-
1
-
-
67649921127
-
The genetic landscape of intellectual disability arising from chromosome X
-
10.1016/j.tig.2009.05.002. 19556021
-
The genetic landscape of intellectual disability arising from chromosome X. Gecz J Shoubridge C Corbett M, Trends Genet 2009 25 7 308 316 10.1016/j.tig.2009.05.002 19556021
-
(2009)
Trends Genet
, vol.25
, Issue.7
, pp. 308-316
-
-
Gecz, J.1
Shoubridge, C.2
Corbett, M.3
-
2
-
-
0031194810
-
Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate
-
10.1016/S0925-4773(97)00062-2. 9256348
-
Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate. Miura H Yanazawa M, Kato K Kitamura K, Mech Dev 1997 65 1-2 99 109 10.1016/S0925-4773(97)00062-2 9256348
-
(1997)
Mech Dev
, vol.65
, Issue.1-2
, pp. 99-109
-
-
Miura, H.1
Yanazawa, M.2
Kato, K.3
Kitamura, K.4
-
3
-
-
0001665187
-
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
-
10.1038/ng862. 11889467
-
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, Turner G Partington M, Frints SG Fryns JP, Sutherland GR Mulley JC, Gécz J, Nat Genet 2002 30 4 441 445 10.1038/ng862 11889467
-
(2002)
Nat Genet
, vol.30
, Issue.4
, 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
Turner, G.11
Partington, M.12
Frints, S.G.13
Fryns, J.P.14
Sutherland, G.R.15
Mulley, J.C.16
Gécz, J.17
-
4
-
-
3242704307
-
Three new families with X-linked mental retardation caused by the 428-451dup(24 bp) mutation in ARX
-
10.1111/j.0009-9163.2004.00268.x. 15200506
-
Three new families with X-linked mental retardation caused by the 428-451dup(24 bp) mutation in ARX. Partington MW Turner G, Boyle J Gecz J, Clin Genet 2004 66 1 39 45 10.1111/j.0009-9163.2004.00268.x 15200506
-
(2004)
Clin Genet
, vol.66
, Issue.1
, pp. 39-45
-
-
Partington, M.W.1
Turner, G.2
Boyle, J.3
Gecz, J.4
-
5
-
-
0036844387
-
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
-
10.1038/ng1009. 12379852
-
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Kitamura K Yanazawa M Sugiyama N Miura H, Iizuka-Kogo A Kusaka M, Omichi K Suzuki R, Kato-Fukui Y Kamiirisa K, Matsuo M Kamijo S, Kasahara M Yoshioka H, Ogata T Fukuda T, Kondo I Kato M, Dobyns WB Yokoyama M, Morohashi K, Nat Genet 2002 32 3 359 369 10.1038/ng1009 12379852
-
(2002)
Nat Genet
, vol.32
, Issue.3
, pp. 359-369
-
-
Kitamura, K.1
Yanazawa, M.2
Sugiyama, N.3
Miura, H.4
Iizuka-Kogo, A.5
Kusaka, M.6
Omichi, K.7
Suzuki, R.8
Kato-Fukui, Y.9
Kamiirisa, K.10
Matsuo, M.11
Kamijo, S.12
Kasahara, M.13
Yoshioka, H.14
Ogata, T.15
Fukuda, T.16
Kondo, I.17
Kato, M.18
Dobyns, W.B.19
Yokoyama, M.20
Morohashi, K.21
more..
-
6
-
-
33646508354
-
ARX: A gene for all seasons
-
10.1016/j.gde.2006.04.003. 16650978
-
ARX: a gene for all seasons. Gecz J Cloosterman D Partington M, Curr Opin Genet Dev 2006 16 3 308 316 10.1016/j.gde.2006.04.003 16650978
-
(2006)
Curr Opin Genet Dev
, vol.16
, Issue.3
, pp. 308-316
-
-
Gecz, J.1
Cloosterman, J.D.2
Partington, M.3
-
7
-
-
3242712257
-
Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene
-
10.1055/s-2004-817919. 15248097
-
Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene. Hartmann H Uyanik G Gross C Hehr U, Lucke T Arslan-Kirchner M, Antosch B Das AM, Winkler J, Neuropediatrics 2004 35 3 157 160 10.1055/s-2004-817919 15248097
-
(2004)
Neuropediatrics
, vol.35
, Issue.3
, pp. 157-160
-
-
Hartmann, H.1
Uyanik, G.2
Gross, C.3
Hehr, U.4
Lucke, T.5
Arslan-Kirchner, M.6
Antosch, B.7
Das, A.M.8
Winkler, J.9
-
8
-
-
34548065480
-
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus
-
10.1212/01.wnl.0000266594.16202.c1. 17664401
-
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Guerrini R Moro F, Kato M Barkovich AJ, Shiihara T McShane MA, Hurst J Loi M, Tohyama J Norci V, Hayasaka K Kang UJ, Das S Dobyns WB, Neurology 2007 69 5 427 433 10.1212/01.wnl.0000266594.16202.c1 17664401
-
(2007)
Neurology
, vol.69
, Issue.5
, pp. 427-433
-
-
Guerrini, R.1
Moro, F.2
Kato, M.3
Barkovich, A.J.4
Shiihara, T.5
McShane, M.A.6
Hurst, J.7
Loi, M.8
Tohyama, J.9
Norci, V.10
Hayasaka, K.11
Kang, U.J.12
Das, S.13
Dobyns, W.B.14
-
9
-
-
47149114770
-
Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate
-
10.1002/jcu.20473. 18412232
-
Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate. Jagla M Kruczek P Kwinta P, J Clin Ultrasound 2008 36 6 387 390 10.1002/jcu.20473 18412232
-
(2008)
J Clin Ultrasound
, vol.36
, Issue.6
, pp. 387-390
-
-
Jagla, M.1
Kruczek, P.2
Kwinta, P.3
-
10
-
-
34547812084
-
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)
-
10.1086/518903. 17668384
-
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Kato M Saitoh S Kamei A Shiraishi H, Ueda Y Akasaka M, Tohyama J Akasaka N, Hayasaka K, Am J Hum Genet 2007 81 2 361 366 10.1086/518903 17668384
-
(2007)
Am J Hum Genet
, vol.81
, Issue.2
, pp. 361-366
-
-
Kato, M.1
Saitoh, S.2
Kamei, A.3
Shiraishi, H.4
Ueda, Y.5
Akasaka, M.6
Tohyama Akasaka, J.N.7
Hayasaka, K.8
-
11
-
-
33646523954
-
The ARX mutations: A frequent cause of X-linked mental retardation
-
16523516
-
The ARX mutations: a frequent cause of X-linked mental retardation. Nawara M Szczaluba K, Poirier K Chrzanowska K, Pilch J Bal J, Chelly J Mazurczak T, Am J Med Genet A 2006 140 7 727 732 16523516
-
(2006)
Am J Med Genet A
, vol.140
, Issue.7
, pp. 727-732
-
-
Nawara, M.1
Szczaluba, K.2
Poirier, K.3
Chrzanowska, K.4
Pilch, J.5
Bal, J.6
Chelly, J.7
Mazurczak, T.8
-
12
-
-
51849093485
-
Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: Evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG)
-
10.1007/s00401-008-0382-2. 18458920
-
Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG). Okazaki S Ohsawa M Kuki I Kawawaki H, Koriyama T Ri S, Ichiba H Hai E, Inoue T Nakamura H, Goto Y Tomiwa K, Yamano T Kitamura K, Itoh M, Acta Neuropathol 2008 116 4 453 462 10.1007/s00401-008-0382-2 18458920
-
(2008)
Acta Neuropathol
, vol.116
, Issue.4
, pp. 453-462
-
-
Okazaki, S.1
Ohsawa, M.2
Kuki, I.3
Kawawaki, H.4
Koriyama, T.5
Ri, S.6
Ichiba, H.7
Hai, E.8
Inoue, T.9
Nakamura, H.10
Goto, Y.11
Tomiwa, K.12
Yamano, T.13
Kitamura, K.14
Itoh, M.15
-
13
-
-
47749086260
-
Combination of infantile spasms, non-epileptic seizures and complex movement disorder: A new case of ARX-related epilepsy
-
10.1016/j.eplepsyres.2008.03.019. 18468866
-
Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy. Poirier K Eisermann M, Caubel I Kaminska A, Peudonnier S Boddaert N, Saillour Y Dulac O, Souville I Beldjord C, Lascelles K Plouin P, Chelly J Bahi-Buisson N, Epilepsy Res 2008 80 2-3 224 228 10.1016/j.eplepsyres.2008.03.019 18468866
-
(2008)
Epilepsy Res
, vol.80
, Issue.2-3
, pp. 224-228
-
-
Poirier, K.1
Eisermann, M.2
Caubel, I.3
Kaminska, A.4
Peudonnier, S.5
Boddaert, N.6
Saillour, Y.7
Dulac, O.8
Souville, I.9
Beldjord, C.10
Lascelles, K.11
Plouin, P.12
Chelly, J.13
Bahi-Buisson, N.14
-
14
-
-
33845713118
-
Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation
-
DOI 10.1212/01.wnl.0000247833.29314.5b, PII 0000611420061212000040
-
Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation. Szczaluba K Nawara M Poirier K Pilch J, Gajdulewicz M Spodar K, Chelly J Bal J, Mazurczak T, Neurology 2006 67 11 2073 2075 10.1212/01.wnl.0000247833.29314.5b 17082467 (Pubitemid 44967397)
-
(2006)
Neurology
, vol.67
, Issue.11
, pp. 2073-2075
-
-
Szczaluba, K.1
Nawara, M.2
Poirier, K.3
Pilch, J.4
Gajdulewicz, M.5
Spodar, K.6
Chelly, J.7
Bal, J.8
Mazurczak, T.9
-
15
-
-
34248548640
-
MRX87 family with Aristaless X dup24 bp mutation and implication for polyAlanine expansions
-
10.1186/1471-2350-8-25. 17480217
-
MRX87 family with Aristaless X dup24 bp mutation and implication for polyAlanine expansions. Laperuta C Spizzichino L, D'Adamo P Monfregola J, Maiorino A D'Eustacchio A, Ventruto V Neri G, D'Urso M Chiurazzi P, Ursini MV Miano MG, BMC Med Genet 2007 8 25 10.1186/1471-2350-8-25 17480217
-
(2007)
BMC Med Genet
, vol.8
, pp. 25
-
-
Laperuta, C.1
Spizzichino, L.2
D'Adamo, P.3
Monfregola, J.4
Maiorino, A.5
D'Eustacchio, A.6
Ventruto, V.7
Neri, G.8
D'Urso, M.9
Chiurazzi, P.10
Ursini, M.V.11
Miano, M.G.12
-
16
-
-
34548845828
-
Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: First report from Thailand
-
10.1016/j.ejmg.2007.05.003. 17613295
-
Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand. Rujirabanjerd S Tongsippunyoo K, Sripo T Limprasert P, Eur J Med Genet 2007 50 5 346 354 10.1016/j.ejmg.2007.05.003 17613295
-
(2007)
Eur J Med Genet
, vol.50
, Issue.5
, pp. 346-354
-
-
Rujirabanjerd, S.1
Tongsippunyoo, K.2
Sripo, T.3
Limprasert, P.4
-
17
-
-
67349115696
-
Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms
-
10.1016/j.braindev.2008.08.006. 18823727
-
Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms. Shinozaki Y Osawa M, Sakuma H Komaki H, Nakagawa E Sugai K, Sasaki M Goto Y, Brain Dev 2008 31 6 469 72 10.1016/j.braindev.2008.08.006 18823727
-
(2008)
Brain Dev
, vol.31
, Issue.6
, pp. 469-72
-
-
Shinozaki, Y.1
Osawa, M.2
Sakuma, H.3
Komaki, H.4
Nakagawa, E.5
Sugai, K.6
Sasaki Goto, M.Y.7
-
18
-
-
34447122459
-
A novel mutation of the ARX gene in a male with nonsyndromic mental retardation
-
10.1177/0883073807304000. 17641262
-
A novel mutation of the ARX gene in a male with nonsyndromic mental retardation. Troester MM Trachtenberg T Narayanan V, J Child Neurol 2007 22 6 744 748 10.1177/0883073807304000 17641262
-
(2007)
J Child Neurol
, vol.22
, Issue.6
, pp. 744-748
-
-
Troester, M.M.1
Trachtenberg, T.2
Narayanan, V.3
-
19
-
-
44449124178
-
Expansion of the ARX spectrum
-
10.1016/j.clineuro.2008.03.007. 18462864
-
Expansion of the ARX spectrum. Wallerstein R Sugalski R Cohn L Jawetz R, Friez M, Clin Neurol Neurosurg 2008 110 6 631 634 10.1016/j.clineuro.2008.03.007 18462864
-
(2008)
Clin Neurol Neurosurg
, vol.110
, Issue.6
, pp. 631-634
-
-
Wallerstein, R.1
Sugalski, R.2
Cohn, L.3
Jawetz, R.4
Friez, M.5
-
20
-
-
0027967042
-
X-linked pachygyria and agenesis of the corpus callosum: Evidence for an X chromosome lissencephaly locus
-
10.1002/ana.410360216. 8053659
-
X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus. Berry-Kravis E Israel J, Ann Neurol 1994 36 2 229 233 10.1002/ana.410360216 8053659
-
(1994)
Ann Neurol
, vol.36
, Issue.2
, pp. 229-233
-
-
Berry-Kravis, E.1
Israel, J.2
-
21
-
-
0032822119
-
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia
-
10.1002/(SICI)1096-8628(19991008)86:4<331::AID-AJMG7>3.0.CO;2-P. 10494089
-
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Dobyns WB Berry-Kravis E Havernick NJ Holden KR, Viskochil D, Am J Med Genet 1999 86 4 331 337 10.1002/(SICI)1096-8628(19991008)86:4<331::AID- AJMG7>3.0.CO;2-P 10494089
-
(1999)
Am J Med Genet
, vol.86
, Issue.4
, pp. 331-337
-
-
Dobyns, W.B.1
Berry-Kravis, E.2
Havernick, N.J.3
Holden, K.R.4
Viskochil, D.5
-
22
-
-
7144222745
-
Doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)
-
10.1093/hmg/7.7.1063. 9618162
-
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). des Portes V Francis F, Pinard JM Desguerre I, Moutard ML Snoeck I, Meiners LC Capron F, Cusmai R Ricci S, Motte J Echenne B, Ponsot G Dulac O, Chelly J Beldjord C, Hum Mol Genet 1998 7 7 1063 1070 10.1093/hmg/7.7.1063 9618162
-
(1998)
Hum Mol Genet
, vol.7
, Issue.7
, pp. 1063-1070
-
-
Des Portes, V.1
Francis, F.2
Pinard, J.M.3
Desguerre, I.4
Moutard, M.L.5
Snoeck, I.6
Meiners, L.C.7
Capron, F.8
Cusmai, R.9
Ricci, S.10
Motte, J.11
Echenne, B.12
Ponsot, G.13
Dulac, O.14
Chelly, J.15
Beldjord, C.16
-
23
-
-
0027176708
-
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats
-
10.1038/364717a0. 8355785
-
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Reiner O Carrozzo R, Shen Y Wehnert M, Faustinella F Dobyns WB, Caskey CT Ledbetter DH, Nature 1993 364 6439 717 721 10.1038/364717a0 8355785
-
(1993)
Nature
, vol.364
, Issue.6439
, pp. 717-721
-
-
Reiner, O.1
Carrozzo, R.2
Shen, Y.3
Wehnert, M.4
Faustinella, F.5
Dobyns, W.B.6
Caskey, C.T.7
Ledbetter, D.H.8
-
24
-
-
0342906570
-
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations
-
10.1038/79246. 10973257
-
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Hong SE Shugart YY, Huang DT Shahwan SA, Grant PE Hourihane JO, Martin ND Walsh CA, Nat Genet 2000 26 1 93 96 10.1038/79246 10973257
-
(2000)
Nat Genet
, vol.26
, Issue.1
, pp. 93-96
-
-
Hong, S.E.1
Shugart, Y.Y.2
Huang, D.T.3
Shahwan, S.A.4
Grant, P.E.5
Hourihane, J.O.6
Martin, N.D.7
Walsh, C.A.8
-
25
-
-
35648991438
-
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
-
10.1002/humu.20572. 17584854
-
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Poirier K Keays DA, Francis F Saillour Y, Bahi N Manouvrier S, Fallet-Bianco C Pasquier L, Toutain A Tuy FP, Bienvenu T Joriot S, Odent S Ville D, Desguerre I Goldenberg A, Moutard ML Fryns JP, van Esch H Harvey RJ, Siebold C Flint J, Beldjord C Chelly J, Hum Mutat 2007 28 11 1055 1064 10.1002/humu.20572 17584854
-
(2007)
Hum Mutat
, vol.28
, Issue.11
, pp. 1055-1064
-
-
Poirier, K.1
Keays, D.A.2
Francis, F.3
Saillour, Y.4
Bahi, N.5
Manouvrier, S.6
Fallet-Bianco, C.7
Pasquier, L.8
Toutain, A.9
Tuy, F.P.10
Bienvenu, T.11
Joriot, S.12
Odent, S.13
Ville, D.14
Desguerre, I.15
Goldenberg, A.16
Moutard, M.L.17
Fryns, J.P.18
Van Esch, H.19
Harvey, R.J.20
Siebold, C.21
Flint, J.22
Beldjord, C.23
Chelly, J.24
more..
-
26
-
-
33846037932
-
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans
-
10.1016/j.cell.2006.12.017. 17218254
-
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Keays DA Tian G, Poirier K Huang GJ, Siebold C Cleak J, Oliver PL Fray M, Harvey RJ Molnar Z, Pĩon MC Dear N, Valdar W Brown SD, Davies KE Rawlins JN, Cowan NJ Nolan P, Chelly J Flint J, Cell 2007 128 1 45 57 10.1016/j.cell.2006.12.017 17218254
-
(2007)
Cell
, vol.128
, Issue.1
, pp. 45-57
-
-
Keays, D.A.1
Tian, G.2
Poirier, K.3
Huang, G.J.4
Siebold, C.5
Cleak, J.6
Oliver, P.L.7
Fray, M.8
Harvey, R.J.9
Molnar, Z.10
Pĩon, M.C.11
Dear, N.12
Valdar, W.13
Brown, S.D.14
Davies, K.E.15
Rawlins, J.N.16
Cowan, N.J.17
Nolan, P.18
Chelly, J.19
Flint, J.20
more..
-
27
-
-
23944470349
-
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification
-
10.1086/444400. 16080122
-
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Boycott KM Flavelle S Bureau A Glass HC, Fujiwara TM Wirrell E, Davey K Chudley AE, Scott JN McLeod DR, Parboosingh JS, Am J Hum Genet 2005 77 3 477 483 10.1086/444400 16080122
-
(2005)
Am J Hum Genet
, vol.77
, Issue.3
, pp. 477-483
-
-
Boycott, K.M.1
Flavelle, S.2
Bureau, A.3
Glass, H.C.4
Fujiwara, T.M.5
Wirrell, E.6
Davey, K.7
Chudley, A.E.8
Scott, J.N.9
McLeod, D.R.10
Parboosingh, J.S.11
-
28
-
-
0037781681
-
ARX mutations in X-linked lissencephaly with abnormal genitalia
-
12874405
-
ARX mutations in X-linked lissencephaly with abnormal genitalia. Uyanik G Aigner L, Martin P Gross C, Neumann D Marschner-Schafer H, Hehr U Winkler J, Neurology 2003 61 2 232 235 12874405
-
(2003)
Neurology
, vol.61
, Issue.2
, pp. 232-235
-
-
Uyanik, G.1
Aigner, L.2
Martin, P.3
Gross, C.4
Neumann, D.5
Marschner-Schafer, H.6
Hehr, U.7
Winkler, J.8
-
29
-
-
3242686104
-
X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting
-
10.1055/s-2004-817955. 15248105
-
X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting. Hahn A Gross C Uyanik G Hehr U, Hugens-Penzel M Alzen G, Neubauer BA, Neuropediatrics 2004 35 3 202 205 10.1055/s-2004-817955 15248105
-
(2004)
Neuropediatrics
, vol.35
, Issue.3
, pp. 202-205
-
-
Hahn, A.1
Gross, C.2
Uyanik, G.3
Hehr, U.4
Hugens-Penzel, M.5
Alzen, G.6
Neubauer, B.A.7
-
30
-
-
10744222257
-
Mutations of ARX are associated with striking pleiotropic and consistent genotype-phenotype correlation
-
10.1002/humu.10310. 14722918
-
Mutations of ARX are associated with striking pleiotropic and consistent genotype-phenotype correlation. Kato M Das S Petras K Kitamura K, Morohashi K Abuelo DN, Barr M Tonneau D, Brady AF Carpenter NJ, Cipero KL Frisone F, Fukuda T Guerrini R, Iida E Itoh M, Lewanda AF Nanba Y, Oka A Proud VK, Saugier-Veber P Schelley SL, Selicorni A Shaner R, Silengo M Stewart F, Sugiyama N Toyama J, Toutain A Vargas AL, Yanazawa M Zackai EH, Dobyns WB, Hum Mutat 2004 23 2 147 159 10.1002/humu.10310 14722918
-
(2004)
Hum Mutat
, vol.23
, Issue.2
, pp. 147-159
-
-
Kato, M.1
Das, S.2
Petras, K.3
Kitamura, K.4
Morohashi, K.5
Abuelo, D.N.6
Barr, M.7
Tonneau, D.8
Brady, A.F.9
Carpenter, N.J.10
Cipero, K.L.11
Frisone, F.12
Fukuda, T.13
Guerrini, R.14
Iida, E.15
Itoh, M.16
Lewanda, A.F.17
Nanba, Y.18
Oka, A.19
Proud, V.K.20
Saugier-Veber, P.21
Schelley, S.L.22
Selicorni, A.23
Shaner, R.24
Silengo, M.25
Stewart, F.26
Sugiyama, N.27
Toyama, J.28
Toutain, A.29
Vargas, A.L.30
Yanazawa, M.31
Zackai, E.H.32
Dobyns, W.B.33
more..
-
31
-
-
24344444749
-
A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia
-
16097002
-
A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia. Bhat SS Rogers RC, Holden KR Srivastava AK, Am J Med Genet A 2005 138 1 70 72 16097002
-
(2005)
Am J Med Genet A
, vol.138
, Issue.1
, pp. 70-72
-
-
Bhat, S.S.1
Rogers, R.C.2
Holden, K.R.3
Srivastava, A.K.4
-
32
-
-
67649391197
-
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females
-
10.1093/brain/awp107. 19439424
-
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. Marsh E Fulp C, Gomez E Nasrallah I, Minarcik J Sudi J, Christian SL Mancini G, Labosky P Dobyns W, Brooks-Kayal A Golden JA, Brain 2009 132 Pt 6 1563 1576 10.1093/brain/awp107 19439424
-
(2009)
Brain
, vol.132
, Issue.PART 6
, pp. 1563-1576
-
-
Marsh, E.1
Fulp, C.2
Gomez, E.3
Nasrallah, I.4
Minarcik, J.5
Sudi, J.6
Christian, S.L.7
Mancini, G.8
Labosky, P.9
Dobyns, W.10
Brooks-Kayal, A.11
Golden, J.A.12
-
33
-
-
34250174769
-
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene
-
10.1016/j.ygeno.2007.03.005. 17490853
-
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. Shoubridge C Cloosterman D Parkinson-Lawerence E Brooks D, Gecz J, Genomics 2007 90 1 59 71 10.1016/j.ygeno.2007.03.005 17490853
-
(2007)
Genomics
, vol.90
, Issue.1
, pp. 59-71
-
-
Shoubridge, C.1
Cloosterman, D.2
Parkinson-Lawerence, E.3
Brooks, D.4
Gecz, J.5
-
34
-
-
2442642835
-
Paired-type homeodomain transcription factors are imported into the nucleus by karyopherin 13
-
10.1128/MCB.24.11.4824-4834.2004. 15143176
-
Paired-type homeodomain transcription factors are imported into the nucleus by karyopherin 13. Ploski JE Shamsher MK Radu A, Mol Cell Biol 2004 24 11 4824 4834 10.1128/MCB.24.11.4824-4834.2004 15143176
-
(2004)
Mol Cell Biol
, vol.24
, Issue.11
, pp. 4824-4834
-
-
Ploski, J.E.1
Shamsher, M.K.2
Radu, A.3
-
35
-
-
0035898685
-
Importin 13: A novel mediator of nuclear import and export
-
10.1093/emboj/20.14.3685. 11447110
-
Importin 13: a novel mediator of nuclear import and export. Mingot JM Kostka S Kraft R Hartmann E, Gorlich D, EMBO J 2001 20 14 3685 3694 10.1093/emboj/20.14.3685 11447110
-
(2001)
EMBO J
, vol.20
, Issue.14
, pp. 3685-3694
-
-
Mingot, J.M.1
Kostka, S.2
Kraft, R.3
Hartmann, E.4
Gorlich, D.5
-
36
-
-
67749110260
-
The roles of multiple importins for nuclear import of murine aristaless-related homeobox protein
-
10.1074/jbc.M109.004242. 19494118
-
The roles of multiple importins for nuclear import of murine aristaless-related homeobox protein. Lin W Ye W Cai L Meng X, Ke G Huang C, Peng Z Yu Y, Golden JA Tartakoff AM, Tao T, J Biol Chem 2009 284 30 20428 20439 10.1074/jbc.M109.004242 19494118
-
(2009)
J Biol Chem
, vol.284
, Issue.30
, pp. 20428-20439
-
-
Lin, W.1
Ye, W.2
Cai, L.3
Meng, X.4
Ke, G.5
Huang, C.6
Peng, Z.7
Yu, Y.8
Golden, J.A.9
Tartakoff, A.M.10
Tao, T.11
-
37
-
-
20444468112
-
Structural basis for nuclear import complex dissociation by RanGTP
-
10.1038/nature03578. 15864302
-
Structural basis for nuclear import complex dissociation by RanGTP. Lee SJ Matsuura Y, Liu SM Stewart M, Nature 2005 435 7042 693 696 10.1038/nature03578 15864302
-
(2005)
Nature
, vol.435
, Issue.7042
, pp. 693-696
-
-
Lee, S.J.1
Matsuura, Y.2
Liu, S.M.3
Stewart, M.4
-
38
-
-
0038810142
-
Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations
-
10.1073/pnas.1137864100. 12764225
-
Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations. Harley VR Layfield S, Mitchell CL Forwood JK, John AP Briggs LJ, McDowall SG Jans DA, Proc Natl Acad Sci USA 2003 100 12 7045 7050 10.1073/pnas.1137864100 12764225
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, Issue.12
, pp. 7045-7050
-
-
Harley, V.R.1
Layfield, S.2
Mitchell, C.L.3
Forwood, J.K.4
John, A.P.5
Briggs, L.J.6
McDowall, S.G.7
Jans, D.A.8
-
39
-
-
0035158663
-
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
-
10.1038/83703. 11137991
-
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Mavrogiannis LA Antonopoulou I, Baxova A Kutilek S, Kim CA Sugayama SM, Salamanca A Wall SA, Morriss-Kay GM Wilkie AO, Nat Genet 2001 27 1 17 18 10.1038/83703 11137991
-
(2001)
Nat Genet
, vol.27
, Issue.1
, pp. 17-18
-
-
Mavrogiannis, L.A.1
Antonopoulou, I.2
Baxova, A.3
Kutilek, S.4
Kim, C.A.5
Sugayama, S.M.6
Salamanca, A.7
Wall, S.A.8
Morriss-Kay, G.M.9
Wilkie, A.O.10
-
40
-
-
0032929074
-
Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: Direct evidence for the involvement of CRX in the development of photoreceptor function
-
10.1093/hmg/8.2.299. 9931337
-
Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. Swaroop A Wang QL Wu W Cook J, Coats C Xu S, Chen S Zack DJ, Sieving PA, Hum Mol Genet 1999 8 2 299 305 10.1093/hmg/8.2.299 9931337
-
(1999)
Hum Mol Genet
, vol.8
, Issue.2
, pp. 299-305
-
-
Swaroop, A.1
Wang, Q.L.2
Wu, W.3
Cook, J.4
Coats, C.5
Xu, S.6
Chen, S.7
Zack, D.J.8
Sieving, P.A.9
-
41
-
-
21044452878
-
Heterozygous mutations of OTX2 cause severe ocular malformations
-
10.1086/430721. 15846561
-
Heterozygous mutations of OTX2 cause severe ocular malformations. Ragge NK Brown AG Poloschek CM Lorenz B, Henderson RA Clarke MP, Russell-Eggitt I Fielder A, Gerrelli D Martinez-Barbera JP, Ruddle P Hurst J, Collin JR Salt A, Cooper ST Thompson PJ, Sisodiya SM Williamson KA, Fitzpatrick DR van Heyningen V, Hanson IM, Am J Hum Genet 2005 76 6 1008 1022 10.1086/430721 15846561
-
(2005)
Am J Hum Genet
, vol.76
, Issue.6
, pp. 1008-1022
-
-
Ragge, N.K.1
Brown, A.G.2
Poloschek, C.M.3
Lorenz, B.4
Henderson, R.A.5
Clarke, M.P.6
Russell-Eggitt, I.7
Fielder, A.8
Gerrelli, D.9
Martinez-Barbera, J.P.10
Ruddle, P.11
Hurst, J.12
Collin, J.R.13
Salt, A.14
Cooper, S.T.15
Thompson, P.J.16
Sisodiya, S.M.17
Williamson, K.A.18
Fitzpatrick, D.R.19
Van Heyningen, V.20
Hanson, I.M.21
more..
-
42
-
-
0036963699
-
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature
-
10.1210/jc.87.3.1402. 11889216
-
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. Rappold GA Fukami M Niesler B Schiller S, Zumkeller W Bettendorf M, Heinrich U Vlachopapadoupoulou E, Reinehr T Onigata K, Ogata T, J Clin Endocrinol Metab 2002 87 3 1402 1406 10.1210/jc.87.3.1402 11889216
-
(2002)
J Clin Endocrinol Metab
, vol.87
, Issue.3
, pp. 1402-1406
-
-
Rappold, G.A.1
Fukami, M.2
Niesler, B.3
Schiller, S.4
Zumkeller, W.5
Bettendorf, M.6
Heinrich, U.7
Vlachopapadoupoulou, E.8
Reinehr, T.9
Onigata, K.10
Ogata, T.11
-
43
-
-
4544383265
-
SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: Prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity
-
10.1210/jc.2004-0591. 15356038
-
SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity. Binder G Renz A Martinez A Keselman A, Hesse V Riedl SW, Hausler G Fricke-Otto S, Frisch H Heinrich JJ, Ranke MB, J Clin Endocrinol Metab 2004 89 9 4403 4408 10.1210/jc.2004-0591 15356038
-
(2004)
J Clin Endocrinol Metab
, vol.89
, Issue.9
, pp. 4403-4408
-
-
Binder, G.1
Renz, A.2
Martinez, A.3
Keselman, A.4
Hesse, V.5
Riedl, S.W.6
Hausler, G.7
Fricke-Otto, S.8
Frisch, H.9
Heinrich, J.J.10
Ranke, M.B.11
-
44
-
-
0031798919
-
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations
-
10.1007/s004390050732. 9654197
-
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. DeStefano AL Cupples LA Arnos KS Asher JH Jr, Baldwin CT Blanton S, Carey ML da Silva EO, Friedman TB Greenberg J, Lalwani AK Milunsky A, Nance WE Pandya A, Ramesar RS Read AP, Tassabejhi M Wilcox ER, Farrer LA, Hum Genet 1998 102 5 499 506 10.1007/s004390050732 9654197
-
(1998)
Hum Genet
, vol.102
, Issue.5
, pp. 499-506
-
-
Destefano, A.L.1
Cupples, L.A.2
Arnos, K.S.3
Asher Jr., J.H.4
Baldwin, C.T.5
Blanton, S.6
Carey, M.L.7
Da Silva, E.O.8
Friedman, T.B.9
Greenberg, J.10
Lalwani, A.K.11
Milunsky, A.12
Nance, W.E.13
Pandya, A.14
Ramesar, R.S.15
Read, A.P.16
Tassabejhi, M.17
Wilcox, E.R.18
Farrer, L.A.19
-
45
-
-
0028972923
-
The mutational spectrum in Waardenburg syndrome
-
10.1093/hmg/4.11.2131. 8589691
-
The mutational spectrum in Waardenburg syndrome. Tassabehji M Newton VE, Liu XZ Brady A, Donnai D Krajewska-Walasek M, Murday V Norman A, Obersztyn E Reardon W, et al. Hum Mol Genet 1995 4 11 2131 2137 10.1093/hmg/4.11.2131 8589691
-
(1995)
Hum Mol Genet
, vol.4
, Issue.11
, pp. 2131-2137
-
-
Tassabehji, M.1
Newton, V.E.2
Liu, X.Z.3
Brady, A.4
Donnai, D.5
Krajewska-Walasek, M.6
Murday, V.7
Norman, A.8
Obersztyn, E.9
Reardon, W.10
-
46
-
-
0032408024
-
Molecular genetic study of the PAX6 gene in aniridia patients
-
10.1007/s003470050361. 10025146
-
Molecular genetic study of the PAX6 gene in aniridia patients. Wolf M Zabel B Lorenz B Blankenagel A, Ghorbani MB Schwenn O, Wildhardt G, Ophthalmologe 1998 95 12 828 830 10.1007/s003470050361 10025146
-
(1998)
Ophthalmologe
, vol.95
, Issue.12
, pp. 828-830
-
-
Wolf, M.1
Zabel, B.2
Lorenz, B.3
Blankenagel, A.4
Ghorbani, M.B.5
Schwenn, O.6
Wildhardt, G.7
-
47
-
-
0032903663
-
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype
-
10.1038/sj.ejhg.5200308. 10234503
-
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. Gronskov K Rosenberg T, Sand A Brondum-Nielsen K, Eur J Hum Genet 1999 7 3 274 286 10.1038/sj.ejhg.5200308 10234503
-
(1999)
Eur J Hum Genet
, vol.7
, Issue.3
, pp. 274-286
-
-
Gronskov, K.1
Rosenberg, T.2
Sand, A.3
Brondum-Nielsen, K.4
-
48
-
-
21444446875
-
Homeodomain revisited: A lesson from disease-causing mutations
-
10.1007/s00439-004-1252-1. 15726414
-
Homeodomain revisited: a lesson from disease-causing mutations. Chi YI, Hum Genet 2005 116 6 433 444 10.1007/s00439-004-1252-1 15726414
-
(2005)
Hum Genet
, vol.116
, Issue.6
, pp. 433-444
-
-
Chi, Y.I.1
-
49
-
-
0033867411
-
Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations
-
10937553
-
Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Perveen R Lloyd IC, Clayton-Smith J Churchill A, van Heyningen V Hanson I, Taylor D McKeown C, Super M Kerr B, Winter R Black GC, Invest Ophthalmol Vis Sci 2000 41 9 2456 2460 10937553
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, Issue.9
, pp. 2456-2460
-
-
Perveen, R.1
Lloyd, I.C.2
Clayton-Smith, J.3
Churchill, A.4
Van Heyningen, V.5
Hanson, I.6
Taylor, D.7
McKeown, C.8
Super, M.9
Kerr, B.10
Winter, R.11
Black, G.C.12
-
50
-
-
0036972161
-
Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome
-
10.1159/000065602. 12381896
-
Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome. Phillips JC, Ophthalmic Res 2002 34 5 324 326 10.1159/000065602 12381896
-
(2002)
Ophthalmic Res
, vol.34
, Issue.5
, pp. 324-326
-
-
Phillips, J.C.1
-
51
-
-
0032561414
-
Human Prop-1: Cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency
-
10.1016/S0014-5793(98)01234-4. 9824293
-
Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. Duquesnoy P Roy A Dastot F Ghali I, Teinturier C Netchine I, Cacheux V Hafez M, Salah N Chaussain JL, Goossens M Bougnères P, Amselem S, FEBS Lett 1998 437 3 216 220 10.1016/S0014- 5793(98)01234-4 9824293
-
(1998)
FEBS Lett
, vol.437
, Issue.3
, pp. 216-220
-
-
Duquesnoy, P.1
Roy, A.2
Dastot, F.3
Ghali, I.4
Teinturier, C.5
Netchine, I.6
Cacheux, V.7
Hafez, M.8
Salah, N.9
Chaussain, J.L.10
Goossens, M.11
Bougnères, P.12
Amselem, S.13
-
52
-
-
17344371881
-
Mutations in PROP1 cause familial combined pituitary hormone deficiency
-
10.1038/ng0298-147. 9462743
-
Mutations in PROP1 cause familial combined pituitary hormone deficiency. Wu W Cogan JD, Pfaffle RW Dasen JS, Frisch H O'Connell SM, Flynn SE Brown MR, Mullis PE Parks JS, Phillips JA Rosenfeld MG, Nat Genet 1998 18 2 147 149 10.1038/ng0298-147 9462743
-
(1998)
Nat Genet
, vol.18
, Issue.2
, pp. 147-149
-
-
Wu, W.1
Cogan, J.D.2
Pfaffle, R.W.3
Dasen, J.S.4
Frisch, H.5
O'Connell, S.M.6
Flynn, S.E.7
Brown, M.R.8
Mullis, P.E.9
Parks, J.S.10
Phillips, J.A.11
Rosenfeld, M.G.12
-
53
-
-
17944378172
-
PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency
-
10.1210/jc.86.9.4529. 11549703
-
PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency. Vallette-Kasic S Barlier A Teinturier C Diaz A, Manavela M Berthezene F, Bouchard P Chaussain JL, Brauner R Pellegrini-Bouiller I, Jaquet P Enjalbert A, Brue T, J Clin Endocrinol Metab 2001 86 9 4529 4535 10.1210/jc.86.9.4529 11549703
-
(2001)
J Clin Endocrinol Metab
, vol.86
, Issue.9
, pp. 4529-4535
-
-
Vallette-Kasic, S.1
Barlier, A.2
Teinturier, C.3
Diaz, A.4
Manavela, M.5
Berthezene, F.6
Bouchard, P.7
Chaussain, J.L.8
Brauner, R.9
Pellegrini-Bouiller, I.10
Jaquet, P.11
Enjalbert, A.12
Brue, T.13
-
54
-
-
0036423939
-
The spectrum of hypopituitarism caused by PROP1 mutations
-
10.1053/beem.2002.0218. 12464226
-
The spectrum of hypopituitarism caused by PROP1 mutations. Mody S Brown MR Parks JS, Best Pract Res Clin Endocrinol Metab 2002 16 3 421 431 10.1053/beem.2002.0218 12464226
-
(2002)
Best Pract Res Clin Endocrinol Metab
, vol.16
, Issue.3
, pp. 421-431
-
-
Mody, S.1
Brown, M.R.2
Parks, J.S.3
-
55
-
-
22144457621
-
Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis
-
10.1002/humu.20187. 15931687
-
Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis. Schneider KU Marchini A, Sabherwal N Roth R, Niesler B Marttila T, Blaschke RJ Lawson M, Dumic M Rappold G, Hum Mutat 2005 26 1 44 52 10.1002/humu.20187 15931687
-
(2005)
Hum Mutat
, vol.26
, Issue.1
, pp. 44-52
-
-
Schneider, K.U.1
Marchini, A.2
Sabherwal, N.3
Roth, R.4
Niesler, B.5
Marttila, T.6
Blaschke, R.J.7
Lawson, M.8
Dumic, M.9
Rappold, G.10
-
56
-
-
56049110230
-
Identification of Arx transcriptional targets in the developing basal forebrain
-
10.1093/hmg/ddn271. 18799476
-
Identification of Arx transcriptional targets in the developing basal forebrain. Fulp CT Cho G, Marsh ED Nasrallah IM, Labosky PA Golden JA, Hum Mol Genet 2008 17 23 3740 3760 10.1093/hmg/ddn271 18799476
-
(2008)
Hum Mol Genet
, vol.17
, Issue.23
, pp. 3740-3760
-
-
Fulp, C.T.1
Cho, G.2
Marsh, E.D.3
Nasrallah, I.M.4
Labosky, P.A.5
Golden, J.A.6
-
57
-
-
19244375809
-
Doublecortin mutations cluster in evolutionarily conserved functional domains
-
10.1093/hmg/9.5.703. 10749977
-
Doublecortin mutations cluster in evolutionarily conserved functional domains. Sapir T Horesh D Caspi M Atlas R, Burgess HA Wolf SG, Francis F Chelly J, Elbaum M Pietrokovski S, Reiner O, Hum Mol Genet 2000 9 5 703 712 10.1093/hmg/9.5.703 10749977
-
(2000)
Hum Mol Genet
, vol.9
, Issue.5
, pp. 703-712
-
-
Sapir, T.1
Horesh, D.2
Caspi, M.3
Atlas, R.4
Burgess, H.A.5
Wolf, S.G.6
Francis, F.7
Chelly, J.8
Elbaum, M.9
Pietrokovski, S.10
Reiner, O.11
-
58
-
-
54049085347
-
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations
-
10.1136/jmg.2008.058073. 18728072
-
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. Bahi-Buisson N Poirier K, Boddaert N Saillour Y, Castelnau L Philip N, Buyse G Villard L, Joriot S Marret S, Bourgeois M Van Esch H, Lagae L Amiel J, Hertz-Pannier L Roubertie A, Rivier F Pinard JM, Beldjord C Chelly J, J Med Genet 2008 45 10 647 653 10.1136/jmg.2008.058073 18728072
-
(2008)
J Med Genet
, vol.45
, Issue.10
, pp. 647-653
-
-
Bahi-Buisson, N.1
Poirier, K.2
Boddaert, N.3
Saillour, Y.4
Castelnau, L.5
Philip, N.6
Buyse, G.7
Villard, L.8
Joriot, S.9
Marret, S.10
Bourgeois, M.11
Van Esch, H.12
Lagae, L.13
Amiel, J.14
Hertz-Pannier, L.15
Roubertie, A.16
Rivier, F.17
Pinard, J.M.18
Beldjord, C.19
Chelly, J.20
more..
-
59
-
-
41649093538
-
A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB
-
10.1091/mbc.E07-09-0861. 18199681
-
A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB. Tian G Kong XP, Jaglin XH Chelly J, Keays D Cowan NJ, Mol Biol Cell 2008 19 3 1152 1161 10.1091/mbc.E07-09-0861 18199681
-
(2008)
Mol Biol Cell
, vol.19
, Issue.3
, pp. 1152-1161
-
-
Tian, G.1
Kong, X.P.2
Jaglin, X.H.3
Chelly, J.4
Keays, D.5
Cowan, N.J.6
-
60
-
-
46249113438
-
The RanGTP gradient - A GPS for the mitotic spindle
-
10.1242/jcs.005959. 18469014
-
The RanGTP gradient - a GPS for the mitotic spindle. Kalab P Heald R, J Cell Sci 2008 121 Pt 10 1577 1586 10.1242/jcs.005959 18469014
-
(2008)
J Cell Sci
, vol.121
, Issue.PT 10
, pp. 1577-1586
-
-
Kalab, P.1
Heald, R.2
|