-
1
-
-
20144386602
-
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size
-
Bond J, Roberts E, Springell K, Lizarraga SB, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, et al (2005) A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet 37:353-355
-
(2005)
Nat Genet
, vol.37
, pp. 353-355
-
-
Bond, J.1
Roberts, E.2
Springell, K.3
Lizarraga, S.B.4
Scott, S.5
Higgins, J.6
Hampshire, D.J.7
Morrison, E.E.8
Leal, G.F.9
Silva, E.O.10
-
2
-
-
0242607170
-
Protein-truncating mutations in ASPM cause variable reduction in brain size
-
Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, et al (2003) Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet 73:1170-1177
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1170-1177
-
-
Bond, J.1
Scott, S.2
Hampshire, D.J.3
Springell, K.4
Corry, P.5
Abramowicz, M.J.6
Mochida, G.H.7
Hennekam, R.C.8
Maher, E.R.9
Fryns, J.P.10
-
3
-
-
17444444915
-
A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
-
des Portes V, Pinard JM, Billuart P, Vinet MC, Koulakoff A, Carrie A, Gelot A, Dupuis E, Motte J, Berwald-Netter Y, et al (1998) A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 92:51-61
-
(1998)
Cell
, vol.92
, pp. 51-61
-
-
des Portes, V.1
Pinard, J.M.2
Billuart, P.3
Vinet, M.C.4
Koulakoff, A.5
Carrie, A.6
Gelot, A.7
Dupuis, E.8
Motte, J.9
Berwald-Netter, Y.10
-
4
-
-
0032498306
-
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
-
Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, et al (1998) Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 92:63-72
-
(1998)
Cell
, vol.92
, pp. 63-72
-
-
Gleeson, J.G.1
Allen, K.M.2
Fox, J.W.3
Lamperti, E.D.4
Berkovic, S.5
Scheffer, I.6
Cooper, E.C.7
Dobyns, W.B.8
Minnerath, S.R.9
Ross, M.E.10
-
5
-
-
3242696203
-
Mutations in the DLG3 gene cause non-syndromic X-linked mental retardation
-
Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, Cox J, Davies H, Edkins S, Holden S, et al (2004) Mutations in the DLG3 gene cause non-syndromic X-linked mental retardation. Am J Hum Genet 75:318-324
-
(2004)
Am J Hum Genet
, vol.75
, pp. 318-324
-
-
Tarpey, P.1
Parnau, J.2
Blow, M.3
Woffendin, H.4
Bignell, G.5
Cox, C.6
Cox, J.7
Davies, H.8
Edkins, S.9
Holden, S.10
-
6
-
-
0037656313
-
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
-
Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M, Gillberg C, et al (2003) Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34:27-29
-
(2003)
Nat Genet
, vol.34
, pp. 27-29
-
-
Jamain, S.1
Quach, H.2
Betancur, C.3
Rastam, M.4
Colineaux, C.5
Gillberg, I.C.6
Soderstrom, H.7
Giros, B.8
Leboyer, M.9
Gillberg, C.10
-
7
-
-
0001665187
-
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
-
Stromme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lutcherath V, Gedeon AK, Wallace RH, Scheffer IE, et al (2002) Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 30:441-445
-
(2002)
Nat Genet
, vol.30
, pp. 441-445
-
-
Stromme, P.1
Mangelsdorf, M.E.2
Shaw, M.A.3
Lower, K.M.4
Lewis, S.M.5
Bruyere, H.6
Lutcherath, V.7
Gedeon, A.K.8
Wallace, R.H.9
Scheffer, I.E.10
-
8
-
-
0028939603
-
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-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 α-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
-
9
-
-
17344369362
-
Mutations in GDI1 are responsible for X-linked non-specific mental retardation
-
D'Adamo P, Menegon A, Lo Nigro C, Grasso M, Gulisano M, Tamanini F, Bienvenu T, Gedeon AK, Oostra B, Wu SK, et al (1998) Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nat Genet 19:134-139
-
(1998)
Nat Genet
, vol.19
, pp. 134-139
-
-
D'Adamo, P.1
Menegon, A.2
Lo Nigro, C.3
Grasso, M.4
Gulisano, M.5
Tamanini, F.6
Bienvenu, T.7
Gedeon, A.K.8
Oostra, B.9
Wu, S.K.10
-
10
-
-
0033775672
-
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
-
Kutsche K, Yntema H, Brandt A, Jantke I, Nothwang HG, Orth U, Boavida MG, David D, Chelly J, Fryns JP, et al (2000) Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet 26:247-250
-
(2000)
Nat Genet
, vol.26
, pp. 247-250
-
-
Kutsche, K.1
Yntema, H.2
Brandt, A.3
Jantke, I.4
Nothwang, H.G.5
Orth, U.6
Boavida, M.G.7
David, D.8
Chelly, J.9
Fryns, J.P.10
-
11
-
-
0029971236
-
Revised diagnostic criteria for the Marfan syndrome
-
De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE (1996) Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 62:417-426
-
(1996)
Am J Med Genet
, vol.62
, pp. 417-426
-
-
De Paepe, A.1
Devereux, R.B.2
Dietz, H.C.3
Hennekam, R.C.4
Pyeritz, R.E.5
-
12
-
-
24744466287
-
DHHC9 and GCP16 constitute a human protein fatty acyltransferase with specificity for H-and N-Ras
-
Swarthout JT, Lobo S, Farh L, Croke MR, Greentree WK, Deschenes RJ, Linder ME (2005) DHHC9 and GCP16 constitute a human protein fatty acyltransferase with specificity for H-and N-Ras. J Biol Chem 280:31141-31148
-
(2005)
J Biol Chem
, vol.280
, pp. 31141-31148
-
-
Swarthout, J.T.1
Lobo, S.2
Farh, L.3
Croke, M.R.4
Greentree, W.K.5
Deschenes, R.J.6
Linder, M.E.7
-
13
-
-
20144375061
-
An acylation cycle regulates localization and activity of palmitoylated Ras isoforms
-
Rocks O, Peyker A, Kahms M, Verveer PJ, Koerner C, Lumbierres M, Kuhlmann J, Waldmann H, Wittinghofer A, Bastiaens PI (2005) An acylation cycle regulates localization and activity of palmitoylated Ras isoforms. Science 307:1746-1752
-
(2005)
Science
, vol.307
, pp. 1746-1752
-
-
Rocks, O.1
Peyker, A.2
Kahms, M.3
Verveer, P.J.4
Koerner, C.5
Lumbierres, M.6
Kuhlmann, J.7
Waldmann, H.8
Wittinghofer, A.9
Bastiaens, P.I.10
-
14
-
-
33745745892
-
Spatio-temporal segregation of Ras signals: One ship, three anchors, many harbors
-
Rocks O, Peyker A, Bastiaens PI (2006) Spatio-temporal segregation of Ras signals: one ship, three anchors, many harbors. Curr Opin Cell Biol 18:351-357
-
(2006)
Curr Opin Cell Biol
, vol.18
, pp. 351-357
-
-
Rocks, O.1
Peyker, A.2
Bastiaens, P.I.3
-
15
-
-
27144531386
-
Germline mutations in HRAS proto-oncogene cause Costello syndrome
-
Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, et al (2005) Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 37:1038-1040
-
(2005)
Nat Genet
, vol.37
, pp. 1038-1040
-
-
Aoki, Y.1
Niihori, T.2
Kawame, H.3
Kurosawa, K.4
Ohashi, H.5
Tanaka, Y.6
Filocamo, M.7
Kato, K.8
Suzuki, Y.9
Kure, S.10
-
16
-
-
33644622238
-
Germline KRAS mutations cause Noonan syndrome
-
Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, et al (2006) Germline KRAS mutations cause Noonan syndrome. Nat Genet 38:331-336
-
(2006)
Nat Genet
, vol.38
, pp. 331-336
-
-
Schubbert, S.1
Zenker, M.2
Rowe, S.L.3
Boll, S.4
Klein, C.5
Bollag, G.6
van der Burgt, I.7
Musante, L.8
Kalscheuer, V.9
Wehner, L.E.10
-
17
-
-
33644696097
-
Germline mutations in genes within the MAPK pathway cause cardio-faciocutaneous syndrome
-
Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA (2006) Germline mutations in genes within the MAPK pathway cause cardio-faciocutaneous syndrome. Science 311:1287-1290
-
(2006)
Science
, vol.311
, pp. 1287-1290
-
-
Rodriguez-Viciana, P.1
Tetsu, O.2
Tidyman, W.E.3
Estep, A.L.4
Conger, B.A.5
Cruz, M.S.6
McCormick, F.7
Rauen, K.A.8
-
18
-
-
33644629727
-
Germline KRAS and BRAF mutations in cardiofacio-cutaneous syndrome
-
Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, et al (2006) Germline KRAS and BRAF mutations in cardiofacio-cutaneous syndrome. Nat Genet 38:294-296
-
(2006)
Nat Genet
, vol.38
, pp. 294-296
-
-
Niihori, T.1
Aoki, Y.2
Narumi, Y.3
Neri, G.4
Cave, H.5
Verloes, A.6
Okamoto, N.7
Hennekam, R.C.8
Gillessen-Kaesbach, G.9
Wieczorek, D.10
-
19
-
-
2342471359
-
Regulation of dendritic branching and filopodia formation in hippocampal neurons by specific acylated protein motifs
-
Gauthier-Campbell C, Bredt DS, Murphy TH, El-Husseini AE-D (2004) Regulation of dendritic branching and filopodia formation in hippocampal neurons by specific acylated protein motifs. Mol Biol Cell 15:2205-2217
-
(2004)
Mol Biol Cell
, vol.15
, pp. 2205-2217
-
-
Gauthier-Campbell, C.1
Bredt, D.S.2
Murphy, T.H.3
El-Husseini, A.E.-D.4
-
20
-
-
18344396972
-
Synaptic strength regulated by palmitate cycling on PSD-95
-
El-Husseini AE-D, Schnell E, Dakoji S, Sweeney N, Zhou Q, Prange O, Gauthier-Campbell C, Aguilera-Moreno A, Nicoll RA, Bredt DS (2002) Synaptic strength regulated by palmitate cycling on PSD-95. Cell 108:849-863
-
(2002)
Cell
, vol.108
, pp. 849-863
-
-
El-Husseini, A.E.-D.1
Schnell, E.2
Dakoji, S.3
Sweeney, N.4
Zhou, Q.5
Prange, O.6
Gauthier-Campbell, C.7
Aguilera-Moreno, A.8
Nicoll, R.A.9
Bredt, D.S.10
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