-
1
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
Abecasis, G. R., D. Altshuler, A. Auton, L. D. Brooks, R. M. Durbin, R. A. Gibbs, et al. 2010. A map of human genome variation from population-scale sequencing. Nature 467:1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Abecasis, G.R.1
Altshuler, D.2
Auton, A.3
Brooks, L.D.4
Durbin, R.M.5
Gibbs, R.A.6
-
2
-
-
0034031238
-
Transthyretin isoleucine-122 mutation in African and American blacks
-
Afolabi, I., A. K. Hamidi, M. Nakamura, P. Jacobs, H. Hendrie, and M. D. Benson. 2000. Transthyretin isoleucine-122 mutation in African and American blacks. Amyloid 7:121-125.
-
(2000)
Amyloid
, vol.7
, pp. 121-125
-
-
Afolabi, I.1
Hamidi, A.K.2
Nakamura, M.3
Jacobs, P.4
Hendrie, H.5
Benson, M.D.6
-
3
-
-
21644469889
-
Drop-in, drop-out allele-specific PCR: A highly sensitive, single-tube method
-
Alexander, A., N. Subramanian, J. N. Buxbaum, and D. R. Jacobson. 2004. Drop-in, drop-out allele-specific PCR: a highly sensitive, single-tube method. Mol. Biotechnol. 28:171-174.
-
(2004)
Mol. Biotechnol
, vol.28
, pp. 171-174
-
-
Alexander, A.1
Subramanian, N.2
Buxbaum, J.N.3
Jacobson, D.R.4
-
4
-
-
84861635833
-
The first Caucasian patient with p.Val122Ile mutated-transthyretin cardiac amyloidosis treated with isolated heart transplantation
-
Ammirati, E., N. Marziliano, C. Vittori, P. Pedrotti, M. A. Bramerio, V. Motta, et al. 2012. The first Caucasian patient with p.Val122Ile mutated-transthyretin cardiac amyloidosis treated with isolated heart transplantation. Amyloid 19:113-117.
-
(2012)
Amyloid
, vol.19
, pp. 113-117
-
-
Ammirati, E.1
Marziliano, N.2
Vittori, C.3
Pedrotti, P.4
Bramerio, M.A.5
Motta, V.6
-
5
-
-
0016913418
-
Familial amyloidosis with polyneuropathy. A clinical study based on patients living in Northern Sweden
-
Andersson, R. 1976. Familial amyloidosis with polyneuropathy. A clinical study based on patients living in Northern Sweden. Acta Med. Scand. 590:1-64.
-
(1976)
Acta Med. Scand
, vol.590
, pp. 1-64
-
-
Andersson, R.1
-
6
-
-
77957180065
-
A peculiar form of peripheral neuropathy. Familial atypical generalized amyloidosis with special involvement of the peripheral nerves
-
Andrade, C. 1952. A peculiar form of peripheral neuropathy. Familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 75:408-427.
-
(1952)
Brain
, vol.75
, pp. 408-427
-
-
Andrade, C.1
-
7
-
-
0014300978
-
Polyneuritic amyloidosis in a Japanese family
-
Araki, S., S. Mawatari, M. Ohta, A. Nakajima, and Y. Kuroiwa. 1968. Polyneuritic amyloidosis in a Japanese family. Arch. Neurol. 18:593-602.
-
(1968)
Arch. Neurol
, vol.18
, pp. 593-602
-
-
Araki, S.1
Mawatari, S.2
Ohta, M.3
Nakajima, A.4
Kuroiwa, Y.5
-
8
-
-
0035672528
-
Cardiac amyloidosis associated with the transthyretin Ile122 mutation in a Caucasian family
-
Asl, K. H., M. Nakamura, T. Yamashita, and M. D. Benson. 2001. Cardiac amyloidosis associated with the transthyretin Ile122 mutation in a Caucasian family. Amyloid 8:263-269.
-
(2001)
Amyloid
, vol.8
, pp. 263-269
-
-
Asl, K.H.1
Nakamura, M.2
Yamashita, T.3
Benson, M.D.4
-
9
-
-
84921811405
-
Genome-wide scan of 29,141 African Americans finds no evidence of directional selection since admixture
-
Bhatia, G., A. Tandon, N. Patterson, M. C. Aldrich, C. B. Ambrosone, C. Amos, et al. 2014. Genome-wide scan of 29,141 African Americans finds no evidence of directional selection since admixture. Am. J. Hum. Genet. 95:437-444.
-
(2014)
Am. J. Hum. Genet
, vol.95
, pp. 437-444
-
-
Bhatia, G.1
Tandon, A.2
Patterson, N.3
Aldrich, M.C.4
Ambrosone, C.B.5
Amos, C.6
-
10
-
-
85045479402
-
TTR familial amyloid polyneuropathy: Does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance
-
Bonaiti, B., M. Olsson, U. Hellman, O. Suhr, C. Bonaiti-Pellie, and V. Plante-Bordeneuve. 2010. TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance? Eur. J. Hum. Genet. 16:149-150.
-
(2010)
Eur. J. Hum. Genet
, vol.16
, pp. 149-150
-
-
Bonaiti, B.1
Olsson, M.2
Hellman, U.3
Suhr, O.4
Bonaiti-Pellie, C.5
Plante-Bordeneuve, V.6
-
11
-
-
76249102674
-
Genome-wide patterns of population structure and admixture in West Africans and African Americans
-
Bryc, K., A. Auton, M. R. Nelson, J. R. Oksenberg, S. L. Hauser, S. Williams, et al. 2010. Genome-wide patterns of population structure and admixture in West Africans and African Americans. Proc. Natl Acad. Sci. USA 107:786-791.
-
(2010)
Proc. Natl Acad. Sci. USA
, vol.107
, pp. 786-791
-
-
Bryc, K.1
Auton, A.2
Nelson, M.R.3
Oksenberg, J.R.4
Hauser, S.L.5
Williams, S.6
-
12
-
-
84920797739
-
The Genetic Ancestry of African Americans, Latinos, and European Americans across the United States
-
Bryc, K., E. Y. Durand, J. M. Macpherson, D. Reich, and J. L. Mountain. 2014. The Genetic Ancestry of African Americans, Latinos, and European Americans across the United States. Am. J. Hum. Genet. 96:37-53.
-
(2014)
Am. J. Hum. Genet
, vol.96
, pp. 37-53
-
-
Bryc, K.1
Durand, E.Y.2
Macpherson, J.M.3
Reich, D.4
Mountain, J.L.5
-
13
-
-
70349323359
-
Transthyretin and the Transthyretin Amyloidoses
-
V. N. Uversky and A. Fink, eds., Springer, Santa Cruz, CA
-
Buxbaum, J. N. 2007. Transthyretin and the Transthyretin Amyloidoses. Pp. 259-283 in V. N. Uversky and A. Fink, eds. Protein misfolding, aggregation, and conformational diseases. Springer, Santa Cruz, CA.
-
(2007)
Protein Misfolding, Aggregation, and Conformational Diseases
, pp. 259-283
-
-
Buxbaum, J.N.1
-
14
-
-
84904043403
-
Silencing of murine transthyretin and retinol binding protein genes has distinct and shared behavioral and neuropathologic effects
-
Buxbaum, J. N., A. J. Roberts, A. Adame, and E. Masliah. 2014. Silencing of murine transthyretin and retinol binding protein genes has distinct and shared behavioral and neuropathologic effects. Neuroscience 275:352-364.
-
(2014)
Neuroscience
, vol.275
, pp. 352-364
-
-
Buxbaum, J.N.1
Roberts, A.J.2
Adame, A.3
Masliah, E.4
-
15
-
-
84953356636
-
The Val142Ile transthyretin cardiac amyloidosis: Not only an Afro-American pathogenic variant? A single-centre Italian experience
-
Cappelli, F., S. Frusconi, F. Bergesio, E. Grifoni, A. Fabbri, C. Giuliani, et al. 2015. The Val142Ile transthyretin cardiac amyloidosis: not only an Afro-American pathogenic variant? A single-centre Italian experience J. Cardiovasc. Med. (Hagerstown) 17:122-125.
-
(2015)
J. Cardiovasc. Med. (Hagerstown)
, vol.17
, pp. 122-125
-
-
Cappelli, F.1
Frusconi, S.2
Bergesio, F.3
Grifoni, E.4
Fabbri, A.5
Giuliani, C.6
-
16
-
-
11144357152
-
Interleukin-8 polymorphism is not associated with pulmonary tuberculosis in the gambia
-
Cooke, G. S., S. J. Campbell, K. Fielding, J. Sillah, K. Manneh, G. Sirugo, et al. 2004. Interleukin-8 polymorphism is not associated with pulmonary tuberculosis in the gambia. J. Infect. Dis. 189:1545-1546.
-
(2004)
J. Infect. Dis
, vol.189
, pp. 1545-1546
-
-
Cooke, G.S.1
Campbell, S.J.2
Fielding, K.3
Sillah, J.4
Manneh, K.5
Sirugo, G.6
-
17
-
-
0023853921
-
The CpG dinucleotide and human genetic disease
-
Cooper, D. N., and H. Youssoufian. 1988. The CpG dinucleotide and human genetic disease. Hum. Genet. 78:151-155.
-
(1988)
Hum. Genet
, vol.78
, pp. 151-155
-
-
Cooper, D.N.1
Youssoufian, H.2
-
18
-
-
0003490570
-
-
The University of Wisconsin Press, Madison, Milwaukee and London
-
Curtin, P. D. 1969. The Atlantic slave trade: a census. The University of Wisconsin Press, Madison, Milwaukee and London.
-
(1969)
The Atlantic Slave Trade: A Census
-
-
Curtin, P.D.1
-
19
-
-
84976462881
-
Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness
-
Damy, T., B. Costes, A. A. Hagege, E. Donal, J. C. Eicher, M. Slama, et al. 2015. Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness. Eur. Heart J. 37:1826-1834.
-
(2015)
Eur. Heart J
, vol.37
, pp. 1826-1834
-
-
Damy, T.1
Costes, B.2
Hagege, A.A.3
Donal, E.4
Eicher, J.C.5
Slama, M.6
-
20
-
-
0033193250
-
Hereditary cardiac amyloidosis associated with the transthyretin Ile122 mutation in a white man
-
Gillmore, J. D., D. R. Booth, M. B. Pepys, and P. N. Hawkins. 1999. Hereditary cardiac amyloidosis associated with the transthyretin Ile122 mutation in a white man. Heart 82:e2.
-
(1999)
Heart
, vol.e2
, pp. 82
-
-
Gillmore, J.D.1
Booth, D.R.2
Pepys, M.B.3
Hawkins, P.N.4
-
21
-
-
0024560416
-
Systemic Senile Amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: Immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy
-
Gorevic, P. D., F. C. Prelli, J. Wright, M. Pras, and B. Frangione. 1989. Systemic Senile Amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy. J. Clin. Invest. 83:836-843.
-
(1989)
J. Clin. Invest
, vol.83
, pp. 836-843
-
-
Gorevic, P.D.1
Prelli, F.C.2
Wright, J.3
Pras, M.4
Frangione, B.5
-
22
-
-
69549114410
-
Measurement of admixture proportions and description of admixture structure in different U.S. populations
-
Halder, I., B. Z. Yang, H. R. Kranzler, M. B. Stein, M. D. Shriver, and J. Gelernter. 2009. Measurement of admixture proportions and description of admixture structure in different U.S. populations. Hum. Mutat. 30:1299-1309.
-
(2009)
Hum. Mutat
, vol.30
, pp. 1299-1309
-
-
Halder, I.1
Yang, B.Z.2
Kranzler, H.R.3
Stein, M.B.4
Shriver, M.D.5
Gelernter, J.6
-
23
-
-
84866246620
-
Biogeographic ancestry, self-identified race, and admixture-phenotype associations in the Heart SCORE Study
-
Halder, I., K. E. Kip, S. R. Mulukutla, A. N. Aiyer, O. C. Marroquin, G. S. Huggins, et al. 2012. Biogeographic ancestry, self-identified race, and admixture-phenotype associations in the Heart SCORE Study. Am. J. Epidemiol. 176:146-155.
-
(2012)
Am. J. Epidemiol
, vol.176
, pp. 146-155
-
-
Halder, I.1
Kip, K.E.2
Mulukutla, S.R.3
Aiyer, A.N.4
Marroquin, O.C.5
Huggins, G.S.6
-
24
-
-
54249138124
-
Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population
-
Hellman, U., F. Alarcon, H. E. Lundgren, O. B. Suhr, C. Bonaiti-Pellie, and V. Plante-Bordeneuve. 2008. Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid 15:181-186.
-
(2008)
Amyloid
, vol.15
, pp. 181-186
-
-
Hellman, U.1
Alarcon, F.2
Lundgren, H.E.3
Suhr, O.B.4
Bonaiti-Pellie, C.5
Plante-Bordeneuve, V.6
-
25
-
-
49449112665
-
Y-chromosomal evidence of a pastoralist migration through Tanzania to southern Africa
-
Henn, B. M., C. Gignoux, A. A. Lin, P. J. Oefner, P. Shen, R. Scozzari, et al. 2008. Y-chromosomal evidence of a pastoralist migration through Tanzania to southern Africa. Proc. Natl Acad. Sci. USA 105:10693-10698.
-
(2008)
Proc. Natl Acad. Sci. USA
, vol.105
, pp. 10693-10698
-
-
Henn, B.M.1
Gignoux, C.2
Lin, A.A.3
Oefner, P.J.4
Shen, P.5
Scozzari, R.6
-
26
-
-
84879108709
-
Genetic stabilization of transthyretin, cerebrovascular disease, and life expectancy
-
Hornstrup, L. S., R. Frikke-Schmidt, B. G. Nordestgaard, and A. Tybjaerg-Hansen. 2013. Genetic stabilization of transthyretin, cerebrovascular disease, and life expectancy. Arterioscler. Thromb. Vasc. Biol. 33:1441-1447.
-
(2013)
Arterioscler. Thromb. Vasc. Biol
, vol.33
, pp. 1441-1447
-
-
Hornstrup, L.S.1
Frikke-Schmidt, R.2
Nordestgaard, B.G.3
Tybjaerg-Hansen, A.4
-
27
-
-
84934343983
-
Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation
-
Iorio, A., A. F. De, G. M. Di, M. Luigetti, L. Pradotto, A. Mauro, et al. 2014. Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation. Amyloid 22:73-78.
-
(2014)
Amyloid
, vol.22
, pp. 73-78
-
-
Iorio, A.1
De, A.F.2
Di, G.M.3
Luigetti, M.4
Pradotto, L.5
Mauro, A.6
-
28
-
-
24044486560
-
Mitochondrial DNA genetic diversityamong four ethnic groups in Sierra Leone
-
Jackson, B. A., J. L. Wilson, S. Kirbah, S. S. Sidney, J. Rosenberger, L. Bassie, et al. 2005. Mitochondrial DNA genetic diversityamong four ethnic groups in Sierra Leone. Am. J. Phys. Anthropol. 128:156-163.
-
(2005)
Am. J. Phys. Anthropol
, vol.128
, pp. 156-163
-
-
Jackson, B.A.1
Wilson, J.L.2
Kirbah, S.3
Sidney, S.S.4
Rosenberger, J.5
Bassie, L.6
-
29
-
-
0026543251
-
A specific test for transthyretin 122 (Val-Ile) based on PCR-primer introduced restriction analysis (PCR-PIRA): Confirmation of the gene frequency in Blacks
-
Jacobson, D. R. 1992. A specific test for transthyretin 122 (Val-Ile) based on PCR-primer introduced restriction analysis (PCR-PIRA): confirmation of the gene frequency in Blacks. Am. J. Hum. Genet. 50:195-198.
-
(1992)
Am. J. Hum. Genet
, vol.50
, pp. 195-198
-
-
Jacobson, D.R.1
-
30
-
-
0025335359
-
A homozygous transthyretin variant associated with senile systemic amyloidosis: Evidence for a late-onset disease of genetic etiology
-
Jacobson, D. R., P. D. Gorevic, and J. N. Buxbaum. 1990. A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology. Am. J. Hum. Genet. 47:127-136.
-
(1990)
Am. J. Hum. Genet
, vol.47
, pp. 127-136
-
-
Jacobson, D.R.1
Gorevic, P.D.2
Buxbaum, J.N.3
-
31
-
-
0028910933
-
Transthyretin Ser 6 gene frequency in individuals without amyloidosis
-
Jacobson, D. R., I. L. Alves, M. J. Saraiva, S. N. Thibodeau, and J. N. Buxbaum. 1995. Transthyretin Ser 6 gene frequency in individuals without amyloidosis. Hum. Genet. 95:308-312.
-
(1995)
Hum. Genet
, vol.95
, pp. 308-312
-
-
Jacobson, D.R.1
Alves, I.L.2
Saraiva, M.J.3
Thibodeau, S.N.4
Buxbaum, J.N.5
-
32
-
-
85045448709
-
The origin of the transthyretin Ile 122 allele: Haplotype analysis and population studies
-
R. A. Kyle, ed., NY, London
-
Jacobson, D. R., J. Schneider, M. Sobel, J. Yang, S. Malendowicz, J. Sobol, et al. 1998. The origin of the transthyretin Ile 122 allele: haplotype analysis and population studies. Pp. 227-229 in R. A. Kyle, ed. Amyloid and amyloidosis. Parthenon; NY, London.
-
(1998)
Amyloid and Amyloidosis. Parthenon
, pp. 227-229
-
-
Jacobson, D.R.1
Schneider, J.2
Sobel, M.3
Yang, J.4
Malendowicz, S.5
Sobol, J.6
-
33
-
-
84940036342
-
Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans
-
Jacobson, D. R., A. A. Alexander, C. Tagoe, and J. N. Buxbaum. 2015. Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans. Amyloid 22:171-174.
-
(2015)
Amyloid
, vol.22
, pp. 171-174
-
-
Jacobson, D.R.1
Alexander, A.A.2
Tagoe, C.3
Buxbaum, J.N.4
-
34
-
-
84861421529
-
The transthyretin amyloidoses: From delineating the molecular mechanism of aggregation linked to pathology to a regulatory-agency-approved drug
-
Johnson, S. M., S. Connelly, C. Fearns, E. T. Powers, and J. W. Kelly. 2012. The transthyretin amyloidoses: from delineating the molecular mechanism of aggregation linked to pathology to a regulatory-agency-approved drug. J. Mol. Biol. 42:185-203.
-
(2012)
J. Mol. Biol
, vol.42
, pp. 185-203
-
-
Johnson, S.M.1
Connelly, S.2
Fearns, C.3
Powers, E.T.4
Kelly, J.W.5
-
35
-
-
0023878377
-
Study of HLA antigens in a population of Mali (West Africa)
-
Kalidi, I., Y. Fofana, A. A. Rahly, V. Bochu, C. Dehay, J. Gony, et al. 1988. Study of HLA antigens in a population of Mali (West Africa). Tissue Antigens 31:98-102.
-
(1988)
Tissue Antigens
, vol.31
, pp. 98-102
-
-
Kalidi, I.1
Fofana, Y.2
Rahly, A.A.3
Bochu, V.4
Dehay, C.5
Gony, J.6
-
36
-
-
0036846492
-
Type I (Transthyretin Met30) familial amyloid polyneuropathy in Japan: Early-versus late-onset form
-
Koike, H., K. Misu, S. Ikeda, Y. Ando, M. Nakazato, E. Ando, et al. 2002. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early-versus late-onset form. Arch. Neurol. 59:1771-1776.
-
(2002)
Arch. Neurol
, vol.59
, pp. 1771-1776
-
-
Koike, H.1
Misu, K.2
Ikeda, S.3
Ando, Y.4
Nakazato, M.5
Ando, E.6
-
37
-
-
0032549128
-
Spectralgenotyping of human alleles
-
Kostrikis, L. G., S. Tyagi, M. M. Mhlanga, D. D. Ho, and F. R. Kramer. 1998. Spectralgenotyping of human alleles. Science 279:1228-1229.
-
(1998)
Science
, vol.279
, pp. 1228-1229
-
-
Kostrikis, L.G.1
Tyagi, S.2
Mhlanga, M.M.3
Ho, D.D.4
Kramer, F.R.5
-
38
-
-
80052350163
-
Neuronal production of transthyretin in human and murine Alzheimer's disease: Is it protective
-
Li, X., E. Masliah, N. Reixach, and J. N. Buxbaum. 2011. Neuronal production of transthyretin in human and murine Alzheimer's disease: is it protective? J. Neurosci. 31:12483-12490.
-
(2011)
J. Neurosci
, vol.31
, pp. 12483-12490
-
-
Li, X.1
Masliah, E.2
Reixach, N.3
Buxbaum, J.N.4
-
39
-
-
84927709444
-
Self-reported race/ethnicity in the age of genomic research: Its potential impact on understanding health disparities
-
Mersha, T. B., and T. Abebe. 2015. Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities. Hum. Genomics 9:1.
-
(2015)
Hum. Genomics
, vol.9
, pp. 1
-
-
Mersha, T.B.1
Abebe, T.2
-
40
-
-
0033182406
-
Different response to Plasmodium falciparum in west African sympatric ethnic groups: Possible implications for malaria control strategies
-
Modiano, D., V. Petrarca, B. S. Sirima, G. Luoni, I. Nebie, D. A. Diallo, et al. 1999. Different response to Plasmodium falciparum in west African sympatric ethnic groups: possible implications for malaria control strategies. Parassitologia 41:193-197.
-
(1999)
Parassitologia
, vol.41
, pp. 193-197
-
-
Modiano, D.1
Petrarca, V.2
Sirima, B.S.3
Luoni, G.4
Nebie, I.5
Diallo, D.A.6
-
41
-
-
77956242877
-
African and non-African admixture components in African Americans and an African Caribbean population
-
Murray, T., T. H. Beaty, R. A. Mathias, N. Rafaels, A. V. Grant, M. U. Faruque, et al. 2010. African and non-African admixture components in African Americans and an African Caribbean population. Genet. Epidemiol. 34:561-568.
-
(2010)
Genet. Epidemiol
, vol.34
, pp. 561-568
-
-
Murray, T.1
Beaty, T.H.2
Mathias, R.A.3
Rafaels, N.4
Grant, A.V.5
Faruque, M.U.6
-
42
-
-
44949277138
-
Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122)
-
Nichols, W. C., J. J. Liepnieks, E. L. Snyder, and M. D. Benson. 1991. Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122). J. Lab. Clin. Med. 117:175-180.
-
(1991)
J. Lab. Clin. Med
, vol.117
, pp. 175-180
-
-
Nichols, W.C.1
Liepnieks, J.J.2
Snyder, E.L.3
Benson, M.D.4
-
43
-
-
84869792701
-
Allele specific expression of the transthyretin gene in swedish patients with hereditary transthyretin amyloidosis (ATTR V30M) is similar between the two alleles
-
Norgren, N., U. Hellman, B. G. Ericzon, M. Olsson, and O. B. Suhr. 2012. Allele specific expression of the transthyretin gene in swedish patients with hereditary transthyretin amyloidosis (ATTR V30M) is similar between the two alleles. PLoS ONE 7:e49981.
-
(2012)
Plos ONE
, pp. 7
-
-
Norgren, N.1
Hellman, U.2
Ericzon, B.G.3
Olsson, M.4
Suhr, O.B.5
-
44
-
-
85045480533
-
Mitochondrial haplogroup is associated with the phenotype of familial amyloidosis with polyneuropathy in Swedish and French patients
-
Olsson, M., U. Hellman, V. Plante-Bordeneuve, J. Jonasson, K. Lang, and O. B. Suhr. 2008. Mitochondrial haplogroup is associated with the phenotype of familial amyloidosis with polyneuropathy in Swedish and French patients. Clin. Genet. 11:1-7.
-
(2008)
Clin. Genet
, vol.11
, pp. 1-7
-
-
Olsson, M.1
Hellman, U.2
Plante-Bordeneuve, V.3
Jonasson, J.4
Lang, K.5
Suhr, O.B.6
-
45
-
-
77956470387
-
A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers
-
Olsson, M., N. Norgren, K. Obayashi, V. Plante-Bordeneuve, O. B. Suhr, K. Cederquist, et al. 2010. A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers. BMC Med. Genet. 11:130.
-
(2010)
BMC Med. Genet
, vol.11
, pp. 130
-
-
Olsson, M.1
Norgren, N.2
Obayashi, K.3
Plante-Bordeneuve, V.4
Suhr, O.B.5
Cederquist, K.6
-
46
-
-
84888062740
-
Functional variation of the transthyretin gene among human populations and its correlation with amyloidosis phenotypes
-
Polimanti, R., G. M. Di, D. Manfellotto, and M. Fuciarelli. 2013. Functional variation of the transthyretin gene among human populations and its correlation with amyloidosis phenotypes. Amyloid 20:256-262.
-
(2013)
Amyloid
, vol.20
, pp. 256-262
-
-
Polimanti, R.1
Di, G.M.2
Manfellotto, D.3
Fuciarelli, M.4
-
47
-
-
84906242341
-
In silico analysis of TTR gene (Coding and non-coding regions, and interactive network) and its implications in transthyretin-related amyloidosis
-
Polimanti, R., G. M. Di, D. Manfellotto, and M. Fuciarelli. 2014. In silico analysis of TTR gene (coding and non-coding regions, and interactive network) and its implications in transthyretin-related amyloidosis. Amyloid 21:154-162.
-
(2014)
Amyloid
, vol.21
, pp. 154-162
-
-
Polimanti, R.1
Di, G.M.2
Manfellotto, D.3
Fuciarelli, M.4
-
48
-
-
84890378018
-
Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life
-
Reddi, H. V., S. Jenkins, J. Theis, B. C. Thomas, L. H. Connors, F. van Rhee, et al. 2014. Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life. J. Mol. Diagn. 16:68-74.
-
(2014)
J. Mol. Diagn
, vol.16
, pp. 68-74
-
-
Reddi, H.V.1
Jenkins, S.2
Theis, J.3
Thomas, B.C.4
Connors, L.H.5
Van Rhee, F.6
-
49
-
-
0028894911
-
Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (MET30 and TYR77)
-
Reilly, M. M., D. Adams, M. Davis, G. Said, and A. E. Harding. 1995. Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (MET30 and TYR77). J. Neurol. 242:664-668.
-
(1995)
J. Neurol
, vol.242
, pp. 664-668
-
-
Reilly, M.M.1
Adams, D.2
Davis, M.3
Said, G.4
Harding, A.E.5
-
50
-
-
1542357685
-
Tissue damage in the amyloidoses: Transthyretin monomers and nonnative oligomers are the major cytotoxic species in tissue culture
-
Reixach, N., S. Deechongkit, X. Jiang, J. W. Kelly, and J. N. Buxbaum. 2004. Tissue damage in the amyloidoses: transthyretin monomers and nonnative oligomers are the major cytotoxic species in tissue culture. Proc. Natl Acad. Sci. USA 101:2817-2822.
-
(2004)
Proc. Natl Acad. Sci. USA
, vol.101
, pp. 2817-2822
-
-
Reixach, N.1
Deechongkit, S.2
Jiang, X.3
Kelly, J.W.4
Buxbaum, J.N.5
-
51
-
-
0021859346
-
Incidence of Hb Barts and alpha-thalassaemia genotypes in a South African population
-
Rousseau, J., C. G. Mathew, J. S. Rees, E. du Toit, M. C. Botha, and E. H. Harley. 1985. Incidence of Hb Barts and alpha-thalassaemia genotypes in a South African population. Acta Haematol. 73:159-162.
-
(1985)
Acta Haematol
, vol.73
, pp. 159-162
-
-
Rousseau, J.1
Mathew, C.G.2
Rees, J.S.3
Du Toit, E.4
Botha, M.C.5
Harley, E.H.6
-
52
-
-
84906064684
-
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations
-
Rowczenio, D. M., I. Noor, J. D. Gillmore, H. J. Lachmann, C. Whelan, P. N. Hawkins, et al. 2014. Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. Hum. Mutat. 35:E2403-E2412.
-
(2014)
Hum. Mutat
, vol.35
, pp. E2403-E2412
-
-
Rowczenio, D.M.1
Noor, I.2
Gillmore, J.D.3
Lachmann, H.J.4
Whelan, C.5
Hawkins, P.N.6
-
53
-
-
84939553337
-
Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)
-
Santos, D., T. Coelho, M. Alves-Ferreira, J. Sequeiros, D. Mendonca, I. Alonso, et al. 2015. Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M). Euro. J. Hum. Gen. 24:756-760.
-
(2015)
Euro. J. Hum. Gen
, vol.24
, pp. 756-760
-
-
Santos, D.1
Coelho, T.2
Alves-Ferreira, M.3
Sequeiros, J.4
Mendonca, D.5
Alonso, I.6
-
54
-
-
3543001061
-
A national DNA bank in The Gambia, West Africa, and genomic research in developing countries
-
Sirugo, G., O. Sam, O. Nyan, M. Pinder, A. V. Hill, D. Kwiatkowski, et al. 2004. A national DNA bank in The Gambia, West Africa, and genomic research in developing countries. Nat. Genet. 36:785-786.
-
(2004)
Nat. Genet
, vol.36
, pp. 785-786
-
-
Sirugo, G.1
Sam, O.2
Nyan, O.3
Pinder, M.4
Hill, A.V.5
Kwiatkowski, D.6
-
55
-
-
14044249894
-
Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: Genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden
-
Soares, M. L., T. Coelho, A. Sousa, G. Holmgren, M. J. Saraiva, D. L. Kastner, et al. 2004. Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden. Eur. J. Hum. Genet. 12:225-237.
-
(2004)
Eur. J. Hum. Genet
, vol.12
, pp. 225-237
-
-
Soares, M.L.1
Coelho, T.2
Sousa, A.3
Holmgren, G.4
Saraiva, M.J.5
Kastner, D.L.6
-
56
-
-
14044275133
-
Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: Complexity in a single-gene disease
-
Soares, M. L., T. Coelho, A. Sousa, S. Batalov, I. Conceicao, M. L. Sales-Luis, et al. 2005. Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease. Hum. Mol. Genet. 14:543-553.
-
(2005)
Hum. Mol. Genet
, vol.14
, pp. 543-553
-
-
Soares, M.L.1
Coelho, T.2
Sousa, A.3
Batalov, S.4
Conceicao, I.5
Sales-Luis, M.L.6
-
57
-
-
0002184993
-
Parental transmission and age-of-onset in familial amyloidotic polineuropathy (Portuguese type)
-
Sousa, A., T. Coelho, and J. Sequeiros. 1991. Parental transmission and age-of-onset in familial amyloidotic polineuropathy (Portuguese type). Amyloid and Amyloidosis 1990. p. 691-693.
-
(1991)
Amyloid and Amyloidosis
, vol.1990
, pp. 691-693
-
-
Sousa, A.1
Coelho, T.2
Sequeiros, J.3
-
58
-
-
1442299424
-
Transthyretin is involved in depression-like behaviour and exploratory activity
-
Sousa, J. C., C. Grandela, J. Fernandez-Ruiz, R. de Miguel, L. de Sousa, A. I. Magalhaes, et al. 2004. Transthyretin is involved in depression-like behaviour and exploratory activity. J. Neurochem. 88:1052-1058.
-
(2004)
J. Neurochem
, vol.88
, pp. 1052-1058
-
-
Sousa, J.C.1
Grandela, C.2
Fernandez-Ruiz, J.3
De Miguel, R.4
De Sousa, L.5
Magalhaes, A.I.6
-
59
-
-
78650378305
-
Ancestry informative marker panels for African Americans based on subsets of commercially available SNP arrays
-
Tandon, A., N. Patterson, and D. Reich. 2011. Ancestry informative marker panels for African Americans based on subsets of commercially available SNP arrays. Genet. Epidemiol. 35:80-83.
-
(2011)
Genet. Epidemiol
, vol.35
, pp. 80-83
-
-
Tandon, A.1
Patterson, N.2
Reich, D.3
-
60
-
-
66249116333
-
The genetic structure and history of Africans and African Americans
-
Tishkoff, S. A., F. A. Reed, F. R. Friedlaender, C. Ehret, A. Ranciaro, A. Froment, et al. 2009. The genetic structure and history of Africans and African Americans. Science 324:1035-1044.
-
(2009)
Science
, vol.324
, pp. 1035-1044
-
-
Tishkoff, S.A.1
Reed, F.A.2
Friedlaender, F.R.3
Ehret, C.4
Ranciaro, A.5
Froment, A.6
-
61
-
-
0026002955
-
Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A-
-
Vulliamy, T. J., A. Othman, M. Town, A. Nathwani, A. G. Falusi, P. J. Mason, et al. 1991. Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A-. Proc. Natl Acad. Sci. USA 88:8568-8571.
-
(1991)
Proc. Natl Acad. Sci. USA
, vol.88
, pp. 8568-8571
-
-
Vulliamy, T.J.1
Othman, A.2
Town, M.3
Nathwani, A.4
Falusi, A.G.5
Mason, P.J.6
-
62
-
-
0022004564
-
Localization of the human prealbumin gene to chromosome 18
-
Wallace, M. R., S. L. Naylor, B. Kluve-Beckerman, G. L. Long, L. McDonald, T. B. Shows, et al. 1985. Localization of the human prealbumin gene to chromosome 18. Biochem. Biophys. Res. Commun. 129:753-758.
-
(1985)
Biochem. Biophys. Res. Commun
, vol.129
, pp. 753-758
-
-
Wallace, M.R.1
Naylor, S.L.2
Kluve-Beckerman, B.3
Long, G.L.4
McDonald, L.5
Shows, T.B.6
-
63
-
-
84901020345
-
The systemic amyloid precursor transthyretin (TTR) behaves as a neuronal stress protein regulated by HSF1 in SH-SY5Y human neuroblastoma cells and APP23 Alzheimer's disease model mice
-
Wang, X., F. Cattaneo, L. Ryno, J. Hulleman, N. Reixach, and J. N. Buxbaum. 2014. The systemic amyloid precursor transthyretin (TTR) behaves as a neuronal stress protein regulated by HSF1 in SH-SY5Y human neuroblastoma cells and APP23 Alzheimer's disease model mice. J. Neurosci. 34:7253-7265.
-
(2014)
J. Neurosci
, vol.34
, pp. 7253-7265
-
-
Wang, X.1
Cattaneo, F.2
Ryno, L.3
Hulleman, J.4
Reixach, N.5
Buxbaum, J.N.6
-
64
-
-
0033854953
-
Combinations of variations in multiple genes are associated with hypertension
-
Williams, S. M., J. H. Addy, J. A. Phillips III, M. Dai, J. Kpodonu, J. Afful, et al. 2000. Combinations of variations in multiple genes are associated with hypertension. Hypertension 36:2-6.
-
(2000)
Hypertension
, vol.36
, pp. 2-6
-
-
Williams, S.M.1
Addy, J.H.2
Phillips, J.A.3
Dai, M.4
Kpodonu, J.5
Afful, J.6
-
65
-
-
0024538761
-
Haplotype analysis of familial amyloidotic polyneuropathy. Evidence for multiple origins of the Val-Met mutation most common to the disease
-
Yoshioka, K., H. Furuya, H. Sasaki, M. J. M. Saraiva, P. P. Costa, and Y. Sakaki. 1989. Haplotype analysis of familial amyloidotic polyneuropathy. Evidence for multiple origins of the Val-Met mutation most common to the disease. Hum. Genet. 82:9-13.
-
(1989)
Hum. Genet
, vol.82
, pp. 9-13
-
-
Yoshioka, K.1
Furuya, H.2
Sasaki, H.3
Saraiva, M.J.M.4
Costa, P.P.5
Sakaki, Y.6
-
66
-
-
45149083597
-
On the origin of the transthyretin Val30Met familial amyloid polyneuropathy
-
Zaros, C., E. Genin, U. Hellman, M. Saporta, L. Languille, and M. Wadington-Cruz. 2008. On the origin of the transthyretin Val30Met familial amyloid polyneuropathy. Ann. Hum. Genet. 72:478-484.
-
(2008)
Ann. Hum. Genet
, vol.72
, pp. 478-484
-
-
Zaros, C.1
Genin, E.2
Hellman, U.3
Saporta, M.4
Languille, L.5
Wadington-Cruz, M.6
-
67
-
-
0028968149
-
Migration of a novel DQA1* allele (DQA1*0502) from African origin to North and South America
-
Zimmerman, P. A., P. M. Phadke, A. Lee, L. H. Elson, E. Aruajo, R. Guderian, et al. 1995. Migration of a novel DQA1* allele (DQA1*0502) from African origin to North and South America. Hum. Immunol. 42:233-240.
-
(1995)
Hum. Immunol
, vol.42
, pp. 233-240
-
-
Zimmerman, P.A.1
Phadke, P.M.2
Lee, A.3
Elson, L.H.4
Aruajo, E.5
Guderian, R.6
|