-
1
-
-
12244266688
-
Ancestral differences in the distribution of the 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: Insights into the genetic evolution of Huntington's disease
-
(1995)
Hum Mol Genet
, vol.4
, pp. 207-214
-
-
Almqvist, E.1
Spence, N.2
Nichol, K.3
Andrew, S.E.4
Vesa, J.5
Peltonen, L.6
Anvret, M.7
Goto, J.8
Kanazawa, I.9
Goldberg, Y.P.10
Hayden, M.R.11
-
2
-
-
0032065590
-
Laboratory guidelines for Huntington disease genetic testing
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1243-1247
-
-
-
6
-
-
0042115272
-
Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: Evidence from single sperm analyses
-
(1997)
Hum Molec Genet
, vol.6
, pp. 301-309
-
-
Chong, S.S.1
Almqvist, E.2
Telenius, H.3
LaTray, L.4
Nichol, K.5
Bourdelat-Parks, B.6
Goldberg, Y.P.7
Haddad, B.R.8
Richards, F.9
Sillence, D.10
Greenberg, C.R.11
Ives, E.12
Van den Engh, G.13
Hughes, M.R.14
Hayden, M.R.15
-
8
-
-
0027482789
-
Familial predisposition to recurrent mutations causing Huntington's disease: Genetic risk to sibs of sporadic cases
-
(1993)
J Med Genet
, vol.30
, pp. 987-990
-
-
Goldberg, Y.P.1
Andrew, S.E.2
Theilmann, J.3
Kremer, B.4
Squitieri, F.5
Telenius, H.6
Brown, J.D.7
Hayden, M.R.8
-
9
-
-
0027359989
-
Molecular analysis of new mutations for Huntington's disease: Intermediate alleles and sex of origin effects
-
(1993)
Nat Genet
, vol.5
, pp. 174-179
-
-
Goldberg, Y.P.1
Kremer, B.2
Andrew, S.E.3
Theilmann, J.4
Graham, R.K.5
Squitieri, F.6
Telenius, H.7
Adam, S.8
Sajoo, A.9
Starr, E.10
Heiberg, A.11
Wolff, G.12
Hayden, M.R.13
-
10
-
-
0028882509
-
Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1911-1918
-
-
Goldberg, Y.P.1
McMurray, C.T.2
Zeisler, J.3
Almqvist, E.4
Sillence, D.5
Richards, F.6
Gacy, A.M.7
Buchanan, J.8
Telenius, H.9
Hayden, M.R.10
-
12
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded in Huntington's disease chromosomes
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
13
-
-
0028470671
-
Guidelines for the molecular genetics predictive test in Huntington disease
-
(1994)
J Med Genet
, vol.31
, pp. 555-559
-
-
-
14
-
-
0028316870
-
A worldwide study of the Huntington's disease mutation: The sensitivity and specificity of measuring CAG repeats
-
(1994)
N Engl J Med
, vol.330
, pp. 1401-1406
-
-
Kremer, B.1
Goldberg, Y.P.2
Andrew, S.E.3
Theilmann, J.4
Telenius, H.5
Zeisler, J.6
Squitieri, F.7
Lin, B.8
Bassett, A.9
Almqvist, E.10
Bird, T.P.11
Hayden, M.R.12
-
16
-
-
0029084074
-
Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: Quantification of the mutation frequency spectrum
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1519-1526
-
-
Leeflang, E.P.1
Zhang, L.2
Tavare, S.3
Hubert, R.4
Srinidhi, J.5
MacDonald, M.E.6
Myers, R.H.7
De Young, M.8
Wexler, N.S.9
Gusella, J.F.10
Arnheim, N.11
-
17
-
-
0028226681
-
Limited expansion of the (CAG)n repeat of the Huntington gene: A premutation?
-
(1994)
Eur J Hum Genet
, vol.2
, pp. 44-50
-
-
Legius, E.1
Cuppens, H.2
Dierick, H.3
Van Zandt, K.4
Dom, R.5
Frijns, J.P.6
Evers-Kieboom, G.7
Decruyenaere, M.8
Demyttenaere, K.9
Marynen, P.10
Cassiman, J.-J.11
-
19
-
-
0026864956
-
The Huntington's disease candidate region exhibits many different haplotypes
-
(1992)
Nat Genet
, vol.1
, pp. 99-103
-
-
MacDonald, M.E.1
Noveletto, A.2
Lin, C.3
Tagle, D.4
Barnes, G.5
Bates, G.6
Taylor, S.7
Allitto, B.8
Altherr, M.9
Myers, R.10
Lehrach, H.11
Collins, F.S.12
Wasmuth, J.J.13
Frontali, M.14
Gusella, J.F.15
-
21
-
-
8244246428
-
Reduced penetrance of the Huntington's disease mutation
-
(1997)
Hum Mol Genet
, vol.6
, pp. 775-779
-
-
McNeil, S.M.1
Novelletto, A.2
Srinidhi, J.3
Barnes, G.4
Kornbluth, I.5
Altherr, M.R.6
Wasmuth, J.J.7
Gusella, J.F.8
MacDonald, M.E.9
Myers, R.H.10
-
23
-
-
0027435939
-
De novo expansion of a (CAG)n repeat in sporadic Huntington's disease
-
(1993)
Nat Genet
, vol.5
, pp. 168-173
-
-
Myers, R.H.1
MacDonald, M.E.2
Koroshetz, W.J.3
Duyao, M.P.4
Ambrose, C.M.5
Taylor, S.A.6
Barnes, G.7
Srinidhi, J.8
Lin, C.S.9
Whaley, W.L.10
Lazzarini, A.M.11
Schwarz, M.12
Wolff, G.13
Bird, E.D.14
Vonsattel, J.-P.G.15
Gusella, J.F.16
-
26
-
-
0027982426
-
Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence
-
(1994)
Nat 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
-
27
-
-
0029997090
-
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease gene reveals Huntington disease cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats
-
(1996)
Am J Hum Genet
, vol.59
, pp. 16-22
-
-
Rubinsztein, D.C.1
Leggo, J.2
Coles, R.3
Almqvist, E.4
Biancalana, V.5
Cassiman, J.J.6
Chotai, K.7
Connarty, M.8
Craufurd, D.9
Curtis, A.10
Curtis, D.11
Davidson, M.J.12
Differ, A.M.13
Dode, C.14
Dodge, A.15
Frontali, M.16
Ranen, N.G.17
Stine, O.C.18
Sherr, M.19
Abbott, M.H.20
Franz, M.C.21
Graham, C.A.22
Harper, P.S.23
Hedreen, J.C.24
Jackson, A.25
Kaplan, J.C.26
Losekoot, M.27
MacMillan, J.C.28
Morrison, P.29
Trottier, Y.30
Noveletto, A.31
Simpson, S.A.32
Theilmann, J.33
Whittaker, J.L.34
Folstein, S.E.35
Ross, C.A.36
Hayden, M.R.37
more..
-
30
-
-
0021961665
-
Further segregation analysis of the fragile X syndrome with special reference to transmitting males
-
(1985)
Hum Genet
, vol.69
, pp. 289-299
-
-
Sherman, S.L.1
Jacobs, P.A.2
Morton, N.E.3
Froster-Iskenius, U.4
Howard-Peebles, P.N.5
Nielsen, K.6
Partington, M.W.7
Sutherland, G.R.8
Turner, G.9
Watson, M.10
-
31
-
-
0027411739
-
The fragile X syndrome: No evidence for any recent mutations
-
(1993)
J Med Genet
, vol.30
, pp. 94-96
-
-
Smits, A.P.T.1
Dreessen, J.C.F.M.2
Post, J.G.3
Smeets, D.F.C.M.4
De Die-Smulders, C.5
Spaans-van der Bij, I.T.6
Govaerts, L.C.P.7
Warren, S.T.8
Oostra, B.A.9
Van Oost, B.A.10
-
32
-
-
0028564730
-
DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2103-2114
-
-
Squitieri, F.1
Andrew, S.E.2
Goldberg, Y.P.3
Kremer, B.4
Spence, N.5
Zeisier, J.6
Nichoi, K.7
Theilmann, J.8
Greenberg, J.9
Goto, J.10
Kanazawa, I.11
Vesa, J.12
Peltonen, L.13
Almqvist, E.14
Anvret, M.15
Telenius, H.16
Lin, B.17
Napolitano, G.18
Morgan, K.19
Hayden, M.R.20
more..
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