-
1
-
-
84878244184
-
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
-
Bena F, Bruno DL, Eriksson M, et al. (2013) Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. Am J Med Genet B Neuropsychiatr Genet 162B:388-403.
-
(2013)
Am J Med Genet B Neuropsychiatr Genet
, vol.162 B
, pp. 388-403
-
-
Bena, F.1
Bruno, D.L.2
Eriksson, M.3
-
2
-
-
84861230108
-
Mutations affecting synaptic levels of neurexin-1beta in autism and mental retardation
-
Camacho-Garcia RJ, Planelles MI, Margalef M, et al. (2012) Mutations affecting synaptic levels of neurexin-1beta in autism and mental retardation. Neurobiol Dis 47:135-143.
-
(2012)
Neurobiol Dis
, vol.47
, pp. 135-143
-
-
Camacho-Garcia, R.J.1
Planelles, M.I.2
Margalef, M.3
-
3
-
-
77955504111
-
The mac-romolecular architecture of extracellular domain of alpha NRXN1: Domain organization, flexibility, and insights into trans-synaptic disposition
-
Comoletti D, Miller MT, Jeffries CM, et al. (2010) The mac-romolecular architecture of extracellular domain of alpha NRXN1: domain organization, flexibility, and insights into trans-synaptic disposition. Structure 18:1044-1053.
-
(2010)
Structure
, vol.18
, pp. 1044-1053
-
-
Comoletti, D.1
Miller, M.T.2
Jeffries, C.M.3
-
4
-
-
84875543486
-
Investigation of NRXN1 deletions: Clinical and molecular characterization
-
Dabell MP, Rosenfeld JA, Bader P, et al. (2013) Investigation of NRXN1 deletions: clinical and molecular characterization. Am J Med Genet A 161A:717-731.
-
(2013)
Am J Med Genet A
, vol.161 A
, pp. 717-731
-
-
Dabell, M.P.1
Rosenfeld, J.A.2
Bader, P.3
-
5
-
-
11844283413
-
Effect of GGC (glycine) repeat length polymorphism in the human androgen receptor on androgen action
-
DOI 10.1002/pros.20128
-
Ding D, Xu L, Menon M, et al. (2005) Effect of GGC (glycine) repeat length polymorphism in the human androgen receptor on androgen action. Prostate 62:133-139. (Pubitemid 40096779)
-
(2005)
Prostate
, vol.62
, Issue.2
, pp. 133-139
-
-
Ding, D.1
Xu, L.2
Menon, M.3
Reddy, G.P.V.4
Barrack, E.R.5
-
6
-
-
33750079257
-
High frequency of neurexin 1β signal peptide structural variants in patients with autism
-
DOI 10.1016/j.neulet.2006.08.017, PII S0304394006008172
-
Feng J, Schroer R, Yan J, et al. (2006) High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neurosci Lett 409:10-13. (Pubitemid 44585112)
-
(2006)
Neuroscience Letters
, vol.409
, Issue.1
, pp. 10-13
-
-
Feng, J.1
Schroer, R.2
Yan, J.3
Song, W.4
Yang, C.5
Bockholt, A.6
Cook Jr., E.H.7
Skinner, C.8
Schwartz, C.E.9
Sommer, S.S.10
-
7
-
-
80054860297
-
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia
-
Gauthier J, Siddiqui TJ, Huashan P, et al. (2011) Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Hum Genet 130:563-573.
-
(2011)
Hum Genet
, vol.130
, pp. 563-573
-
-
Gauthier, J.1
Siddiqui, T.J.2
Huashan, P.3
-
8
-
-
0037656313
-
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
-
DOI 10.1038/ng1136
-
Jamain S, Quach H, Betancur C, et al. (2003) Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34:27-29. (Pubitemid 36548785)
-
(2003)
Nature Genetics
, vol.34
, Issue.1
, pp. 27-29
-
-
Jamain, S.1
Quach, H.2
Betancur, C.3
Rastam, M.4
Colineaux, C.5
Gillberg, C.6
Soderstrom, H.7
Giros, B.8
Leboyer, M.9
Gillberg, C.10
Bourgeron, T.11
Nyden, A.12
Philippe, A.13
Cohen, D.14
Chabane, N.15
Mouren-Simeoni, M.-C.16
Brice, A.17
Sponheim, E.18
Spurkland, I.19
Skjeldal, O.H.20
Coleman, M.21
Pearl, P.L.22
Cohen, I.L.23
Tsiouris, J.24
Zappella, M.25
Menchetti, G.26
Pompella, A.27
Aschauer, H.28
Van Maldergem, L.29
more..
-
9
-
-
38749084216
-
Disruption of Neurexin 1 Associated with Autism Spectrum Disorder
-
DOI 10.1016/j.ajhg.2007.09.011, PII S0002929707000171
-
Kim HG, Kishikawa S, Higgins AW, et al. (2008) Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet 82:199-207. (Pubitemid 351735950)
-
(2008)
American Journal of Human Genetics
, vol.82
, Issue.1
, pp. 199-207
-
-
Kim, H.-G.1
Kishikawa, S.2
Higgins, A.W.3
Seong, I.-S.4
Donovan, D.J.5
Shen, Y.6
Lally, E.7
Weiss, L.A.8
Najm, J.9
Kutsche, K.10
Descartes, M.11
Holt, L.12
Braddock, S.13
Troxell, R.14
Kaplan, L.15
Volkmar, F.16
Klin, A.17
Tsatsanis, K.18
Harris, D.J.19
Noens, I.20
Pauls, D.L.21
Daly, M.J.22
MacDonald, MarcyE.23
Morton, C.C.24
Quade, B.J.25
Gusella, J.F.26
more..
-
10
-
-
12144291350
-
X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family
-
DOI 10.1086/382137
-
Laumonnier F, Bonnet-Brilhault F, Gomot M, et al. (2004) X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet 74:552-557. (Pubitemid 38325925)
-
(2004)
American Journal of Human Genetics
, vol.74
, Issue.3
, pp. 552-557
-
-
Laumonnier, F.1
Bonnet-Brilhault, F.2
Gomot, M.3
Blanc, R.4
David, A.5
Moizard, M.-P.6
Raynaud, M.7
Ronce, N.8
Lemonnier, E.9
Calvas, P.10
Laudier, B.11
Chelly, J.12
Fryns, J.-P.13
Ropers, H.-H.14
Hamel, B.C.J.15
Andres, C.16
Barthelemy, C.17
Moraine, C.18
Briault, S.19
-
11
-
-
84862811585
-
Mutation analysis of the NRXN1 gene in a Chinese autism cohort
-
Liu Y, Hu Z, Xun G, et al. (2012) Mutation analysis of the NRXN1 gene in a Chinese autism cohort. J Psychiatr Res 46:630-634.
-
(2012)
J Psychiatr Res
, vol.46
, pp. 630-634
-
-
Liu, Y.1
Hu, Z.2
Xun, G.3
-
12
-
-
79952448691
-
Autism spectrum disorders
-
Pagon RA, Adam MP, Bird TD et al. (eds), Available at, accessed September 20 2013
-
Miles JH, McCathren RB, Stichter J, et al. (2010) Autism spectrum disorders. In: Pagon RA, Adam MP, Bird TD et al. (eds) GeneReviews™. Available at www.ncbi.nlm.nih.gov/books/NBK1442/, accessed September 20 2013.
-
(2010)
GeneReviews™
-
-
Miles, J.H.1
McCathren, R.B.2
Stichter, J.3
-
13
-
-
77952032690
-
Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
-
Miller DT, Adam MP, Aradhya S, et al. (2010) Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86: 749-764.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 749-764
-
-
Miller, D.T.1
Adam, M.P.2
Aradhya, S.3
-
14
-
-
79958143403
-
The crystal structure of the alpha-neurexin-1 extracellular region reveals a hinge point for mediating synaptic adhesion and function
-
Miller MT, Mileni M, Comoletti D, et al. (2011) The crystal structure of the alpha-neurexin-1 extracellular region reveals a hinge point for mediating synaptic adhesion and function. Structure 19:767-778.
-
(2011)
Structure
, vol.19
, pp. 767-778
-
-
Miller, M.T.1
Mileni, M.2
Comoletti, D.3
-
15
-
-
84891882894
-
Screening of NLGN3 and NLGN4X genes in Thai children with autism spectrum disorder
-
Mikhailov A, Fennell A, Plong-On O, et al. (2014) Screening of NLGN3 and NLGN4X genes in Thai children with autism spectrum disorder. Psychiatr Genet 24:42-43.
-
(2014)
Psychiatr Genet
, vol.24
, pp. 42-43
-
-
Mikhailov, A.1
Fennell, A.2
Plong-On, O.3
-
16
-
-
0036210068
-
Analysis of the human neurexin genes: Alternative splicing and the generation of protein diversity
-
DOI 10.1006/geno.2002.6734
-
Rowen L, Young J, Birditt B, et al. (2002) Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity. Genomics 79:587-597. (Pubitemid 34274301)
-
(2002)
Genomics
, vol.79
, Issue.4
, pp. 587-597
-
-
Rowen, L.1
Young, J.2
Birditt, B.3
Kaur, A.4
Madan, A.5
Philipps, D.L.6
Qin, S.7
Minx, P.8
Wilson, R.K.9
Hood, L.10
Graveley, B.R.11
-
17
-
-
84869235517
-
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions
-
Schaaf CP, Boone PM, Sampath S, et al. (2012) Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. Eur J Hum Genet 20:1240-1247.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 1240-1247
-
-
Schaaf, C.P.1
Boone, P.M.2
Sampath, S.3
-
18
-
-
80051674258
-
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders
-
Schaaf CP, Sabo A, Sakai Y, et al. (2011) Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet 20:3366-3375.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 3366-3375
-
-
Schaaf, C.P.1
Sabo, A.2
Sakai, Y.3
-
19
-
-
0036270811
-
Structure and evolution of neurexin genes: Insight into the mechanism of alternative splicing
-
DOI 10.1006/geno.2002.6780
-
Tabuchi K, Sudhof TC (2002) Structure and evolution of neurexin genes: insight into the mechanism of alternative splicing. Genomics 79:849-859. (Pubitemid 34595320)
-
(2002)
Genomics
, vol.79
, Issue.6
, pp. 849-859
-
-
Tabuchi, K.1
Sudhof, T.C.2
-
20
-
-
44349193331
-
Neurexin 1alpha structural variants associated with autism
-
Yan J, Noltner K, Feng J, et al. (2008) Neurexin 1alpha structural variants associated with autism. Neurosci Lett 438: 368-370.
-
(2008)
Neurosci Lett
, vol.438
, pp. 368-370
-
-
Yan, J.1
Noltner, K.2
Feng, J.3
-
21
-
-
78650866712
-
Cell adhesion molecules and their involvement in autism spectrum disorder
-
Ye H, Liu J, Wu JY (2010) Cell adhesion molecules and their involvement in autism spectrum disorder. Neurosignals 18:62-71.
-
(2010)
Neurosignals
, vol.18
, pp. 62-71
-
-
Ye, H.1
Liu, J.2
Wu, J.Y.3
-
22
-
-
72149095158
-
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila
-
Zweier C, de Jong EK, Zweier M, et al. (2009) CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet 85: 655-666.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 655-666
-
-
Zweier, C.1
De Jong, E.K.2
Zweier, M.3
|