-
1
-
-
0035057465
-
Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients
-
Borgatti R, Piccinelli P, Passoni D, Dalpra L, Miozzo M, Micheli R, Gagliardi C, Balottin U. 2001. Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients. Pediatr Neurol 24:111-116.
-
(2001)
Pediatr Neurol
, vol.24
, pp. 111-116
-
-
Borgatti, R.1
Piccinelli, P.2
Passoni, D.3
Dalpra, L.4
Miozzo, M.5
Micheli, R.6
Gagliardi, C.7
Balottin, U.8
-
2
-
-
0035003096
-
Disruption of the bipartite imprinting center in a family with Angelman syndrome
-
Buiting K, Barnicoat A, Lich C, Pembrey M, Malcolm S, Horsthemke B. 2001. Disruption of the bipartite imprinting center in a family with Angelman syndrome. Am J Hum Genet 68:1290-1294.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1290-1294
-
-
Buiting, K.1
Barnicoat, A.2
Lich, C.3
Pembrey, M.4
Malcolm, S.5
Horsthemke, B.6
-
3
-
-
0035336299
-
The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a
-
Chamberlain SJ, Brannan CI. 2001. The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a. Genomics 73:316-322.
-
(2001)
Genomics
, vol.73
, pp. 316-322
-
-
Chamberlain, S.J.1
Brannan, C.I.2
-
4
-
-
0028365522
-
Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase
-
Chong SS, Eichler EE, Nelson DL, Hughes MR. 1994. Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. Am J Med Genet 51:522-526.
-
(1994)
Am J Med Genet
, vol.51
, pp. 522-526
-
-
Chong, S.S.1
Eichler, E.E.2
Nelson, D.L.3
Hughes, M.R.4
-
5
-
-
16944364326
-
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication
-
Cook EH Jr, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E. 1997. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet 60:928-934.
-
(1997)
Am J Hum Genet
, vol.60
, 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
-
6
-
-
17344364660
-
Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers
-
Cook EH Jr, Courchesne RY, Cox NJ, Lord C, Gonen D, Guter SJ, Lincoln A, Nix K, Haas R, Leventhal BL, Courchesne E. 1998. Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers. Am J Hum Genet 62:1077-1083.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1077-1083
-
-
Cook Jr, E.H.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
-
7
-
-
0029130796
-
Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population
-
Excoffier L, Slatkin M. 1995. Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 12:921-927.
-
(1995)
Mol Biol Evol
, vol.12
, pp. 921-927
-
-
Excoffier, L.1
Slatkin, M.2
-
8
-
-
0035154452
-
Genetic analysis of case/control data using estimated haplotype frequencies: Application to APOE locus variation and Alzheimer's disease
-
Fallin D, Cohen A, Essioux L, Chumakov I, Blumenfeld M, Cohen D, Schork NJ. 2001. Genetic analysis of case/control data using estimated haplotype frequencies: Application to APOE locus variation and Alzheimer's disease. Genome Res 11:143-151.
-
(2001)
Genome Res
, vol.11
, pp. 143-151
-
-
Fallin, D.1
Cohen, A.2
Essioux, L.3
Chumakov, I.4
Blumenfeld, M.5
Cohen, D.6
Schork, N.J.7
-
9
-
-
0032939631
-
The spectrum of mutations in UBE3A causing Angelman syndrome
-
Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Shristian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM, Beuten J, Willems PJ, Ledbetter DH, Beaudet AL. 1999. The spectrum of mutations in UBE3A causing Angelman syndrome. Hum Mol Genet 8:129-135.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 129-135
-
-
Fang, P.1
Lev-Lehman, E.2
Tsai, T.F.3
Matsuura, T.4
Benton, C.S.5
Sutcliffe, J.S.6
Shristian, S.L.7
Kubota, T.8
Halley, D.J.9
Meijers-Heijboer, H.10
Langlois, S.11
Graham, J.M.12
Beuten, J.13
Willems, P.J.14
Ledbetter, D.H.15
Beaudet, A.L.16
-
10
-
-
0035653670
-
Genetics of autism: Complex aetiology for a heterogeneous disorder
-
Folstein SE, Rosen-Sheidley B. 2001. Genetics of autism: Complex aetiology for a heterogeneous disorder. Nat Rev Genet 2:943-955.
-
(2001)
Nat Rev Genet
, vol.2
, pp. 943-955
-
-
Folstein, S.E.1
Rosen-Sheidley, B.2
-
11
-
-
33845797961
-
The genetics of autistic disorders and its clinical relevance: A review of the literature
-
Freitag CM. 2007. The genetics of autistic disorders and its clinical relevance: A review of the literature. Mol Psychiatry 12:2-22.
-
(2007)
Mol Psychiatry
, vol.12
, pp. 2-22
-
-
Freitag, C.M.1
-
12
-
-
18444369013
-
The structure of haplotype blocks in the human genome
-
Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D. 2002. The structure of haplotype blocks in the human genome. Science 296:2225-2229.
-
(2002)
Science
, vol.296
, pp. 2225-2229
-
-
Gabriel, S.B.1
Schaffner, S.F.2
Nguyen, H.3
Moore, J.M.4
Roy, J.5
Blumenstiel, B.6
Higgins, J.7
DeFelice, M.8
Lochner, A.9
Faggart, M.10
Liu-Cordero, S.N.11
Rotimi, C.12
Adeyemo, A.13
Cooper, R.14
Ward, R.15
Lander, E.S.16
Daly, M.J.17
Altshuler, D.18
-
13
-
-
0034991011
-
The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression
-
Herzing LB, Kim SJ, Cook EH Jr, Ledbetter DH. 2001. The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression. Am J Hum Genet 68:1501-1505.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1501-1505
-
-
Herzing, L.B.1
Kim, S.J.2
Cook Jr, E.H.3
Ledbetter, D.H.4
-
14
-
-
7644228489
-
The usefulness of the child behavior questionnaire revised (CBQ-R) as a supplementary scale for diagnosis of pervasive developmental disorders
-
Japanese
-
Izutsu T, Osada H, Tachimori H, Naganuma Y, Kato S, Kurita H. 2001. The usefulness of the child behavior questionnaire revised (CBQ-R) as a supplementary scale for diagnosis of pervasive developmental disorders. Rinsyo-Seishin Igaku 30:525-532 (Japanese).
-
(2001)
Rinsyo-Seishin Igaku
, vol.30
, pp. 525-532
-
-
Izutsu, T.1
Osada, H.2
Tachimori, H.3
Naganuma, Y.4
Kato, S.5
Kurita, H.6
-
15
-
-
0037040481
-
Mutation screening and transmission disequilibrium study of ATP10C in autism
-
Kim SJ, Herzing LBK, Veenstra-VanderWeele J, Lord C, Courchesne R, Leventhal BL, Ledbetter DH, Courchesne E, Cook EH Jr. 2002. Mutation screening and transmission disequilibrium study of ATP10C in autism. Am J Med Genet 114:137-143.
-
(2002)
Am J Med Genet
, vol.114
, pp. 137-143
-
-
Kim, S.J.1
Herzing, L.B.K.2
Veenstra-VanderWeele, J.3
Lord, C.4
Courchesne, R.5
Leventhal, B.L.6
Ledbetter, D.H.7
Courchesne, E.8
Cook Jr., E.H.9
-
16
-
-
30844442607
-
The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C
-
Kishore S, Stamm S. 2006. The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science 311:230-232.
-
(2006)
Science
, vol.311
, pp. 230-232
-
-
Kishore, S.1
Stamm, S.2
-
17
-
-
0024619007
-
Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
-
Knoll JH, Nocholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA. 1989. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 32:285-290.
-
(1989)
Am J Med Genet
, vol.32
, pp. 285-290
-
-
Knoll, J.H.1
Nocholls, R.D.2
Magenis, R.E.3
Graham Jr, J.M.4
Lalande, M.5
Latt, S.A.6
-
18
-
-
0000686152
-
The interaction of selection and linkage. I. General considerations; heterotic models
-
Lewontin RC. 1964. The interaction of selection and linkage. I. General considerations; heterotic models. Genetics 120:849-852.
-
(1964)
Genetics
, vol.120
, pp. 849-852
-
-
Lewontin, R.C.1
-
19
-
-
0024369122
-
Autism diagnostic observation schedule: A standardized observation of communicative and social behavior
-
Lord C, Rutter M, Goode S, Heemsbergen J, Jordan H, Mawhood L, et al. 1989. Autism diagnostic observation schedule: A standardized observation of communicative and social behavior. J Autism Dev Disord 19:185-212.
-
(1989)
J Autism Dev Disord
, vol.19
, pp. 185-212
-
-
Lord, C.1
Rutter, M.2
Goode, S.3
Heemsbergen, J.4
Jordan, H.5
Mawhood, L.6
-
20
-
-
0027997172
-
Autismdiagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
-
Lord C, Rutter M, Le Couteur A. 1994. Autismdiagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24:659-685.
-
(1994)
J Autism Dev Disord
, vol.24
, pp. 659-685
-
-
Lord, C.1
Rutter, M.2
Le Couteur, A.3
-
21
-
-
0035417396
-
Linkage disequilibriumat the Angelman syndrome gene UBE3A in autism families
-
Nurmi EL, Bradford Y, Chen YH, Hall J, Arnone B, Gardiner MB, Hutcheson HB, Gilbert JR, Pericak-Vance MA, Copeland-Yates SA, Michaelis RC, Wassink TH, Santangelo SL, Sheffield VC, Piven J, Folstein SE, Haines JL, Sutcliffe JS. 2001. Linkage disequilibriumat the Angelman syndrome gene UBE3A in autism families. Genomics 77:105-113.
-
(2001)
Genomics
, vol.77
, pp. 105-113
-
-
Nurmi, E.L.1
Bradford, Y.2
Chen, Y.H.3
Hall, J.4
Arnone, B.5
Gardiner, M.B.6
Hutcheson, H.B.7
Gilbert, J.R.8
Pericak-Vance, M.A.9
Copeland-Yates, S.A.10
Michaelis, R.C.11
Wassink, T.H.12
Santangelo, S.L.13
Sheffield, V.C.14
Piven, J.15
Folstein, S.E.16
Haines, J.L.17
Sutcliffe, J.S.18
-
22
-
-
0041847015
-
Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism
-
Nurmi EL, Amin T, Olson LM, Jacobs MM, McCauley JL, Lam AY, Organ EL, Folstein SE, Haines JL, Sutcliffe JS. 2003. Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism. Mol Psychiatry 8:624-634.
-
(2003)
Mol Psychiatry
, vol.8
, pp. 624-634
-
-
Nurmi, E.L.1
Amin, T.2
Olson, L.M.3
Jacobs, M.M.4
McCauley, J.L.5
Lam, A.Y.6
Organ, E.L.7
Folstein, S.E.8
Haines, J.L.9
Sutcliffe, J.S.10
-
23
-
-
0035509699
-
The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
-
Runte M, Huttenhofer A, Gross S, Kiefmann M, Horsthemke B, Buiting K. 2001. The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Hum Mol Genet 10:2687-2700.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2687-2700
-
-
Runte, M.1
Huttenhofer, A.2
Gross, S.3
Kiefmann, M.4
Horsthemke, B.5
Buiting, K.6
-
24
-
-
2942744481
-
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome
-
Runte M, Kroisel PM, Gillessen-Kaesbach G, Varon R, Horn D, Cohen MY, Wagstaff J, Horsthemke B, Buiting K. 2004. SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. Hum Genet 114:553-561.
-
(2004)
Hum Genet
, vol.114
, pp. 553-561
-
-
Runte, M.1
Kroisel, P.M.2
Gillessen-Kaesbach, G.3
Varon, R.4
Horn, D.5
Cohen, M.Y.6
Wagstaff, J.7
Horsthemke, B.8
Buiting, K.9
-
25
-
-
0036844238
-
Distribution of recombination crossovers and the origin of haplotype blocks: The interplay of population history, recombination, and mutation
-
Wang N, Akey JM, Zhang K, Chakraborty R, Jin L. 2002. Distribution of recombination crossovers and the origin of haplotype blocks: The interplay of population history, recombination, and mutation. Am J Hum Genet 71:1227-1234.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1227-1234
-
-
Wang, N.1
Akey, J.M.2
Zhang, K.3
Chakraborty, R.4
Jin, L.5
|