp. 107-114
-
-
Liu, Q.1
Feng, J.2
Sommer, S.S.3
-
39
-
-
1842580296
-
Fluorescence-based mutation detection
-
J. S. Ellison 1996 Fluorescence-based mutation detection Molecular Biotechnology 5 17 31
-
(1996)
Molecular Biotechnology
, vol.5
, pp. 17-31
-
-
Ellison, J.S.1
-
42
-
-
0025369709
-
Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus
-
D. Viskochil A. M. Buchberg G. Xu R. M. Cawthon J. Stevens R. K. Wolff M. Culver J. C. Carey 1990 Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus Cell 62 193 201
-
(1990)
Cell
, vol.62
, pp. 193-201
-
-
Viskochil, D.1
Buchberg, A.M.2
Xu, G.3
Cawthon, R.M.4
Stevens, J.5
Wolff, R.K.6
Culver, M.7
Carey, J.C.8
-
43
-
-
0025938038
-
Identification and characterization of the familiar adenomatous polyposis coli gene
-
J. Groden A. Thliveris W. Samowitz M. Carlson L. Gelbert H. Albertsen G. Joslyn J. Stevens 1991 Identification and characterization of the familiar adenomatous polyposis coli gene Cell 66 589 600
-
(1991)
Cell
, vol.66
, pp. 589-600
-
-
Groden, J.1
Thliveris, A.2
Samowitz, W.3
Carlson, M.4
Gelbert, L.5
Albertsen, H.6
Joslyn, G.7
Stevens, J.8
-
45
-
-
0025886783
-
Marfan syndrome caused by a recurrent de novo missense mutation in the filibrin gene
-
H. C. Dietz G. R. Cutting R. E. Pyeritz C. L. Maslen L. Y. Sakai G. M. Corson E. G. Puffenberger A. Hamosh 1991 Marfan syndrome caused by a recurrent de novo missense mutation in the filibrin gene Nature 352 337 339
-
(1991)
Nature
, vol.352
, pp. 337-339
-
-
Dietz, H.C.1
Cutting, G.R.2
Pyeritz, R.E.3
Maslen, C.L.4
Sakai, L.Y.5
Corson, G.M.6
Puffenberger, E.G.7
Hamosh, A.8
-
47
-
-
0025788974
-
WT1 mutations contribute to abnormal genital system development and hereditary Wilms tumor
-
6343
-
J. Pelletier W. Bruening F. P. Li D. A. Haber T. Glaser D. E. Housman 1991 WT1 mutations contribute to abnormal genital system development and hereditary Wilms tumor Nature 353 6343 431 434
-
(1991)
Nature
, vol.353
, pp. 431-434
-
-
Pelletier, J.1
Bruening, W.2
Li, F.P.3
Haber, D.A.4
Glaser, T.5
Housman, D.E.6
-
48
-
-
0032845794
-
Rapid and simple determination of hereditary haemochromatosis mutations by PCR-SSCP: Detection of a new polymorphic mutation
-
K. Simonsen J. Dissing L. Budbeck M. Schwartz 1999 Rapid and simple determination of hereditary haemochromatosis mutations by PCR-SSCP: Detection of a new polymorphic mutation Annual Human Genetics 63 193 197
-
(1999)
Annual Human Genetics
, vol.63
, pp. 193-197
-
-
Simonsen, K.1
Dissing, J.2
Budbeck, L.3
Schwartz, M.4
-
49
-
-
0026087687
-
Diagnostic single strand conformational polymorphism (SSCP): A simplified non-radioisotopic method as applied to a Tay-sachs B1 variant
-
2
-
P. J. Ainsworth L. C. Surh M. B. Coulter-Mackie 1990 Diagnostic single strand conformational polymorphism (SSCP): A simplified non-radioisotopic method as applied to a Tay-sachs B1 variant Nucleic Acids Research 19 2 405 406
-
(1990)
Nucleic Acids Research
, vol.19
, pp. 405-406
-
-
Ainsworth, P.J.1
Surh, L.C.2
Coulter-Mackie, M.B.3
-
50
-
-
0025729669
-
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients
-
E. H. Mules M. B. Peterson H. H. Kazazian Jr. G. H. Thomas 1991 A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients American Journal of Human Genetics 48 1181 1185
-
(1991)
American Journal of Human Genetics
, vol.48
, pp. 1181-1185
-
-
Mules, E.H.1
Peterson, M.B.2
Kazazian Jr., H.H.3
Thomas, G.H.4
-
52
-
-
0026072607
-
A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-depentent rickets type II: Utility of single-strand conformation polymorphism analysis for heterozygous carrier detection
-
3
-
T. Saijo M. Ito E. Takeda A. H. M. M. Huq E. Naito I. Yokota T. Sone J. W. Pike Y. Kuroda 1991 A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-depentent rickets type II: Utility of single-strand conformation polymorphism analysis for heterozygous carrier detection American Journal of Human Genetics 49 3 668 673
-
(1991)
American Journal of Human Genetics
, vol.49
, pp. 668-673
-
-
Saijo, T.1
Ito, M.2
Takeda, E.3
Huq, A.H.M.M.4
Naito, E.5
Yokota, I.6
Sone, T.7
Pike, J.W.8
Kuroda, Y.9
-
53
-
-
0025721075
-
A three-base deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
-
6353
-
G. J. Farrar P. Kenna S. A. Jordan R. Kumar-Singh M. M. Humphries E. M. Sharp D. M. Sheils P. Humphries 1991 A three-base deletion in the peripherin-RDS gene in one form of retinitis pigmentosa Nature 354 6353 478 480
-
(1991)
Nature
, vol.354
, pp. 478-480
-
-
Farrar, G.J.1
Kenna, P.2
Jordan, S.A.3
Kumar-Singh, R.4
Humphries, M.M.5
Sharp, E.M.6
Sheils, D.M.7
Humphries, P.8
-
55
-
-
1042280320
-
Detection of the major mutation M467T causing cystinuria by single-strand conformation polymorphism analysis capillary electrophoresis
-
K. Kleparnik D. Grochova Z. Skopkova T. Adam 2004 Detection of the major mutation M467T causing cystinuria by single-strand conformation polymorphism analysis capillary electrophoresis Electrophoresis 25 57 64
-
(2004)
Electrophoresis
, vol.25
, pp. 57-64
-
-
Kleparnik, K.1
Grochova, D.2
Skopkova, Z.3
Adam, T.4
-
56
-
-
33747359322
-
Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection
-
8
-
M. Lecha C. Badenas S. Puig J. Orfila M. Mila J. To-Figueras C. Munoz P. Mercader C. Herrero 2006 Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection Journal of European Academy of Dermatology and Venereology 20 8 974 979
-
(2006)
Journal of European Academy of Dermatology and Venereology
, vol.20
, pp. 974-979
-
-
Lecha, M.1
Badenas, C.2
Puig, S.3
Orfila, J.4
Mila, M.5
To-Figueras, J.6
Munoz, C.7
Mercader, P.8
Herrero, C.9
-
59
-
-
32244449019
-
Mutations in mitochondrial-encoded cytochrome c oxidase subunits I, II and III genes detected in Alzheimer's disease using single-strand conformation polymorphism
-
N. S. Hamblet B. Ragland A. Mervat B. Conyers F. J. Castora 2006 Mutations in mitochondrial-encoded cytochrome c oxidase subunits I, II and III genes detected in Alzheimer's disease using single-strand conformation polymorphism Electrophoresis 27 398 408
-
(2006)
Electrophoresis
, vol.27
, pp. 398-408
-
-
Hamblet, N.S.1
Ragland, B.2
Mervat, A.3
Conyers, B.4
Castora, F.J.5
-
60
-
-
33750079257
-
High frequency of neurexin 1beta signal peptide structural variants in patients with autism
-
1
-
J. Feng R. Schroer J. Yan W. Song C. Yang A. Bockholt E. H. Cook Jr C. Skinner 2006 High frequency of neurexin 1beta signal peptide structural variants in patients with autism Neuroscience Letters 409 1 10 13
-
(2006)
Neuroscience Letters
, vol.409
, pp. 10-13
-
-
Feng, J.1
Schroer, R.2
Yan, J.3
Song, W.4
Yang, C.5
Bockholt, A.6
Cook Jr., E.H.7
Skinner, C.8
-
61
-
-
0025312731
-
Identification of cystic fibrosis mutations
-
M. Dean B. Gerrard C. Stewart L. Krueger D. Holsclaw L. Quittell V. Baranov N. Kapronov 1990 Identification of cystic fibrosis mutations Cell 61 863 870
-
(1990)
Cell
, vol.61
, pp. 863-870
-
-
Dean, M.1
Gerrard, B.2
Stewart, C.3
Krueger, L.4
Holsclaw, D.5
Quittell, L.6
Baranov, V.7
Kapronov, N.8
-
63
-
-
0026069197
-
Further evidence for cystic fibrosis in Southern Europe
-
L. Kalaydjieva P. Plageras J. Horst 1991 Further evidence for cystic fibrosis in Southern Europe Human Heredity 41 65 68
-
(1991)
Human Heredity
, vol.41
, pp. 65-68
-
-
Kalaydjieva, L.1
Plageras, P.2
Horst, J.3
-
65
-
-
0025318743
-
The human genome project: Past, present and future
-
J. D. Watson 1990 The human genome project: Past, present and future Science 248 44 49
-
(1990)
Science
, vol.248
, pp. 44-49
-
-
Watson, J.D.1
-
67
-
-
0025663664
-
Population and pedigree studies reveal a lack of association between the dopamine D2 receptor gene and alcoholism
-
24
-
A. M. Bolos M. Dean S. Lucas-Derse M. Ramsburg G. L. Brown D. Goldman 1990 Population and pedigree studies reveal a lack of association between the dopamine D2 receptor gene and alcoholism JAMA 264 24 3156 3160
-
(1990)
JAMA
, vol.264
, pp. 3156-3160
-
-
Bolos, A.M.1
Dean, M.2
Lucas-Derse, S.3
Ramsburg, M.4
Brown, G.L.5
Goldman, D.6
-
68
-
-
0025770182
-
Polymorphism in exon 4a of the human GLUT4/muscle-fat facilitative glucose transporter gene detected by SSCP
-
15
-
A. Muraoka H. Sakura M. Kishimoto Y. Akanuma J. B. Buse K. Yusuda S. Seino G. L. Bell Y. Yazaki M. Kasuga T. Kadowaki 1991 Polymorphism in exon 4a of the human GLUT4/muscle-fat facilitative glucose transporter gene detected by SSCP Nucleic Acids Research 19 15 4313
-
(1991)
Nucleic Acids Research
, vol.19
, pp. 4313
-
-
Muraoka, A.1
Sakura, H.2
Kishimoto, M.3
Akanuma, Y.4
Buse, J.B.5
Yusuda, K.6
Seino, S.7
Bell, G.L.8
Yazaki, Y.9
Kasuga, M.10
Kadowaki, T.11
-
69
-
-
0025787175
-
Detecting high-resolution polymorphisms in human coding loci by combining PCR and single-strand conformation polymorphism (SSCP) analysis
-
S. E. Poduslo M. Dean U. Kolch. S. J. O'Briaen 1991 Detecting high-resolution polymorphisms in human coding loci by combining PCR and single-strand conformation polymorphism (SSCP) analysis American Journal Human Genetics 49 106 111
-
(1991)
American Journal Human Genetics
, vol.49
, pp. 106-111
-
-
Poduslo, S.E.1
Dean, M.2
Kolch., U.3
O'Briaen, S.J.4
-
71
-
-
0031056753
-
Rapid and sensitive genotyping of hepatitis C virus by single strand conformation polymorphism
-
R. R. Lareu N. R. Swanson S. A. Fox 1997 Rapid and sensitive genotyping of hepatitis C virus by single strand conformation polymorphism Journal of Virology Methods 64 11 18
-
(1997)
Journal of Virology Methods
, vol.64
, pp. 11-18
-
-
Lareu, R.R.1
Swanson, N.R.2
Fox, S.A.3
-
72
-
-
0028871588
-
Low-strigency single specific primer PCR, DNA sequencing and single strand conformation polymorphism of PCR products for identification of genetic variants of human papilloma virus type 16
-
V. Belcum Alex 1995 Low-strigency single specific primer PCR, DNA sequencing and single strand conformation polymorphism of PCR products for identification of genetic variants of human papilloma virus type 16 Journal of Virology Methods 55 435 443
-
(1995)
Journal of Virology Methods
, vol.55
, pp. 435-443
-
-
Belcum Alex, V.1
-
73
-
-
0028879575
-
«screening for mitochondrial DNA (mtDNA) point mutations using non-radioactive single strand conformation polymorphism (SSCP) analysis
-
5
-
M. Jaksch K. D. Gerbitz C. Kilger 1995 «Screening for mitochondrial DNA (mtDNA) point mutations using non-radioactive single strand conformation polymorphism (SSCP) analysis Clinical Biochemistry 28 5 503 509
-
(1995)
Clinical Biochemistry
, vol.28
, pp. 503-509
-
-
Jaksch, M.1
Gerbitz, K.D.2
Kilger, C.3
-
74
-
-
0036146449
-
Single-strand conformation polymorphism-based analysis of mitochondrial cytochrome C oxidase subunit 1 reveals significant substructuring in hookworm populations
-
1
-
M. Hu N. B. Chilton X. Zhu R. B. Gasser 2002 Single-strand conformation polymorphism-based analysis of mitochondrial cytochrome C oxidase subunit 1 reveals significant substructuring in hookworm populations Electrophoresis 23 1 27 34
-
(2002)
Electrophoresis
, vol.23
, pp. 27-34
-
-
Hu, M.1
Chilton, N.B.2
Zhu, X.3
Gasser, R.B.4
-
76
-
-
33747803015
-
Single-stranded conformation polymorphism of large subunit of ribosomal RNA is best suited to diagnosing fungal infections and differentiating fungi at species level
-
M. Kumar P. Kumar 2006 Single-stranded conformation polymorphism of large subunit of ribosomal RNA is best suited to diagnosing fungal infections and differentiating fungi at species level Diagnosis Microbes Infection Diseases 56 45 51
-
(2006)
Diagnosis Microbes Infection Diseases
, vol.56
, pp. 45-51
-
-
Kumar, M.1
Kumar, P.2
-
77
-
-
0345975891
-
Molecular epidemiological investigation of Ascaris genotypes in China based on single-strand conformation polymorphism analysis of ribosomal DNA
-
Weidong, P., Keng, Y., Xianmin, Z., Hu, M., Youssef, G., Abs, E. L.-O., & Gasser, R. B. (2003). Molecular epidemiological investigation of Ascaris genotypes in China based on single-strand conformation polymorphism analysis of ribosomal DNA. Electrophoresis, 24, 2308-2315.
-
(2003)
Electrophoresis
, vol.24
, pp. 2308-2315
-
-
Weidong, P.1
Keng, Y.2
Xianmin, Z.3
Hu, M.4
Youssef, G.5
Abs, E.L.-O.6
Gasser, R.B.7
|