| |
2000 |
-
Oefner,
P.J. (2000) Allelic discrimination by denaturing high-performance
liquid chromatography. J. Chromatogr. B. Biomed. Sci. App. 739:345-355.
-
Hou,
Y., Zhang S. (2000) Temperature-modulated high-performance
liquid chromatography for detecting variation in human genome.
Chung Hua I Hsueh I Chuan Hsueh Tsa Chih 17(3):145-148.
-
Liao,
L., Meng, H., Hou, Y., Zhang, S., Yan, Y., Su, Z., Li, Y., Wu,
J., Zhang, J. (2000) Analysis of temperature-modulated high-performance
liquid chromatography as a tool for detection of single nucleotide
polymorphism [Article in Chinese] Chung Hua Hsueh Chuan Hsueh
Tsa Chih 17(3):204-207.
-
Wolford,
J.K., Blunt, D., Ballecer, C., Prochazka, M. (2000) High-throughput
SNP detection by using DNA pooling and denaturing high performance
liquid chromatography (DHPLC). Hum Genet Nov;107(5):483-487.
-
Deng, D., Deng, G., Zhou, J., and Xin, H.
(2000). Detection of CPG methylations in human mismatch repair
gene HMLH1 promoter by denaturing high-performance liquid chromatography
(DHPLC). Chinese Journal of Cancer Research 12, 171 & 191.
-
Dobson-Stone,
C, Cox, R.D., Lonie, L., Southam, L., Fraser, M., Wise, C.,
Bernier, F., Hodgson, S., Porter, D.E., Simpson, A.H., Monaco,
A.P. (2000) Comparison of fluorescent single-strand conformation
polymorphism analysis and denaturing high-performance liquid
chromatography for detection of EXT1 and EXT2 mutations in hereditary
multiple exostoses. Eur. J. Hum. Genet. 8(1):24-32.
-
Ellis,
L.A., Taylor, C.F., Taylor, G.R. (2000) A comparison of
fluorescent SSCP and denaturing HPLC for high throughput mutation
scanning. Hum. Mutat. 15(6):556-64.
-
Spiegelman,
J.I., Mindrinos, M.N., Oefner, P.J. (2000) High accuracy
DNA sequence variation screening by DHPLC. BioTechniques 29(5):1084-1092.
-
Gross,
E., Arnold, N., Pfeifer, K., Bandick, K., Kiechle, M. (2000)
Identification of specific BRCA1 and BRCA2 variants by DHPLC.
Hum. Mutat. 16(4):345-353.
-
Wagner,
T.M., Moslinger, R., Langbauer, G., Ahner, R., Fleischmann,
E., Auterith, A., Friedmann, A., Helbich, T., Zielinski, C.,
Pittermann, E., Seifert, M., Oefner, P. (2000) Attitude
towards prophylactic surgery and effects of genetic counselling
in families with BRCA mutations. Br. J. Cancer 82:1249-1253.
-
Austin,
J., Hoogendoorn, B., Buckland, P., Speight, G., Cardno, A.,
Bowen, T., Williams, N., Spurlock, G., Sanders, R., Jones, L.,
Murphy, K., McCarthy, G., McGuffin, P., Owen, M.J., O'Donovan,
M.C. (2000) Comparative sequencing of the proneurotensin
gene and association studies in schizophrenia. Mol. Psychiatry
5(2):208-12.
-
Jogi,
A., Abel, F., Sjoberg, R.M., Toftgard, R., Zaphiropoulos, P.G.,
Pahlman, S., Martinsson, T., Axelson, H. (2000) Patched
2, located in 1p32-34, is not mutated in high stage neuroblastoma
tumors. Int. J. Oncol. 16(5):943-949.
-
Graves,
P.E., Kabesch, M., Halonen, M., Holberg, C.J., Baldini, M.,
Fritzsch, C., Weiland, S.K., Erickson, R.P., von Mutius, E.,
Martinez, F.D. (2000) A cluster of seven tightly linked
polymorphisms in the IL-13 gene is associated with total serum
IgE levels in three populations of white children. Allergy Clin.
Immunol. 105(3):506-513.
-
Eklund,
A.C., Belchak, M.M., Lapidos, K., Raha-Chowdhury, R., Ober,
C. (2000) Polymorphisms in the HLA-linked olfactory receptor
genes in the Hutterites. Hum. Immunol. 6(7):711-717.
-
Speight,
G., Turic, D., Austin, J., Hoogendoorn, B., Cardno, A.G., Jones,
L., Murphy, K.C., Sanders, R., McCarthy, G., Jones, I., McCandless,
F., McGuffin, P., Craddock, N., Owen, M.J., Buckland, P., O'Donovan,
M.C. (2000) Comparative sequencing and association studies
of aromatic L-amino acid decarboxylase in schizophrenia and
bipolar disorder. Mol. Psychiatry 5(3):327-331.
-
Nickerson,
M.L., Weirich, G., Zbar, B., Schmidt, L.S. (2000) Signature-based
analysis of MET proto-oncogene mutations using DHPLC. Hum. Mutat.
16(1):68-76.
-
Deng,
Z., Morse, J.H., Slager, S.L., Cuervo, N., Moore, K.J., Venetos,
G., Kalachikov, S., Cayanis, E., Fischer, S.G., Barst, R.J.,
Hodge, S.E., Knowles, J.A. (2000) Familial Primary Pulmonary
Hypertension (Gene PPH1) Is Caused by Mutations in the Bone
Morphogenetic Protein Receptor-II Gene. Am. J. Hum. Genet. 67(3):737-744.
-
Jones,
A.C., Sampson, J.R., Hoogendoorn, B., Cohen, D., Cheadle, J.P.
(2000) Application and evaluation of denaturing HPLC for molecular
genetic analysis in tuberous sclerosis. Hum. Genet. 106(6):663-668.
-
Santer,
R., Rischewski, J., Block, G., Kinner, M., Wendel, U., Schaub,
J., Schneppenheim, R. (2000) Molecular analysis in glycogen
storage disease 1 non-A: DHPLC detection of the highly prevalent
exon 8 mutations of the G6PT1 gene in German patients. Hum.
Mutat. 16(2):177.
-
Giunta,
C., Steinmann, B. (2000) Characterization of 11 new mutations
in COL3A1 of individuals with Ehlers-Danlos syndrome type IV:
preliminary comparison of RNase cleavage, EMC and DHPLC assays.
Hum. Mutat. 16(2):176-177.
-
Su,
Z., Zhang, S., Hou, Y., Zhang, L., Liao, L., Xia, Q., Xiao,
C., Meng, H., Yan, Y. (2000) A preliminary study of single
nucleotide polymorphisms of lipoprotein lipase gene in coronary
atherosclerotic heart disease [Article in Chinese]. Chung Hua
Hsueh Chuan Hsueh Tsa Chih 17(3):157-160.
-
Kaler,
S.G., Devaney, J.M., Pettit, E.L., Kirshman, R., Marino, M.A.
(2000) Novel method for molecular detection of the two common
hereditary hemochromatosis mutations. Genet. Test 4(2):125-129.
-
Weigell-Weber, M., Schinzel, A., Hergersberg,
M. (2000) Mutational analysis of the connexin-26 gene
in patients with autosomal recessive inherited hearing loss.
Schweiz Med. Wochenschr. 130:1072-1077 (in German).
-
van
Den Bosch, B.J., de Coo, R.F., Scholte, H.R., Nijland, J.G.,
van Den Bogaard, R., de Visser, M., de Die-Smulders, C.E., Smeets,
H.J. (2000) Mutation analysis of the entire mitochondrial
genome using denaturing high performance liquid chromatography.
Nucleic Acids Res. 28(20):E89.
-
Lam,
C.W., Sin, S.Y., Lau, E.T., Lam, Y.Y., Poon, P., Tong, S.F.
(2000) Prenatal diagnosis of glycogen storage disease type 1b
using denaturing high performance liquid chromatography. Prenat.
Diagn. 20(9):765-768.
-
Weigell-Weber,
M., Schinzel, A., Hergersberg, M. (2000) Hereditary hearing
loss due to mutations in the connexin-26 gene [Article in German).
Schweiz Med. Wochenschr. 130(29-30):1072-1077.
-
Wagner,
T., Moeslinger, R., Muhr, D., Richards, D., Schreiber, M., Fleischmann,
E., Austrian Hereditary Breast and Ovarian Cancer Group, Langbauer,
G., Zielinski, C., Jin, L., Oefner, P. (2000) BRCA1 and
BRCA2 analysis of 268 HBOC and HBC families by DHPLC. Am. J.
Hum. Genet. 67 [Suppl. 2], 87.
-
Shiri-Sverdlov,
R., Oefner, P., Gershoni-Baruch, R., Green, L., Hofstra, R.M.W.,
Wagner, T., Friedman, E. (2000) Mutational analyses of BRCA1
and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial
breast and ovarian cancer. Am. J. Hum. Genet. 67 [Suppl. 2],
88.
-
Thorstenson,
Y.R., Oefner, P.J., Goss, V., Davis, R.W., Gatti, R.A., Chu,
G. (2000) Comprehensive mutational analysis of the ATM gene
by denaturing HPLC. Am. J. Hum. Genet. 67 [Suppl. 2], 100.
-
Moeslinger,
R., Wagner, T., Langbauer, G., Austrian HBOC Group, Fleischmann,
E., Autherith, A., Friedmann, A., Helbich, T., Oefner, P.
(2000) Attitude towards prophylactic surgery and effects of
genetic counselling in families with BRCA mutations. Am. J.
Hum. Genet. 67 [Suppl. 2], 202.
-
Pawar,
S., Ciocci, S., Markowitz, A., Jhanwar, S., Ellis, N. (2000)
Denaturing high performance liquid chromatography (DHPLC) used
in the detection of mutation in hMLH1 and hMSH2 genes. Am. J.
Hum. Genet. 67 [Suppl. 2], 98.
-
Bercovich,
D., Lev-Lehman, E., Beaudet, A.L. (2000) Denaturing high
performance liquid chromatography (DHPLC) used in the detection
of mutations and polymorphisms in the UBE3A gene. Am. J. Hum.
Genet. 67 [Suppl. 2], 246.
-
Smeets,
H., Van den Bosch, B., Nijland, J., Scholte, H., DeDie, C.,
Van den Bogaard, R., De Visser, M., De Coo, I. (2000) Mutation
analysis of the entire mitochondrial DNA using denaturing high
performance liquid chromatography (DHPLC). Am. J. Hum. Genet.
67 [Suppl. 2], 249.
-
McAndrew,
P.E., Devaney, J.M., Pettit, E.L., Schwartz, E.I., Stephan,
D.A., Prior, T.W., Marino, M.A. (2000) Detection of mutations
and heteroplasmy in the mitochondrial genome using denaturing
high performance liquid chromatography. Am. J. Hum. Genet. 67
[Suppl. 2], 359.
-
Lin,
T., Suchy, S.F., Nussbaum, R.L. (2000) Lowe syndrome carrier
testing by denaturing HPLC. Am. J. Hum. Genet. 67 [Suppl. 2],
402.
-
Zhou,
Z., Pace, R.G., Friedman, K.J., Zariwala, M., Noone, P.G., Knowles,
M.R., Silverman, L.M. (2000) Rapid detection of rare mutations
in multiple genetic disorders using DHPLC. Am. J. Hum. Genet.
67 [Suppl. 2], 245.
-
Van
Heerde, W.L., Kenis, H., Lux, P., Hamulyak, K., Wi, D., Lavergne,
J.M.L.S., Reutelingsperger, C.P.M. (2000) Determination
of the factor V Leiden (G1691A) and prothrombin (G20210A) mutations
by using a DHPLC system. Am. J. Hum. Genet. 67 [Suppl. 2], 245.
-
Harvey,
J.F., Haynes, S.P., Eccles, D.M. (2000) DHPLC analysis of
HPNCC: a rapid sensitive exon screen of hMLH1 and hMSH2. Am.
J. Hum. Genet. 67 [Suppl. 2], 241.
-
Bolino,
A., Lonie, L., Zimmer, M., Boerkoel, C.F., Monaco, A.P., Lupski,
J.R. (2000) DHPLC analysis of unrelated CMT patients in
the Myotubularin related 2 gene, MTMR2, responsible for Charcot-Marie-Tooth
disease type 4B. Am. J. Hum. Genet. 67 [Suppl.2], 372.
-
Buyse,
I.M., Fang, P., Hoon, K., Amir, R., Zoghbi, H., Roa, B.B.
(2000) RETT syndrome diagnostic testing by DHPLC and sequence
analysis of the MECP2 gene. Am. J. Hum. Genet. 67 [Suppl. 2],
393.
-
Devaney,
J.M., Hoffbuhr, K., Siranni, S.N., Naidu, S., Marino, M., Hoffman,
E. (2000) DHPLC as a method for high throughput cost effective
mutation screening: application to Rett syndrome. Am. J. Hum.
Genet. 67 [Suppl. 2], 398.
-
Takashima,
H., Boerkoel, C.F., Lupski, J.R. (2000) The evaluation of
mutation analysis using DHPLC in CMT patients with MPZ, PMP22,
GJB1, EGR2 mutations. Am. J. Hum. Genet. 67 [Suppl. 2], 403.
-
Van
Der Loop, F.T., Heidet, L., Timmer, E.D., Van Den Bosch, B.J.,
Leinonen, A., Antignac, C., Jefferson, J.A., Maxwell, A.P.,
Monnens, L.A., Schroder, C.H., Smeets, H.J. (2000) Autosomal
dominant Alport syndrome caused by a COL4A3 splice site mutation.
Kidney Int. 58(5):1870-1875.
-
Benit,
P., Kara-Mostefa, A., Berthelon, M., Sengmany, K., Munnich,
A., Bonnefont, J.P. (2000) Mutation analysis of the hamartin
gene using denaturing high performance liquid chromatography.
Hum. Mutat. 16(5):417-421.
-
Buyse,
I.M., Fang, P., Hoon, K.T., Amir, R.E., Zoghbi, H.Y., Roa, B.B.
(2000) Diagnostic Testing for Rett Syndrome by DHPLC and Direct
Sequencing Analysis of the MECP2 Gene: Identification of Several
Novel Mutations and Polymorphisms. Am. J. Hum. Genet. Dec;67(6):1428-36
-
Kleymenova,
E., Muga, S., Fischer, S., Walker, C.L. (2000) Application
of high-performance liquid chromatography-based analysis of
DNA fragments to molecular carcinogenesis. Mol. Carcinog. 29(2):51-58.
-
Kiechle,
M., Gross, E., Schwarz-Boeger, U., Pfisterer, J., Jonat, W.,
Gerber, W.D., Albacht, B., Fischer, B., Schlegelberger, B.,
Arnold, N. (2000). Ten novel BRCA1 and BRCA2 mutations in
breast and/or ovarian cancer families from northern Germany.
Hum. Mutat. 16(6):529-530.
-
Escary,
J.L., Cecillon, M., Maciazek, J., Lathrop, M., Tournier-Lasserve,
E., Joutel, A. (2000) Evaluation of DHPLC analysis in mutational
scanning of Notch3, a gene with a high G-C content. Hum. Mutat.
16(6):518-526.
-
Shiri-Sverdlov,
R., Oefner, P., Green, L., Baruch, R.G., Wagner, T., Kruglikova,
A., Haitchick, S., Hofstra, R.M., Papa, M.Z., Mulder, I., Rizel,
S., Bar Sade, R.B., Dagan, E., Abdeen, Z., Goldman, B., Friedman,
E. (2000) Mutational analyses of BRCA1 and BRCA2 in Ashkenazi
and non-Ashkenazi Jewish women with familial breast and ovarian
cancer. Hum. Mutat. 16(6):491-501
-
Pirulli,
D., Giordano, M., Puzzer, D., Crovella, S., Rigato, I., Tiribelli,
C., Momigliano-Richiardi, P., Amoroso, A. (2000) Rapid method
for detection of extra (TA) in the promoter of the bilirubin-UDP-glucuronosyl
transferase 1 gene associated with Gilbert syndrome. Clin Chem
Jan;46(1):129-31
-
D'Alfonso
S, Rampi M, Rolando V, Giordano M, Momigliano-Richiardi P.
(2000) New polymorphisms in the IL-10 promoter region. Genes
Immun., 1(3):231-3
-
Hecker
KH, Asea A, Kobayashi K, Green S, Tang D, Calderwood SK.
(2000) Mutation detection in the human HSP7OB' gene by denaturing
high-performance liquid chromatography. Cell Stress Chaperones.,
5(5):415-24
-
Erlandson
A, Stibler H, Kristiansson B, Wahlstrom J, Martinsson T.
(2000) Denaturing high-performance liquid chromatography is
a suitable method for PMM2 mutation screening in carbohydrate-deficient
glycoprotein syndrome type IA patients. Genet Test., 4(3):293-7
-
Orrico A, Lam C, Galli L, Dotti MT, Hayek
G, Tong SF, Poon PM, Zappella M, Federico A, Sorrentino V.
(2000) MECP2 mutation in male patients with non-specific X-linked
mental retardation. FEBS Lett. Sep 22;481(3):285-8.
-
Lam
CW, Yeung WL, Ko CH, Poon PM, Tong SF, Chan KY, Lo IF, Chan
LY, Hui J, Wong V, Pang CP, Lo YM, Fok TF. (2000) Spectrum
of mutations in the MECP2 gene in patients with infantile autism
and Rett syndrome. J Med Genet. Dec;37(12):E41.
-
Austin,
J., Buckland, P., Cardno, A.G., Williams, N., Spurlock, G.,
Hoogendoorn, B., Zammit, S., Jones, G., Sanders, R., Jones,
L., McCarthy, G., Jones, S., Bray, N.J., McGuffin, P., Owen,
M.J., and O'Donovan, M.C. (2000). The high affinity neurotensin
receptor gene (NTSR1): comparative sequencing and association
studies in schizophrenia. Mol. Psychiatry. Sep;5(5):552-557
-
Austin,
J., Hoogendoorn, B., Buckland, P., Speight, G., Cardno, A.,
Bowen, T., Williams, N., Spulock, G., Sanders, R., Jones, L.,
Murphy, K., McCarthy, G., McGuffin, P., Owen, M.J., and O´Donovan,
M.C. (2000). Comparative sequencing of the proneurotensin
gene and association studies in schizophrenia. Mol. Psychiatry
5, 208-212.
-
Geurts,
J.M.W., Janssen, R.G.J.H., van Greevenbroek, M.M.J., van der
Kallen, C.J.H., Cantor, R.M., Bu, X., Aouizerat, B.E., Allayee,
H., Rotter, J.I., and de Bruin, T.W.A. (2000). Identification
of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia.
Hum. Mol. Genet. 9, 2067-2074.
-
Hauser,
M.T., Horrigan, S.K., Salmikangas, P., Torian, U.M., Viles,
K.D., Dancel, R., Tim, R.W., Taivainen, A., Bartoloni, L., Gilchrist,
J.M., Stajich, J.M., Gaskell, P.C., Gilbert, J.R., Vance, J.M.,
Pericak-Vance, M.A., Carpen, O., Westbrook, C.A., and Speer,
M.C. (2000). Myotilin is mutated in limb girdle muscular
dystrophy 1A. Hum. Mol. Genet. 9, 2141-2147.
-
Liu,
W., Mai, M., Yokomizo, A., Qian, C., Tindall, D.J., Smith, D.I.,
Thibodeau, S.N. (2000). Differential expression and allelotyping
of the p73 gene in neuroblastoma. Int. J. Oncol. 16, 181-185.
-
Rivera,
A., White, K., Stohr, H., Steiner, K., Hemmrich, N., Grimm,
T., Jurklies, B., Lorenz, B., Scholl, H.P.N., Apfelstedt-Sylla,
E., and Weber, B.H.F. (2000). A comprehensive survey of
sequence variation in the ABCA4 (ABCR) gene in Stargardt disease
and age-related macular degeneration. Am. J. Hum. Genet. 67,
800-813.
-
Gross,
E., Arnold, N., Pfeifer, K., Bandick, K., Kiechle, M. (2000)
Identification of specific BRCA1 and BRCA2 variants by DHPLC.
Hum. Mutat. 16(4):345-353.
-
Wagner,
T., Moeslinger, R., Muhr, D., Richards, D., Schreiber, M., Fleischmann,
E., Austrian Hereditary Breast and Ovarian Cancer Group, Langbauer,
G., Zielinski, C., Jin, L., Oefner, P. (2000) BRCA1 and
BRCA2 analysis of 268 HBOC and HBC families by DHPLC. Am. J.
Hum. Genet. 67 [Suppl. 2], 87.
-
Shiri-Sverdlov,
R., Oefner, P., Gershoni-Baruch, R., Green, L., Hofstra, R.M.W.,
Wagner, T., Friedman, E. (2000) Mutational analyses of BRCA1
and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial
breast and ovarian cancer. Am. J. Hum. Genet. 67 [Suppl. 2],
88.
-
Moeslinger,
R., Wagner, T., Langbauer, G., Austrian HBOC Group, Fleischmann,
E., Autherith, A., Friedmann, A., Helbich, T., Oefner, P.
(2000) Attitude towards prophylactic surgery and effects of
genetic counselling in families with BRCA mutations. Am. J.
Hum. Genet. 67 [Suppl. 2], 202.
-
Kiechle,
M., Gross, E., Schwarz-Boeger, U., Pfisterer, J., Jonat, W.,
Gerber, W.D., Albacht, B., Fischer, B., Schlegelberger, B.,
Arnold, N. (2000). Ten novel BRCA1 and BRCA2 mutations in
breast and/or ovarian cancer families from northern Germany.
Hum. Mutat. 16(6):529-530.
-
Shiri-Sverdlov,
R., Oefner, P., Green, L., Baruch, R.G., Wagner, T., Kruglikova,
A., Haitchick, S., Hofstra, R.M., Papa, M.Z., Mulder, I., Rizel,
S., Bar Sade, R.B., Dagan, E., Abdeen, Z., Goldman, B., Friedman,
E. (2000) Mutational analyses of BRCA1 and BRCA2 in Ashkenazi
and non-Ashkenazi Jewish women with familial breast and ovarian
cancer. Hum. Mutat. 16(6):491-501.
-
Jones,
A.C., Sampson, J.R., Hoogendoorn, B., Cohen, D., Cheadle, J.P.
(2000) Application and evaluation of denaturing HPLC for molecular
genetic analysis in tuberous sclerosis. Hum. Genet. 106(6):663-668.
-
Benit,
P., Kara-Mostefa, A., Berthelon, M., Sengmany, K., Munnich,
A., Bonnefont, J.P. (2000) Mutation analysis of the hamartin
gene using denaturing high performance liquid chromatography.
Hum. Mutat. 16(5):417-421.
-
Schriml,
L.M., Peterson, R.J., Gerrard, B., Dean, M. (2000) Use of
denaturing HPLC to map human and murine genes and to validate
single-nucleotide polymorphisms. BioTechniques 28(4):740-745.
-
Schriml,
L.M., Dean, M. (2000) Identification of 18 mouse ABC genes
and characterization of the ABC superfamily in Mus musculus.
Genomics 64(1):24-31.
-
Steinmetz,
L.M., Mindrinos, M., Oefner P.J. (2000) Combining genome
sequences and new technologies for dissecting the genetics of
complex phenotypes. Trends Plant Sci. 5(9):397-401.
-
Spiegelman
JI, Mindrinos MN, Fankhauser C, Richards D, Lutes J, Chory J,
Oefner PJ. (2000) Cloning of the Arabidopsis RSF1 gene by
using a mapping strategy based on high-density DNA arrays and
denaturing high-performance liquid chromatography. Plant Cell.
2000, 12(12):2485-2498
-
McCallum,
C.M., Comai, L., Greene, E.A., Henikoff, S. (2000) Targeted
screening for induced mutations. Nat. Biotechnol. 18(4):455-457.
-
McCallum,
C.M., Comai, L., Greene, E.A., and Henikoff, S. (2000).
Targeting induced local lesions IN genomes (TILLING) for plant
functional genomics. Plant Physiol. 123, 439-442.
-
Bentley,
A., MacLennan, B., Calvo, J., Dearolf, C.R. (2000) Targeted
Recovery of Mutations in Drosophila. Genetics 156(3):1169-1173.
-
Shen,
P., Wang, F., Underhill, P.A., Franco, C., Yang, W.H., Roxas,
A., Sung, R., Lin, A.A., Hyman, R.W., Vollrath, D., Davis, R.W.,
Cavalli-Sforza, L.L., Oefner, P.J. (2000) Population genetic
implications from sequence variation in four Y chromosome genes.
Proc. Natl. Acad. Sci. USA 97(13):7354-7359.
-
Thomson,
R., Pritchard, J.K, Shen, P., Oefner, P.J., Feldman, M.W.
(2000) Recent common ancestry of human Y chromosomes: Evidence
from DNA sequence data.. Proc. Natl. Acad. Sci. USA 97(13):7360-7365.
-
Su,
B., Jin, L., Underhill, P., Martinson, J., Saha, N., McGarvey,
S.T., Shriver, M.D., Chu, J., Oefner, P., Chakraborty, R., Deka,
R. (2000) Polynesian origins: Insights from the Y chromosome.
Proc. Natl. Acad. Sci. USA, 97(15):8225-8228.
-
Underhill,
P.A., Shen, P., Lin, A.A., Jin, L., Passarino, G., Yang, W.H.,
Kauffman, E., Bonne-Tamir, B., Bertranpetit, J., Francalacci,
P., Ibrahim, M., Jenkins, T., Kidd, J.R., Mehdi, S.Q., Seielstad,
M.T., Wells, R.S., Piazza, A., Davis, R.W., Feldman, M.W., Cavalli-Sforza,
L.L., Oefner, P.J. (2000) Y chromosome sequence variation
and the history of human populations. Nat. Genet. 26(3):358-361.
-
Semino,
O., Passarino, G., Oefner, P.J., Lin, A.A., Arbuzova, S., Beckman,
L.E., De Bendictis, G., et al. (2000) The genetic legacy
of paleolithic Homo sapiens sapiens in extant Europeans: A Y
chromosome perspective. Science 290: 1155-1159.
-
Hammer
MF, Redd AJ, Wood ET, Bonner MR, Jarjanazi H, Karafet T, Santachiara-Benerecetti
S, Oppenheim A, Jobling MA, Jenkins T, Ostrer H, Bonne-Tamir
B. (2000) Jewish and Middle Eastern non-Jewish populations
share a common pool of Y-chromosome biallelic haplotypes. Proc
Natl Acad Sci U S A, Jun 6;97(12):6769-74.
-
Yoshihashi,
H., Kosaki, R., Suzuki, T., Ohashi, Y., Matsuo, N., Kosaki,
K. (2000) Quantification of homologous alleles and methylation
analysis by single-nucleotide primer extension and fluorescence-based
DHPLC. Am. J. Hum. Genet. 67 [Suppl. 2], 245.
-
Hoogendoorn,
B., Norton, N., Kirov, G., Williams, N., Hamshere, M., Spurlock,
G., Austin, J., Stephens, M., Buckland, P., Owen, M. (2000)
Cheap, accurate and rapid allele frequency estimation of single
nucleotide polymorphisms by primer extension and DHPLC in DNA
pools. Hum Genet. 2000, 107(5):488-93
-
Shaw-Bruha,
C.M., Lamb, K.A. (2000) Ion pair-reversed phase HPLC approach
facilitates subcloning of PCR products and screening of recombinant
colonies. BioTechniques 28(4):794-797.
-
Dickman,
M., Hornby, D.P. (2000) Isolation of single-stranded DNA
using denaturing DNA chromatography. Anal. Biochem. 284(1):164-167.
-
Georgopoulos,
D.E., Leibowitz, M.J. (2000) Use of high-performance liquid
chromatographic fractionation of large RNA molecules in the
assay of group I intron ribozyme activity. J. Chromatogr. A.
868(1):109-114.
-
Hecker,
K.H., Green, S.M., Kobayashi, K. (2000) Analysis and purification
of nucleic acids by ion-pair reversed-phase high-performance
liquid chromatography. J. Biochem. Biophys. Methods 46(1-2):83-93.
-
Premstaller,
A., Oberacher, H., Huber, C.G. (2000) High-performance liquid
chromatography-electrospray ionization mass spectrometry of
single- and double-stranded nucleic acids using monolithic capillary
columns. Anal. Chem. 72(18):4386-4393.
-
Huber,
C.G., Krajete, A. (2000) Comparison of direct infusion and
on-line liquid chromatography/electrospray ionization mass spectrometry
for the analysis of nucleic acids. J. Mass. Spectrom. 35(7):870-877.
-
Huber,
C.G., Krajete, A. (2000) Sheath liquid effects in capillary
high-performance liquid chromatography-electrospray mass spectrometry
of oligonucleotides. J. Chromatogr. 870(1-2):413-424.
-
Devaney,
J.M., Girard, J.E., Marino, M.A. (2000) DNA microsatellite
analysis using ion-pair reversed-phase high-performance liquid
chromatography. Anal. Chem. 72(4):858-864.
-
Hoogendoorn
B, Norton N, Kirov G, Williams N, Hamshere ML, Spurlock G, Austin
J, Stephens MK, Buckland PR, Owen MJ, O'Donovan MC. (2000)
Cheap, accurate and rapid allele frequency estimation of single
nucleotide polymorphisms by primer extension and DHPLC in DNA
pools. Hum Genet. Nov;107(5):488-93
-
Bray,
P.J., and Paalman, M.H. (2000). DNA 2000: International
Symposium on the state-of-the-art in genetics analysis, June
1-3, 2000, Boston, USA. Hum. Mutat. 16, 364-370.
-
Yokomizo, A., Tindall, D., Taniguchi, K.,
Oefner, P.J., Smith, D.I., Liu, W. (2000) Denaturizing
HPLC Analysis: A New Method to Examine Allelic Loss in Cancers.
Proceedings of the 2000 Miami Nature Biotechnology Winter Symposium,
p10.
-
Krishnadath, KK. Taniguchi, K. Buttar, NS.
Anderson, MA. Lutzke, LS. Liu, W. Qian, C. Yang, P. Smith, DI.
Wang, KK. (2000) Detection of genetic mutations in Barrett's
esophagus using denaturing high pressure liquid chromatography
(DHPLC). Gastroenterology 118, Suppl. 2, Part 1, A224.
-
Taniguchi, K. Krishnadath, KK. Qian, C.
Yang, P. Smith, DI. Wang, KK. Liu, W. (2000) High sensitivity
of denaturing high performance liquid chromatography (DHPLC)
in detection of p53 mutations in adenocarcinoma of the esophagus.
Proceedings American Association for Cancer Research Annual
Meeting, p.624.
-
Seelan
RS, Qian C, Yokomizo A, Bostwick DG, Smith DI, Liu W (2000)
Human acid ceramidase is overexpressed but not mutated in prostate
cancer. Genes Chromosomes Cancer. Oct;29(2):137-46
-
Liu W, Dong X, Mai M, Seelan RS, Taniguchi
K, Krishnadath KK, Halling KC, Cunningham JM, Boardman LA, Qian
C, Christensen E, Schmidt SS, Roche PC, Smith DI, Thibodeau
SN. (2000) Mutations in AXIN2 cause colorectal cancer
with defective mismatch repair by activating beta-catenin/TCF
signalling. Nat Genet. Oct;26(2):146-7.
-
Pickering-Brown
S, Baker M, Yen SH, Liu WK, Hasegawa M, Cairns N, Lantos PL,
Rossor M, Iwatsubo T, Davies Y, Allsop D, Furlong R, Owen F,
Hardy J, Mann D, Hutton M. (2000) Pick's disease is associated
with mutations in the tau gene. Ann Neurol. Dec;48(6):859-67.
-
Speckman
RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI,
Lovett M, Bowcock AM. (2000) Mutational and haplotype analyses
of families with familial partial lipodystrophy (Dunnigan variety)
reveal recurrent missense mutations in the globular C-terminal
domain of lamin A/C. Am J Hum Genet Apr;66(4):1192-1198.
-
Bitner-Glindzicz
M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain
K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien
RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne
MJ, Aynsley-Green A, Glaser B. (2000) A recessive contiguous
gene deletion causing infantile hyperinsulinism, enteropathy
and deafness identifies the Usher type 1C gene. Nat Genet.Sep;26(1):56-60.
-
Craig
IW, McClay J, Plomin R, Freeman B. (2000) Chasing behaviour
genes into the next millenium. TIBTECH, 18:22-26.
-
Dickman
M, Hornby DP. (2000) Isolation of single-stranded DNA using
denaturing DNA chromatography. Anal Biochem. Aug 15;284(1):164-7.
-
Kainer
DB, Doris PA. (2000). Cyclophilin B expression in renal
proximal tubules of hypertensive rats. Hypertension 35, 958-964.
-
Lowrey
PL, Shimomura K, Antoch MP, Yamazaki S, Zemenides PD, Ralph
MR, Menaker M, Takahashi JS. (2000). Positional syntenic
cloning and functional characterization of the mammalian circadian
mutation tau. Science 288, 483-491.
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