-
1
-
-
0025866192
-
Ethnic Distribution of myotonic dystrophy gene
-
ASHIZAWA, T., EPSTEIN, H. F. (1991) Ethnic Distribution of myotonic dystrophy gene. Lancet. 338, 642-643.
-
(1991)
Lancet
, vol.338
, pp. 642-643
-
-
Ashizawa, T.1
Epstein, H.F.2
-
2
-
-
0026567370
-
Cloning of the essential myotonic dystrophy region and mapping of the putative defect
-
ASLANIDIS, C., JANSEN, G., AMEMIYA, C., SHUTLER, G., MAHADEVAN, M., TSILFIDIS, C., CHEN, C., ALLEMAN, J., WORMSKAMP, N. G. M., VOOIJS, M., BUXTON, J., JOHNSON, K., SMEETS, H. J M., LENNON, G. G., CARRANO, A. V., KORNELUK R. G., WIERINGA, B., DE JONG, P. J. (1992). Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature. 355, 548-551.
-
(1992)
Nature
, vol.355
, pp. 548-551
-
-
Aslanidis, C.1
Jansen, G.2
Amemiya, C.3
Shutler, G.4
Mahadevan, M.5
Tsilfidis, C.6
Chen, C.7
Alleman, J.8
Wormskamp, N.G.M.9
Vooijs, M.10
Buxton, J.11
Johnson, K.12
Smeets, H.J.M.13
Lennon, G.G.14
Carrano, A.V.15
Korneluk, R.G.16
Wieringa, B.17
De Jong, P.J.18
-
3
-
-
0028184174
-
High resolution of human evolutionary trees with polymorphic microsatellites
-
BOWCOCK, A.M., RUIZ-LINARES, A., TOMFOHRDE, J., MINCH, E., KIDD, J. R., CAVALLI-SFORZA, L. L. (1994) High resolution of human evolutionary trees with polymorphic microsatellites. Nature 368, 455-457.
-
(1994)
Nature
, vol.368
, pp. 455-457
-
-
Bowcock, A.M.1
Ruiz-Linares, A.2
Tomfohrde, J.3
Minch, E.4
Kidd, J.R.5
Cavalli-Sforza, L.L.6
-
4
-
-
0026566108
-
Molecular Basis of Myotonic Dystrophy: Expansion of a Trinucleotide (CTG) Repeat at the 3′ End of a Transcript Encoding a Protein Family Member
-
BROOK, J. D., MCCURRACH, M. E., HARLEY, H. G., BUCKLER, A. J., CHURCH, D., ABURTANI, H., HUNTER, K., STANTON, V. P., THIRION, J-P., HUDSON, T., SOHN, R., ZEMELMAN, B., SNELL, R., RUNDLE, S. A., CROW, S., DAVIES, J., SHELBOURNE, P., BUXTON, J., JONES, C., JUVONEN, V., JOHNSON, K., HARPER, P. S., SHAW, D., HOUSMAN, D. E. (1992). Molecular Basis of Myotonic Dystrophy: Expansion of a Trinucleotide (CTG) Repeat at the 3′ End of a Transcript Encoding a Protein Family Member. Cell 68, 799-808.
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
Mccurrach, M.E.2
Harley, H.G.3
Buckler, A.J.4
Church, D.5
Aburtani, H.6
Hunter, K.7
Stanton, V.P.8
Thirion, J.-P.9
Hudson, T.10
Sohn, R.11
Zemelman, B.12
Snell, R.13
Rundle, S.A.14
Crow, S.15
Davies, J.16
Shelbourne, P.17
Buxton, J.18
Jones, C.19
Juvonen, V.20
Johnson, K.21
Harper, P.S.22
Shaw, D.23
Housman, D.E.24
more..
-
5
-
-
0026584805
-
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
-
BUXTON, J., SHELBOURNE, P., DAVIES, J., JONES, C., VAN TONGEREN, T., ASLANIDIS, C., DE JONG, P., JANSEN G, ANVERT, M., RILEY, B., WILLIAMSON, R., JOHNSON, J. (1992). Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature. 355, 547-548.
-
(1992)
Nature
, vol.355
, pp. 547-548
-
-
Buxton, J.1
Shelbourne, P.2
Davies, J.3
Jones, C.4
Van Tongeren, T.5
Aslanidis, C.6
De Jong, P.7
Jansen, G.8
Anvert, M.9
Riley, B.10
Williamson, R.11
Johnson, J.12
-
6
-
-
0023163377
-
Mitochondrial DNA and Human Evolution
-
CANN, R. L., STONEKING, M., WILSON, A. C. (1987). Mitochondrial DNA and Human Evolution. Nature. 325, 31-36.
-
(1987)
Nature
, vol.325
, pp. 31-36
-
-
Cann, R.L.1
Stoneking, M.2
Wilson, A.C.3
-
7
-
-
0026596610
-
Triplet Repeat Mutations in Human Disease
-
CASKEY, C. T., PIZZUTI, A., FU, Y-H, FENWICK JR, R. G., NELSON, D. L. (1992). Triplet Repeat Mutations in Human Disease Science. 256, 784-788.
-
(1992)
Science
, vol.256
, pp. 784-788
-
-
Caskey, C.T.1
Pizzuti, A.2
Fu, Y.-H.3
Fenwick Jr., R.G.4
Nelson, D.L.5
-
8
-
-
0026450773
-
Comparison of the Myotonic Dystrophy Associated CTG Repeat in European and Japanese Populations
-
DAVIES, J. D., YAMAGATA, H., SHELBOURNE, P., BUXTON, J., OGIHARA, T., NOKELAINEN, P., NAKAGAWA, M., WILLIAMSON, R., JOHNSON, K., MIKI, T. (1992). Comparison of the Myotonic Dystrophy Associated CTG Repeat in European and Japanese Populations. J Med Genet. 29, 766-9.
-
(1992)
J Med Genet.
, vol.29
, pp. 766-769
-
-
Davies, J.D.1
Yamagata, H.2
Shelbourne, P.3
Buxton, J.4
Ogihara, T.5
Nokelainen, P.6
Nakagawa, M.7
Williamson, R.8
Johnson, K.9
Miki, T.10
-
9
-
-
85179283670
-
The first spread of food production to southern Africa
-
Berkeley: University of California Press. Ed. C Ehret and M Posnansky
-
EHRET, C (1982a). The first spread of food production to southern Africa. In The Archeological and Linguistic Reconstruction of African History, pp. 158-181. Berkeley: University of California Press. Ed. C Ehret and M Posnansky.
-
(1982)
The Archeological and Linguistic Reconstruction of African History
, pp. 158-181
-
-
Ehret, C.1
-
10
-
-
85179297740
-
Linguistic inferences about early Bantu history
-
Berkeley: University of California Press. Ed. C Ehret and M Posnansky
-
EHRET, C. (1982b). Linguistic inferences about early Bantu history. In The Archeological and Linguistic Reconstruction of African History, pp. 57-65. Berkeley: University of California Press. Ed. C Ehret and M Posnansky.
-
(1982)
The Archeological and Linguistic Reconstruction of African History
, pp. 57-65
-
-
Ehret, C.1
-
11
-
-
0026598119
-
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
-
FU, Y. H., PIZZUTI, A., FENWICK, R. J. JR, KING, J., RAJNABAYAN, S., DUNNE, P. W., DUBEL, J., NASSER, G. G., ASHIZAWA, T., DE JONG, P., WIERINGA, B., KORNELUK, R., PERRYMAN, M. B., EPSTEIN, H. F., CASKEY, C. T. (1992). An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. 255, 1256-1258.
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.H.1
Pizzuti, A.2
Fenwick Jr., R.J.3
King, J.4
Rajnabayan, S.5
Dunne, P.W.6
Dubel, J.7
Nasser, G.G.8
Ashizawa, T.9
De Jong, P.10
Wieringa, B.11
Korneluk, R.12
Perryman, M.B.13
Epstein, H.F.14
Caskey, C.T.15
-
12
-
-
0027958086
-
Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats
-
GOLDMAN, A., RAMSAY, M., JENKINS, T. (1994) Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats. J Med Genet. 31, 101-104.
-
(1994)
J Med Genet.
, vol.31
, pp. 101-104
-
-
Goldman, A.1
Ramsay, M.2
Jenkins, T.3
-
13
-
-
0029614798
-
Molecular analysis of the CTG trinucleotide repeat in South African myotonic dystrophy families: Implications for diagnosis and counselling
-
in press
-
GOLDMAN, A., RAMSAY, M., JENKINS, T. (1995a). Molecular analysis of the CTG trinucleotide repeat in South African myotonic dystrophy families: Implications for diagnosis and counselling. S Afr Med J. in press.
-
(1995)
S Afr Med J
-
-
Goldman, A.1
Ramsay, M.2
Jenkins, T.3
-
14
-
-
0029038408
-
New founder haplotypes at the myotonic dystrophy locus in southern Africa
-
GOLDMAN, A., RAMSAY, M., JENKINS, T. (1995b) New founder haplotypes at the myotonic dystrophy locus in southern Africa. Am J Hum Genet. 56, 1373-1378.
-
(1995)
Am J Hum Genet.
, vol.56
, pp. 1373-1378
-
-
Goldman, A.1
Ramsay, M.2
Jenkins, T.3
-
15
-
-
0026070453
-
Genetic linkage between Huntington disease and the D4510 locus in South African families: Further evidence against non-allelic heterogeneity
-
GREENBERG, L. J., MARTELL, R. W., THEILMAN, J., HAYDEN, M. R., JOUBERT, J. (1991). Genetic linkage between Huntington disease and the D4510 locus in South African families: further evidence against non-allelic heterogeneity. Human Genetics. 87, 701-708.
-
(1991)
Human Genetics
, vol.87
, pp. 701-708
-
-
Greenberg, L.J.1
Martell, R.W.2
Theilman, J.3
Hayden, M.R.4
Joubert, J.5
-
16
-
-
0026601924
-
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
-
HARLEY, H. G., BROOK, J. D., RUNDLE, S. A., CROW, S., REARDON, W., BUCKLER, A. J., HARPER, P. S., HOUSMAN, D. E., SHAW, D. J. (1992) Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature. 355, 545-546.
-
(1992)
Nature
, vol.355
, pp. 545-546
-
-
Harley, H.G.1
Brook, J.D.2
Rundle, S.A.3
Crow, S.4
Reardon, W.5
Buckler, A.J.6
Harper, P.S.7
Housman, D.E.8
Shaw, D.J.9
-
19
-
-
0027480960
-
A Novel gene Containing a Trinucleotide Repeat That is Expanded and Unstable on Huntington's Disease Chromosomes
-
HUNTINGTON'S DISEASE COLLABORATIVE RESEARCH GROUP. (1993). A Novel gene Containing a Trinucleotide Repeat That is Expanded and Unstable on Huntington's Disease Chromosomes. Cell. 72, 971-983.
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
20
-
-
0026462708
-
Inheritance of the fragile X syndrome : Size of the premutation is a major determinant of the transition to full mutation
-
HEITZ, D., DEVYS, D., IMBERT, G., KRETZ, C., MANDEL, J-L. (1992). Inheritance of the fragile X syndrome : size of the premutation is a major determinant of the transition to full mutation. J Med Genet. 29, 794-801.
-
(1992)
J Med Genet.
, vol.29
, pp. 794-801
-
-
Heitz, D.1
Devys, D.2
Imbert, G.3
Kretz, C.4
Mandel, J.-L.5
-
21
-
-
0026457624
-
The correlation of onset with CTG trinucleotide repeat amplification in myotonic dystrophy
-
HUNTER, A., TSILFIDIS, C., METTLER, G., JACOBS, P., MAHADEVAN, M., SURH, L., KORNELUK, R. (1992). The correlation of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. J Med Genet. 29, 774-779.
-
(1992)
J Med Genet.
, vol.29
, pp. 774-779
-
-
Hunter, A.1
Tsilfidis, C.2
Mettler, G.3
Jacobs, P.4
Mahadevan, M.5
Surh, L.6
Korneluk, R.7
-
22
-
-
0027251874
-
Origin of the expansion mutation in myotonic dystrophy
-
IMBERT, G., KRETZ, C., JOHNSON, K., MANDEL, J-L. (1993). Origin of the expansion mutation in myotonic dystrophy. Nature Genet. 4, 72-76.
-
(1993)
Nature Genet.
, vol.4
, pp. 72-76
-
-
Imbert, G.1
Kretz, C.2
Johnson, K.3
Mandel, J.-L.4
-
23
-
-
0011640325
-
The prehistory of the San and Khoikhoi as recorded in their blood
-
Ed: R. Vossen and K. Keuthmann Hamburg: Helmut Buske Verlag
-
JENKINS, T. (1986). The prehistory of the San and Khoikhoi as recorded in their blood. In: Contempory Studies on Khoisan 2. (Ed: R. Vossen and K. Keuthmann) pp 51-77. Hamburg: Helmut Buske Verlag.
-
(1986)
Contempory Studies on Khoisan 2
, pp. 51-77
-
-
Jenkins, T.1
-
24
-
-
0022362681
-
Myotonic Dystrophy Part I. A genealogical study in the northern Transvaal
-
LOTZ, B. P., VAN DEK MEYDEN, C. H. (1985a). Myotonic Dystrophy Part I. A genealogical study in the northern Transvaal. S Afr Med J. 67, 812-814.
-
(1985)
S Afr Med J.
, vol.67
, pp. 812-814
-
-
Lotz, B.P.1
Van Dek Meyden, C.H.2
-
25
-
-
9044227359
-
Myotonic Dystrophy Part II. A genealogical study in the northern Transvaal
-
LOTZ, B. P., VAN DER MEYDEN, C. H. (1985b). Myotonic Dystrophy Part II. A genealogical study in the northern Transvaal. S Afr Med J 67, 814-816.
-
(1985)
S Afr Med J
, vol.67
, pp. 814-816
-
-
Lotz, B.P.1
Van Der Meyden, C.H.2
-
26
-
-
0026603841
-
Myotonic Dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
-
MAHADEVAN, M., TSILFIDIS, C., SABOURIN, L., SHUTLER, G., AMEMIYA, C., JANSEN, G., NEVILLE, C., et al. (1992). Myotonic Dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene Science 255, 1253-1255.
-
(1992)
Science
, vol.255
, pp. 1253-1255
-
-
Mahadevan, M.1
Tsilfidis, C.2
Sabourin, L.3
Shutler, G.4
Amemiya, C.5
Jansen, G.6
Neville, C.7
-
27
-
-
0026340064
-
The structure of human mitochondrial DNA variation
-
MERRIWETHER, D. A., CLARK, A. G., BALLINGER, S. W., SCHURR, T. G., SOODYALL, H., JENKINS, T., SHERRY, S T. et al et al. (1991). The structure of human mitochondrial DNA variation. J. Mol. Evol. 133, 543-555.
-
(1991)
J. Mol. Evol.
, vol.133
, pp. 543-555
-
-
Merriwether, D.A.1
Clark, A.G.2
Ballinger, S.W.3
Schurr, T.G.4
Soodyall, H.5
Jenkins, T.6
Sherry, S.T.7
-
28
-
-
0024284028
-
A simple salting-out procedure for extracting DNA from human nucleated cells
-
MILLER, S. A., DYK, D. D., PELESKY, H. F. (1988). A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research. 16, 1215.
-
(1988)
Nucleic Acids Research
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dyk, D.D.2
Pelesky, H.F.3
-
29
-
-
0028240475
-
Triplet repeats strike again
-
MIWA, S. (1994). Triplet repeats strike again. Nature Genet. 6, 3-4.
-
(1994)
Nature Genet.
, vol.6
, pp. 3-4
-
-
Miwa, S.1
-
30
-
-
9044221091
-
Molecular support to North Eurasian origin of the myotonic dystrophy mutation
-
Abstract
-
NOVELLI, G., GENNARELLI, M., SPEDINI, G., DESTRO-BISOL, G., DALLAPICCOLA, B. (1993). Molecular support to North Eurasian origin of the myotonic dystrophy mutation. Am J Human Genet. Abstract.
-
(1993)
Am J Human Genet.
-
-
Novelli, G.1
Gennarelli, M.2
Spedini, G.3
Destro-Bisol, G.4
Dallapiccola, B.5
-
31
-
-
0004220743
-
-
Clarendon Press, Oxford
-
NURSE, G. T., WEINER, J. S., JENKINS, T. (1985). The peoples of southern Africa and their affinities. Clarendon Press, Oxford.
-
(1985)
The Peoples of Southern Africa and Their Affinities
-
-
Nurse, G.T.1
Weiner, J.S.2
Jenkins, T.3
-
32
-
-
0002374718
-
Neurological Disorders in Nigeria
-
Chapter 16. Ed. JD Spillane. Oxford Press
-
OSUNTOKUN, B. O Neurological Disorders in Nigeria. (1973). In: Tropical Neurology. Chapter 16. Ed. JD Spillane. Oxford Press.
-
(1973)
Tropical Neurology
-
-
Osuntokun, B.O.1
-
33
-
-
0026767610
-
Dynamic mutations: A new class of mutations causing human disease
-
RICHARDS, R. I., SUTHERLAND, G. R. (1992). Dynamic mutations: a new class of mutations causing human disease. Cell. 70, 709-712.
-
(1992)
Cell
, vol.70
, pp. 709-712
-
-
Richards, R.I.1
Sutherland, G.R.2
-
34
-
-
0027982426
-
Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence
-
RUBINSZTEIN, D. C., AMOS, W., LEGGO, J., GOODBURN, S., RAMESAR, R. S., OLD, J., BONTROP, R., MCMAHON, R., BARTON, D. E., FERGUSON-SMITH, M. A. (1994a). Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. Nature Genet. 7, 525-530.
-
(1994)
Nature Genet.
, vol.7
, pp. 525-530
-
-
Rubinsztein, D.C.1
Amos, W.2
Leggo, J.3
Goodburn, S.4
Ramesar, R.S.5
Old, J.6
Bontrop, R.7
Mcmahon, R.8
Barton, D.E.9
Ferguson-Smith, M.A.10
-
35
-
-
0028072993
-
Myotonic dystrophy CTG repeats and the asociated insertion/ deletion polymorphism in human and primate populations
-
RUBINSZTEIN, D. C., LEGGO, J., AMOS, W., BARTON, D. E., FERGUSON-SMITH, M. A. (1994b). Myotonic dystrophy CTG repeats and the asociated insertion/ deletion polymorphism in human and primate populations. Hum Molec Genet 3, 2031-2035.
-
(1994)
Hum Molec Genet
, vol.3
, pp. 2031-2035
-
-
Rubinsztein, D.C.1
Leggo, J.2
Amos, W.3
Barton, D.E.4
Ferguson-Smith, M.A.5
-
36
-
-
0026612983
-
Huntington Disease in black African populations
-
SCRIMGEOUR, E. M., SIMPSON, S. A. (1992). Huntington Disease in black African populations. Human Genetics. 90, 186-187.
-
(1992)
Human Genetics
, vol.90
, pp. 186-187
-
-
Scrimgeour, E.M.1
Simpson, S.A.2
-
37
-
-
0026939635
-
Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype
-
SHELBOURNE, P., WINQVIST, R., KUNERT, E., DAVIES, J., LEISTI, J., THIELE, H., BACHMANN, H., BUXTON, J., WILLIAMSON, R., JOHNSON, K. (1992). Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype. Hum Mol Genet. 1, 467-473.
-
(1992)
Hum Mol Genet.
, vol.1
, pp. 467-473
-
-
Shelbourne, P.1
Winqvist, R.2
Kunert, E.3
Davies, J.4
Leisti, J.5
Thiele, H.6
Bachmann, H.7
Buxton, J.8
Williamson, R.9
Johnson, K.10
-
38
-
-
0020841311
-
DNA in heritable disease
-
SYKES, B. G. (1983). DNA in heritable disease. Lancet. ii, 787-788
-
(1983)
Lancet
, vol.2
, pp. 787-788
-
-
Sykes, B.G.1
-
39
-
-
0026046333
-
African populations and the evolution of Human Mitochondrial DNA
-
VIGILANT, L., STONEKING, M., HARPENDING, H., HAWKES, K., WILSON, A.C. (1991). African populations and the evolution of Human Mitochondrial DNA. Science 253, 1503-1507.
-
(1991)
Science
, vol.253
, pp. 1503-1507
-
-
Vigilant, L.1
Stoneking, M.2
Harpending, H.3
Hawkes, K.4
Wilson, A.C.5
|