-
2
-
-
33847729536
-
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium
-
de Brouwer A.P.M., et al. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Human Mutation 2007, 28:207-208.
-
(2007)
Human Mutation
, vol.28
, pp. 207-208
-
-
de Brouwer, A.P.M.1
-
3
-
-
41449113254
-
X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation
-
Madrigal I., et al. X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. BMC Genomics 2007, 8:443.
-
(2007)
BMC Genomics
, vol.8
, pp. 443
-
-
Madrigal, I.1
-
4
-
-
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. European Journal of Medical Genetics 2005, 48:263-275.
-
(2005)
European Journal of Medical Genetics
, vol.48
, pp. 263-275
-
-
Bauters, M.1
Van Esch, H.2
Marynen, P.3
Froyen, G.4
-
5
-
-
77953693575
-
Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis
-
Vissers L.E.L.M., de Vries B.A., Veltman J. Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis. Journal of Medical Genetics 2010, 47:289-297.
-
(2010)
Journal of Medical Genetics
, vol.47
, pp. 289-297
-
-
Vissers, L.E.L.M.1
de Vries, B.A.2
Veltman, J.3
-
6
-
-
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., 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. Human Mutation 2007, 28:1034-1042.
-
(2007)
Human Mutation
, vol.28
, pp. 1034-1042
-
-
Froyen, G.1
-
8
-
-
61649100746
-
Genomic microarrays in mental retardation: a practical workflow for diagnostic applications
-
Koolen D., et al. Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Human Mutation 2009, 30:283-292.
-
(2009)
Human Mutation
, vol.30
, pp. 283-292
-
-
Koolen, D.1
-
9
-
-
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., 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. Journal of Medical Genetics 2006, 43:625-633.
-
(2006)
Journal of Medical Genetics
, vol.43
, pp. 625-633
-
-
Menten, B.1
-
10
-
-
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., 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. Human Molecular Genetics 2005, 14:1795-1803.
-
(2005)
Human Molecular Genetics
, vol.14
, pp. 1795-1803
-
-
Van Esch, H.1
-
11
-
-
23944503759
-
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
-
Van Esch H., et al. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. American Journal of Human Genetics 2005, 77:442-453.
-
(2005)
American Journal of Human Genetics
, vol.77
, pp. 442-453
-
-
Van Esch, H.1
-
12
-
-
71449109112
-
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination
-
Vandewalle J., et al. Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. American Journal of Human Genetics 2009, 85:809-822.
-
(2009)
American Journal of Human Genetics
, vol.85
, pp. 809-822
-
-
Vandewalle, J.1
-
13
-
-
0026678490
-
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
-
Allen R.C., Zoghbi H.Y., Moseley A.B., Rosenblatt H.M., Belmont J.W. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. American Journal of Human Genetics 1992, 51:1229-1239.
-
(1992)
American Journal of Human Genetics
, vol.51
, pp. 1229-1239
-
-
Allen, R.C.1
Zoghbi, H.Y.2
Moseley, A.B.3
Rosenblatt, H.M.4
Belmont, J.W.5
-
14
-
-
34247603568
-
The human Pseudoautosomal Region (PAR): origin, function and future
-
Helena Mangs A., Morris B.J. The human Pseudoautosomal Region (PAR): origin, function and future. Current Genomics 2007, 8:129-136.
-
(2007)
Current Genomics
, vol.8
, pp. 129-136
-
-
Helena Mangs, A.1
Morris, B.J.2
-
15
-
-
18344362785
-
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders
-
Corzo D., et al. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. American Journal of Human Genetics 2002, 70:1520-1531.
-
(2002)
American Journal of Human Genetics
, vol.70
, pp. 1520-1531
-
-
Corzo, D.1
-
16
-
-
47149108541
-
Autism-associated familial microdeletion of Xp11.22
-
Qiao Y., et al. Autism-associated familial microdeletion of Xp11.22. Clinical Genetics 2008, 74:134-144.
-
(2008)
Clinical Genetics
, vol.74
, pp. 134-144
-
-
Qiao, Y.1
-
17
-
-
0032580161
-
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
-
Billuart P., et al. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 1998, 392:923-926.
-
(1998)
Nature
, vol.392
, pp. 923-926
-
-
Billuart, P.1
-
18
-
-
33847398443
-
Alpha thalassaemia-mental retardation, X linked
-
Gibbons R. Alpha thalassaemia-mental retardation, X linked. Orphanet Journal of Rare Diseases 2006, 1:15.
-
(2006)
Orphanet Journal of Rare Diseases
, vol.1
, pp. 15
-
-
Gibbons, R.1
-
19
-
-
76249116225
-
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
-
Giannandrea M., et al. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. American Journal of Human Genetics 2010, 86:185-195.
-
(2010)
American Journal of Human Genetics
, vol.86
, pp. 185-195
-
-
Giannandrea, M.1
-
20
-
-
79958807516
-
Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with Syndromic Moyamoya
-
Miskinyte S., et al. Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with Syndromic Moyamoya. American Journal of Human Genetics 2011, 88:718-728.
-
(2011)
American Journal of Human Genetics
, vol.88
, pp. 718-728
-
-
Miskinyte, S.1
-
21
-
-
79960091949
-
A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics
-
Witham S., Takano K., Schwartz C., Alexov E. A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics. Proteins 2011, 79:2444-2454.
-
(2011)
Proteins
, vol.79
, pp. 2444-2454
-
-
Witham, S.1
Takano, K.2
Schwartz, C.3
Alexov, E.4
-
22
-
-
78650224893
-
Profiles of serotonin receptors in the developing human thalamus
-
Wai M.S.M., Lorke D.E., Kwong W.H., Zhang L., Yew D.T. Profiles of serotonin receptors in the developing human thalamus. Psychiatry Research 2011, 185:238-242.
-
(2011)
Psychiatry Research
, vol.185
, pp. 238-242
-
-
Wai, M.S.M.1
Lorke, D.E.2
Kwong, W.H.3
Zhang, L.4
Yew, D.T.5
-
23
-
-
38549158659
-
Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes
-
Mochel F., Missirian C., Reynaud R., Moncla A. Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes. European Journal of Medical Genetics 2008, 51:68-73.
-
(2008)
European Journal of Medical Genetics
, vol.51
, pp. 68-73
-
-
Mochel, F.1
Missirian, C.2
Reynaud, R.3
Moncla, A.4
-
24
-
-
12144291350
-
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
-
Laumonnier F., et al. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. American Journal of Human Genetics 2004, 74:552-557.
-
(2004)
American Journal of Human Genetics
, vol.74
, pp. 552-557
-
-
Laumonnier, F.1
-
25
-
-
15844427598
-
Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation
-
Lesca G., et al. Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation. Clinical Genetics 2005, 67:367-368.
-
(2005)
Clinical Genetics
, vol.67
, pp. 367-368
-
-
Lesca, G.1
-
26
-
-
39049156843
-
Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosis
-
Cuevas-Covarrubias S., González-Huerta L.M. Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosis. The British Journal of Dermatology 2008, 158:483-486.
-
(2008)
The British Journal of Dermatology
, vol.158
, pp. 483-486
-
-
Cuevas-Covarrubias, S.1
González-Huerta, L.M.2
-
27
-
-
0037656313
-
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
-
Jamain S., et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nature Genetics 2003, 34:27-29.
-
(2003)
Nature Genetics
, vol.34
, pp. 27-29
-
-
Jamain, S.1
-
28
-
-
42649125261
-
Familial deletion within NLGN4 associated with autism and Tourette syndrome
-
Lawson-Yuen A., Saldivar J.-S., Sommer S., Picker J. Familial deletion within NLGN4 associated with autism and Tourette syndrome. European Journal of Human Genetics 2008, 16:614-618.
-
(2008)
European Journal of Human Genetics
, vol.16
, pp. 614-618
-
-
Lawson-Yuen, A.1
Saldivar, J.-S.2
Sommer, S.3
Picker, J.4
-
29
-
-
74849134916
-
A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation
-
Pavlowsky A., et al. A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation. Current Biology 2010, 20:103-115.
-
(2010)
Current Biology
, vol.20
, pp. 103-115
-
-
Pavlowsky, A.1
-
30
-
-
79251512326
-
Intragenic deletions of IL1RAPL1: report of two cases and review of the literature
-
Behnecke A., et al. Intragenic deletions of IL1RAPL1: report of two cases and review of the literature. American Journal of Medical Genetics Part A 2011, 155A:372-379.
-
(2011)
American Journal of Medical Genetics Part A
, vol.155 A
, pp. 372-379
-
-
Behnecke, A.1
-
31
-
-
0032819848
-
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
-
Carrié A., et al. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nature Genetics 1999, 23:25-31.
-
(1999)
Nature Genetics
, vol.23
, pp. 25-31
-
-
Carrié, A.1
-
32
-
-
18244399397
-
Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X; autosome translocation t (X; 21)(p11. 2; q22. 3) and non-syndromic mental retardation
-
Lossi A., et al. Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X; autosome translocation t (X; 21)(p11. 2; q22. 3) and non-syndromic mental retardation. Journal of Medical Genetics 2002, 39:113-117.
-
(2002)
Journal of Medical Genetics
, vol.39
, pp. 113-117
-
-
Lossi, A.1
-
33
-
-
9144230687
-
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation
-
Shoichet S., et al. Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. American Journal of Human Genetics 2003, 73:1341-1354.
-
(2003)
American Journal of Human Genetics
, vol.73
, pp. 1341-1354
-
-
Shoichet, S.1
-
34
-
-
79955102373
-
Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair
-
Speevak M.D., Farrell S. Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair. American Journal of Medical Genetics 2011, 156B:484-489.
-
(2011)
American Journal of Medical Genetics
, vol.156 B
, pp. 484-489
-
-
Speevak, M.D.1
Farrell, S.2
-
35
-
-
3242696203
-
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation
-
Tarpey P., et al. Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. American Journal of Human Genetics 2004, 75:318-324.
-
(2004)
American Journal of Human Genetics
, vol.75
, pp. 318-324
-
-
Tarpey, P.1
-
36
-
-
47149118680
-
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene
-
Bedeschi M.F., et al. Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. American Journal of Medical Genetic 2008, 146A:1718-1724.
-
(2008)
American Journal of Medical Genetic
, vol.146 A
, pp. 1718-1724
-
-
Bedeschi, M.F.1
-
37
-
-
84856024149
-
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions
-
El-Hattab A.W., et al. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. Journal of Medical Genetics 2011, 48:840-850.
-
(2011)
Journal of Medical Genetics
, vol.48
, pp. 840-850
-
-
El-Hattab, A.W.1
-
38
-
-
63749127459
-
Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax
-
Lugtenberg D., et al. Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax. American Journal of Medical Genetics 2009, 149A:760-766.
-
(2009)
American Journal of Medical Genetics
, vol.149 A
, pp. 760-766
-
-
Lugtenberg, D.1
-
39
-
-
0036471125
-
Neurodevelopmental defects resulting from ATRX overexpression in transgenic mice
-
Bérubé N.G., et al. Neurodevelopmental defects resulting from ATRX overexpression in transgenic mice. Human Molecular Genetics 2002, 11:253-261.
-
(2002)
Human Molecular Genetics
, vol.11
, pp. 253-261
-
-
Bérubé, N.G.1
-
40
-
-
29244431667
-
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
-
Hagens O., et al. Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Human Genetics 2006, 118:578-590.
-
(2006)
Human Genetics
, vol.118
, pp. 578-590
-
-
Hagens, O.1
-
41
-
-
40749130484
-
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 are associated with mental retardation
-
Froyen G., et al. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 are associated with mental retardation. Journal of Human Genetics 2008, 82:432-443.
-
(2008)
Journal of Human Genetics
, vol.82
, pp. 432-443
-
-
Froyen, G.1
-
42
-
-
77949728324
-
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
-
Vos Y.J., et al. Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. Journal of Medical Genetics 2010, 47:169-175.
-
(2010)
Journal of Medical Genetics
, vol.47
, pp. 169-175
-
-
Vos, Y.J.1
-
43
-
-
37849018206
-
Characterization of interstitial Xp duplications in two families by tiling path array CGH
-
Tzschach A., et al. Characterization of interstitial Xp duplications in two families by tiling path array CGH. American Journal of Medical Genetics 2008, 203:197-203.
-
(2008)
American Journal of Medical Genetics
, vol.203
, pp. 197-203
-
-
Tzschach, A.1
-
44
-
-
78650050566
-
Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy
-
Klitten L.L., Møller R.S., Ravn K., Hjalgrim H., Tommerup N. Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy. European Journal of Human Genetics 2011, 19:1-2.
-
(2011)
European Journal of Human Genetics
, vol.19
, pp. 1-2
-
-
Klitten, L.L.1
Møller, R.S.2
Ravn, K.3
Hjalgrim, H.4
Tommerup, N.5
-
45
-
-
77149128665
-
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition
-
Rio M., et al. Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition. European Journal of Human Genetics 2010, 18:285-290.
-
(2010)
European Journal of Human Genetics
, vol.18
, pp. 285-290
-
-
Rio, M.1
-
46
-
-
0034194228
-
(Over) correction of FMR1 deficiency with YAC transgenics: behavioral and physical features
-
Peier A.M., et al. (Over) correction of FMR1 deficiency with YAC transgenics: behavioral and physical features. Human Molecular Genetics 2000, 9:1145-1160.
-
(2000)
Human Molecular Genetics
, vol.9
, pp. 1145-1160
-
-
Peier, A.M.1
-
47
-
-
33644817011
-
Disruption of PTEN coupling with 5-HT2C receptors suppresses behavioral responses induced by drugs of abuse
-
Ji S.-P., et al. Disruption of PTEN coupling with 5-HT2C receptors suppresses behavioral responses induced by drugs of abuse. Nature Medicine 2006, 12:324-329.
-
(2006)
Nature Medicine
, vol.12
, pp. 324-329
-
-
Ji, S.-P.1
-
48
-
-
44849143972
-
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
-
Bauters M., et al. Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Research 2008, 18:847-858.
-
(2008)
Genome Research
, vol.18
, pp. 847-858
-
-
Bauters, M.1
-
49
-
-
80054827874
-
The causality of de novo copy number variants is overestimated
-
Vermeesch J.R., Balikova I., Schrander-Stumpel C., Fryns J.-P., Devriendt K. The causality of de novo copy number variants is overestimated. European Journal of Human Genetics 2011, 19:1-2.
-
(2011)
European Journal of Human Genetics
, vol.19
, pp. 1-2
-
-
Vermeesch, J.R.1
Balikova, I.2
Schrander-Stumpel, C.3
Fryns, J.-P.4
Devriendt, K.5
-
50
-
-
11144356173
-
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
-
Shaw-Smith C., et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. Journal of Medical Genetics 2004, 41:241-248.
-
(2004)
Journal of Medical Genetics
, vol.41
, pp. 241-248
-
-
Shaw-Smith, C.1
-
51
-
-
77950859073
-
Interstitial microduplication of Xp22.31: causative of intellectual disability or benign copy number variant?
-
Li F., et al. Interstitial microduplication of Xp22.31: causative of intellectual disability or benign copy number variant?. European Journal of Medical Genetics 2010, 53:93-99.
-
(2010)
European Journal of Medical Genetics
, vol.53
, pp. 93-99
-
-
Li, F.1
-
52
-
-
79955452659
-
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
-
Liu P., et al. Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Human Molecular Genetics 2011, 20:1975-1988.
-
(2011)
Human Molecular Genetics
, vol.20
, pp. 1975-1988
-
-
Liu, P.1
-
53
-
-
50549090966
-
Private inherited microdeletion/microduplications: implications in clinical practice
-
Mencarelli M.A., et al. Private inherited microdeletion/microduplications: implications in clinical practice. European Journal of Medical Genetics 2008, 51:409-416.
-
(2008)
European Journal of Medical Genetics
, vol.51
, pp. 409-416
-
-
Mencarelli, M.A.1
-
54
-
-
77649210940
-
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
-
Lugtenberg D., et al. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. American Journal of Medical Genetics 2010, 152A:638-645.
-
(2010)
American Journal of Medical Genetics
, vol.152 A
, pp. 638-645
-
-
Lugtenberg, D.1
-
55
-
-
23644444150
-
Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation
-
Mansouri M.R., et al. Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation. European Journal of Human Genetics 2005, 13:970-977.
-
(2005)
European Journal of Human Genetics
, vol.13
, pp. 970-977
-
-
Mansouri, M.R.1
|