-
1
-
-
50749093820
-
The incidence of alkaptonuria: A study in chemical individuality
-
Garrod A. The incidence of alkaptonuria: A study in chemical individuality. Lancet 2 (1902) 1616-1620
-
(1902)
Lancet
, vol.2
, pp. 1616-1620
-
-
Garrod, A.1
-
2
-
-
0029740946
-
The molecular basis of alkaptonuria
-
Fernández-Cañón J.M., Granadino B., Beltrán-Valero de Bernabé D., Renedo M., Fernández-Ruiz E., Peñalva M.A., and Rodríguez de Córdoba S. The molecular basis of alkaptonuria. Nat. Genet. 14 (1996) 19-24
-
(1996)
Nat. Genet.
, vol.14
, pp. 19-24
-
-
Fernández-Cañón, J.M.1
Granadino, B.2
Beltrán-Valero de Bernabé, D.3
Renedo, M.4
Fernández-Ruiz, E.5
Peñalva, M.A.6
Rodríguez de Córdoba, S.7
-
3
-
-
0346928331
-
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients
-
Beltrán-Valero de Bernabé D., Granadino B., Chiarelli I., Porfirio B., Mayatepek E., Aquaron R., Moore M.M., Festen J.J., Sanmartí R., Peñalva M.A., and de Córdoba S.R. Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. Am. J. Hum. Genet. 62 (1998) 776-784
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 776-784
-
-
Beltrán-Valero de Bernabé, D.1
Granadino, B.2
Chiarelli, I.3
Porfirio, B.4
Mayatepek, E.5
Aquaron, R.6
Moore, M.M.7
Festen, J.J.8
Sanmartí, R.9
Peñalva, M.A.10
de Córdoba, S.R.11
-
4
-
-
43449107941
-
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene
-
Bercovich D., Elimelech A., Zlotogora J., Korem S., Yardeni T., Gal N., Goldstein N., Vilensky B., Segev R., Avraham S., et al. Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene. J. Hum. Genet. 53 (2008) 407-418
-
(2008)
J. Hum. Genet.
, vol.53
, pp. 407-418
-
-
Bercovich, D.1
Elimelech, A.2
Zlotogora, J.3
Korem, S.4
Yardeni, T.5
Gal, N.6
Goldstein, N.7
Vilensky, B.8
Segev, R.9
Avraham, S.10
-
5
-
-
48449101041
-
ATM gene mutations result in both recessive and dominant expression phenoytpes of genes and microRNAs
-
Smirnov D.A., and Cheung V.G. ATM gene mutations result in both recessive and dominant expression phenoytpes of genes and microRNAs. Am. J. Hum. Genet. 83 (2008) 243-253
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 243-253
-
-
Smirnov, D.A.1
Cheung, V.G.2
-
6
-
-
33847053927
-
DAX1: Increasing complexity in the roles of this novel nuclear receptor
-
McCabe E.R.B. DAX1: Increasing complexity in the roles of this novel nuclear receptor. Mol. Cell. Endocrinol. 265-266 (2007) 179-182
-
(2007)
Mol. Cell. Endocrinol.
, vol.265-266
, pp. 179-182
-
-
McCabe, E.R.B.1
-
7
-
-
17544366508
-
Effect of the D178N mutation and the codon 129 polymorphism on the metabolism of the prion protein
-
Petersen R.B., Parchi P., Richardson S.L., Urig C.B., and Gambetti P. Effect of the D178N mutation and the codon 129 polymorphism on the metabolism of the prion protein. J. Biol. Chem. 271 (1996) 12661-12668
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 12661-12668
-
-
Petersen, R.B.1
Parchi, P.2
Richardson, S.L.3
Urig, C.B.4
Gambetti, P.5
-
8
-
-
0032706491
-
Novel twelve-generation kindred of fatal familial insomnia from Germany representing the entire spectrum of disease expression
-
Harder A., Jendroska K., Kreuz F., Wirth T., Schafranka C., Karnatz N., Théallier-Janko A., Dreier J., Lohan K., Emmerich D., et al. Novel twelve-generation kindred of fatal familial insomnia from Germany representing the entire spectrum of disease expression. Am. J. Med. Genet. 87 (1999) 311-316
-
(1999)
Am. J. Med. Genet.
, vol.87
, pp. 311-316
-
-
Harder, A.1
Jendroska, K.2
Kreuz, F.3
Wirth, T.4
Schafranka, C.5
Karnatz, N.6
Théallier-Janko, A.7
Dreier, J.8
Lohan, K.9
Emmerich, D.10
-
9
-
-
0036459944
-
Mutations of the prion protein gene phenotypic spectrum
-
Kovacs G.G., Trabattoni G., Hainfellner J.A., Ironside J.W., Knight R.S., and Budka H. Mutations of the prion protein gene phenotypic spectrum. J. Neurol. 249 (2002) 1567-1582
-
(2002)
J. Neurol.
, vol.249
, pp. 1567-1582
-
-
Kovacs, G.G.1
Trabattoni, G.2
Hainfellner, J.A.3
Ironside, J.W.4
Knight, R.S.5
Budka, H.6
-
10
-
-
33646702163
-
Aysmptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNAs
-
Zhang Y.H., Huang B.L., Jialal I., Northrup H., McCabe E.R., and Dipple K.M. Aysmptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNAs. Pediatr. Res. 59 (2006) 590-592
-
(2006)
Pediatr. Res.
, vol.59
, pp. 590-592
-
-
Zhang, Y.H.1
Huang, B.L.2
Jialal, I.3
Northrup, H.4
McCabe, E.R.5
Dipple, K.M.6
-
11
-
-
15444368896
-
A rational treatment of mendelian genetics
-
Porteous J.W. A rational treatment of mendelian genetics. Theor. Biol. Med. Model. 1 (2004) 6-23
-
(2004)
Theor. Biol. Med. Model.
, vol.1
, pp. 6-23
-
-
Porteous, J.W.1
-
12
-
-
0033911995
-
Phenotypes of patients with "simple" mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics
-
Dipple K.M., and McCabe E.R.B. Phenotypes of patients with "simple" mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics. Am. J. Hum. Genet. 66 (2000) 1729-1735
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1729-1735
-
-
Dipple, K.M.1
McCabe, E.R.B.2
-
13
-
-
33744475085
-
A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter
-
De Gobbi M., Viprakasit V., Hughes J.R., Fisher C., Buckle V.J., Ayyub H., Gibbons R.J., Vernimmen D., Yoshinaga Y., de Jong P., et al. A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. Science 312 (2006) 1215-1217
-
(2006)
Science
, vol.312
, pp. 1215-1217
-
-
De Gobbi, M.1
Viprakasit, V.2
Hughes, J.R.3
Fisher, C.4
Buckle, V.J.5
Ayyub, H.6
Gibbons, R.J.7
Vernimmen, D.8
Yoshinaga, Y.9
de Jong, P.10
-
14
-
-
33846978695
-
Relative impact of nucleotide and copy number variation on gene expression phenotypes
-
Stranger B.E., Forrest M.S., Dunning M., Ingle C.E., Beazley C., Thorne N., Redon R., Bird C.P., de Grassi A., Lee C., et al. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 315 (2007) 848-853
-
(2007)
Science
, vol.315
, pp. 848-853
-
-
Stranger, B.E.1
Forrest, M.S.2
Dunning, M.3
Ingle, C.E.4
Beazley, C.5
Thorne, N.6
Redon, R.7
Bird, C.P.8
de Grassi, A.9
Lee, C.10
-
15
-
-
34347353237
-
Copy number variation and association studies of human disease
-
McCarroll S.A., and Altschuler D.M. Copy number variation and association studies of human disease. Nat. Genet. 39 (2007) S37-S42
-
(2007)
Nat. Genet.
, vol.39
-
-
McCarroll, S.A.1
Altschuler, D.M.2
-
16
-
-
44449134663
-
Gene-environment interactions and epigenetic basis of human diseases
-
Liu L., Li Y., and Tollefsbol T.O. Gene-environment interactions and epigenetic basis of human diseases. Curr. Issues Mol. Biol. 10 (2008) 25-36
-
(2008)
Curr. Issues Mol. Biol.
, vol.10
, pp. 25-36
-
-
Liu, L.1
Li, Y.2
Tollefsbol, T.O.3
-
17
-
-
67649585816
-
-
Battelle, BIO, and Biotechnology Institute. (2009). Taking the pulse of bioscience education in America: A state by state analysis. http://www.battelle.org/spotlight/5-18-09BioEd09.aspx.
-
Battelle, BIO, and Biotechnology Institute. (2009). Taking the pulse of bioscience education in America: A state by state analysis. http://www.battelle.org/spotlight/5-18-09BioEd09.aspx.
-
-
-
-
18
-
-
45149099412
-
Essay contest reveals misconceptions of high school students in genetics content
-
Mills Shaw K.R., Van Horner K., Zhang H., and Boughman J. Essay contest reveals misconceptions of high school students in genetics content. Genetics 178 (2008) 1157-1168
-
(2008)
Genetics
, vol.178
, pp. 1157-1168
-
-
Mills Shaw, K.R.1
Van Horner, K.2
Zhang, H.3
Boughman, J.4
-
19
-
-
67649624511
-
Curriculum matters
-
Popham W.J. Curriculum matters. Am. Sch. Board J. 191 (2004) 30-33
-
(2004)
Am. Sch. Board J.
, vol.191
, pp. 30-33
-
-
Popham, W.J.1
-
21
-
-
18644362498
-
Genetics content in introductory biology courses for non-science majors: Theory and practice
-
Hott A.M., Huether C.A., McInerney J.D., Christianson C., Fowler R., Bender R., Jenkins J., Wysocki A., Markle G., and Karp R. Genetics content in introductory biology courses for non-science majors: Theory and practice. Bioscience 52 (2002) 1024-1035
-
(2002)
Bioscience
, vol.52
, pp. 1024-1035
-
-
Hott, A.M.1
Huether, C.A.2
McInerney, J.D.3
Christianson, C.4
Fowler, R.5
Bender, R.6
Jenkins, J.7
Wysocki, A.8
Markle, G.9
Karp, R.10
-
22
-
-
84968054140
-
Nothing in biology makes sense except in the light of evolution
-
Dobzhansky T.G. Nothing in biology makes sense except in the light of evolution. Am. Biol. Teach. 35 (1973) 125-129
-
(1973)
Am. Biol. Teach.
, vol.35
, pp. 125-129
-
-
Dobzhansky, T.G.1
-
23
-
-
0034894941
-
Public attitudes regarding the donation and storage of blood specimens for genetic research
-
Wang S.S., Fridinger F., Sheedy K.M., and Khoury M.J. Public attitudes regarding the donation and storage of blood specimens for genetic research. Community Genet. 4 (2001) 18-26
-
(2001)
Community Genet.
, vol.4
, pp. 18-26
-
-
Wang, S.S.1
Fridinger, F.2
Sheedy, K.M.3
Khoury, M.J.4
-
24
-
-
37549055414
-
The value of believing in free will: Encouraging a belief in determinism increases cheating
-
Vohs K.D., and Schooler J.W. The value of believing in free will: Encouraging a belief in determinism increases cheating. Psychol. Sci. 19 (2008) 49-54
-
(2008)
Psychol. Sci.
, vol.19
, pp. 49-54
-
-
Vohs, K.D.1
Schooler, J.W.2
-
25
-
-
40149087235
-
Data and theory point to mainly additive genetic variance for complex traits
-
Hill W.G., Goddard M.E., and Visscher P.M. Data and theory point to mainly additive genetic variance for complex traits. PLoS Genet. 4 (2008) e1000008
-
(2008)
PLoS Genet.
, vol.4
-
-
Hill, W.G.1
Goddard, M.E.2
Visscher, P.M.3
-
26
-
-
0141631463
-
-
BSCS, Colorado Springs, CO
-
Bloom M.V., Cutter M.A., Davidson R., Dougherty M.J., Drexler E., Gelernter J., McCullough L.B., McInerney J.D., Murray J., Vogler G.P., and Zola J. Genes, Environment, and Human Behavior (2000), BSCS, Colorado Springs, CO
-
(2000)
Genes, Environment, and Human Behavior
-
-
Bloom, M.V.1
Cutter, M.A.2
Davidson, R.3
Dougherty, M.J.4
Drexler, E.5
Gelernter, J.6
McCullough, L.B.7
McInerney, J.D.8
Murray, J.9
Vogler, G.P.10
Zola, J.11
-
27
-
-
0001072748
-
Zur Kenntnis der mit der keimungsphysiologie des weizens in zusammenhang stehenden inneren faktoren
-
Nilsson-Ehle H. Zur Kenntnis der mit der keimungsphysiologie des weizens in zusammenhang stehenden inneren faktoren. Zeitschrift für Planzenzüctung 2 (1914) 153-187
-
(1914)
Zeitschrift für Planzenzüctung
, vol.2
, pp. 153-187
-
-
Nilsson-Ehle, H.1
-
28
-
-
53149153192
-
Variable modes of inheritance of morphometrical traits in hybrids between Drosophila melanogaster and Drosophila simulans
-
David J.R., Gibert P., Peatavy G., and Moreteau B. Variable modes of inheritance of morphometrical traits in hybrids between Drosophila melanogaster and Drosophila simulans. Proc. Biol. Sci. 269 (2002) 127-135
-
(2002)
Proc. Biol. Sci.
, vol.269
, pp. 127-135
-
-
David, J.R.1
Gibert, P.2
Peatavy, G.3
Moreteau, B.4
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