-
1
-
-
0028013626
-
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy
-
Ashizawa T, Anvret M, Baiget M, Barceló JM, Brunner H, Cobo AM, Dallapiccola B, Fenwick RG Jr, Grandell U, Harley H, Junien C, Koch MC, Korneluk RG, Lavedan C, Miki T, Mulley JC, López de Munain A, Novelli G, Roses AD, Seltzer WK, Shaw DJ, Smeets H, Sutherland GR, Yamagata H, Harper PS. 1994. Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet 54:414-423.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 414-423
-
-
Ashizawa, T.1
Anvret, M.2
Baiget, M.3
Barceló, J.M.4
Brunner, H.5
Cobo, A.M.6
Dallapiccola, B.7
Fenwick R.G., Jr.8
Grandell, U.9
Harley, H.10
Junien, C.11
Koch, M.C.12
Korneluk, R.G.13
Lavedan, C.14
Miki, T.15
Mulley, J.C.16
López De Munain, A.17
Novelli, G.18
Roses, A.D.19
Seltzer, W.K.20
Shaw, D.J.21
Smeets, H.22
Sutherland, G.R.23
Yamagata, H.24
Harper, P.S.25
more..
-
3
-
-
0032539993
-
Forskolin-induced dephosphorylation of the androgen receptor impairs ligand binding
-
Blok LJ, de Ruiter PE, Brinkmann AO. 1998. Forskolin-induced dephosphorylation of the androgen receptor impairs ligand binding. Biochemistry 37:3850-3857.
-
(1998)
Biochemistry
, vol.37
, pp. 3850-3857
-
-
Blok, L.J.1
De Ruiter, P.E.2
Brinkmann, A.O.3
-
4
-
-
0029152126
-
Androgen receptor mutations
-
Brinkmann AO, Jenster G, Ris-Stalpers C, van der Korput JAGM, Brüggenwirth HT, Boehmer ALM, Trapman J. 1995. Androgen receptor mutations. J Steroid Biochem Mol Biol 53:443-448.
-
(1995)
J Steroid Biochem Mol Biol
, vol.53
, pp. 443-448
-
-
Brinkmann, A.O.1
Jenster, G.2
Ris-Stalpers, C.3
Van Der Korput, J.A.G.M.4
Brüggenwirth, H.T.5
Boehmer, A.L.M.6
Trapman, J.7
-
5
-
-
0031054554
-
Androgen insensitivity with mental retardation: A contiguous gene syndrome?
-
Davies HR, Hughes IA, Savage MO, Quigley CA, Trifiro M, Pinsky L, Brown TR, Patterson MN. 1997. Androgen insensitivity with mental retardation: A contiguous gene syndrome? J Med Genet 34:158-160.
-
(1997)
J Med Genet
, vol.34
, pp. 158-160
-
-
Davies, H.R.1
Hughes, I.A.2
Savage, M.O.3
Quigley, C.A.4
Trifiro, M.5
Pinsky, L.6
Brown, T.R.7
Patterson, M.N.8
-
6
-
-
0028873249
-
Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients
-
de Graaff E, Rouillard P, Willems PJ, Smits APT, Rousseau F, Oostra BA. 1995. Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients. Hum Mol Genet 4:45-49.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 45-49
-
-
De Graaff, E.1
Rouillard, P.2
Willems, P.J.3
Smits, A.P.T.4
Rousseau, F.5
Oostra, B.A.6
-
7
-
-
0026551039
-
Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups
-
Edwards A, Hammond HA, Jin L, Caskey CT, Chakraborty R. 1992. Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics 12:241-253.
-
(1992)
Genomics
, vol.12
, pp. 241-253
-
-
Edwards, A.1
Hammond, H.A.2
Jin, L.3
Caskey, C.T.4
Chakraborty, R.5
-
9
-
-
0023470783
-
X-linked mental retardation with marfanoid habitus
-
Fryns J-P, Buttiens M. 1987. X-linked mental retardation with marfanoid habitus. Am J Med Genet 28:267-274.
-
(1987)
Am J Med Genet
, vol.28
, pp. 267-274
-
-
Fryns, J.-P.1
Buttiens, M.2
-
10
-
-
0028939603
-
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with a-thalassemia (ATR-X syndrome)
-
Gibbons RJ, Picketts DJ, Villard L, Higgs DR. 1995. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with a-thalassemia (ATR-X syndrome). Cell 80:837-845.
-
(1995)
Cell
, vol.80
, pp. 837-845
-
-
Gibbons, R.J.1
Picketts, D.J.2
Villard, L.3
Higgs, D.R.4
-
12
-
-
0029848386
-
Androgen receptor CAG repeat lengths in prostate cancer: Correlation with age of onset
-
Hardy DO, Scher HI, Bogenreider T, Sabbatini P, Zhang Z-F, Nanus DM, Catterall JF. 1996. Androgen receptor CAG repeat lengths in prostate cancer: Correlation with age of onset. J Clin Endocrinol Metab 81: 4400-4405.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 4400-4405
-
-
Hardy, D.O.1
Scher, H.I.2
Bogenreider, T.3
Sabbatini, P.4
Zhang, Z.-F.5
Nanus, D.M.6
Catterall, J.F.7
-
13
-
-
0028131754
-
Changes in abundance of androgen receptor isotypes: Effects of ligand treatment, glutamine-strech variation, and mutation of putative phosphorylation sites
-
Jenster G, de Ruiter PE, van der Korput HAGM, Kuiper GGJM, Trapman J, Brinkmann AO. 1994. Changes in abundance of androgen receptor isotypes: Effects of ligand treatment, glutamine-strech variation, and mutation of putative phosphorylation sites. Biochemistry 33:14064-14072.
-
(1994)
Biochemistry
, vol.33
, pp. 14064-14072
-
-
Jenster, G.1
De Ruiter, P.E.2
Van Der Korput, H.A.G.M.3
Kuiper, G.G.J.M.4
Trapman, J.5
Brinkmann, A.O.6
-
14
-
-
0002560053
-
Molecular detection of dynamic mutations
-
Adolph KW, editor. Boca Raton, Florida: CRC Press
-
Kooy RF, Oostra BA, Willems PJ. 1997. Molecular detection of dynamic mutations. In: Adolph KW, editor. Human genome methods. Boca Raton, Florida: CRC Press, p 23-53.
-
(1997)
Human Genome Methods
, pp. 23-53
-
-
Kooy, R.F.1
Oostra, B.A.2
Willems, P.J.3
-
15
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. 1991. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352:77-79.
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
16
-
-
0029890398
-
XLMR genes: Update 1996
-
Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G. 1996. XLMR genes: Update 1996. Am J Med Genet 64:147-157.
-
(1996)
Am J Med Genet
, vol.64
, pp. 147-157
-
-
Lubs, H.A.1
Chiurazzi, P.2
Arena, J.F.3
Schwartz, C.4
Tranebjaerg, L.5
Neri, G.6
-
17
-
-
0021357699
-
A form of X-linked mental retardation with marfanoid habitus
-
Lujan JE, Carlin ME, Lubs HA. 1984. A form of X-linked mental retardation with marfanoid habitus. Am J Med Genet 17:311-322.
-
(1984)
Am J Med Genet
, vol.17
, pp. 311-322
-
-
Lujan, J.E.1
Carlin, M.E.2
Lubs, H.A.3
-
18
-
-
0027495378
-
Sequence variation in the androgen receptor gene is not a common determinant of male sexual orientation
-
Macke JP, Hu N, Hu S, Bailey M, King VL, Brown T, Hamer D, Nathans J. 1993. Sequence variation in the androgen receptor gene is not a common determinant of male sexual orientation. Am J Hum Genet 53:844-852.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 844-852
-
-
Macke, J.P.1
Hu, N.2
Hu, S.3
Bailey, M.4
King, V.L.5
Brown, T.6
Hamer, D.7
Nathans, J.8
-
20
-
-
10144259358
-
Founder effect in spinal and bulbar muscular atrophy (SBMA)
-
Tanaka F, Doyu M, Ito Y, Matsumoto M, Mitsuma T, Abe K, Aoki M, Itoyama Y, Fischbeck KH, Sobue G. 1996. Founder effect in spinal and bulbar muscular atrophy (SBMA). Hum Mol Genet 5:1253-1257.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1253-1257
-
-
Tanaka, F.1
Doyu, M.2
Ito, Y.3
Matsumoto, M.4
Mitsuma, T.5
Abe, K.6
Aoki, M.7
Itoyama, Y.8
Fischbeck, K.H.9
Sobue, G.10
-
21
-
-
0030993634
-
Estrogen stakes claim to cognition
-
Wickelgren I. 1997. Estrogen stakes claim to cognition. Science 276:675-678.
-
(1997)
Science
, vol.276
, pp. 675-678
-
-
Wickelgren, I.1
-
22
-
-
0028925739
-
CAG repeat length variation in sperm from a patient with Kennedy's disease
-
Zhang L, Fischbeck KH, Arnheim N. 1995. CAG repeat length variation in sperm from a patient with Kennedy's disease. Hum Mol Genet 4:303-305.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 303-305
-
-
Zhang, L.1
Fischbeck, K.H.2
Arnheim, N.3
-
23
-
-
0027982427
-
Studying human mutations by sperm typing: Instability of CAG trinucleotide repeats in the human androgen receptor gene
-
Zhang L, Leeflang EP, Yu J, Arnheim N. 1994. Studying human mutations by sperm typing: Instability of CAG trinucleotide repeats in the human androgen receptor gene. Nat Genet 7:531-535.
-
(1994)
Nat Genet
, vol.7
, pp. 531-535
-
-
Zhang, L.1
Leeflang, E.P.2
Yu, J.3
Arnheim, N.4
|