-
1
-
-
0034036849
-
Scanning by DOVAM-S detects all unique sequence changes in blinded analyses: Evidence that the scanning conditions are generic
-
Buzin C.H., Wen C.Y., Nguyen V.Q., Nozari G., Mengos A., Li X., Chen J.S., Liu Q., Gatti R.A., Fujimura F.K., and Sommer S.S. Scanning by DOVAM-S detects all unique sequence changes in blinded analyses: Evidence that the scanning conditions are generic. BioTechniques 28 (2000) 746-753
-
(2000)
BioTechniques
, vol.28
, pp. 746-753
-
-
Buzin, C.H.1
Wen, C.Y.2
Nguyen, V.Q.3
Nozari, G.4
Mengos, A.5
Li, X.6
Chen, J.S.7
Liu, Q.8
Gatti, R.A.9
Fujimura, F.K.10
Sommer, S.S.11
-
2
-
-
17344364660
-
Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers
-
Cook E.H.J., Courchesne R.Y., Cox N.J., Lord C., Gonen D., Guter S.J., Lincoln A., Nix K., Haas R., Leventhal B.L., and Courchesne E. Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers. Am. J. Hum. Genet. 62 (1998) 1077-1083
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 1077-1083
-
-
Cook, E.H.J.1
Courchesne, R.Y.2
Cox, N.J.3
Lord, C.4
Gonen, D.5
Guter, S.J.6
Lincoln, A.7
Nix, K.8
Haas, R.9
Leventhal, B.L.10
Courchesne, E.11
-
3
-
-
0037743572
-
Neurexin mediates the assembly of presynaptic terminals
-
Dean C., Scholl F.G., Choih J., DeMaria S., Berger J., Isacoff E., and Scheiffele P. Neurexin mediates the assembly of presynaptic terminals. Nat. Neurosci. 6 (2003) 708-716
-
(2003)
Nat. Neurosci.
, vol.6
, pp. 708-716
-
-
Dean, C.1
Scholl, F.G.2
Choih, J.3
DeMaria, S.4
Berger, J.5
Isacoff, E.6
Scheiffele, P.7
-
4
-
-
0029093668
-
The pre-linguistic autism diagnostic observation schedule
-
DiLavore P.C., Lord C., and Rutter M. The pre-linguistic autism diagnostic observation schedule. J Autism Dev. Disord. 25 (1995) 355-379
-
(1995)
J Autism Dev. Disord.
, vol.25
, pp. 355-379
-
-
DiLavore, P.C.1
Lord, C.2
Rutter, M.3
-
5
-
-
33750060415
-
-
J. Feng, J. Yan, W. Li, J. Chen, S.S. Sommer, Candidate gene analyses by scanning or brute force fluorescent sequencing; A comparison of DOVAM-S with gel-based and capillary-based sequencing, Genet. Test. (in press).
-
-
-
-
6
-
-
0034237258
-
PDZ domains in synapse assembly and signaling
-
Garner C.C., Nash J., and Huganir R.L. PDZ domains in synapse assembly and signaling. Trends Cell Biol. 10 (2000) 274-280
-
(2000)
Trends Cell Biol.
, vol.10
, pp. 274-280
-
-
Garner, C.C.1
Nash, J.2
Huganir, R.L.3
-
7
-
-
0022437369
-
Transfer of secretory proteins through the membrane of the endoplasmic reticulum
-
Hortsch M., and Meyer D.I. Transfer of secretory proteins through the membrane of the endoplasmic reticulum. Int. Rev. Cytol. 102 (1986) 215-242
-
(1986)
Int. Rev. Cytol.
, vol.102
, pp. 215-242
-
-
Hortsch, M.1
Meyer, D.I.2
-
8
-
-
0029036374
-
Neuroligin 1: A splice site-specific ligand for beta-neurexins
-
Ichtchenko K., Hata Y., Nguyen T., Ullrich B., Missler M., Moomaw C., and Sudhof T.C. Neuroligin 1: A splice site-specific ligand for beta-neurexins. Cell 81 (1995) 435-443
-
(1995)
Cell
, vol.81
, pp. 435-443
-
-
Ichtchenko, K.1
Hata, Y.2
Nguyen, T.3
Ullrich, B.4
Missler, M.5
Moomaw, C.6
Sudhof, T.C.7
-
9
-
-
0037656313
-
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
-
Jamain S., Quach H., Betancur C., Rastam M., Colineaux C., Gillberg I.C., Soderstrom H., Giros B., Leboyer M., Gillberg C., and Bourgeron T. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat. Genet. 34 (2003) 27-29
-
(2003)
Nat. Genet.
, vol.34
, pp. 27-29
-
-
Jamain, S.1
Quach, H.2
Betancur, C.3
Rastam, M.4
Colineaux, C.5
Gillberg, I.C.6
Soderstrom, H.7
Giros, B.8
Leboyer, M.9
Gillberg, C.10
Bourgeron, T.11
-
10
-
-
0032406199
-
CCG repeats in cDNAs from human brain
-
Kleiderlein J.J., Nisson P.E., Jessee J., Li W.B., Becker K.G., Derby M.L., Ross C.A., and Margolis R.L. CCG repeats in cDNAs from human brain. Hum. Genet. 103 (1998) 666-673
-
(1998)
Hum. Genet.
, vol.103
, pp. 666-673
-
-
Kleiderlein, J.J.1
Nisson, P.E.2
Jessee, J.3
Li, W.B.4
Becker, K.G.5
Derby, M.L.6
Ross, C.A.7
Margolis, R.L.8
-
11
-
-
12144291350
-
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
-
Laumonnier F., Bonnet-Brilhault F., Gomot M., Blanc R., David A., Moizard M.P., Raynaud M., Ronce N., Lemonnier E., Calvas P., Laudier B., Chelly J., Fryns J.P., Ropers H.H., Hamel B.C., Andres C., Barthelemy C., Moraine C., and Briault S. 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 (2004) 552-557
-
(2004)
Am. J. Hum. Genet.
, vol.74
, 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.15
Andres, C.16
Barthelemy, C.17
Moraine, C.18
Briault, S.19
-
12
-
-
0032915812
-
Detection of virtually all mutations-SSCP (DOVAM-S): A rapid method for mutation scanning with virtually 100% sensitivity
-
Liu Q., Feng J., Buzin C., Wen C., Nozari G., Mengos A., Nguyen V., Liu J., Crawford F., Fujimura F.K., and Sommer S.S. Detection of virtually all mutations-SSCP (DOVAM-S): A rapid method for mutation scanning with virtually 100% sensitivity. BioTechniques 26 (1999) 932-942
-
(1999)
BioTechniques
, vol.26
, pp. 932-942
-
-
Liu, Q.1
Feng, J.2
Buzin, C.3
Wen, C.4
Nozari, G.5
Mengos, A.6
Nguyen, V.7
Liu, J.8
Crawford, F.9
Fujimura, F.K.10
Sommer, S.S.11
-
13
-
-
0042878489
-
Absence of MeCP2 mutations in patients from the South Carolina autism project
-
Lobo-Menendez F., Sossey-Alaoui K., Bell J.M., Copeland-Yates S.A., Plank S.M., Sanford S.O., Skinner C., Simensen R.J., Schroer R.J., and Michaelis R.C. Absence of MeCP2 mutations in patients from the South Carolina autism project. Am. J. Med. Genet. B Neuropsychiatr. Genet. 117 (2003) 97-101
-
(2003)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.117
, pp. 97-101
-
-
Lobo-Menendez, F.1
Sossey-Alaoui, K.2
Bell, J.M.3
Copeland-Yates, S.A.4
Plank, S.M.5
Sanford, S.O.6
Skinner, C.7
Simensen, R.J.8
Schroer, R.J.9
Michaelis, R.C.10
-
14
-
-
0027997172
-
Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
-
Lord C., Rutter M., and LeCouteur A. Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J. Autism Dev. Dis. 24 (1994) 659-685
-
(1994)
J. Autism Dev. Dis.
, vol.24
, pp. 659-685
-
-
Lord, C.1
Rutter, M.2
LeCouteur, A.3
-
15
-
-
0024852413
-
The role of age at assessment, developmental level, and test in the stability of intelligence scores in young autistic children
-
Lord C., and Schopler E. The role of age at assessment, developmental level, and test in the stability of intelligence scores in young autistic children. J. Autism Dev. Disord. 19 (1989) 483-499
-
(1989)
J. Autism Dev. Disord.
, vol.19
, pp. 483-499
-
-
Lord, C.1
Schopler, E.2
-
16
-
-
0031983653
-
Neurexins: Three genes and 1001 products
-
Missler M., and Sudhof T.C. Neurexins: Three genes and 1001 products. Trends Genet. 14 (1998) 20-26
-
(1998)
Trends Genet.
, vol.14
, pp. 20-26
-
-
Missler, M.1
Sudhof, T.C.2
-
17
-
-
0036210068
-
Analysis of the human neurexin genes: Alternative splicing and the generation of protein diversity
-
Rowen L., Young J., Birditt B., Kaur A., Madan A., Philipps D.L., Qin S., Minx P., Wilson R.K., Hood L., and Graveley B.R. Analysis of the human neurexin genes: Alternative splicing and the generation of protein diversity. Genomics 79 (2002) 587-597
-
(2002)
Genomics
, vol.79
, 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
-
18
-
-
0018854085
-
Toward objective classification of childhood autism: Childhood autism rating scale (CARS)
-
Schopler E., Reichler R.J., DeVellis R.F., and Daly K. Toward objective classification of childhood autism: Childhood autism rating scale (CARS). J. Autism Dev. Disord. 10 (1980) 91-103
-
(1980)
J. Autism Dev. Disord.
, vol.10
, pp. 91-103
-
-
Schopler, E.1
Reichler, R.J.2
DeVellis, R.F.3
Daly, K.4
-
19
-
-
18344413881
-
Autism and maternally derived aberrations of chromosome 15q
-
Schroer R.J., Phelan M.C., Michaelis R.C., Crawford E.C., Skinner S.A., Cuccaro M., Simensen R.J., Bishop J., Skinner C., Fender D., and Stevenson R.E. Autism and maternally derived aberrations of chromosome 15q. Am. J. Med. Genet. 76 (1998) 327-336
-
(1998)
Am. J. Med. Genet.
, vol.76
, pp. 327-336
-
-
Schroer, R.J.1
Phelan, M.C.2
Michaelis, R.C.3
Crawford, E.C.4
Skinner, S.A.5
Cuccaro, M.6
Simensen, R.J.7
Bishop, J.8
Skinner, C.9
Fender, D.10
Stevenson, R.E.11
-
20
-
-
3042847437
-
MECP2 structural and 3′-UTR variants in schizophrenia, autism and other psychiatric diseases: A possible association with autism
-
Shibayama A., Cook Jr. E.H., Feng J., Glanzmann C., Yan J., Craddock N., Jones I.R., Goldman D., Heston L.L., and Sommer S.S. MECP2 structural and 3′-UTR variants in schizophrenia, autism and other psychiatric diseases: A possible association with autism. Am. J Med. Genet. B Neuropsychiatr. Genet. 128 (2004) 50-53
-
(2004)
Am. J Med. Genet. B Neuropsychiatr. Genet.
, vol.128
, pp. 50-53
-
-
Shibayama, A.1
Cook Jr., E.H.2
Feng, J.3
Glanzmann, C.4
Yan, J.5
Craddock, N.6
Jones, I.R.7
Goldman, D.8
Heston, L.L.9
Sommer, S.S.10
-
22
-
-
0003895711
-
-
American Guidance Service, Circle Pines, MN
-
Sparrow S.S., Balla D.A., and Cicchetti D.V. Vineland Adaptive Behavior Scales (1984), American Guidance Service, Circle Pines, MN
-
(1984)
Vineland Adaptive Behavior Scales
-
-
Sparrow, S.S.1
Balla, D.A.2
Cicchetti, D.V.3
-
23
-
-
0036270811
-
Structure and evolution of neurexin genes: Insight into the mechanism of alternative splicing
-
Tabuchi K., and Sudhof T.C. Structure and evolution of neurexin genes: Insight into the mechanism of alternative splicing. Genomics 79 (2002) 849-859
-
(2002)
Genomics
, vol.79
, pp. 849-859
-
-
Tabuchi, K.1
Sudhof, T.C.2
-
24
-
-
0028969264
-
Cartography of neurexins: More than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons
-
Ullrich B., Ushkaryov Y.A., and Sudhof T.C. Cartography of neurexins: More than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons. Neuron 14 (1995) 497-507
-
(1995)
Neuron
, vol.14
, pp. 497-507
-
-
Ullrich, B.1
Ushkaryov, Y.A.2
Sudhof, T.C.3
-
25
-
-
0028241554
-
Conserved domain structure of beta-neurexins. Unusual cleaved signal sequences in receptor-like neuronal cell-surface proteins
-
Ushkaryov Y.A., Hata Y., Ichtchenko K., Moomaw C., Afendis S., Slaughter C.A., and Sudhof T.C. Conserved domain structure of beta-neurexins. Unusual cleaved signal sequences in receptor-like neuronal cell-surface proteins. J Biol. Chem. 269 (1994) 11987-11992
-
(1994)
J Biol. Chem.
, vol.269
, pp. 11987-11992
-
-
Ushkaryov, Y.A.1
Hata, Y.2
Ichtchenko, K.3
Moomaw, C.4
Afendis, S.5
Slaughter, C.A.6
Sudhof, T.C.7
-
26
-
-
0023046815
-
A new method for predicting signal sequence cleavage sites
-
Von Heijne G. A new method for predicting signal sequence cleavage sites. Nucleic Acids Res. 14 (1986) 4683-4690
-
(1986)
Nucleic Acids Res.
, vol.14
, pp. 4683-4690
-
-
Von Heijne, G.1
-
27
-
-
20144389549
-
Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients
-
Yan J., Oliveira G., Coutinho A.M., Yang C., Feng J., Katz C., Sram J., Bockholt A., Jones I.R., Craddock N., Cook E.H.J., Vicente A.M., and Sommer S.S. Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients. Mol. Psychiatr. 10 (2005) 329-335
-
(2005)
Mol. Psychiatr.
, vol.10
, pp. 329-335
-
-
Yan, J.1
Oliveira, G.2
Coutinho, A.M.3
Yang, C.4
Feng, J.5
Katz, C.6
Sram, J.7
Bockholt, A.8
Jones, I.R.9
Craddock, N.10
Cook, E.H.J.11
Vicente, A.M.12
Sommer, S.S.13
|