-
1
-
-
0026678490
-
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
-
Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW (1992): Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1229-1239
-
-
Allen, R.C.1
Zoghbi, H.Y.2
Moseley, A.B.3
Rosenblatt, H.M.4
Belmont, J.W.5
-
2
-
-
0026566108
-
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
-
Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, Sohn R, Zemelman B, Snell RG, Rundle SA, Crow S, Davies J, Shelbourne P, Buxton J, Jones C, Juvonen V, Johnson K, Harper PS, Shaw DJ, Housman DE (1992): Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase 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
Aburatani, H.6
Hunter, K.7
Stanton, V.P.8
Thirion, J.P.9
Hudson, T.10
Sohn, R.11
Zemelman, B.12
Snell, R.G.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.J.23
Housman, D.E.24
more..
-
3
-
-
0030007789
-
An assay for X inactivation based on differential methylation at the fragile X locus, FMR I
-
Carrel L, Willard HF (1996): An assay for X inactivation based on differential methylation at the fragile X locus, FMR I. Am J Med Genet 64:27-30.
-
(1996)
Am J Med Genet
, vol.64
, pp. 27-30
-
-
Carrel, L.1
Willard, H.F.2
-
4
-
-
0025812918
-
Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency
-
Conley ME, Burks AW, Herrod HG, Puck JM (1991): Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency. J Pediatr 119:392-397.
-
(1991)
J Pediatr
, vol.119
, pp. 392-397
-
-
Conley, M.E.1
Burks, A.W.2
Herrod, H.G.3
Puck, J.M.4
-
5
-
-
0018870764
-
X-linked hypogammaglobulinemia and isolated growth hormone deficiency
-
Fleisher TA, White RM, Broder S, Nissley SP, Blaese RM, Mulvihill JJ, Olive G, Waldmann TA (1980): X-linked hypogammaglobulinemia and isolated growth hormone deficiency. N Engl J Med 302:1429-1434.
-
(1980)
N Engl J Med
, vol.302
, pp. 1429-1434
-
-
Fleisher, T.A.1
White, R.M.2
Broder, S.3
Nissley, S.P.4
Blaese, R.M.5
Mulvihill, J.J.6
Olive, G.7
Waldmann, T.A.8
-
7
-
-
0029971076
-
Familial X-linked mental retardation and isolated growth hormone deficiency: Clinical and molecular findings
-
Hamel BCJ, Smits APT, Otten BJ, van den Helm B, Ropers HH, Mariman ECM (1996): Familial X-linked mental retardation and isolated growth hormone deficiency: Clinical and molecular findings. AM J Med Genet 64:35-41.
-
(1996)
AM J Med Genet
, vol.64
, pp. 35-41
-
-
Hamel, B.C.J.1
Smits, A.P.T.2
Otten, B.J.3
Van Den Helm, B.4
Ropers, H.H.5
Mariman, E.C.M.6
-
9
-
-
0027203684
-
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
-
Knight SJL, Flannery AV, Hirst MC, Campbell L, Christodoulo Z, Phelps SR, Pointon J, Middleton-Price HR, Barnicoat A, Pembrey ME, Holland J, Oostra BA, Bobrow M, Davies KE (1993): Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74:127-134.
-
(1993)
Cell
, vol.74
, pp. 127-134
-
-
Knight, S.J.L.1
Flannery, A.V.2
Hirst, M.C.3
Campbell, L.4
Christodoulo, Z.5
Phelps, S.R.6
Pointon, J.7
Middleton-Price, H.R.8
Barnicoat, A.9
Pembrey, M.E.10
Holland, J.11
Oostra, B.A.12
Bobrow, M.13
Davies, K.E.14
-
10
-
-
0345019020
-
X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26
-
Lagerström-Fermer M, Sundvall M, Johnsen E, Warne GL, Forrest SM, Zajac JD, Rickards A, Ravine D, Landegren U, Pettersson U (1997): X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26. Am J Hum Genet 60:910-916.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 910-916
-
-
Lagerström-Fermer, M.1
Sundvall, M.2
Johnsen, E.3
Warne, G.L.4
Forrest, S.M.5
Zajac, J.D.6
Rickards, A.7
Ravine, D.8
Landegren, U.9
Pettersson, U.10
-
11
-
-
0021850103
-
Multilocus linkage analysis in humans: Detection of linkage analysis in humans; detection of linkage and estimation of recombination
-
Lathrop GM, Lalouel JM, Julier C, Ott J (1985): Multilocus linkage analysis in humans: Detection of linkage analysis in humans; detection of linkage and estimation of recombination. Am J Hum Genet 37:482-498.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 482-498
-
-
Lathrop, G.M.1
Lalouel, J.M.2
Julier, C.3
Ott, J.4
-
12
-
-
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
-
13
-
-
0003576999
-
-
London: Lewis, 1938. Traduction et adaptation française. Issy-les-Moulineaux: Editions Scientifiques et Psychotechniques
-
Raven JC (1976): "Standard Progressive Matrices: Sets A, B, C, D and E." London: Lewis, 1938. Traduction et adaptation française. Issy-les-Moulineaux: Editions Scientifiques et Psychotechniques.
-
(1976)
Standard Progressive Matrices: Sets A, B, C, D and E
-
-
Raven, J.C.1
-
14
-
-
0029887239
-
X-linked mental retardation with neonatal hypotonia in a French family (MRX15): Gene assignment to Xp11.22-Xp21.1
-
Raynaud M, Gendrot C, Dessay B, Moncla A, Ayrault AD, Moizard MP, Toutain A, Briault S, Villard L, Ronce N, Moraine C (1996): X-linked mental retardation with neonatal hypotonia in a French family (MRX15): Gene assignment to Xp11.22-Xp21.1. Am J Med Genet 64: 97-106.
-
(1996)
Am J Med Genet
, vol.64
, pp. 97-106
-
-
Raynaud, M.1
Gendrot, C.2
Dessay, B.3
Moncla, A.4
Ayrault, A.D.5
Moizard, M.P.6
Toutain, A.7
Briault, S.8
Villard, L.9
Ronce, N.10
Moraine, C.11
-
15
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
-
Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boue J, Tommerup N, van der Hagen C, DeLozier-Blanchet C, Croquette MF, Gilgenkrantz S, Jalbert P, Voelckel MA, Oberlé I, Mandel JL (1991): Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 325:1673-1681.
-
(1991)
N Engl J Med
, vol.325
, pp. 1673-1681
-
-
Rousseau, F.1
Heitz, D.2
Biancalana, V.3
Blumenfeld, S.4
Kretz, C.5
Boue, J.6
Tommerup, N.7
Van Der Hagen, C.8
Delozier-Blanchet, C.9
Croquette, M.F.10
Gilgenkrantz, S.11
Jalbert, P.12
Voelckel, M.A.13
Oberlé, I.14
Mandel, J.L.15
-
16
-
-
0028964415
-
X-linked mental retardation and neurological symptoms: A nosological approach
-
Schrander-Stumpel CTRM, Höweler CJ, Fryns JP (1995): X-linked mental retardation and neurological symptoms: A nosological approach. Genet Couns 6:21-32.
-
(1995)
Genet Couns
, vol.6
, pp. 21-32
-
-
Schrander-Stumpel, C.T.R.M.1
Höweler, C.J.2
Fryns, J.P.3
-
18
-
-
0023682882
-
A new syndrome with mental retardation, short stature, and an Xq duplication
-
Thode A, Partington MW, Yip MY, Chapman C, Richardson VF, Turner G (1988): A new syndrome with mental retardation, short stature, and an Xq duplication. Am J Med Genet 30:239-250.
-
(1988)
Am J Med Genet
, vol.30
, pp. 239-250
-
-
Thode, A.1
Partington, M.W.2
Yip, M.Y.3
Chapman, C.4
Richardson, V.F.5
Turner, G.6
-
19
-
-
0003441705
-
-
Traduction et adaptation française. Paris: Les Editions du Centre de Psychologie Appliquée
-
Wechsler D (1989): "Wechsler Adult Intelligence Scale-Revised (WAIS-R)." Traduction et adaptation française. Paris: Les Editions du Centre de Psychologie Appliquée.
-
(1989)
Wechsler Adult Intelligence Scale-Revised (WAIS-R)
-
-
Wechsler, D.1
-
21
-
-
0026549518
-
Growth hormone deficiency and empty sella syndrome in a boy with dup(X)(q13.3-q21.2)
-
Yokoyama Y, Narahara K, Tsuji K, Moriwake T, Kanzaki S, Murakami M, Namba H, Ninomiya S, Higuchi J, Seino Y (1992): Growth hormone deficiency and empty sella syndrome in a boy with dup(X)(q13.3-q21.2). Am J Med Genet 42:660-664.
-
(1992)
Am J Med Genet
, vol.42
, pp. 660-664
-
-
Yokoyama, Y.1
Narahara, K.2
Tsuji, K.3
Moriwake, T.4
Kanzaki, S.5
Murakami, M.6
Namba, H.7
Ninomiya, S.8
Higuchi, J.9
Seino, Y.10
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