-
1
-
-
79955931612
-
-
Presented at The American Society of Human Genetics 59th Annual Meeting. Program Number 195, Honolulu, Hawai
-
Baye LM, Nishimura DY, Searby CC, et al. Discovery and Functional Analysis of a New Retinitis Pigmentosa Gene, C2orf71. Presented at The American Society of Human Genetics 59th Annual Meeting. Program Number 195, Honolulu, Hawai; 2009.
-
(2009)
Discovery and Functional Analysis of a New Retinitis Pigmentosa Gene, C2orf71
-
-
Baye, L.M.1
Nishimura, D.Y.2
Searby, C.C.3
-
2
-
-
77952092633
-
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
-
Nishimura DY, Baye LM, Perveen R, et al. Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. Am J Hum Genet. 2010;86:686-695.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 686-695
-
-
Nishimura, D.Y.1
Baye, L.M.2
Perveen, R.3
-
3
-
-
77951974591
-
Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa
-
Collin RW, Safieh C, Littink KW, et al. Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet. 2010; 86:783-788.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 783-788
-
-
Collin, R.W.1
Safieh, C.2
Littink, K.W.3
-
4
-
-
0038359432
-
High-resolution genotyping by amplicon melting analysis using LCGreen
-
Wittwer CT, Reed GH, Gundry CN, Vandersteen JG, Pryor RJ. High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem. 2003;49:853-860.
-
(2003)
Clin Chem
, vol.49
, pp. 853-860
-
-
Wittwer, C.T.1
Reed, G.H.2
Gundry, C.N.3
Vandersteen, J.G.4
Pryor, R.J.5
-
5
-
-
0031022694
-
Continuous fluorescence monitoring of rapid cycle DNA amplification
-
Wittwer CT, Herrmann MG, Moss AA, Rasmussen RP. Continuous fluorescence monitoring of rapid cycle DNA amplification. Bio-Techniques. 1997;22:130-131, 134-138.
-
(1997)
Bio-Techniques
, vol.22
, pp. 130-131
-
-
Wittwer, C.T.1
Herrmann, M.G.2
Moss, A.A.3
Rasmussen, R.P.4
-
6
-
-
0031568919
-
Product differentiation by analysis of DNA melting curves during the polymerase chain reaction
-
Ririe KM, Rasmussen RP, Wittwer CT. Product differentiation by analysis of DNA melting curves during the polymerase chain reaction. Anal Biochem. 1997;245:154-160.
-
(1997)
Anal Biochem
, vol.245
, pp. 154-160
-
-
Ririe, K.M.1
Rasmussen, R.P.2
Wittwer, C.T.3
-
8
-
-
34547567980
-
OligoCalc: An online oligonucleotide properties calculator
-
Kibbe WA. OligoCalc: an online oligonucleotide properties calculator. Nucleic Acids Res. 2007;35:W43-46.
-
(2007)
Nucleic Acids Res
, vol.35
-
-
Kibbe, W.A.1
-
9
-
-
77953232690
-
High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene
-
Olsen RK, Dobrowolski SF, Kjeldsen M, et al. High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene. J Inherit Metab Dis. 2010;33:247-260.
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 247-260
-
-
Olsen, R.K.1
Dobrowolski, S.F.2
Kjeldsen, M.3
-
10
-
-
0015990369
-
Sampling variances of heterozygosity and genetic distance
-
Nei M, Roychoudhury AK. Sampling variances of heterozygosity and genetic distance. Genetics. 1974;76:379-390.
-
(1974)
Genetics
, vol.76
, pp. 379-390
-
-
Nei, M.1
Roychoudhury, A.K.2
-
11
-
-
0005814023
-
Mathematical model for studying genetic variation in terms of restriction endonucleases
-
Nei M, Li WH. Mathematical model for studying genetic variation in terms of restriction endonucleases. Proc Natl Acad Sci U S A. 1979;76:5269-5273.
-
(1979)
Proc Natl Acad Sci U S A
, vol.76
, pp. 5269-5273
-
-
Nei, M.1
Li, W.H.2
-
12
-
-
0024313579
-
Statistical method for testing the neutral mutation hypothesis by DNA polymorphism
-
Tajima F. Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics. 1989;123:585-595.
-
(1989)
Genetics
, vol.123
, pp. 585-595
-
-
Tajima, F.1
-
13
-
-
0016491430
-
On the number of segregating sites in genetical models without recombination
-
Watterson GA. On the number of segregating sites in genetical models without recombination. Theor Popul Biol. 1975;7:256-276.
-
(1975)
Theor Popul Biol
, vol.7
, pp. 256-276
-
-
Watterson, G.A.1
-
15
-
-
58149191270
-
-
The Universal Protein Resource (UniProt)
-
The Universal Protein Resource (UniProt). Nucleic Acids Res. 2009;37:D169-D174.
-
(2009)
Nucleic Acids Res
, vol.37
-
-
-
16
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4:1073-1081.
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
17
-
-
0036713510
-
Human non-synonymous SNPs: Server and survey
-
Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 2002;30:3894-3900.
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
-
18
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7: 248-249.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
-
20
-
-
0036725017
-
Human genome sequence variation and the influence of gene history, mutation and recombination
-
Reich DE, Schaffner SF, Daly MJ, et al. Human genome sequence variation and the influence of gene history, mutation and recombination. Nat Genet. 2002;32:135-142.
-
(2002)
Nat Genet
, vol.32
, pp. 135-142
-
-
Reich, D.E.1
Schaffner, S.F.2
Daly, M.J.3
-
22
-
-
0027364221
-
MHC polymorphism and human origins
-
Klein J, Takahata N, Ayala FJ. MHC polymorphism and human origins. Sci Am. 1993;269:78-83.
-
(1993)
Sci Am
, vol.269
, pp. 78-83
-
-
Klein, J.1
Takahata, N.2
Ayala, F.J.3
-
24
-
-
77649232843
-
High resolution melting analysis for gene scanning
-
Erali M, Wittwer CT. High resolution melting analysis for gene scanning. Methods. 2010;50:250-261.
-
(2010)
Methods
, vol.50
, pp. 250-261
-
-
Erali, M.1
Wittwer, C.T.2
-
25
-
-
77952484078
-
Comparison of high-resolution melting analysis with denaturing highperformance liquid chromatography for mutation scanning in the ABCA4 gene
-
Aguirre-Lamban J, Riveiro-Alvarez R, Garcia-Hoyos M, et al. Comparison of high-resolution melting analysis with denaturing highperformance liquid chromatography for mutation scanning in the ABCA4 gene. Invest Ophthalmol Vis Sci. 2010;51:2615-2619.
-
(2010)
Invest Ophthalmol Vis Sci
, vol.51
, pp. 2615-2619
-
-
Aguirre-Lamban, J.1
Riveiro-Alvarez, R.2
Garcia-Hoyos, M.3
-
26
-
-
66349115872
-
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner
-
van der Stoep N, van Paridon CD, Janssens T, et al. Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Hum Mutat. 2009;30:899-909.
-
(2009)
Hum Mutat
, vol.30
, pp. 899-909
-
-
van der Stoep, N.1
van Paridon, C.D.2
Janssens, T.3
-
27
-
-
67349100169
-
High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations
-
de Juan I, Esteban E, Palanca S, Barragan E, Bolufer P. High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations. Breast Cancer Res Treat. 2009;115:405-414.
-
(2009)
Breast Cancer Res Treat
, vol.115
, pp. 405-414
-
-
de Juan, I.1
Esteban, E.2
Palanca, S.3
Barragan, E.4
Bolufer, P.5
-
28
-
-
65549160923
-
Mutation scanning using high-resolution melting
-
Taylor CF. Mutation scanning using high-resolution melting. Biochem Soc Trans. 2009;37:433-437.
-
(2009)
Biochem Soc Trans
, vol.37
, pp. 433-437
-
-
Taylor, C.F.1
-
29
-
-
14944353803
-
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene
-
Dobrowolski SF, McKinney JT, Amat di San Filippo C, Giak Sim K, Wilcken B, Longo N. Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. Hum Mutat. 2005;25:306-313.
-
(2005)
Hum Mutat
, vol.25
, pp. 306-313
-
-
Dobrowolski, S.F.1
McKinney, J.T.2
di San Filippo, A.C.3
Giak, S.K.4
Wilcken, B.5
Longo, N.6
-
30
-
-
3042651880
-
Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons
-
Liew M, Pryor R, Palais R, et al. Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons. Clin Chem. 2004;50:1156-1164.
-
(2004)
Clin Chem
, vol.50
, pp. 1156-1164
-
-
Liew, M.1
Pryor, R.2
Palais, R.3
-
31
-
-
26844517352
-
Quantitative heteroduplex analysis for single nucleotide polymorphism genotyping
-
Palais RA, Liew MA, Wittwer CT. Quantitative heteroduplex analysis for single nucleotide polymorphism genotyping. Anal Biochem. 2005;346:167-175.
-
(2005)
Anal Biochem
, vol.346
, pp. 167-175
-
-
Palais, R.A.1
Liew, M.A.2
Wittwer, C.T.3
-
32
-
-
23044509486
-
Distinguishing different DNA heterozygotes by high-resolution melting
-
Graham R, Liew M, Meadows C, Lyon E, Wittwer CT. Distinguishing different DNA heterozygotes by high-resolution melting. Clin Chem. 2005;51:1295-1298.
-
(2005)
Clin Chem
, vol.51
, pp. 1295-1298
-
-
Graham, R.1
Liew, M.2
Meadows, C.3
Lyon, E.4
Wittwer, C.T.5
-
33
-
-
36649014064
-
Detection of factor VIII gene mutations by high-resolution melting analysis
-
Laurie AD, Smith MP, George PM. Detection of factor VIII gene mutations by high-resolution melting analysis. Clin Chem. 2007; 53:2211-2214.
-
(2007)
Clin Chem
, vol.53
, pp. 2211-2214
-
-
Laurie, A.D.1
Smith, M.P.2
George, P.M.3
-
35
-
-
0026207466
-
DNA polymerase fidelity and the polymerase chain reaction
-
Eckert KA, Kunkel TA. DNA polymerase fidelity and the polymerase chain reaction. PCR Methods Appl. 1991;1:17-24.
-
(1991)
PCR Methods Appl
, vol.1
, pp. 17-24
-
-
Eckert, K.A.1
Kunkel, T.A.2
-
36
-
-
0033950079
-
The importance of being proline: The interaction of proline-rich motifs in signaling proteins with their cognate domains
-
Kay BK, Williamson MP, Sudol M. The importance of being proline: the interaction of proline-rich motifs in signaling proteins with their cognate domains. FASEB J. 2000;14:231-241.
-
(2000)
FASEB J
, vol.14
, pp. 231-241
-
-
Kay, B.K.1
Williamson, M.P.2
Sudol, M.3
-
37
-
-
71049158071
-
The proline-rich domain of tau plays a role in interactions with actin
-
He HJ, Wang XS, Pan R, Wang DL, Liu MN, He RQ. The proline-rich domain of tau plays a role in interactions with actin. BMC Cell Biol. 2009;10:81.
-
(2009)
BMC Cell Biol
, vol.10
, pp. 81
-
-
He, H.J.1
Wang, X.S.2
Pan, R.3
Wang, D.L.4
Liu, M.N.5
He, R.Q.6
-
38
-
-
0021248958
-
Actin in the photoreceptor connecting cilium: Immunocytochemical localization to the site of outer segment disk formation
-
Chaitin MH, Schneider BG, Hall MO, Papermaster DS. Actin in the photoreceptor connecting cilium: immunocytochemical localization to the site of outer segment disk formation. J Cell Biol. 1984;99:239-247.
-
(1984)
J Cell Biol
, vol.99
, pp. 239-247
-
-
Chaitin, M.H.1
Schneider, B.G.2
Hall, M.O.3
Papermaster, D.S.4
-
39
-
-
33644789436
-
Tubbylike protein 1 (TULP1) interacts with F-actin in photoreceptor cells
-
Xi Q, Pauer GJ, Marmorstein AD, Crabb JW, Hagstrom SA. Tubbylike protein 1 (TULP1) interacts with F-actin in photoreceptor cells. Invest Ophthalmol Vis Sci. 2005;46:4754-4761.
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 4754-4761
-
-
Xi, Q.1
Pauer, G.J.2
Marmorstein, A.D.3
Crabb, J.W.4
Hagstrom, S.A.5
-
40
-
-
0027194702
-
Three-dimensional structure of myosin subfragment-1: A molecular motor
-
Rayment I, Rypniewski WR, Schmidt-Base K, et al. Three-dimensional structure of myosin subfragment-1: a molecular motor. Science. 1993;261:50-58.
-
(1993)
Science
, vol.261
, pp. 50-58
-
-
Rayment, I.1
Rypniewski, W.R.2
Schmidt-Base, K.3
|