-
1
-
-
0004095242
-
-
Burlington: University of Vermont, Research Center for Children, Youth, and Families
-
Achenbach, T. M., & Rescorla, L. A. (2001a). Manual for the ASEBA pre-school forms and profiles. Burlington: University of Vermont, Research Center for Children, Youth, and Families.
-
(2001)
Manual for the ASEBA Pre-school Forms and Profiles
-
-
Achenbach, T.M.1
Rescorla, L.A.2
-
2
-
-
0004095242
-
-
Burlington: University of Vermont, Research Center for Children, Youth, and Families
-
Achenbach, T. M., & Rescorla, L. A. (2001b). Manual for the ASEBA school-age forms and profiles. Burlington: University of Vermont, Research Center for Children, Youth, and Families.
-
(2001)
Manual for the ASEBA School-age Forms and Profiles
-
-
Achenbach, T.M.1
Rescorla, L.A.2
-
3
-
-
84872889369
-
-
Accessed 7/21/2011
-
American Academy of Neurology (2000). Practice guidelines: Screening and diagnosis of autism. http://www.aan.com/practice/guide line/index.cfm? fuseaction=home.welcome&keywords=autism? Submit=Search?guidelines. Accessed 7/21/2011.
-
(2000)
Practice Guidelines: Screening and Diagnosis of Autism.
-
-
-
4
-
-
0004235298
-
-
American Psychiatric Association (4th ed, text revision). Washington DC: American Psychiatric Association
-
American Psychiatric Association (2000). Diagnostic and statistical manual of mental disorders (4th ed, text revision). Washington DC: American Psychiatric Association, (pp. 69-84).
-
(2000)
Diagnostic and Statistical Manual of Mental Disorders
, pp. 69-84
-
-
-
5
-
-
0033573212
-
An autosomal genomic screen for autism
-
Barrett, S., Landa, R., Beck, J. C., & Braun, T. A. (1999). An autosomal genomic screen for autism. American Journal of Medical Genetics, 88, 609-615.
-
(1999)
American Journal of Medical Genetics
, vol.88
, pp. 609-615
-
-
Barrett, S.1
Landa, R.2
Beck, J.C.3
Braun, T.A.4
-
7
-
-
34547660213
-
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
-
DOI 10.1097/GIM.0b013e3180986192, PII 0012581720070700000004
-
Berg, J. S., Brunetti-Pierri, N., Peters, S. U., Kang, S. H., et al. (2007). Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genetic Medicine, 9(7), 427-441. (Pubitemid 47222135)
-
(2007)
Genetics in Medicine
, vol.9
, Issue.7
, pp. 427-441
-
-
Berg, J.S.1
Brunetti-Pierri, N.2
Peters, S.U.3
Kang, S.-H.L.4
Fong, C.-T.5
Salamone, J.6
Freedenberg, D.7
Hannig, V.L.8
Prock, L.A.9
Miller, D.T.10
Raffalli, P.11
Harris, D.J.12
Erickson, R.P.13
Cunniff, C.14
Clark, G.D.15
Blazo, M.A.16
Peiffer, D.A.17
Gunderson, K.L.18
Sahoo, T.19
Patel, A.20
Lupski, J.R.21
Beaudet, A.L.22
Cheung, S.W.23
more..
-
8
-
-
34447310269
-
Transmitted cytogenetic abnormalities in patients with mental retardation: Pathogenic or normal variants?
-
DOI 10.1016/j.ejmg.2007.03.004, PII S1769721207000328
-
Bisgaard, A. M., Kirchhoff, M., Nielsen, J. E., & Brandt, C. (2007). Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants? European Journal of Medical Genetics, 50(4), 243-255. (Pubitemid 47058414)
-
(2007)
European Journal of Medical Genetics
, vol.50
, Issue.4
, pp. 243-255
-
-
Bisgaard, A.-M.1
Kirchhoff, M.2
Nielsen, J.E.3
Brandt, C.4
Hove, H.5
Jepsen, B.6
Jensen, T.7
Ullmann, R.8
Skovby, F.9
-
9
-
-
78649559271
-
Detection of clinically relevant exonic copy-number changes by array CGH
-
Boone, P. M., Bacino, C. A., Shaw, C. A., Eng, P. A., et al. (2010). Detection of clinically relevant exonic copy-number changes by array CGH. Human Mutation, 31(12), 1326-1342.
-
(2010)
Human Mutation
, vol.31
, Issue.12
, pp. 1326-1342
-
-
Boone, P.M.1
Bacino, C.A.2
Shaw, C.A.3
Eng, P.A.4
-
11
-
-
33845518298
-
Towards mapping phenotypical traits in 18p-syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation
-
DOI 10.1038/sj.ejhg.5201718, PII 5201718
-
Brenk, C. H., Prott, E. C., Trost, D., Hoischen, A., et al. (2007). Towards mapping phenotypical traits in 18p-syndrome by arraybased comparative genomic hybridisation and fluorescent in situ hybridisation. European Journal of Human Genetics, 15(1), 35-44. (Pubitemid 44921664)
-
(2007)
European Journal of Human Genetics
, vol.15
, Issue.1
, pp. 35-44
-
-
Brenk, C.H.1
Prott, E.-C.2
Trost, D.3
Hoischen, A.4
Walldorf, C.5
Radlwimmer, B.6
Wieczorek, D.7
Propping, P.8
Gillessen-Kaesbach, G.9
Weber, R.G.10
Engels, H.11
-
12
-
-
80054848222
-
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay
-
epub ahead of print
-
Burnside, R. D., Pasion, R., Mikhail, F. M., Carroll, A. J., et al. (2011). Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Human Genetics [epub ahead of print].
-
(2011)
Human Genetics
-
-
Burnside, R.D.1
Pasion, R.2
Mikhail, F.M.3
Carroll, A.J.4
-
13
-
-
44349186162
-
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder
-
Christian, S. L., Brune, C. W., Sudi, J., Kumar, R. A., et al. (2008). Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biological Psychiatry, 63(12), 1111-1117.
-
(2008)
Biological Psychiatry
, vol.63
, Issue.12
, pp. 1111-1117
-
-
Christian, S.L.1
Brune, C.W.2
Sudi, J.3
Kumar, R.A.4
-
14
-
-
16944364326
-
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication
-
Cook, E. H., Jr., Lindgren, V., Leventhal, B. L., Courchesne, R., et al. (1997). Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. American Journal of Human Genetics, 60(4), 928-934. (Pubitemid 27146502)
-
(1997)
American Journal of Human Genetics
, vol.60
, Issue.4
, pp. 928-934
-
-
Cook Jr., E.H.1
Lindgren, V.2
Leventhal, B.L.3
Courchesne, R.4
Lincoln, A.5
Shulman, C.6
Lord, C.7
Courchesne, E.8
-
16
-
-
20144362581
-
An interstitial deletion of chromosome 7 at band q21: A case report and review
-
DOI 10.1002/ajmg.a.30106
-
Courtens, W., Vermeulen, S., Wuyts, W., Messiaen, L., et al. (2005). An interstitial deletion of chromosome 7 at band q21: A case report and review. American Journal of Medical Genetics, 134A(1), 12-23. (Pubitemid 40418563)
-
(2005)
American Journal of Medical Genetics
, vol.134 A
, Issue.1
, pp. 12-23
-
-
Courtens, W.1
Vermeulen, S.2
Wuyts, W.3
Messiaen, L.4
Wauters, J.5
Nuytinck, L.6
Peeters, N.7
Storm, K.8
Speleman, F.9
Nothen, M.M.10
-
17
-
-
75449116910
-
A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features
-
Dauwerse, J. G., Ruivenkamp, C. A., Hansson, K., Marijnissen, G. M., et al. (2010). A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features. American Journal of Medical Genetics, 152A(2), 427-433.
-
(2010)
American Journal of Medical Genetics
, vol.152 A
, Issue.2
, pp. 427-433
-
-
Dauwerse, J.G.1
Ruivenkamp, C.A.2
Hansson, K.3
Marijnissen, G.M.4
-
18
-
-
18844416870
-
Follow-up of adult males with chromosome 18p deletion
-
DOI 10.1016/j.ejmg.2005.01.024, PII S1769721205000303
-
de Ravel, T. J., Thiry, P., & Fryns, J. P. (2005). Follow-up of adult males with chromosome 18p deletion. European Journal of Medical Genetics, 48(2), 189-193. (Pubitemid 40692217)
-
(2005)
European Journal of Medical Genetics
, vol.48
, Issue.2
, pp. 189-193
-
-
De Ravel, T.J.L.1
Thiry, P.2
Fryns, J.-P.3
-
19
-
-
77951733851
-
Screening for autism spectrum disorders in children with Down syndrome: Population prevalence and screening test characteristics
-
DiGuiseppi, C., Hepburn, S., Davis, J., Fidler, D. J., et al. (2010). Screening for autism spectrum disorders in children with Down syndrome: Population prevalence and screening test characteristics. Journal of Developmental and Behavioral Pediatrics, 31(3), 181-191.
-
(2010)
Journal of Developmental and Behavioral Pediatrics
, vol.31
, Issue.3
, pp. 181-191
-
-
Diguiseppi, C.1
Hepburn, S.2
Davis, J.3
Fidler, D.J.4
-
20
-
-
78649231881
-
Microarray analysis in children with developmental disorder or epilepsy
-
Ezugha, H., Anderson, C. E., Marks, H. G., Khurana, D., et al. (2010). Microarray analysis in children with developmental disorder or epilepsy. Pediatric Neurology, 43(6), 391-394.
-
(2010)
Pediatric Neurology
, vol.43
, Issue.6
, pp. 391-394
-
-
Ezugha, H.1
Anderson, C.E.2
Marks, H.G.3
Khurana, D.4
-
22
-
-
77953545864
-
The role of MeCP2 in brain development and neurodevelopmental disorders
-
Gonzales, M. L., & LaSalle, J. M. (2010). The role of MeCP2 in brain development and neurodevelopmental disorders. Current Psychiatry Reports, 12(2), 127-134.
-
(2010)
Current Psychiatry Reports
, vol.12
, Issue.2
, pp. 127-134
-
-
Gonzales, M.L.1
Lasalle, J.M.2
-
23
-
-
77957309372
-
Copynumber variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis
-
Honda, S., Hayashi, S., Imoto, I., Toyama, J., et al. (2010). Copynumber variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis. Journal of Human Genetics, 55(9), 590-599.
-
(2010)
Journal of Human Genetics
, vol.55
, Issue.9
, pp. 590-599
-
-
Honda, S.1
Hayashi, S.2
Imoto, I.3
Toyama, J.4
-
24
-
-
6844251000
-
A full genome screen for autism with evidence for linkage to a region on chromosome 7q
-
IMGSAC.
-
IMGSAC. (1998). A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Human Molecular Genetics, 7(3), 571-578.
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.3
, pp. 571-578
-
-
-
25
-
-
33751257500
-
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
-
DOI 10.1136/jmg.2006.043166
-
Jacquemont, M. L., Sanlaville, D., Redon, R., Raoul, O., et al. (2006). Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. Journal of Medical Genetics, 43(11), 843-849. (Pubitemid 44787109)
-
(2006)
Journal of Medical Genetics
, vol.43
, Issue.11
, pp. 843-849
-
-
Jacquemont, M.-L.1
Sanlaville, D.2
Redon, R.3
Raoul, O.4
Cormier-Daire, V.5
Lyonnet, S.6
Amiel, J.7
Le Merrer, M.8
Heron, D.9
De Blois, M.-C.10
Prieur, M.11
Vekemans, M.12
Carter, N.P.13
Munnich, A.14
Colleaux, L.15
Philippe, A.16
-
26
-
-
36048931014
-
Identification and evaluation of children with autism spectrum disorders
-
DOI 10.1542/peds.2007-2361
-
Johnson, C. P., & Myers, S. M. (2007). Identification and evaluation of children with autism spectrum disorders. Pediatrics, 120, 1183-1215. (Pubitemid 350085561)
-
(2007)
Pediatrics
, vol.120
, Issue.5
, pp. 1183-1215
-
-
Johnson, C.P.1
Myers, S.M.2
Lipkin, P.H.3
Cartwright, J.D.4
Desch, L.W.5
Duby, J.C.6
Elias, E.R.7
Levey, E.B.8
Liptak, G.S.9
Murphy, N.A.10
Tilton, A.H.11
Lollar, D.12
Macias, M.13
McPherson, M.14
Olson, D.G.15
Strickland, B.16
Skipper, S.M.17
Ackermann, J.18
Del Monte, M.19
Challman, T.D.20
Hyman, S.L.21
Levy, S.E.22
Spooner, S.A.23
Yeargin-Allsopp, M.24
more..
-
27
-
-
78049520499
-
MicroRNA loss enhances learning and memory in mice
-
Konopka, W., Kiryk, A., Novak, M., Herwerth, M., et al. (2010). MicroRNA loss enhances learning and memory in mice. Journal of Neuroscience, 30(44), 14835-14842.
-
(2010)
Journal of Neuroscience
, vol.30
, Issue.44
, pp. 14835-14842
-
-
Konopka, W.1
Kiryk, A.2
Novak, M.3
Herwerth, M.4
-
28
-
-
0018944406
-
Behavior checklist for identifying severely handicapped individuals with high levels of autistic behavior
-
DOI 10.1111/j.1469-7610.1980.tb01797.x
-
Krug, D. A., Arick, J., & Almond, P. (1980). Behavior checklist for identifying severely handicapped individuals with high levels of autistic behavior. Journal of Child Psychology and Psychiatry, 21(3), 221-229. (Pubitemid 10039820)
-
(1980)
Journal of Child Psychology and Psychiatry and Allied Disciplines
, vol.21
, Issue.3
, pp. 221-229
-
-
Krug, D.A.1
Arick, J.2
Almond, P.3
-
29
-
-
38849126088
-
Recurrent 16p11.2 microdeletions in autism
-
DOI 10.1093/hmg/ddm376
-
Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., et al. (2008). Recurrent 16p11.2 microdeletions in autism. Human Molecular Genetics, 17(4), 628-638. (Pubitemid 351201774)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.4
, pp. 628-638
-
-
Kumar, R.A.1
Karamohamed, S.2
Sudi, J.3
Conrad, D.F.4
Brune, C.5
Badner, J.A.6
Gilliam, T.C.7
Nowak, N.J.8
Cook Jr., E.H.9
Dobyns, W.B.10
Christian, S.L.11
-
30
-
-
65349133641
-
10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences
-
Liehr, T., Stumm, M., Wegner, R. D., Bhatt, S., et al. (2009). 10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences. Cytogenet Genome Research, 124(1), 102-105.
-
(2009)
Cytogenet Genome Research
, vol.124
, Issue.1
, pp. 102-105
-
-
Liehr, T.1
Stumm, M.2
Wegner, R.D.3
Bhatt, S.4
-
31
-
-
58549101513
-
Autistic phenotypes and genetic testing: State-of-the art for the clinical geneticist
-
Lintas, C., & Persico, A. M. (2009). Autistic phenotypes and genetic testing: State-of-the art for the clinical geneticist. Journal of Medical Genetics, 46(1), 1-8.
-
(2009)
Journal of Medical Genetics
, vol.46
, Issue.1
, pp. 1-8
-
-
Lintas, C.1
Persico, A.M.2
-
32
-
-
79955452659
-
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
-
Liu, P., Erez, A., Nagamani, S. C., Bi, W., et al. (2011). Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Human Molecular Genetics, 20(10), 1975-1988.
-
(2011)
Human Molecular Genetics
, vol.20
, Issue.10
, pp. 1975-1988
-
-
Liu, P.1
Erez, A.2
Nagamani, S.C.3
Bi, W.4
-
33
-
-
0033802632
-
The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism
-
Lord, C., Risi, S., Lambrecht, L., Cook, E. H., et al. (2000). The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorders, 30, 205-223.
-
(2000)
Journal of Autism and Developmental Disorders
, vol.30
, pp. 205-223
-
-
Lord, C.1
Risi, S.2
Lambrecht, L.3
Cook, E.H.4
-
34
-
-
22444451239
-
A case with de novo interstitial deletion of chromosome 7q21.1-q22
-
Manguoǧlu, E., Berker-Karaüzüm, S., Baumer, A., Mihçi, E., et al. (2005). A case with de novo interstitial deletion of chromosome 7q21.1-q22. Genetic Counseling, 16(2), 155-159. (Pubitemid 41008039)
-
(2005)
Genetic Counseling
, vol.16
, Issue.2
, pp. 155-159
-
-
Manguoglu, E.1
Berker-Karauzum, S.2
Baumer, A.3
Mihci, E.4
Tacoy, S.5
Luleci, G.6
Schinzel, A.7
-
35
-
-
78649635514
-
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
-
Manning, M., & Hudgins, L. (2010). Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genetic Medicine, 12(11), 742-745.
-
(2010)
Genetic Medicine
, vol.12
, Issue.11
, pp. 742-745
-
-
Manning, M.1
Hudgins, L.2
-
36
-
-
34547526322
-
Developmental and behavioral questionnaire for autism spectrum disorders
-
DOI 10.1016/j.pediatrneurol.2007.04.013, PII S0887899407001956
-
McGrew, S., Malow, B. A., Henderson, L., Wang, L., et al. (2007). Developmental and behavioral questionnaire for autism spectrum disorders. Pediatric Neurology, 37(2), 108-116. (Pubitemid 47187655)
-
(2007)
Pediatric Neurology
, vol.37
, Issue.2
, pp. 108-116
-
-
McGrew, S.1
Malow, B.A.2
Henderson, L.3
Wang, L.4
Song, Y.5
Stone, W.L.6
-
37
-
-
0034709291
-
Value of a clinical morphology examination in autism
-
DOI 10.1002/(SICI)1096-8628(20000410)91:4<245::AID-AJMG1>3.0.CO;2-2
-
Miles, J. H., & Hillman, R. E. (2000). Value of a clinical morphology examination in autism. American Journal of Medical Genetics, 91, 245-253. (Pubitemid 30191245)
-
(2000)
American Journal of Medical Genetics
, vol.91
, Issue.4
, pp. 245-253
-
-
Miles, J.H.1
Hillman, R.E.2
-
38
-
-
20044382649
-
Essential versus complex autism: Definition of fundamental prognostic subtypes
-
DOI 10.1002/ajmg.a.30590
-
Miles, J. H., Takahashi, T. N., Bagby, S., Sahota, P. K., et al. (2005). Essential versus complex autism: Definition of fundamental prognostic subtypes. American Journal of Medical Genetics A, 135A, 171-180. (Pubitemid 40769968)
-
(2005)
American Journal of Medical Genetics
, vol.135 A
, Issue.2
, pp. 171-180
-
-
Miles, J.H.1
Takahashi, T.N.2
Bagby, S.3
Sahota, P.K.4
Vaslow, D.F.5
Wang, C.H.6
Hillman, R.E.7
Farmer, J.E.8
-
39
-
-
43049092258
-
Development and validation of a measure of dysmorphology: Useful for autism subgroup classification
-
DOI 10.1002/ajmg.a.32244
-
Miles, J. H., Takahasi, N., Hong, J., Munden, N., et al. (2008). Development and validation of a measure of dysmorphology: useful for autism subgroup classification. American Journal of Medical Genetics A, 146A(9), 1101-1116. (Pubitemid 351628596)
-
(2008)
American Journal of Medical Genetics, Part A
, vol.146
, Issue.9
, pp. 1101-1116
-
-
Miles, J.H.1
Takahashi, T.N.2
Hong, J.3
Munden, N.4
Flournoy, N.5
Braddock, S.R.6
Martin, R.A.7
Spence, M.A.8
Hillman, R.E.9
Farmer, J.E.10
-
40
-
-
79952197224
-
Genetic testing for autism: Recent advances and clinical implications
-
Miller, D. T. (2010). Genetic testing for autism: Recent advances and clinical implications. Expert Review of Molecular Diagnostics, 10, 837-840.
-
(2010)
Expert Review of Molecular Diagnostics
, vol.10
, pp. 837-840
-
-
Miller, D.T.1
-
41
-
-
77952032690
-
Consensus statement: Chromosomal microarray is a firsttier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
-
Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., et al. (2010). Consensus statement: chromosomal microarray is a firsttier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics, 86(5), 749-764.
-
(2010)
American Journal of Human Genetics
, vol.86
, Issue.5
, pp. 749-764
-
-
Miller, D.T.1
Adam, M.P.2
Aradhya, S.3
Biesecker, L.G.4
-
42
-
-
65949085347
-
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
-
Miller, D. T., Shen, Y., Weiss, L. A., Korn, J., et al. (2009). Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. Journal of Medical Genetics, 46(4), 242-248.
-
(2009)
Journal of Medical Genetics
, vol.46
, Issue.4
, pp. 242-248
-
-
Miller, D.T.1
Shen, Y.2
Weiss, L.A.3
Korn, J.4
-
43
-
-
3442894480
-
The genetics of autism
-
Muhle, R., Trentacoste, S. V., & Rapin, I. (2004). The genetics of autism. Pediatrics, 113, e472-e486.
-
(2004)
Pediatrics
, vol.113
-
-
Muhle, R.1
Trentacoste, S.V.2
Rapin, I.3
-
44
-
-
0003580996
-
-
(AGS ed.). Circle Pines: American Guidance Service Inc
-
Mullen, E. M. (1995). Mullen scales of early learning (AGS ed.). Circle Pines: American Guidance Service Inc.
-
(1995)
Mullen Scales of Early Learning
-
-
Mullen, E.M.1
-
45
-
-
79953225914
-
Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex
-
Numis, A. L., Major, P., Montenegro, M. A., Muzykewicz, D. A., et al. (2011). Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex. Neurology, 76(11), 981-987.
-
(2011)
Neurology
, vol.76
, Issue.11
, pp. 981-987
-
-
Numis, A.L.1
Major, P.2
Montenegro, M.A.3
Muzykewicz, D.A.4
-
46
-
-
42149187072
-
Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses
-
DOI 10.1097/GIM.0b013e31816b4420, PII 0012581720080400000007
-
Ou, Z., Kang, S. H., Shaw, C. A., Carmack, C. E., White, L. D., Patel, A., et al. (2008). Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinicalarray-comparative genomic hybridization analyses. Genetic Medicine, 10(4), 278-289. (Pubitemid 351544130)
-
(2008)
Genetics in Medicine
, vol.10
, Issue.4
, pp. 278-289
-
-
Ou, Z.1
Kang, S.-H.L.2
Shaw, C.A.3
Carmack, C.E.4
White, L.D.5
Patel, A.6
Beaudet, A.L.7
Cheung, S.W.8
Chinault, A.C.9
-
47
-
-
79953317449
-
Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature
-
Petti, M., Samanich, J., Pan, Q., Huang, C. K., et al. (2011). Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature. American Journal of Medical Genetics, 155(4), 825-832.
-
(2011)
American Journal of Medical Genetics
, vol.155
, Issue.4
, pp. 825-832
-
-
Petti, M.1
Samanich, J.2
Pan, Q.3
Huang, C.K.4
-
48
-
-
45349105098
-
Deletion 22q13.3 syndrome
-
doi:10.1186/1750-1172-3-14
-
Phelan, M. C. (2008). Deletion 22q13.3 syndrome. Orphanet Journal of Rare Diseases, 3, 14. doi:10.1186/1750-1172-3-14.
-
(2008)
Orphanet Journal of Rare Diseases
, vol.3
, pp. 14
-
-
Phelan, M.C.1
-
49
-
-
57049170205
-
Mutations in the calcium-related gene IL1RAPL1 are associated with autism
-
DOI 10.1093/hmg/ddn300
-
Piton, A., Michaud, J. L., Peng, H., Aradhya, S., et al. (2008). Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Human Molecular Genetics, 17(24), 3965-3974. (Pubitemid 352762857)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.24
, pp. 3965-3974
-
-
Piton, A.1
Michaud, J.L.2
Peng, H.3
Aradhya, S.4
Gauthier, J.5
Mottron, L.6
Champagne, N.7
Lafreniere, R.G.8
Hamdan, F.F.9
Joober, R.10
Fombonne, E.11
Marineau, C.12
Cossette, P.13
Dube, M.-P.14
Haghighi, P.15
Drapeau, P.16
Barker, P.A.17
Carbonetto, S.18
Rouleau, G.A.19
-
50
-
-
24144501508
-
Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder
-
Reddy, K. S. (2005). Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder. BMC Medical Genetics, 6, 3.
-
(2005)
BMC Medical Genetics
, vol.6
, pp. 3
-
-
Reddy, K.S.1
-
52
-
-
79952597943
-
Autism spectrum disorders and autistic traits: A decade of new twin studies
-
Ronald, A., & Hoekstra, R. A. (2011). Autism spectrum disorders and autistic traits: A decade of new twin studies. American Journal of Medical Genetics, 156(Part B), 255-274.
-
(2011)
American Journal of Medical Genetics
, vol.156
, Issue.PART B
, pp. 255-274
-
-
Ronald, A.1
Hoekstra, R.A.2
-
53
-
-
80052535784
-
Diagnostic yield of genetic testing in children diagnosed with autism spectrum disorders at a regional referral center
-
doi:10.1177/0009922811406261
-
Rosser, J. (2011). Diagnostic yield of genetic testing in children diagnosed with autism spectrum disorders at a regional referral center. Clinical Pediatric. doi:10.1177/0009922811406261.
-
(2011)
Clinical Pediatric
-
-
Rosser, J.1
-
54
-
-
42149168524
-
The professional practice and guidelines committee
-
Schaefer, G. B., & Mendelsohn, N. J. (2008). The professional practice and guidelines committee. Genetics in Medicine, 10(4), 301-305.
-
(2008)
Genetics in Medicine
, vol.10
, Issue.4
, pp. 301-305
-
-
Schaefer, G.B.1
Mendelsohn, N.J.2
-
55
-
-
0018854085
-
Toward objective classification of childhood autism: Childhood autism rating scale (CARS)
-
Schopler, E., Reichler, R. J., DeVellis, R. F., & Daly, K. (1980). Toward objective classification of childhood autism: Childhood autism rating scale (CARS). Journal of Autism and Developmental Disorders, 10(1), 91-103. (Pubitemid 10050041)
-
(1980)
Journal of Autism and Developmental Disorders
, vol.10
, Issue.1
, pp. 91-103
-
-
Schopler, E.1
Reichler, R.J.2
DeVellis, R.F.3
Daly, K.4
-
56
-
-
39749154724
-
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
-
DOI 10.1038/ng.93, PII NG93
-
Sharp, A. J., Mefford, H. C., Li, K., Baker, C., et al. (2008). A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nature Genetics, 40(3), 322-328. (Pubitemid 351311774)
-
(2008)
Nature Genetics
, vol.40
, Issue.3
, pp. 322-328
-
-
Sharp, A.J.1
Mefford, H.C.2
Li, K.3
Baker, C.4
Skinner, C.5
Stevenson, R.E.6
Schroer, R.J.7
Novara, F.8
De Gregori, M.9
Ciccone, R.10
Broomer, A.11
Casuga, I.12
Wang, Y.13
Xiao, C.14
Barbacioru, C.15
Gimelli, G.16
Bernardina, B.D.17
Torniero, C.18
Giorda, R.19
Regan, R.20
Murday, V.21
Mansour, S.22
Fichera, M.23
Castiglia, L.24
Failla, P.25
Ventura, M.26
Jiang, Z.27
Cooper, G.M.28
Knight, S.J.L.29
Romano, C.30
Zuffardi, O.31
Chen, C.32
Schwartz, C.E.33
Eichler, E.E.34
more..
-
57
-
-
77950564908
-
Autism consortium clinical genetics/DNA diagnostics collaboration. Clinical genetic testing for patients with autism spectrum disorders
-
Shen, Y., Dies, K. A., Holm, I. A., Bridgemohan, C., et al. (2010). Autism consortium clinical genetics/DNA diagnostics collaboration. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics, 125(4), e727-e735.
-
(2010)
Pediatrics
, vol.125
, Issue.4
-
-
Shen, Y.1
Dies, K.A.2
Holm, I.A.3
Bridgemohan, C.4
-
58
-
-
77953704493
-
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
-
Shinawi, M., Liu, P., Kang, S. H., Shen, J., et al. (2010). Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. Journal of Medical Genetics, 47(5), 332-341.
-
(2010)
Journal of Medical Genetics
, vol.47
, Issue.5
, pp. 332-341
-
-
Shinawi, M.1
Liu, P.2
Kang, S.H.3
Shen, J.4
-
59
-
-
0003895711
-
-
Circle Pines, MN: American Guidance Service
-
Sparrow, S., Balla, D., & Cicchetti, D. V. (1984). The Vineland adaptive behavior scales (Survey Form). Circle Pines, MN: American Guidance Service.
-
(1984)
The Vineland Adaptive Behavior Scales (Survey Form)
-
-
Sparrow, S.1
Balla, D.2
Cicchetti, D.V.3
-
61
-
-
0041320864
-
Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment
-
Thomas, J. A., Johnson, J., Peterson Kraai, T. L., Wilson, R., et al. (2003). Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment. American Journal of Medical Genetics, 119A(2), 111-120. (Pubitemid 37063879)
-
(2003)
American Journal of Medical Genetics
, vol.119 A
, Issue.2
, pp. 111-120
-
-
Thomas, J.A.1
Johnson, J.2
Peterson Kraai, T.L.3
Wilson, R.4
Tartaglia, N.5
LeRoux, J.6
Beischel, L.7
McGavran, L.8
Hagerman, R.J.9
-
63
-
-
77950420030
-
Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals
-
Thorson, L., Bryke, C., Rice, G., Artzer, A., et al. (2010). Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals. American Journal of Medical Genetics, 152A(4), 904-915.
-
(2010)
American Journal of Medical Genetics
, vol.152 A
, Issue.4
, pp. 904-915
-
-
Thorson, L.1
Bryke, C.2
Rice, G.3
Artzer, A.4
-
64
-
-
67349101629
-
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
-
Van der Aa, N., Rooms, L., Vandeweyer, G., van den Ende, J., et al. (2009). Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. European Journal of Medical Genetics, 52(2-3), 94-100.
-
(2009)
European Journal of Medical Genetics
, vol.52
, Issue.2-3
, pp. 94-100
-
-
Van Der Aa, N.1
Rooms, L.2
Vandeweyer, G.3
Van Den Ende, J.4
-
65
-
-
79955474079
-
15q11.2 microdeletion - Seven new patients with delayed development and/or behavioural problems
-
von der Lippe, C., Rustad, C., Heimdal, K., & Rødningen, O. K. (2011). 15q11.2 microdeletion - Seven new patients with delayed development and/or behavioural problems. European Journal of Medical Genetics, 54(3), 357-360.
-
(2011)
European Journal of Medical Genetics
, vol.54
, Issue.3
, pp. 357-360
-
-
Von Der Lippe, C.1
Rustad, C.2
Heimdal, K.3
Rødningen, O.K.4
-
69
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
DOI 10.1056/NEJMoa075974
-
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., et al. (2008). Association between microdeletion and microduplication at 16p11.2 and autism. New England Journal of Medicine, 358(7), 667-675. (Pubitemid 351240746)
-
(2008)
New England Journal of Medicine
, vol.358
, Issue.7
, pp. 667-675
-
-
Weiss, L.A.1
Shen, Y.2
Korn, J.M.3
Arking, D.E.4
Miller, D.T.5
Fossdal, R.6
Saemundsen, E.7
Stefansson, H.8
Ferreira, M.A.R.9
Green, T.10
Platt, O.S.11
Ruderfer, D.M.12
Walsh, C.A.13
Altshuler, D.14
Chakravarti, A.15
Tanzi, R.E.16
Stefansson, K.17
Santangelo, S.L.18
Gusella, J.F.19
Sklar, P.20
Wu, B.-L.21
Daly, M.J.22
more..
-
70
-
-
33744829020
-
Clinical and molecular characterization of individuals with 18p deletion: A genotype-phenotype correlation
-
DOI 10.1002/ajmg.a.31260
-
Wester, U., Bondeson, M. L., Edeby, C., & Annerén, G. (2006). Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation. American Journal of Medical Genetics A, 140(11), 1164-1171. (Pubitemid 43828075)
-
(2006)
American Journal of Medical Genetics, Part A
, vol.140
, Issue.11
, pp. 1164-1171
-
-
Wester, U.1
Bondeson, M.-L.2
Edeby, C.3
Anneren, G.4
-
71
-
-
33847219669
-
A review of gene linkage, association and expression studies in autism and an assessment of convergent evidence
-
Yang, M. S., & Gill, M. (2007). A review of gene linkage, association and expression studies in autism and an assessment of convergent evidence. International Journal of Developmental Neuroscience, 25, 69-85.
-
(2007)
International Journal of Developmental Neuroscience
, vol.25
, pp. 69-85
-
-
Yang, M.S.1
Gill, M.2
|