-
1
-
-
0028246328
-
Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22
-
Donnelly AJ, Choo AKH, Kozmann HM, Gedeon Ak, Danks DM, Mulley JC (1994): Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22. Am J Med Genet 51: 581-585.
-
(1994)
Am J Med Genet
, vol.51
, pp. 581-585
-
-
Donnelly, A.J.1
Choo, A.K.H.2
Kozmann, H.M.3
Gedeon, A.K.4
Danks, D.M.5
Mulley, J.C.6
-
2
-
-
0027434832
-
Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation beakpoint in a patient with Rett syndrome
-
Ellison KA, Roth EJ, McCabe ER, Chinault AC, Zoghbi HY (1993): Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation beakpoint in a patient with Rett syndrome. Am J Med Genet 47:1124-1134.
-
(1993)
Am J Med Genet
, vol.47
, pp. 1124-1134
-
-
Ellison, K.A.1
Roth, E.J.2
McCabe, E.R.3
Chinault, A.C.4
Zoghbi, H.Y.5
-
3
-
-
0026345716
-
Variation of the CGG repeat at the fragile site results in genetic instability: Resolution of the Sherman paradox
-
Fu Y-H, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, Holden JJA, Fenwick RG, Warren ST, Oostra BA, Nelson DL, Caskey CT (1991): Variation of the CGG repeat at the fragile site results in genetic instability: Resolution of the Sherman paradox. Cell 67:1047-1058.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.-H.1
Kuhl, D.P.A.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
Verkerk, A.J.M.H.7
Holden, J.J.A.8
Fenwick, R.G.9
Warren, S.T.10
Oostra, B.A.11
Nelson, D.L.12
Caskey, C.T.13
-
4
-
-
0025884456
-
Localisation of the MRX3 gene for non-specific X-linked mental retardation
-
Gedeon A, Bronwyn K, Mulley J, Turner G (1991): Localisation of the MRX3 gene for non-specific X-linked mental retardation. J Med Genet 28:327-377.
-
(1991)
J Med Genet
, vol.28
, pp. 327-377
-
-
Gedeon, A.1
Bronwyn, K.2
Mulley, J.3
Turner, G.4
-
5
-
-
0028245480
-
Pericentromeric genes for non-specific X-linked mental retardation (MRX)
-
Gedeon A, Kerr B, Mulley J, Turner G (1994): Pericentromeric genes for non-specific X-linked mental retardation (MRX). Am J Med Genet 51:553-564.
-
(1994)
Am J Med Genet
, vol.51
, pp. 553-564
-
-
Gedeon, A.1
Kerr, B.2
Mulley, J.3
Turner, G.4
-
6
-
-
0028195097
-
X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: A new MRX family (MRX14) with localization in the pericentromeric region
-
Gendrot C, Ronce N, Toutain A, Moizard M-P, Müh J-p, Raynaud M, Dourlens J, Briault S, Moraine C (1994): X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: A new MRX family (MRX14) with localization in the pericentromeric region. Clin Genet 45:145-153
-
(1994)
Clin Genet
, vol.45
, pp. 145-153
-
-
Gendrot, C.1
Ronce, N.2
Toutain, A.3
Moizard, M.-P.4
Müh, J.-P.5
Raynaud, M.6
Dourlens, J.7
Briault, S.8
Moraine, C.9
-
7
-
-
0028231090
-
The 1993-94 Généthon human genetic linkage map
-
Gyapay G, Morisette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J (1994): The 1993-94 Généthon human genetic linkage map. Nature Genet 7: 264-339.
-
(1994)
Nature Genet
, vol.7
, pp. 264-339
-
-
Gyapay, G.1
Morisette, J.2
Vignal, A.3
Dib, C.4
Fizames, C.5
Millasseau, P.6
Marc, S.7
Bernardi, G.8
Lathrop, M.9
Weissenbach, J.10
-
8
-
-
2542521908
-
X-linked mental retardation: The Nijmengen experience: Highlights and pitfalls
-
Paper presented Tromsø, Norway
-
Hamel BCJ, Smeets DFCM, Smits APT, van de Helm B, Kremer H, Knoers N, Ropers HH, Mariman EC (1995): X-linked mental retardation: The Nijmengen experience: Highlights and pitfalls. Paper presented at the 7th International Workshop on the Fragile X and X-Linked Mental Retardation. Tromsø, Norway.
-
(1995)
7th International Workshop on the Fragile X and X-Linked Mental Retardation
-
-
Hamel, B.C.J.1
Smeets, D.F.C.M.2
Smits, A.P.T.3
Van De Helm, B.4
Kremer, H.5
Knoers, N.6
Ropers, H.H.7
Mariman, E.C.8
-
9
-
-
0026749124
-
Localization of non-specific X-linked mental retardation genes
-
Kerr B, Gedeon A, Mulley J, Turner G (1992): Localization of non-specific X-linked mental retardation genes. Am J Med Genet 43: 392-401.
-
(1992)
Am J Med Genet
, vol.43
, pp. 392-401
-
-
Kerr, B.1
Gedeon, A.2
Mulley, J.3
Turner, G.4
-
10
-
-
0027203684
-
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
-
Knight SJL, Flannery AV, Hirst MC, Campbell L, Christodoulou 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
Christodoulou, 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
-
11
-
-
0002554724
-
A new form of X-linked mental retardation (XLMR) linked to DXS369 (RN1)
-
Kondo I, Tsukamoto K, Niikawa N, Okano K, Kanazawa I, Hupkes PE (1991): A new form of X-linked mental retardation (XLMR) linked to DXS369 (RN1). Cytogenet Cell Genet 58:2071.
-
(1991)
Cytogenet Cell Genet
, vol.58
, pp. 2071
-
-
Kondo, I.1
Tsukamoto, K.2
Niikawa, N.3
Okano, K.4
Kanazawa, I.5
Hupkes, P.E.6
-
12
-
-
0027442404
-
Mapping a gene for non-specific X-linked mental retardation: Evidence for linkage to chromosomal region Xp21.1-Xp22.3
-
Kozak L, Chiurazzi P, Genuardi M, Pomponi MG, Zollino M, Neri G (1993): Mapping a gene for non-specific X-linked mental retardation: Evidence for linkage to chromosomal region Xp21.1-Xp22.3. J Med Genet 30:866-869.
-
(1993)
J Med Genet
, vol.30
, pp. 866-869
-
-
Kozak, L.1
Chiurazzi, P.2
Genuardi, M.3
Pomponi, M.G.4
Zollino, M.5
Neri, G.6
-
14
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF (1988): A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 16:1215.
-
(1988)
Nucl Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
17
-
-
0026526250
-
Linkage to Xq28 in a family with nonspecific X-linked mental retardation
-
Nordström A-M, Penttinen M, Koskull H (1992): Linkage to Xq28 in a family with nonspecific X-linked mental retardation. Hum Genet 90:263-266.
-
(1992)
Hum Genet
, vol.90
, pp. 263-266
-
-
Nordström, A.-M.1
Penttinen, M.2
Koskull, H.3
-
18
-
-
0026576753
-
The fragile X syndrome: Isolation of the FMR-1 gene and characterization of the fragile X mutation
-
Oostra BA, Verkerk AJMH (1992) The fragile X syndrome: Isolation of the FMR-1 gene and characterization of the fragile X mutation. Chromosoma 101:381-387.
-
(1992)
Chromosoma
, vol.101
, pp. 381-387
-
-
Oostra, B.A.1
Verkerk, A.J.M.H.2
-
20
-
-
0027419673
-
Severe non-specific X-linked mental ratardation caused by a proximally Xp located gene
-
Passos-Bueno MR, Byth BC, Rosenberg S, Takata RI, Bakker E, Beggs AH, Pavanello RC, Vainzof M, Davies KE, Zatz M (1993): Severe non-specific X-linked mental ratardation caused by a proximally Xp located gene. Am J Med Genet 46:172-175.
-
(1993)
Am J Med Genet
, vol.46
, pp. 172-175
-
-
Passos-Bueno, M.R.1
Byth, B.C.2
Rosenberg, S.3
Takata, R.I.4
Bakker, E.5
Beggs, A.H.6
Pavanello, R.C.7
Vainzof, M.8
Davies, K.E.9
Zatz, M.10
-
21
-
-
2542599612
-
Non-specific mental retardation is probably caused by a microdeletion in a Belgian family
-
Paper presented Tromsø, Norway
-
Raeymaekers P, Lin J, Gu XX, Soekarman D, Cassiman JJ, Fryns JP, Marynen P (1995): Non-specific mental retardation is probably caused by a microdeletion in a Belgian family. Paper presented at the 7th International Workshop on the Fragile X and X-Linked Mental Retardation. Tromsø, Norway.
-
(1995)
7th International Workshop on the Fragile X and X-Linked Mental Retardation
-
-
Raeymaekers, P.1
Lin, J.2
Gu, X.X.3
Soekarman, D.4
Cassiman, J.J.5
Fryns, J.P.6
Marynen, P.7
-
22
-
-
2542517314
-
Seven unpublished XLMR families: Newly reported or recently refined linkage results and phenotype studies
-
Paper presented Tromsø, Norway
-
Ronce N, Briault S, Toutain A, Moizard MP, Raynaud M, Guichet A, Gendrot C, Moncla A, Francanet C, Manouvier S, Colleaux L, Fontes M, Moraine CI (1995): Seven unpublished XLMR families: Newly reported or recently refined linkage results and phenotype studies. Paper presented at the 7th International Workshop on the Fragile X and X-Linked Mental Retardation. Tromsø, Norway.
-
(1995)
7th International Workshop on the Fragile X and X-Linked Mental Retardation
-
-
Ronce, N.1
Briault, S.2
Toutain, A.3
Moizard, M.P.4
Raynaud, M.5
Guichet, A.6
Gendrot, C.7
Moncla, A.8
Francanet, C.9
Manouvier, S.10
Colleaux, L.11
Fontes, M.12
Moraine, C.I.13
-
24
-
-
0027166351
-
Four STR polymorphisms map to a 500 kb region between DXS15 and DXS134
-
Wehnert M, Reiner O, Caskey CT (1993): Four STR polymorphisms map to a 500 kb region between DXS15 and DXS134. Hum Mol Genet 2:1503.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1503
-
-
Wehnert, M.1
Reiner, O.2
Caskey, C.T.3
|