-
1
-
-
79957878194
-
RAI1, the Smith-Magenis, and Potocki-Lupski syndromes
-
In: Epstein CJ, Erickson RP, Wynshaw-Boris A, editors. New York: Oxford University Press.
-
Bi W, Lupski JR. 2008. RAI1, the Smith-Magenis, and Potocki-Lupski syndromes. In: Epstein CJ, Erickson RP, Wynshaw-Boris A, editors. Inborn errors of development. New York: Oxford University Press.
-
(2008)
Inborn errors of development
-
-
Bi, W.1
Lupski, J.R.2
-
2
-
-
1542316148
-
Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith-Magenis syndrome
-
Boddaert N, De Leersnyder H, Bourgeois M, Munnich A, Brunelle F, Zilbovicius M. 2004. Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith-Magenis syndrome. Neuroimage 21: 1021-1025.
-
(2004)
Neuroimage
, vol.21
, pp. 1021-1025
-
-
Boddaert, N.1
De Leersnyder, H.2
Bourgeois, M.3
Munnich, A.4
Brunelle, F.5
Zilbovicius, M.6
-
3
-
-
34748846346
-
C57BL/6J and DBA/2J mice vary in lick rate and ingestive microstructure
-
Boughter JD Jr, Baird JP, Bryant J, St John SJ, Heck D. 2007. C57BL/6J and DBA/2J mice vary in lick rate and ingestive microstructure. Genes Brain Behav 6: 619-627.
-
(2007)
Genes Brain Behav
, vol.6
, pp. 619-627
-
-
Boughter Jr., J.D.1
Baird, J.P.2
Bryant, J.3
St John, S.J.4
Heck, D.5
-
4
-
-
56749154242
-
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
-
Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. 2008. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 40: 1466-1471.
-
(2008)
Nat Genet
, vol.40
, pp. 1466-1471
-
-
Brunetti-Pierri, N.1
Berg, J.S.2
Scaglia, F.3
Belmont, J.4
Bacino, C.A.5
Sahoo, T.6
Lalani, S.R.7
Graham, B.8
Lee, B.9
Shinawi, M.10
Shen, J.11
Kang, S.H.12
Pursley, A.13
Lotze, T.14
Kennedy, G.15
Lansky-Shafer, S.16
Weaver, C.17
Roeder, E.R.18
Grebe, T.A.19
Arnold, G.L.20
Hutchison, T.21
Reimschisel, T.22
Amato, S.23
Geragthy, M.T.24
Innis, J.W.25
Obersztyn, E.26
Nowakowska, B.27
Rosengren, S.S.28
Bader, P.I.29
Grange, D.K.30
Naqvi, S.31
Garnica, A.D.32
Bernes, S.M.33
Fong, C.T.34
Summers, A.35
Walters, W.D.36
Lupski, J.R.37
Stankiewicz, P.38
Cheung, S.W.39
Patel, A.40
more..
-
5
-
-
77954421919
-
Cerebellar cortical output encodes temporal aspects of rhythmic licking movements and is necessary for normal licking frequency
-
Bryant JL, Boughter JD, Gong S, LeDoux MS, Heck DH. 2010. Cerebellar cortical output encodes temporal aspects of rhythmic licking movements and is necessary for normal licking frequency. Eur J Neurosci 32: 41-52.
-
(2010)
Eur J Neurosci
, vol.32
, pp. 41-52
-
-
Bryant, J.L.1
Boughter, J.D.2
Gong, S.3
LeDoux, M.S.4
Heck, D.H.5
-
6
-
-
51649107017
-
Rare chromosomal deletions and duplications increase risk of schizophrenia
-
Consortium IS. 2008. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455: 237-241.
-
(2008)
Nature
, vol.455
, pp. 237-241
-
-
Consortium, I.S.1
-
7
-
-
0009703087
-
Behavioral phenotypes of inbred mouse strains: Implications and recommendations for molecular studies
-
Crawley JN, Belknap JK, Collins A, Crabbe JC, Frankel W, Henderson N, Hitzemann RJ, Maxson SC, Miner LL, Silva AJ, Wehner JM, Wynshaw-Boris A, Paylor R. 1997. Behavioral phenotypes of inbred mouse strains: Implications and recommendations for molecular studies. Psychopharmacology (Berl) 132: 107-124.
-
(1997)
Psychopharmacology (Berl)
, vol.132
, pp. 107-124
-
-
Crawley, J.N.1
Belknap, J.K.2
Collins, A.3
Crabbe, J.C.4
Frankel, W.5
Henderson, N.6
Hitzemann, R.J.7
Maxson, S.C.8
Miner, L.L.9
Silva, A.J.10
Wehner, J.M.11
Wynshaw-Boris, A.12
Paylor, R.13
-
8
-
-
0033763695
-
The functional neuroanatomy of social behaviour: Changes in cerebral blood flow when people with autistic disorder process facial expressions
-
Critchley HD, Daly EM, Bullmore ET, Williams SC, Van Amelsvoort T, Robertson DM, Rowe A, Phillips M, McAlonan G, Howlin P, Murphy DG. 2000. The functional neuroanatomy of social behaviour: Changes in cerebral blood flow when people with autistic disorder process facial expressions. Brain 123: 2203-2212.
-
(2000)
Brain
, vol.123
, pp. 2203-2212
-
-
Critchley, H.D.1
Daly, E.M.2
Bullmore, E.T.3
Williams, S.C.4
Van Amelsvoort, T.5
Robertson, D.M.6
Rowe, A.7
Phillips, M.8
McAlonan, G.9
Howlin, P.10
Murphy, D.G.11
-
9
-
-
0035859254
-
Otorhinolaringologic manifestation of Smith-Magenis syndrome
-
Di Cicco M, Padoan R, Felisati G, Dilani D, Moretti E, Guerneri S, Selicorni A. 2001. Otorhinolaringologic manifestation of Smith-Magenis syndrome. Int J Pediatr Otorhinolaryngol 59: 147-150.
-
(2001)
Int J Pediatr Otorhinolaryngol
, vol.59
, pp. 147-150
-
-
Di Cicco, M.1
Padoan, R.2
Felisati, G.3
Dilani, D.4
Moretti, E.5
Guerneri, S.6
Selicorni, A.7
-
10
-
-
34249655697
-
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: A meta-analysis of 105 cases
-
Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith AC, Elsea SH. 2007. Gender, genotype, and phenotype differences in Smith-Magenis syndrome: A meta-analysis of 105 cases. Clin Genet 71: 540-550.
-
(2007)
Clin Genet
, vol.71
, pp. 540-550
-
-
Edelman, E.A.1
Girirajan, S.2
Finucane, B.3
Patel, P.I.4
Lupski, J.R.5
Smith, A.C.6
Elsea, S.H.7
-
12
-
-
84867771758
-
Searching for Potocki-Lupski syndrome phenotype: A patient with language impairment and no autism
-
Epub ahread of print].
-
Ercan-Sencicek A, Wright NRD, Frost SJ, Fulbright RK, Felsenfeld S, Hart L, Landl N, Mencl EW, Sanders SJ, Pugh KR, State MW, Grigorenko EL. 2011. Searching for Potocki-Lupski syndrome phenotype: A patient with language impairment and no autism. Brain and Development [Epub ahread of print].
-
(2011)
Brain and Development
-
-
Ercan-Sencicek, A.1
Wright, N.R.D.2
Frost, S.J.3
Fulbright, R.K.4
Felsenfeld, S.5
Hart, L.6
Landl, N.7
Mencl, E.W.8
Sanders, S.J.9
Pugh, K.R.10
State, M.W.11
Grigorenko, E.L.12
-
13
-
-
84864666011
-
Consensus paper: Pathological role of the cerebellum in autism
-
Epub ahead of print].
-
Fatemi SH, Aldinger KA, Ashwood P, Bauman ML, Blaha CD, Blatt GJ, Chauhan A, Chauhan V, Dager SR, Dickson PE, Estes AM, Goldowitz D, Heck DH, Kemper TL, King BH, Martin LA, Millen KJ, Mittleman G, Mosconi MW, Persico AM, Sweeney JA, Webb SJ, Welsh JP. 2012. Consensus paper: Pathological role of the cerebellum in autism. Cerebellum [Epub ahead of print].
-
(2012)
Cerebellum
-
-
Fatemi, S.H.1
Aldinger, K.A.2
Ashwood, P.3
Bauman, M.L.4
Blaha, C.D.5
Blatt, G.J.6
Chauhan, A.7
Chauhan, V.8
Dager, S.R.9
Dickson, P.E.10
Estes, A.M.11
Goldowitz, D.12
Heck, D.H.13
Kemper, T.L.14
King, B.H.15
Martin, L.A.16
Millen, K.J.17
Mittleman, G.18
Mosconi, M.W.19
Persico, A.M.20
Sweeney, J.A.21
Webb, S.J.22
Welsh, J.P.23
more..
-
14
-
-
38949126888
-
Three new patients with dup(17)(p11.2p11.2) without autism
-
Greco D, Romano C, Reitano S, Barone C, Benedetto DD, Castiglia L, Fichera M, Galesi O, Zingale M, Buono S, Uliana V, Caselli R, Canitano R, Hayek G, Renieri A. 2008. Three new patients with dup(17)(p11.2p11.2) without autism. Clin Genet 73: 294-296.
-
(2008)
Clin Genet
, vol.73
, pp. 294-296
-
-
Greco, D.1
Romano, C.2
Reitano, S.3
Barone, C.4
Benedetto, D.D.5
Castiglia, L.6
Fichera, M.7
Galesi, O.8
Zingale, M.9
Buono, S.10
Uliana, V.11
Caselli, R.12
Canitano, R.13
Hayek, G.14
Renieri, A.15
-
15
-
-
0029920807
-
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
-
Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA, Williamson D, Brown F, Dutton R, McCluggage C, Friedman E, Sulek M, Lupski JR. 1996. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am J Med Genet 62: 247-254.
-
(1996)
Am J Med Genet
, vol.62
, pp. 247-254
-
-
Greenberg, F.1
Lewis, R.A.2
Potocki, L.3
Glaze, D.4
Parke, J.5
Killian, J.6
Murphy, M.A.7
Williamson, D.8
Brown, F.9
Dutton, R.10
McCluggage, C.11
Friedman, E.12
Sulek, M.13
Lupski, J.R.14
-
16
-
-
33646125422
-
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2)
-
Gropman AL, Duncan WC, Smith AC. 2006. Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). Pediatr Neurol 34: 337-350.
-
(2006)
Pediatr Neurol
, vol.34
, pp. 337-350
-
-
Gropman, A.L.1
Duncan, W.C.2
Smith, A.C.3
-
17
-
-
33646229778
-
A low-cost solution to measure mouse licking in an electrophysiological setup with a standard analog-to-digital converter
-
Hayar A, Bryant JL, Boughter JD, Heck DH. 2006. A low-cost solution to measure mouse licking in an electrophysiological setup with a standard analog-to-digital converter. J Neurosci Methods 153: 203-207.
-
(2006)
J Neurosci Methods
, vol.153
, pp. 203-207
-
-
Hayar, A.1
Bryant, J.L.2
Boughter, J.D.3
Heck, D.H.4
-
18
-
-
46249111350
-
Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors
-
Heck DH, Zhao Y, Roy S, LeDoux MS, Reiter LT. 2008. Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors. Hum Mol Genet 17: 2181-2189.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2181-2189
-
-
Heck, D.H.1
Zhao, Y.2
Roy, S.3
LeDoux, M.S.4
Reiter, L.T.5
-
19
-
-
80054754473
-
Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism
-
Horev G, Ellegood J, Lerch JP, Son YE, Muthuswamy L, Vogel H, Krieger AM, Buja A, Henkelman RM, Wigler M, Mills AA. 2011. Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism. Proc Natl Acad Sci U S A 108: 17076-17081.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 17076-17081
-
-
Horev, G.1
Ellegood, J.2
Lerch, J.P.3
Son, Y.E.4
Muthuswamy, L.5
Vogel, H.6
Krieger, A.M.7
Buja, A.8
Henkelman, R.M.9
Wigler, M.10
Mills, A.A.11
-
20
-
-
84863685348
-
A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet induced obesity
-
Lacaria M, Saha P, Potocki L, Bi W, Yan J, Girirajan S, Burns B, Walz K, Elsea S, Chan L, Lupski J, Gu W. 2012a. A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet induced obesity PLoS Genet 8: e1002713.
-
(2012)
PLoS Genet
, vol.8
-
-
Lacaria, M.1
Saha, P.2
Potocki, L.3
Bi, W.4
Yan, J.5
Girirajan, S.6
Burns, B.7
Walz, K.8
Elsea, S.9
Chan, L.10
Lupski, J.11
Gu, W.12
-
21
-
-
84864010114
-
Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like trait
-
Epub ahead of print].
-
Lacaria M, Spencer C, Gu W, Paylor R, Lupski J. 2012b. Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like trait. Hum Mol Genet [Epub ahead of print].
-
(2012)
Hum Mol Genet
-
-
Lacaria, M.1
Spencer, C.2
Gu, W.3
Paylor, R.4
Lupski, J.5
-
22
-
-
77952690350
-
The clinical context of copy number variation in the human genome
-
Lee C, Scherer SW. 2010. The clinical context of copy number variation in the human genome. Expert Rev Mol Med 12: e8.
-
(2010)
Expert Rev Mol Med
, vol.12
-
-
Lee, C.1
Scherer, S.W.2
-
23
-
-
51649107515
-
Schizophrenia: Incriminating genomic evidence
-
Lupski JR. 2008. Schizophrenia: Incriminating genomic evidence. Nature 455: 178-179.
-
(2008)
Nature
, vol.455
, pp. 178-179
-
-
Lupski, J.R.1
-
24
-
-
84879238658
-
-
Insights for autism from Charcot-Marie-Tooth disease: Simons foundation autism research initiative. Viewpoint (September 27, 2011). .
-
Lupski JR. 2011. Insights for autism from Charcot-Marie-Tooth disease: Simons foundation autism research initiative. Viewpoint (September 27, 2011). http://sfari.org/news-and-opinion/viewpoint/2011/insights-for-autism-from-charcot-marie-tooth-disease.
-
(2011)
-
-
Lupski, J.R.1
-
25
-
-
70350626873
-
Microduplications of 16p11.2 are associated with schizophrenia
-
McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, Perkins DO, Dickel DE, Kusenda M, Krastoshevsky O, Krause V, Kumar RA, Grozeva D, Malhotra D, Walsh T, Zackai EH, Kaplan P, Ganesh J, Krantz ID, Spinner NB, Roccanova P, Bhandari A, Pavon K, Lakshmi B, Leotta A, Kendall J, Lee YH, Vacic V, Gary S, Iakoucheva LM, Crow TJ, Christian SL, Lieberman JA, Stroup TS, Lehtimaki T, Puura K, Haldeman-Englert C, Pearl J, Goodell M, Willour VL, Derosse P, Steele J, Kassem L, Wolff J, Chitkara N, McMahon FJ, Malhotra AK, Potash JB, Schulze TG, Nothen MM, Cichon S, Rietschel M, Leibenluft E, Kustanovich V, Lajonchere CM, Sutcliffe JS, Skuse D, Gill M, Gallagher L, Mendell NR, Craddock N, Owen MJ, O'Donovan MC, Shaikh TH, Susser E, Delisi LE, Sullivan PF, Deutsch CK, Rapoport J, Levy DL, King MC, Sebat J. 2009. Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 41: 1223-1227.
-
(2009)
Nat Genet
, vol.41
, pp. 1223-1227
-
-
McCarthy, S.E.1
Makarov, V.2
Kirov, G.3
Addington, A.M.4
McClellan, J.5
Yoon, S.6
Perkins, D.O.7
Dickel, D.E.8
Kusenda, M.9
Krastoshevsky, O.10
Krause, V.11
Kumar, R.A.12
Grozeva, D.13
Malhotra, D.14
Walsh, T.15
Zackai, E.H.16
Kaplan, P.17
Ganesh, J.18
Krantz, I.D.19
Spinner, N.B.20
Roccanova, P.21
Bhandari, A.22
Pavon, K.23
Lakshmi, B.24
Leotta, A.25
Kendall, J.26
Lee, Y.H.27
Vacic, V.28
Gary, S.29
Iakoucheva, L.M.30
Crow, T.J.31
Christian, S.L.32
Lieberman, J.A.33
Stroup, T.S.34
Lehtimaki, T.35
Puura, K.36
Haldeman-Englert, C.37
Pearl, J.38
Goodell, M.39
Willour, V.L.40
Derosse, P.41
Steele, J.42
Kassem, L.43
Wolff, J.44
Chitkara, N.45
McMahon, F.J.46
Malhotra, A.K.47
Potash, J.B.48
Schulze, T.G.49
Nothen, M.M.50
Cichon, S.51
Rietschel, M.52
Leibenluft, E.53
Kustanovich, V.54
Lajonchere, C.M.55
Sutcliffe, J.S.56
Skuse, D.57
Gill, M.58
Gallagher, L.59
Mendell, N.R.60
Craddock, N.61
Owen, M.J.62
O'Donovan, M.C.63
Shaikh, T.H.64
Susser, E.65
Delisi, L.E.66
Sullivan, P.F.67
Deutsch, C.K.68
Rapoport, J.69
Levy, D.L.70
King, M.C.71
Sebat, J.72
more..
-
26
-
-
33845726173
-
Clinical implications of cross-system interactions
-
McFarland DH, Tremblay P. 2006. Clinical implications of cross-system interactions. Semin Speech Lang 27: 300-309.
-
(2006)
Semin Speech Lang
, vol.27
, pp. 300-309
-
-
McFarland, D.H.1
Tremblay, P.2
-
27
-
-
18644368306
-
Neonatal feeding performance as a predictor of neurodevelopmental outcome at 18 months
-
Mizuno K, Ueda A. 2005. Neonatal feeding performance as a predictor of neurodevelopmental outcome at 18 months. Dev Med Child Neurol 47: 299-304.
-
(2005)
Dev Med Child Neurol
, vol.47
, pp. 299-304
-
-
Mizuno, K.1
Ueda, A.2
-
28
-
-
48249149836
-
Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome
-
Molina J, Carmona-Mora P, Chrast J, Krall PM, Canales CP, Lupski JR, Reymond A, Walz K. 2008. Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome. Hum Mol Genet 17: 2486-2495.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2486-2495
-
-
Molina, J.1
Carmona-Mora, P.2
Chrast, J.3
Krall, P.M.4
Canales, C.P.5
Lupski, J.R.6
Reymond, A.7
Walz, K.8
-
29
-
-
29144444413
-
The use of behavioral test batteries, II: Effect of test interval
-
Paylor R, Spencer CM, Yuva-Paylor LA, Pieke-Dahl S. 2006. The use of behavioral test batteries, II: Effect of test interval. Physiol Behav 87: 95-102.
-
(2006)
Physiol Behav
, vol.87
, pp. 95-102
-
-
Paylor, R.1
Spencer, C.M.2
Yuva-Paylor, L.A.3
Pieke-Dahl, S.4
-
30
-
-
0033987366
-
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion
-
Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. 2000. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 24: 84-87.
-
(2000)
Nat Genet
, vol.24
, pp. 84-87
-
-
Potocki, L.1
Chen, K.S.2
Park, S.S.3
Osterholm, D.E.4
Withers, M.A.5
Kimonis, V.6
Summers, A.M.7
Meschino, W.S.8
Anyane-Yeboa, K.9
Kashork, C.D.10
Shaffer, L.G.11
Lupski, J.R.12
-
31
-
-
34147169956
-
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype
-
Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. 2007. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80: 633-649.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 633-649
-
-
Potocki, L.1
Bi, W.2
Treadwell-Deering, D.3
Carvalho, C.M.4
Eifert, A.5
Friedman, E.M.6
Glaze, D.7
Krull, K.8
Lee, J.A.9
Lewis, R.A.10
Mendoza-Londono, R.11
Robbins-Furman, P.12
Shaw, C.13
Shi, X.14
Weissenberger, G.15
Withers, M.16
Yatsenko, S.A.17
Zackai, E.H.18
Stankiewicz, P.19
Lupski, J.R.20
more..
-
32
-
-
78649919228
-
Phenotypic consequences of copy number variation: Insights from Smith-Magenis and Potocki-Lupski syndrome mouse models
-
Ricard G, Molina J, Chrast J, Gu W, Gheldof N, Pradervand S, Schutz F, Young JI, Lupski JR, Reymond A, Walz K. 2010. Phenotypic consequences of copy number variation: Insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. PLoS Biol 8: e1000543.
-
(2010)
PLoS Biol
, vol.8
-
-
Ricard, G.1
Molina, J.2
Chrast, J.3
Gu, W.4
Gheldof, N.5
Pradervand, S.6
Schutz, F.7
Young, J.I.8
Lupski, J.R.9
Reymond, A.10
Walz, K.11
-
33
-
-
83055184741
-
Comprehensive motor testing in Fmr1-KO mice exposes temporal defects in oromotor coordination
-
Roy S, Zhao Y, Allensworth M, Farook MF, LeDoux MS, Reiter LT, Heck DH. 2011. Comprehensive motor testing in Fmr1-KO mice exposes temporal defects in oromotor coordination. Behav Neurosci 125: 962-969.
-
(2011)
Behav Neurosci
, vol.125
, pp. 962-969
-
-
Roy, S.1
Zhao, Y.2
Allensworth, M.3
Farook, M.F.4
LeDoux, M.S.5
Reiter, L.T.6
Heck, D.H.7
-
34
-
-
77953704493
-
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
-
Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR. 2010. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 47: 332-341.
-
(2010)
J Med Genet
, vol.47
, pp. 332-341
-
-
Shinawi, M.1
Liu, P.2
Kang, S.H.3
Shen, J.4
Belmont, J.W.5
Scott, D.A.6
Probst, F.J.7
Craigen, W.J.8
Graham, B.H.9
Pursley, A.10
Clark, G.11
Lee, J.12
Proud, M.13
Stocco, A.14
Rodriguez, D.L.15
Kozel, B.A.16
Sparagana, S.17
Roeder, E.R.18
McGrew, S.G.19
Kurczynski, T.W.20
Allison, L.J.21
Amato, S.22
Savage, S.23
Patel, A.24
Stankiewicz, P.25
Beaudet, A.L.26
Cheung, S.W.27
Lupski, J.R.28
more..
-
35
-
-
0022543280
-
Interstitial deletion of (17)(p11.2p11.2) in nine patients
-
Smith AC, McGavran L, Robinson J, Waldstein G, Macfarlane J, Zonona J, Reiss J, Lahr M, Allen L, Magenis E. 1986. Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet 24: 393-414.
-
(1986)
Am J Med Genet
, vol.24
, pp. 393-414
-
-
Smith, A.C.1
McGavran, L.2
Robinson, J.3
Waldstein, G.4
Macfarlane, J.5
Zonona, J.6
Reiss, J.7
Lahr, M.8
Allen, L.9
Magenis, E.10
-
36
-
-
0032574468
-
Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2)
-
Smith AC, Dykens E, Greenberg F. 1998. Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2). Am J Med Genet 81: 179-185.
-
(1998)
Am J Med Genet
, vol.81
, pp. 179-185
-
-
Smith, A.C.1
Dykens, E.2
Greenberg, F.3
-
37
-
-
79952573456
-
Potocki-Lupski syndrome: A microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive
-
Soler-Alfonso C, Motil KJ, Turk CL, Robbins-Furman P, Friedman EM, Zhang F, Lupski JR, Fraley JK, Potocki L. 2011. Potocki-Lupski syndrome: A microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive. J Pediatr 158: 655-659.
-
(2011)
J Pediatr
, vol.158
, pp. 655-659
-
-
Soler-Alfonso, C.1
Motil, K.J.2
Turk, C.L.3
Robbins-Furman, P.4
Friedman, E.M.5
Zhang, F.6
Lupski, J.R.7
Fraley, J.K.8
Potocki, L.9
-
38
-
-
46649092318
-
Towards a neuroanatomy of autism: A systematic review and meta-analysis of structural magnetic resonance imaging studies
-
Stanfield AC, McIntosh AM, Spencer MD, Philip R, Gaur S, Lawrie SM. 2008. Towards a neuroanatomy of autism: A systematic review and meta-analysis of structural magnetic resonance imaging studies. Eur psychiatry 23: 289-299.
-
(2008)
Eur psychiatry
, vol.23
, pp. 289-299
-
-
Stanfield, A.C.1
McIntosh, A.M.2
Spencer, M.D.3
Philip, R.4
Gaur, S.5
Lawrie, S.M.6
-
39
-
-
77949831756
-
Structural variation in the human genome and its role in disease
-
Stankiewicz P, Lupski JR. 2010. Structural variation in the human genome and its role in disease. Annu Rev Med 61: 437-455.
-
(2010)
Annu Rev Med
, vol.61
, pp. 437-455
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
40
-
-
49949085933
-
Large recurrent microdeletions associated with schizophrenia
-
Stefansson H, Rujescu D, Cichon S, Pietilainen OP, Ingason A, Steinberg S, Fossdal R, Sigurdsson E, Sigmundsson T, Buizer-Voskamp JE, Hansen T, Jakobsen KD, Muglia P, Francks C, Matthews PM, Gylfason A, Halldorsson BV, Gudbjartsson D, Thorgeirsson TE, Sigurdsson A, Jonasdottir A, Jonasdottir A, Bjornsson A, Mattiasdottir S, Blondal T, Haraldsson M, Magnusdottir BB, Giegling I, Moller HJ, Hartmann A, Shianna KV, Ge D, Need AC, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Paunio T, Toulopoulou T, Bramon E, Di Forti M, Murray R, Ruggeri M, Vassos E, Tosato S, Walshe M, Li T, Vasilescu C, Muhleisen TW, Wang AG, Ullum H, Djurovic S, Melle I, Olesen J, Kiemeney LA, Franke B, Sabatti C, Freimer NB, Gulcher JR, Thorsteinsdottir U, Kong A, Andreassen OA, Ophoff RA, Georgi A, Rietschel M, Werge T, Petursson H, Goldstein DB, Nothen MM, Peltonen L, Collier DA, St Clair D, Stefansson K. 2008. Large recurrent microdeletions associated with schizophrenia. Nature 455: 232-236.
-
(2008)
Nature
, vol.455
, pp. 232-236
-
-
Stefansson, H.1
Rujescu, D.2
Cichon, S.3
Pietilainen, O.P.4
Ingason, A.5
Steinberg, S.6
Fossdal, R.7
Sigurdsson, E.8
Sigmundsson, T.9
Buizer-Voskamp, J.E.10
Hansen, T.11
Jakobsen, K.D.12
Muglia, P.13
Francks, C.14
Matthews, P.M.15
Gylfason, A.16
Halldorsson, B.V.17
Gudbjartsson, D.18
Thorgeirsson, T.E.19
Sigurdsson, A.20
Jonasdottir, A.21
Jonasdottir, A.22
Bjornsson, A.23
Mattiasdottir, S.24
Blondal, T.25
Haraldsson, M.26
Magnusdottir, B.B.27
Giegling, I.28
Moller, H.J.29
Hartmann, A.30
Shianna, K.V.31
Ge, D.32
Need, A.C.33
Crombie, C.34
Fraser, G.35
Walker, N.36
Lonnqvist, J.37
Suvisaari, J.38
Tuulio-Henriksson, A.39
Paunio, T.40
Toulopoulou, T.41
Bramon, E.42
Di Forti, M.43
Murray, R.44
Ruggeri, M.45
Vassos, E.46
Tosato, S.47
Walshe, M.48
Li, T.49
Vasilescu, C.50
Muhleisen, T.W.51
Wang, A.G.52
Ullum, H.53
Djurovic, S.54
Melle, I.55
Olesen, J.56
Kiemeney, L.A.57
Franke, B.58
Sabatti, C.59
Freimer, N.B.60
Gulcher, J.R.61
Thorsteinsdottir, U.62
Kong, A.63
Andreassen, O.A.64
Ophoff, R.A.65
Georgi, A.66
Rietschel, M.67
Werge, T.68
Petursson, H.69
Goldstein, D.B.70
Nothen, M.M.71
Peltonen, L.72
Collier, D.A.73
St Clair, D.74
Stefansson, K.75
more..
-
42
-
-
76849117308
-
Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2)
-
Treadwell-Deering DE, Powell MP, Potocki L. 2010. Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2). J Dev Behav Pediatr 31: 137-143.
-
(2010)
J Dev Behav Pediatr
, vol.31
, pp. 137-143
-
-
Treadwell-Deering, D.E.1
Powell, M.P.2
Potocki, L.3
-
43
-
-
0037965627
-
Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: Phenotypic consequences of gene dosage imbalance
-
Walz K, Caratini-Rivera S, Bi W, Fonseca P, Mansouri DL, Lynch J, Vogel H, Noebels JL, Bradley A, Lupski JR. 2003. Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: Phenotypic consequences of gene dosage imbalance. Mol Cell Biol 23: 3646-3655.
-
(2003)
Mol Cell Biol
, vol.23
, pp. 3646-3655
-
-
Walz, K.1
Caratini-Rivera, S.2
Bi, W.3
Fonseca, P.4
Mansouri, D.L.5
Lynch, J.6
Vogel, H.7
Noebels, J.L.8
Bradley, A.9
Lupski, J.R.10
-
44
-
-
1242330479
-
Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2)
-
Walz K, Spencer C, Kaasik K, Lee CC, Lupski JR, Paylor R. 2004. Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2). Hum Mol Genet 13: 367-378.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 367-378
-
-
Walz, K.1
Spencer, C.2
Kaasik, K.3
Lee, C.C.4
Lupski, J.R.5
Paylor, R.6
-
45
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ. 2008. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358: 667-675.
-
(2008)
N Engl J Med
, vol.358
, 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.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..
-
46
-
-
0028946285
-
Dynamic organization of motor control within the olivocerebellar system
-
Welsh JP, Lang EJ, Suglhara I, Llinas R. 1995. Dynamic organization of motor control within the olivocerebellar system. Nature 374: 453-457.
-
(1995)
Nature
, vol.374
, pp. 453-457
-
-
Welsh, J.P.1
Lang, E.J.2
Suglhara, I.3
Llinas, R.4
-
47
-
-
8444222330
-
Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome
-
Yan J, Keener VW, Bi W, Walz K, Bradley A, Justice MJ, Lupski JR. 2004. Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. Hum Mol Genet 13: 2613-2624.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2613-2624
-
-
Yan, J.1
Keener, V.W.2
Bi, W.3
Walz, K.4
Bradley, A.5
Justice, M.J.6
Lupski, J.R.7
-
48
-
-
33847191389
-
Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: Not all null alleles are alike
-
Yan J, Bi W, Lupski JR. 2007. Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: Not all null alleles are alike. Am J Hum Genet 80: 518-525.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 518-525
-
-
Yan, J.1
Bi, W.2
Lupski, J.R.3
-
49
-
-
70350221909
-
Copy number variation in human health, disease, and evolution
-
Zhang F, Gu W, Hurles ME, Lupski JR. 2009. Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet 10: 451-481.
-
(2009)
Annu Rev Genomics Hum Genet
, vol.10
, pp. 451-481
-
-
Zhang, F.1
Gu, W.2
Hurles, M.E.3
Lupski, J.R.4
|