-
1
-
-
0036250571
-
From sequence to phenotype: Reverse genetics in Drosophila melanogaster
-
Adams MD, Sekelsky JJ: From sequence to phenotype: reverse genetics in Drosophila melanogaster. Nat Rev Genet 3:189-198 (2002).
-
(2002)
Nat Rev Genet
, vol.3
, pp. 189-198
-
-
Adams, M.D.1
Sekelsky, J.J.2
-
2
-
-
0028246435
-
Fmr1 knockout mice - a model to study fragile-X mental-retardation
-
Bakker CE, Verheij C, Willemsen R, Vanderhelm R, Oerlemans F, et al: Fmr1 knockout mice - a model to study fragile-X mental-retardation. Cell 78:23-33 (1994).
-
(1994)
Cell
, vol.78
, pp. 23-33
-
-
Bakker, C.E.1
Verheij, C.2
Willemsen, R.3
Vanderhelm, R.4
Oerlemans, F.5
-
3
-
-
23944447954
-
X chromosome array-CGH for the identification of novel X-linked mental retardation genes
-
Bauters M, Van Esch H, Marynen P, Froyen G: X chromosome array-CGH for the identification of novel X-linked mental retardation genes. Eur J Med Genet 48:263-275 (2005).
-
(2005)
Eur J Med Genet
, vol.48
, pp. 263-275
-
-
Bauters, M.1
Van Esch, H.2
Marynen, P.3
Froyen, G.4
-
4
-
-
44849143972
-
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
-
Bauters M, Van EH, Friez MJ, Boespflug-Tanguy O, Zenker M, et al: Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res 18:847-858 (2008).
-
(2008)
Genome Res
, vol.18
, pp. 847-858
-
-
Bauters, M.1
Van, E.H.2
Friez, M.J.3
Boespflug-Tanguy, O.4
Zenker, M.5
-
5
-
-
27644468421
-
Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies
-
Bhat SS, Schmidt KR, Ladd S, Kim KC, Schwartz CE, et al: Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies. Cytogenet Genome Res 112:170-175 (2006).
-
(2006)
Cytogenet Genome Res
, vol.112
, pp. 170-175
-
-
Bhat, S.S.1
Schmidt, K.R.2
Ladd, S.3
Kim, K.C.4
Schwartz, C.E.5
-
6
-
-
0035913909
-
Regulating axon branch stability: The role of p190 RhoGAP in repressing a retraction signaling pathway
-
Billuart P, Winter CG, Maresh A, Zhao X, Luo L: Regulating axon branch stability: the role of p190 RhoGAP in repressing a retraction signaling pathway. Cell 107:195-207 (2001).
-
(2001)
Cell
, vol.107
, pp. 195-207
-
-
Billuart, P.1
Winter, C.G.2
Maresh, A.3
Zhao, X.4
Luo, L.5
-
7
-
-
33748641720
-
Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: Phenotypic and molecular characterization
-
Bonnet C, Gregoire MJ, Brochet K, Raffo E, Leheup B, Jonveaux P: Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization. J Hum Genet 51:815-821 (2006).
-
(2006)
J Hum Genet
, vol.51
, pp. 815-821
-
-
Bonnet, C.1
Gregoire, M.J.2
Brochet, K.3
Raffo, E.4
Leheup, B.5
Jonveaux, P.6
-
8
-
-
0027160708
-
Targeted gene expression as a means of altering cell fates and generating dominant phenotypes
-
Brand AH, Perrimon N: Targeted gene expression as a means of altering cell fates and generating dominant phenotypes. Development 118:401-415 (1993).
-
(1993)
Development
, vol.118
, pp. 401-415
-
-
Brand, A.H.1
Perrimon, N.2
-
9
-
-
0029786931
-
Single-copy transgenic mice with chosen-site integration
-
Bronson SK, Plaehn EG, Kluckman KD, Hagaman JR, Maeda N, Smithies O: Single-copy transgenic mice with chosen-site integration. Proc Natl Acad Sci USA 93:067-9072 (1996).
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 067-9072
-
-
Bronson, S.K.1
Plaehn, E.G.2
Kluckman, K.D.3
Hagaman, J.R.4
Maeda, N.5
Smithies, O.6
-
10
-
-
15244353967
-
X-inactivation profile reveals extensive variability in X-linked gene expression in females
-
Carrel L, Willard HF: X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434:400-404 (2005).
-
(2005)
Nature
, vol.434
, pp. 400-404
-
-
Carrel, L.1
Willard, H.F.2
-
11
-
-
34748831111
-
MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number
-
Chao HT, Zoghbi HY, Rosenmund C: MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron 56:58-65 (2007).
-
(2007)
Neuron
, vol.56
, pp. 58-65
-
-
Chao, H.T.1
Zoghbi, H.Y.2
Rosenmund, C.3
-
12
-
-
0035804765
-
Fragile X mice develop sensory hyperreactivity to auditory stimuli
-
Chen L, Toth M: Fragile X mice develop sensory hyperreactivity to auditory stimuli. Neuroscience 103:1043-1050 (2001).
-
(2001)
Neuroscience
, vol.103
, pp. 1043-1050
-
-
Chen, L.1
Toth, M.2
-
13
-
-
0035093830
-
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
-
Chen RZ, Akbarian S, Tudor M, Jaenisch R: Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet 27:327-331 (2001).
-
(2001)
Nat Genet
, vol.27
, pp. 327-331
-
-
Chen, R.Z.1
Akbarian, S.2
Tudor, M.3
Jaenisch, R.4
-
15
-
-
33644849965
-
Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers
-
Chocholska S, Rossier E, Barbi G, Kehrer-Sawatzki H: Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers. Am J Med Genet A 140:604-610 (2006).
-
(2006)
Am J Med Genet A
, vol.140
, pp. 604-610
-
-
Chocholska, S.1
Rossier, E.2
Barbi, G.3
Kehrer-Sawatzki, H.4
-
16
-
-
8444253290
-
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
-
Collins AL, Levenson JM, Vilaythong AP, Richman R, Armstrong DL, et al: Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet 13:2679-2689 (2004).
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2679-2689
-
-
Collins, A.L.1
Levenson, J.M.2
Vilaythong, A.P.3
Richman, R.4
Armstrong, D.L.5
-
17
-
-
40849132907
-
Behavioral phenotyping strategies for mutant mice
-
Crawley JN: Behavioral phenotyping strategies for mutant mice. Neuron 57:809-818 (2008).
-
(2008)
Neuron
, vol.57
, pp. 809-818
-
-
Crawley, J.N.1
-
18
-
-
17344369362
-
Mutations in GDI1 are responsible for X-linked non-specific mental retardation
-
D'Adamo P, Menegon A, Lo NC, Grasso M, Gulisano M, et al: Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nat Genet 19:134-139 (1998).
-
(1998)
Nat Genet
, vol.19
, pp. 134-139
-
-
D'Adamo, P.1
Menegon, A.2
Lo, N.C.3
Grasso, M.4
Gulisano, M.5
-
19
-
-
0036798191
-
Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice
-
D'Adamo P, Welzl H, Papadimitriou S, Raffaele DB, Tiveron C, et al: Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice. Hum Mol Genet 11:2567-2580 (2002).
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2567-2580
-
-
D'Adamo, P.1
Welzl, H.2
Papadimitriou, S.3
Raffaele, D.B.4
Tiveron, C.5
-
20
-
-
33847729536
-
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium
-
de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, et al: Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat 28:207-208 (2007).
-
(2007)
Hum Mutat
, vol.28
, pp. 207-208
-
-
de Brouwer, A.P.1
Yntema, H.G.2
Kleefstra, T.3
Lugtenberg, D.4
Oudakker, A.R.5
-
22
-
-
25444432040
-
Diagnostic genome profiling in mental retardation
-
de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, et al: Diagnostic genome profiling in mental retardation. Am J Hum Genet 77:606-616 (2005).
-
(2005)
Am J Hum Genet
, vol.77
, pp. 606-616
-
-
de Vries, B.B.1
Pfundt, R.2
Leisink, M.3
Koolen, D.A.4
Vissers, L.E.5
-
23
-
-
33749081269
-
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
-
del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, et al: Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med 8:784-792 (2006).
-
(2006)
Genet Med
, vol.8
, pp. 784-792
-
-
del Gaudio, D.1
Fang, P.2
Scaglia, F.3
Ward, P.A.4
Craigen, W.J.5
-
24
-
-
0037071905
-
Drosophila lacking dfmr1 activity show defects in circadian output and fail to maintain courtship interest
-
Dockendorff TC, Su HS, McBride SM, Yang Z, Choi CH, et al: Drosophila lacking dfmr1 activity show defects in circadian output and fail to maintain courtship interest. Neuron 34:73-984 (2002).
-
(2002)
Neuron
, vol.34
, pp. 73-984
-
-
Dockendorff, T.C.1
Su, H.S.2
McBride, S.M.3
Yang, Z.4
Choi, C.H.5
-
25
-
-
35649021296
-
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization
-
Fan YS, Jayakar P, Zhu H, Barbouth D, Sacharow S, et al: Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. Hum Mutat 28:1124-1132 (2007).
-
(2007)
Hum Mutat
, vol.28
, pp. 1124-1132
-
-
Fan, Y.S.1
Jayakar, P.2
Zhu, H.3
Barbouth, D.4
Sacharow, S.5
-
26
-
-
33748644928
-
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
-
Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, et al: Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 79:500-513 (2006).
-
(2006)
Am J Hum Genet
, vol.79
, pp. 500-513
-
-
Friedman, J.M.1
Baross, A.2
Delaney, A.D.3
Ally, A.4
Arbour, L.5
-
27
-
-
33845772985
-
Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28
-
Friez MJ, Jones JR, Clarkson K, Lubs H, Abuelo D, et al: Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics 118:e1687-e1695 (2006).
-
(2006)
Pediatrics
, vol.118
-
-
Friez, M.J.1
Jones, J.R.2
Clarkson, K.3
Lubs, H.4
Abuelo, D.5
-
28
-
-
34248221547
-
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region
-
Froyen G, Bauters M, Boyle J, Van Esch H, Govaerts K, et al: Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region. Hum Genet 121:539-547 (2007a).
-
(2007)
Hum Genet
, vol.121
, pp. 539-547
-
-
Froyen, G.1
Bauters, M.2
Boyle, J.3
Van Esch, H.4
Govaerts, K.5
-
29
-
-
34948899272
-
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: Important role for increased gene dosage of XLMR genes
-
Froyen G, Van Esch H, Bauters M, Hollanders K, Frints SG, et al: Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. Hum Mutat 28:1034-1042 (2007b).
-
(2007)
Hum Mutat
, vol.28
, pp. 1034-1042
-
-
Froyen, G.1
Van Esch, H.2
Bauters, M.3
Hollanders, K.4
Frints, S.G.5
-
30
-
-
40749130484
-
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
-
Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, et al: Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet 82:432-443 (2008).
-
(2008)
Am J Hum Genet
, vol.82
, pp. 432-443
-
-
Froyen, G.1
Corbett, M.2
Vandewalle, J.3
Jarvela, I.4
Lawrence, O.5
-
31
-
-
0033843150
-
A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation
-
Fukami M, Kirsch S, Schiller S, Richter A, Benes V, et al: A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. Am J Hum Genet 67:563-573 (2000).
-
(2000)
Am J Hum Genet
, vol.67
, pp. 563-573
-
-
Fukami, M.1
Kirsch, S.2
Schiller, S.3
Richter, A.4
Benes, V.5
-
32
-
-
2542441563
-
The molecular basis of intellectual disability: Novel genes with naturally occurring mutations causing altered gene expression in the brain
-
Gecz J: The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brain. Front Biosci 9:1-7 (2004).
-
(2004)
Front Biosci
, vol.9
, pp. 1-7
-
-
Gecz, J.1
-
33
-
-
0035080494
-
Size matters: Use of YACs, BACs and PACs in transgenic animals
-
Giraldo P, Montoliu L: Size matters: use of YACs, BACs and PACs in transgenic animals. Transgenic Res 10:83-103 (2001).
-
(2001)
Transgenic Res
, vol.10
, pp. 83-103
-
-
Giraldo, P.1
Montoliu, L.2
-
34
-
-
1842455769
-
The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis
-
Govek EE, Newey SE, Akerman CJ, Cross JR, Van der Veken L, Van Aelst L: The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis. Nat Neurosci 7:364-372 (2004).
-
(2004)
Nat Neurosci
, vol.7
, pp. 364-372
-
-
Govek, E.E.1
Newey, S.E.2
Akerman, C.J.3
Cross, J.R.4
Van der Veken, L.5
Van Aelst, L.6
-
35
-
-
0035094767
-
-
Guy J, Hendrich B, Holmes M, Martin JE, Bird A: A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 27:322-326 (2001).
-
Guy J, Hendrich B, Holmes M, Martin JE, Bird A: A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 27:322-326 (2001).
-
-
-
-
36
-
-
36348971669
-
Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband
-
Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, et al: Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. Eur J Hum Genet 15:1218-1229 (2007).
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 1218-1229
-
-
Hardwick, S.A.1
Reuter, K.2
Williamson, S.L.3
Vasudevan, V.4
Donald, J.5
-
37
-
-
2942583823
-
Altered cortical synaptic morphology and impaired memory consolidation in forebrain-specific dominant-negative PAK transgenic mice
-
Hayashi ML, Choi SY, Rao BSS, Jung HY, Lee HK, et al: Altered cortical synaptic morphology and impaired memory consolidation in forebrain-specific dominant-negative PAK transgenic mice. Neuron 42:773-787 (2004).
-
(2004)
Neuron
, vol.42
, pp. 773-787
-
-
Hayashi, M.L.1
Choi, S.Y.2
Rao, B.S.S.3
Jung, H.Y.4
Lee, H.K.5
-
38
-
-
34247570536
-
Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis
-
Hayashi S, Honda S, Minaguchi M, Makita Y, Okamoto N, et al: Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis. J Hum Genet 52:397-405 (2007).
-
(2007)
J Hum Genet
, vol.52
, pp. 397-405
-
-
Hayashi, S.1
Honda, S.2
Minaguchi, M.3
Makita, Y.4
Okamoto, N.5
-
39
-
-
33747187030
-
Artificial chromosome-based transgenes in the study of genome function
-
Heaney JD, Bronson SK: Artificial chromosome-based transgenes in the study of genome function. Mamm Genome 17:791-807 (2006).
-
(2006)
Mamm Genome
, vol.17
, pp. 791-807
-
-
Heaney, J.D.1
Bronson, S.K.2
-
40
-
-
0033603254
-
Pak functions downstream of Dock to regulate photoreceptor axon guidance in Drosophila
-
Hing H, Xiao J, Harden N, Lim L, Zipursky SL: Pak functions downstream of Dock to regulate photoreceptor axon guidance in Drosophila. Cell 97:853-863 (1999).
-
(1999)
Cell
, vol.97
, pp. 853-863
-
-
Hing, H.1
Xiao, J.2
Harden, N.3
Lim, L.4
Zipursky, S.L.5
-
41
-
-
34247271844
-
Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene
-
Honda S, Hayashi S, Kato M, Niida Y, Hayasaka K, et al: Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene. Am J Med Genet A 143:687-693 (2007).
-
(2007)
Am J Med Genet A
, vol.143
, pp. 687-693
-
-
Honda, S.1
Hayashi, S.2
Kato, M.3
Niida, Y.4
Hayasaka, K.5
-
42
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, et al: Detection of large-scale variation in the human genome. Nat Genet 36:49-951 (2004).
-
(2004)
Nat Genet
, vol.36
, pp. 49-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
-
43
-
-
1642376040
-
Molecular and comparative genetics of mental retardation
-
Inlow JK, Restifo LL: Molecular and comparative genetics of mental retardation. Genetics 166:835-881 (2004).
-
(2004)
Genetics
, vol.166
, pp. 835-881
-
-
Inlow, J.K.1
Restifo, L.L.2
-
44
-
-
28444498141
-
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome
-
Jehee FS, Rosenberg C, Krepischi-Santos AC, Kok F, Knijnenburg J, et al: An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. Am J Med Genet A 139:221-226 (2005).
-
(2005)
Am J Med Genet A
, vol.139
, pp. 221-226
-
-
Jehee, F.S.1
Rosenberg, C.2
Krepischi-Santos, A.C.3
Kok, F.4
Knijnenburg, J.5
-
45
-
-
33845526951
-
X-linked mental retardation: A comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11
-
Jensen LR, Lenzner S, Moser B, Freude K, Tzschach A, et al: X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. Eur J Hum Genet 15:68-75 (2007).
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 68-75
-
-
Jensen, L.R.1
Lenzner, S.2
Moser, B.3
Freude, K.4
Tzschach, A.5
-
46
-
-
17444365101
-
Increased dendritic complexity and axonal length in cultured mouse cortical neurons overexpressing methyl-CpG-binding protein MeCP2
-
Jugloff DG, Jung BP, Purushotham D, Logan R, Eubanks JH: Increased dendritic complexity and axonal length in cultured mouse cortical neurons overexpressing methyl-CpG-binding protein MeCP2. Neurobiol Dis 19:18-27 (2005).
-
(2005)
Neurobiol Dis
, vol.19
, pp. 18-27
-
-
Jugloff, D.G.1
Jung, B.P.2
Purushotham, D.3
Logan, R.4
Eubanks, J.H.5
-
47
-
-
0035908996
-
NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation
-
Jun L, Frints SGM, Duhamel H, Herold A, Abad-Rodrigues J, et al: NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation. Curr Biol 11:1381-1391 (2001).
-
(2001)
Curr Biol
, vol.11
, pp. 1381-1391
-
-
Jun, L.1
Frints, S.G.M.2
Duhamel, H.3
Herold, A.4
Abad-Rodrigues, J.5
-
48
-
-
34548864370
-
Culturing hippocampal neurons
-
Kaech S, Banker G: Culturing hippocampal neurons. Nat Protoc 1:2406-2415 (2006).
-
(2006)
Nat Protoc
, vol.1
, pp. 2406-2415
-
-
Kaech, S.1
Banker, G.2
-
49
-
-
34548450836
-
Loss of X-linked mental retardation gene oligophrenin 1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity
-
Khelfaoui M, Denis C, van Galen E, de Bock F, Schmitt A, et al: Loss of X-linked mental retardation gene oligophrenin 1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity. J Neurosci 27:439-9450 (2007).
-
(2007)
J Neurosci
, vol.27
, pp. 439-9450
-
-
Khelfaoui, M.1
Denis, C.2
van Galen, E.3
de Bock, F.4
Schmitt, A.5
-
50
-
-
19944399746
-
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)
-
Koolen DA, Nillesen WM, Versteeg MH, Merkx GF, Knoers NV, et al: Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet 41:892-899 (2004).
-
(2004)
J Med Genet
, vol.41
, pp. 892-899
-
-
Koolen, D.A.1
Nillesen, W.M.2
Versteeg, M.H.3
Merkx, G.F.4
Knoers, N.V.5
-
51
-
-
36448970896
-
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
-
Kousoulidou L, Parkel S, Zilina O, Palta P, Puusepp H, et al: Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. Eur J Med Genet 50:399-410 (2007).
-
(2007)
Eur J Med Genet
, vol.50
, pp. 399-410
-
-
Kousoulidou, L.1
Parkel, S.2
Zilina, O.3
Palta, P.4
Puusepp, H.5
-
52
-
-
33846619125
-
The role of neuronal complexes in human X-linked brain diseases
-
Laumonnier F, Cuthbert PC, Grant SG: The role of neuronal complexes in human X-linked brain diseases. Am J Hum Genet 80:205-220 (2007).
-
(2007)
Am J Hum Genet
, vol.80
, pp. 205-220
-
-
Laumonnier, F.1
Cuthbert, P.C.2
Grant, S.G.3
-
53
-
-
42649125261
-
Familial deletion within NLGN4 associated with autism and Tourette syndrome
-
Lawson-Yuen A, Saldivar JS, Sommer S, Picker J: Familial deletion within NLGN4 associated with autism and Tourette syndrome. Eur J Hum Genet 16:614-618 (2008).
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 614-618
-
-
Lawson-Yuen, A.1
Saldivar, J.S.2
Sommer, S.3
Picker, J.4
-
54
-
-
0345308602
-
Control of dendritic development by the Drosophila fragile X-related gene involves the small GTPase Rac1
-
Lee A, Li W, Xu K, Bogert BA, Su K, Gao FB: Control of dendritic development by the Drosophila fragile X-related gene involves the small GTPase Rac1. Development 130:5543-5552 (2003).
-
(2003)
Development
, vol.130
, pp. 5543-5552
-
-
Lee, A.1
Li, W.2
Xu, K.3
Bogert, B.A.4
Su, K.5
Gao, F.B.6
-
55
-
-
33845987088
-
A fruitfly's guide to keeping the brain wired
-
Leyssen M, Hassan BA: A fruitfly's guide to keeping the brain wired. EMBO Rep 8:46-50 (2007).
-
(2007)
EMBO Rep
, vol.8
, pp. 46-50
-
-
Leyssen, M.1
Hassan, B.A.2
-
56
-
-
0037472695
-
Chromosome-based vectors for gene therapy
-
Lipps HJ, Jenke AC, Nehlsen K, Scinteie MF, Stehle IM, Bode J: Chromosome-based vectors for gene therapy. Gene 304:23-33 (2003).
-
(2003)
Gene
, vol.304
, pp. 23-33
-
-
Lipps, H.J.1
Jenke, A.C.2
Nehlsen, K.3
Scinteie, M.F.4
Stehle, I.M.5
Bode, J.6
-
57
-
-
34249717942
-
-
PLoS
-
Lu X, Shaw CA, Patel A, Li J, Cooper ML, et al: Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS ONE 2:e327 (2007).
-
(2007)
Clinical implementation of chromosomal microarray analysis: Summary of 2513 postnatal cases
, vol.ONE 2
-
-
Lu, X.1
Shaw, C.A.2
Patel, A.3
Li, J.4
Cooper, M.L.5
-
58
-
-
33645798271
-
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH
-
Lugtenberg D, de Brouwer AP, Kleefstra T, Oudakker AR, Frints SG, et al: Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. J Med Genet 43:362-370 (2006a).
-
(2006)
J Med Genet
, vol.43
, pp. 362-370
-
-
Lugtenberg, D.1
de Brouwer, A.P.2
Kleefstra, T.3
Oudakker, A.R.4
Frints, S.G.5
-
59
-
-
31544453949
-
ZNF674: A new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation
-
Lugtenberg D, Yntema HG, Banning MJ, Oudakker AR, Firth HV, et al: ZNF674: A new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Am J Hum Genet 78:265-278 (2006b).
-
(2006)
Am J Hum Genet
, vol.78
, pp. 265-278
-
-
Lugtenberg, D.1
Yntema, H.G.2
Banning, M.J.3
Oudakker, A.R.4
Firth, H.V.5
-
60
-
-
33947668880
-
Deletions of VCX-A and NLGN4 : A variable phenotype including normal intellect
-
Macarov M, Zeigler M, Newman JP, Strich D, Sury V, et al: Deletions of VCX-A and NLGN4 : a variable phenotype including normal intellect. J Intellect Disabil Res 51:329-333 (2007).
-
(2007)
J Intellect Disabil Res
, vol.51
, pp. 329-333
-
-
Macarov, M.1
Zeigler, M.2
Newman, J.P.3
Strich, D.4
Sury, V.5
-
61
-
-
41449113254
-
X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation
-
Madrigal I, Rodriguez-Revenga L, Armengol L, Gonzalez E, Rodriguez B, et al: X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. BMC Genomics 8:443 (2007a).
-
(2007)
BMC Genomics
, vol.8
, pp. 443
-
-
Madrigal, I.1
Rodriguez-Revenga, L.2
Armengol, L.3
Gonzalez, E.4
Rodriguez, B.5
-
62
-
-
33847050525
-
MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation
-
Madrigal I, Rodriguez-Revenga L, Badenas C, Sanchez A, Martinez F, et al: MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation. Genet Med 9:117-122 (2007b).
-
(2007)
Genet Med
, vol.9
, pp. 117-122
-
-
Madrigal, I.1
Rodriguez-Revenga, L.2
Badenas, C.3
Sanchez, A.4
Martinez, F.5
-
63
-
-
4644244222
-
Monogenic X-linked mental retardation: Is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations
-
Mandel JL, Chelly J: Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. Eur J Hum Genet 12:689-693 (2004).
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 689-693
-
-
Mandel, J.L.1
Chelly, J.2
-
64
-
-
36348952549
-
The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient
-
Marques Pereira P, Heron D, Hanauer A: The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient. Hum Genet 122:541-543 (2007).
-
(2007)
Hum Genet
, vol.122
, pp. 541-543
-
-
Marques Pereira, P.1
Heron, D.2
Hanauer, A.3
-
65
-
-
20044388322
-
Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome
-
McBride SM, Choi CH, Wang Y, Liebelt D, Braunstein E, et al: Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome. Neuron 45:753-764 (2005).
-
(2005)
Neuron
, vol.45
, pp. 753-764
-
-
McBride, S.M.1
Choi, C.H.2
Wang, Y.3
Liebelt, D.4
Braunstein, E.5
-
66
-
-
29444457877
-
Common deletion polymorphisms in the human genome
-
McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, et al: Common deletion polymorphisms in the human genome. Nat Genet 38:86-92 (2006).
-
(2006)
Nat Genet
, vol.38
, pp. 86-92
-
-
McCarroll, S.A.1
Hadnott, T.N.2
Perry, G.H.3
Sabeti, P.C.4
Zody, M.C.5
-
67
-
-
23944509593
-
Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome
-
Meins M, Lehmann J, Gerresheim F, Herchenbach J, Hagedorn M, et al: Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. J Med Genet 42:e12 (2005).
-
(2005)
J Med Genet
, vol.42
-
-
Meins, M.1
Lehmann, J.2
Gerresheim, F.3
Herchenbach, J.4
Hagedorn, M.5
-
68
-
-
33747054494
-
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: A new series of 140 patients and review of published reports
-
Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, et al: Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet 43:625-633 (2006).
-
(2006)
J Med Genet
, vol.43
, pp. 625-633
-
-
Menten, B.1
Maas, N.2
Thienpont, B.3
Buysse, K.4
Vandesompele, J.5
-
69
-
-
3042735950
-
Defective neuronal development in the mushroom bodies of Drosophila fragile X mental retardation 1 mutants
-
Michel CI, Kraft R, Restifo LL: Defective neuronal development in the mushroom bodies of Drosophila fragile X mental retardation 1 mutants. J Neurosci 24:5798-5809 (2004).
-
(2004)
J Neurosci
, vol.24
, pp. 5798-5809
-
-
Michel, C.I.1
Kraft, R.2
Restifo, L.L.3
-
70
-
-
0037071888
-
Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain
-
Morales J, Hiesinger PR, Schroeder AJ, Kume K, Verstreken P, et al: Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron 34:61-972 (2002).
-
(2002)
Neuron
, vol.34
, pp. 61-972
-
-
Morales, J.1
Hiesinger, P.R.2
Schroeder, A.J.3
Kume, K.4
Verstreken, P.5
-
71
-
-
0037039527
-
Alterations in the auditory startle response in Fmr1 targeted mutant mouse models of fragile X syndrome
-
Nielsen DM, Derber WJ, McClellan DA, Crnic LS: Alterations in the auditory startle response in Fmr1 targeted mutant mouse models of fragile X syndrome. Brain Res 927:8-17 (2002).
-
(2002)
Brain Res
, vol.927
, pp. 8-17
-
-
Nielsen, D.M.1
Derber, W.J.2
McClellan, D.A.3
Crnic, L.S.4
-
72
-
-
33846303604
-
Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization
-
Patsalis PC, Kousoulidou L, Mannik K, Sismani C, Zilina O, et al: Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization. Eur J Hum Genet 15:162-172 (2007).
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 162-172
-
-
Patsalis, P.C.1
Kousoulidou, L.2
Mannik, K.3
Sismani, C.4
Zilina, O.5
-
73
-
-
0032006885
-
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation
-
Piccini M, Vitelli F, Bruttini M, Pober BR, Jonsson JJ, et al: FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. Genomics 47:350-358 (1998).
-
(1998)
Genomics
, vol.47
, pp. 350-358
-
-
Piccini, M.1
Vitelli, F.2
Bruttini, M.3
Pober, B.R.4
Jonsson, J.J.5
-
74
-
-
42149173227
-
Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations
-
Pickering DL, Eudy JD, Olney AH, Dave BJ, Golden D, et al: Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations. Genet Med 10:262-266 (2008).
-
(2008)
Genet Med
, vol.10
, pp. 262-266
-
-
Pickering, D.L.1
Eudy, J.D.2
Olney, A.H.3
Dave, B.J.4
Golden, D.5
-
75
-
-
0036306870
-
Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders
-
Plenge RM, Stevenson RA, Lubs HA, Schwartz CE, Willard HF: Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. Am J Hum Genet 71:168-173 (2002).
-
(2002)
Am J Hum Genet
, vol.71
, pp. 168-173
-
-
Plenge, R.M.1
Stevenson, R.A.2
Lubs, H.A.3
Schwartz, C.E.4
Willard, H.F.5
-
76
-
-
33748992010
-
The genetics of mental retardation
-
Raymond FL, Tarpey P: The genetics of mental retardation. Hum Mol Genet 15 Spec No 2:R110-R116 (2006).
-
(2006)
Hum Mol Genet
, vol.15
, Issue.SPEC 2
-
-
Raymond, F.L.1
Tarpey, P.2
-
77
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, et al: Global variation in copy number in the human genome. Nature 444:444-454 (2006).
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
-
78
-
-
20544468497
-
The Drosophila fragile X mental retardation protein controls actin dynamics by directly regulating profilin in the brain
-
Reeve SP, Bassetto L, Genova GK, Kleyner Y, Leyssen M, et al: The Drosophila fragile X mental retardation protein controls actin dynamics by directly regulating profilin in the brain. Curr Biol 15:1156-1163 (2005).
-
(2005)
Curr Biol
, vol.15
, pp. 1156-1163
-
-
Reeve, S.P.1
Bassetto, L.2
Genova, G.K.3
Kleyner, Y.4
Leyssen, M.5
-
79
-
-
27644511924
-
Mental retardation genes in Drosophila : New approaches to understanding and treating developmental brain disorders
-
Restifo LL: Mental retardation genes in Drosophila : New approaches to understanding and treating developmental brain disorders. Ment Retard Dev Disabil Res Rev 11:286-294 (2005).
-
(2005)
Ment Retard Dev Disabil Res Rev
, vol.11
, pp. 286-294
-
-
Restifo, L.L.1
-
80
-
-
33646505092
-
X-linked mental retardation: Many genes for a complex disorder
-
Ropers HH: X-linked mental retardation: many genes for a complex disorder. Curr Opin Genet Dev 16:260-269 (2006).
-
(2006)
Curr Opin Genet Dev
, vol.16
, pp. 260-269
-
-
Ropers, H.H.1
-
81
-
-
32944465548
-
Array-CGH detection of micro rearrangements in mentally retarded individuals: Clinical significance of imbalances present both in affected children and normal parents
-
Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante AM, Sloos W, et al: Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J Med Genet 43:180-186 (2006).
-
(2006)
J Med Genet
, vol.43
, pp. 180-186
-
-
Rosenberg, C.1
Knijnenburg, J.2
Bakker, E.3
Vianna-Morgante, A.M.4
Sloos, W.5
-
83
-
-
33747751247
-
Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation
-
Saugier-Veber P, Goldenberg A, Drouin-Garraud V, de La Rochebrochard C, Layet V, et al: Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation. Eur J Hum Genet 14:1009-1017 (2006).
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 1009-1017
-
-
Saugier-Veber, P.1
Goldenberg, A.2
Drouin-Garraud, V.3
de La Rochebrochard, C.4
Layet, V.5
-
84
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, et al: Large-scale copy number polymorphism in the human genome. Science 305:525-528 (2004).
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
-
85
-
-
33746167778
-
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
-
Shaffer LG, Kashork CD, Saleki R, Rorem E, Sundin K, et al: Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 149:8-102 (2006).
-
(2006)
J Pediatr
, vol.149
, pp. 8-102
-
-
Shaffer, L.G.1
Kashork, C.D.2
Saleki, R.3
Rorem, E.4
Sundin, K.5
-
86
-
-
23844527864
-
Strong and ubiquitous expression of transgenes targeted into the beta-actin locus by cre/lox cassette replacement
-
Shmerling D, Danzer CP, Mao XH, Boisclair J, Haffner M, et al: Strong and ubiquitous expression of transgenes targeted into the beta-actin locus by cre/lox cassette replacement. Genesis 42:229-235 (2005).
-
(2005)
Genesis
, vol.42
, pp. 229-235
-
-
Shmerling, D.1
Danzer, C.P.2
Mao, X.H.3
Boisclair, J.4
Haffner, M.5
-
87
-
-
51449090280
-
Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections
-
Smyk M, Obersztyn E, Nowakowska B, Nawara M, Cheung SW, et al: Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. Am J Med Genet B Neuropsychiatr Genet 147B:799-806 (2008).
-
(2008)
Am J Med Genet B Neuropsychiatr Genet
, vol.147 B
, pp. 799-806
-
-
Smyk, M.1
Obersztyn, E.2
Nowakowska, B.3
Nawara, M.4
Cheung, S.W.5
-
88
-
-
33748339365
-
Microdeletions involving the SCN1A gene may be common in SCN1A -mutation-negative SMEI patients
-
Suls A, Claeys KG, Goossens D, Harding B, van LR, et al: Microdeletions involving the SCN1A gene may be common in SCN1A -mutation-negative SMEI patients. Hum Mutat 27:14-920 (2006).
-
(2006)
Hum Mutat
, vol.27
, pp. 14-920
-
-
Suls, A.1
Claeys, K.G.2
Goossens, D.3
Harding, B.4
van, L.R.5
-
89
-
-
34848812617
-
Partial duplications of the ATRX gene cause the ATR-X syndrome
-
Thienpont B, De Ravel T, Van Esch H, Van Schoubroeck D, Moerman P, et al: Partial duplications of the ATRX gene cause the ATR-X syndrome. Eur J Hum Genet 15:1094-1097 (2007).
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 1094-1097
-
-
Thienpont, B.1
De Ravel, T.2
Van Esch, H.3
Van Schoubroeck, D.4
Moerman, P.5
-
90
-
-
23944503759
-
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
-
Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, et al: Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 77:442-453 (2005a).
-
(2005)
Am J Hum Genet
, vol.77
, pp. 442-453
-
-
Van Esch, H.1
Bauters, M.2
Ignatius, J.3
Jansen, M.4
Raynaud, M.5
-
91
-
-
23944517115
-
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis
-
Van Esch H, Hollanders K, Badisco L, Melotte C, Van Hummelen P, et al: Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. Hum Mol Genet 14:1795-1803 (2005b).
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1795-1803
-
-
Van Esch, H.1
Hollanders, K.2
Badisco, L.3
Melotte, C.4
Van Hummelen, P.5
-
92
-
-
33846781559
-
Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes
-
Van Esch H, Jansen A, Bauters M, Froyen G, Fryns JP: Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. Am J Med Genet A 143:364-369 (2007).
-
(2007)
Am J Med Genet A
, vol.143
, pp. 364-369
-
-
Van Esch, H.1
Jansen, A.2
Bauters, M.3
Froyen, G.4
Fryns, J.P.5
-
93
-
-
2942729593
-
High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation
-
Veltman JA, Yntema HG, Lugtenberg D, Arts H, Briault S, et al: High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation. J Med Genet 41:425-432 (2004).
-
(2004)
J Med Genet
, vol.41
, pp. 425-432
-
-
Veltman, J.A.1
Yntema, H.G.2
Lugtenberg, D.3
Arts, H.4
Briault, S.5
-
94
-
-
0035154386
-
Efficient male and female germline transmission of a human chromosomal vector in mice
-
Voet T, Vermeesch J, Carens A, Durr J, Labaere C, et al: Efficient male and female germline transmission of a human chromosomal vector in mice. Genome Res 11:124-136 (2001).
-
(2001)
Genome Res
, vol.11
, pp. 124-136
-
-
Voet, T.1
Vermeesch, J.2
Carens, A.3
Durr, J.4
Labaere, C.5
-
95
-
-
0037379663
-
Modelling brain diseases in mice: The challenges of design and analysis
-
Watase K, Zoghbi HY: Modelling brain diseases in mice: the challenges of design and analysis. Nat Rev Genet 4:296-307 (2003).
-
(2003)
Nat Rev Genet
, vol.4
, pp. 296-307
-
-
Watase, K.1
Zoghbi, H.Y.2
-
96
-
-
36749009127
-
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans
-
Wu Y, Arai AC, Rumbaugh G, Srivastava AK, Turner G, et al: Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. Proc Natl Acad Sci USA 104:18163-18168 (2007).
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 18163-18168
-
-
Wu, Y.1
Arai, A.C.2
Rumbaugh, G.3
Srivastava, A.K.4
Turner, G.5
-
97
-
-
2942715357
-
The fragile X-related gene affects the crawling behavior of Drosophila larvae by regulating the mRNA level of the DEG/ENaC protein pickpocket1
-
Xu K, Bogert BA, Li W, Su K, Lee A, Gao FB: The fragile X-related gene affects the crawling behavior of Drosophila larvae by regulating the mRNA level of the DEG/ENaC protein pickpocket1. Curr Biol 14:1025-1034 (2004).
-
(2004)
Curr Biol
, vol.14
, pp. 1025-1034
-
-
Xu, K.1
Bogert, B.A.2
Li, W.3
Su, K.4
Lee, A.5
Gao, F.B.6
-
99
-
-
16644384244
-
IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1
-
Zhang YH, Huang BL, Niakan KK, McCabe LL, McCabe ER, Dipple KM: IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1. Hum Mutat 24:273 (2004).
-
(2004)
Hum Mutat
, vol.24
, pp. 273
-
-
Zhang, Y.H.1
Huang, B.L.2
Niakan, K.K.3
McCabe, L.L.4
McCabe, E.R.5
Dipple, K.M.6
-
100
-
-
0035977134
-
Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function
-
Zhang YQ, Bailey AM, Matthies HJ, Renden RB, Smith MA, et al: Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function. Cell 107:591-603 (2001).
-
(2001)
Cell
, vol.107
, pp. 591-603
-
-
Zhang, Y.Q.1
Bailey, A.M.2
Matthies, H.J.3
Renden, R.B.4
Smith, M.A.5
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