-
1
-
-
0031710557
-
PAK3 mutation in nonsyndromic X-linked mental retardation
-
(1998)
Nat Genet
, vol.20
, pp. 25-30
-
-
Allen, K.M.1
Gleeson, J.G.2
Bagrodia, S.3
Partington, M.W.4
MacMillan, J.C.5
Cerione, R.A.6
Mulley, J.C.7
Walsh, C.A.8
-
2
-
-
7344219887
-
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1311-1315
-
-
Bienvenu, T.1
Des Portes, V.2
De Saint Martin, A.3
Billuart, P.4
Carrie, A.5
Vinet, M.C.6
Ceuvert, P.7
Toniolo, P.8
Moraine, C.9
Beldjord, C.10
Chelly, J.11
-
3
-
-
0032580161
-
Oligophrenin 1, a novel gene encoding a rho-GAP protein involved in X-linked non-specific mental retardation
-
(1998)
Nature
, vol.392
, pp. 923-926
-
-
Billuart, P.1
Bienvenu, T.2
Ronce, N.3
Des Portes, V.4
Vinet, M.C.5
Zemni, R.6
Crollius, H.C.7
Carrie, A.8
Fauchereau, F.9
Cherry, M.10
Briault, S.11
Hamel, B.12
Fryns, J.P.13
Beldjord, C.14
Kahn, A.15
Moraine, C.16
Chelly, J.17
-
5
-
-
0032819848
-
A novel member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mentel retardation
-
(1999)
Nat Genet
, vol.23
, pp. 25-31
-
-
Carrie, A.1
Jun, L.2
Bienvenu, T.3
Vinet, M.C.4
Van Buggenhout, G.5
Frints, S.6
Hamel, B.7
Moraine, C.8
Ropers, H.H.9
Strom, T.10
Kahn, A.11
Fryns, J.P.12
Beldjord, C.13
Marynen, P.14
Chelly, J.15
-
6
-
-
0032872234
-
Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1833-1838
-
-
Chelly, J.1
-
7
-
-
17344369362
-
Mutations in GDI1 are responsible for X-linked mental retardation
-
(1998)
Nat Genet
, vol.19
, pp. 134-139
-
-
D'Adamo, P.1
Bienvenu, T.2
Gulisano, M.3
Menegon, A.4
Valtorta, F.5
Belch, W.6
Chelly, J.7
Toniolo, D.8
-
14
-
-
0032910443
-
A missense mutation in RPS6KA3 responsible for non-specific mental retardation
-
(1999)
Nat Genet
, vol.22
, pp. 13-14
-
-
Merienne, K.1
Jacquot, S.2
Pannetier, S.3
Zenlou, M.4
Bankier, A.5
Gecz, J.6
Mendel, J.L.7
Mulley, J.8
Sassone-Corsi, P.9
Hanauer, A.10
-
17
-
-
0028141919
-
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: The first 2,253 cases
-
(1994)
Am J Hum Genet
, vol.55
, pp. 225-237
-
-
Rousseau, F.1
Heitz, D.2
Tarleton, J.3
MacPherson, J.4
Malmgren, H.5
Dahl, N.6
Barnicoat, A.7
Mathew, C.8
Mornet, E.9
Tejada, I.10
Maddalena, A.11
Spiegel, R.12
Schinzel, A.13
Marcos, G.14
Schorderet, D.F.15
Schaap, T.16
Maccioni, L.17
Russo, S.18
Jacobs, P.A.19
Schawartz, C.20
Mandel, J.L.21
more..
-
18
-
-
0033037970
-
X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families
-
The European XLMR consortium
-
(1999)
Am J Med Genet
, vol.85
, pp. 263-265
-
-
-
19
-
-
0029832136
-
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome
-
(1996)
Nature
, vol.384
, pp. 567-570
-
-
Trivier, E.1
De Cesare, D.2
Jacquot, S.3
Pannetier, S.4
Zackai, E.5
Young, Y.6
Mandel, J.L.7
Sassone-Corsi, P.8
Hanauer, A.9
-
20
-
-
0033968407
-
Identification of a novel gene involved in X-linked mental retardation through investigation of an X;2 balanced translocation
-
(2000)
Nat Genet
, vol.24
, pp. 167-170
-
-
Zemni, R.1
Bienvenu, T.2
Vinet, M.C.3
Billuart, P.4
Carrie Ace, N.5
Moraine, C.6
Van Bokhoven, H.7
Ropers, H.H.8
Kahn, A.9
Sefiani, A.10
Fryns, J.P.11
Beldjord, B.12
Chelly, J.13
|