-
1
-
-
38349112858
-
Hirschsprung disease, associated syndromes and genetics: a review
-
Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, et al. (2008) Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet 45: 1-14.
-
(2008)
J Med Genet
, vol.45
, pp. 1-14
-
-
Amiel, J.1
Sproat-Emison, E.2
Garcia-Barcelo, M.3
Lantieri, F.4
Burzynski, G.5
-
2
-
-
77955081986
-
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability
-
Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, et al. (2010) Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet 87: 60-74.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 60-74
-
-
Emison, E.S.1
Garcia-Barcelo, M.2
Grice, E.A.3
Lantieri, F.4
Amiel, J.5
-
3
-
-
62449175742
-
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease
-
Garcia-Barcelo MM, Tang CS, Ngan ES, Lui VC, Chen Y, et al. (2009) Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. Proc Natl Acad Sci U S A 106: 2694-2699.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 2694-2699
-
-
Garcia-Barcelo, M.M.1
Tang, C.S.2
Ngan, E.S.3
Lui, V.C.4
Chen, Y.5
-
4
-
-
17244383525
-
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
-
Emison ES, McCallion AS, Kashuk CS, Bush RT, Grice E, et al. (2005) A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 434: 857-863.
-
(2005)
Nature
, vol.434
, pp. 857-863
-
-
Emison, E.S.1
McCallion, A.S.2
Kashuk, C.S.3
Bush, R.T.4
Grice, E.5
-
5
-
-
51649107017
-
Rare chromosomal deletions and duplications increase risk of schizophrenia
-
(2008) Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455: 237-241.
-
(2008)
Nature
, vol.455
, pp. 237-241
-
-
-
6
-
-
76349083132
-
Large, rare chromosomal deletions associated with severe early-onset obesity
-
Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, et al. (2010) Large, rare chromosomal deletions associated with severe early-onset obesity. Nature 463: 666-670.
-
(2010)
Nature
, vol.463
, pp. 666-670
-
-
Bochukova, E.G.1
Huang, N.2
Keogh, J.3
Henning, E.4
Purmann, C.5
-
7
-
-
77954657070
-
Functional impact of global rare copy number variation in autism spectrum disorders
-
Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, et al. (2010) Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466: 368-372.
-
(2010)
Nature
, vol.466
, pp. 368-372
-
-
Pinto, D.1
Pagnamenta, A.T.2
Klei, L.3
Anney, R.4
Merico, D.5
-
8
-
-
66749168248
-
Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association
-
Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, et al. (2009) Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association. Hum Mutat 30: 771-775.
-
(2009)
Hum Mutat
, vol.30
, pp. 771-775
-
-
Arnold, S.1
Pelet, A.2
Amiel, J.3
Borrego, S.4
Hofstra, R.5
-
9
-
-
71549127423
-
A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique
-
Nunez-Torres R, Fernandez RM, Lopez-Alonso M, Antinolo G, Borrego S, (2009) A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique. BMC Med Genet 10: 119.
-
(2009)
BMC Med Genet
, vol.10
, pp. 119
-
-
Nunez-Torres, R.1
Fernandez, R.M.2
Lopez-Alonso, M.3
Antinolo, G.4
Borrego, S.5
-
10
-
-
60649085041
-
Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in 80 patients with Hirschsprung disease (using multiplex ligation-dependent probe amplification)
-
Serra A, Gorgens H, Alhadad K, Ziegler A, Fitze G, et al. (2009) Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in 80 patients with Hirschsprung disease (using multiplex ligation-dependent probe amplification). Ann Hum Genet 73: 147-151.
-
(2009)
Ann Hum Genet
, vol.73
, pp. 147-151
-
-
Serra, A.1
Gorgens, H.2
Alhadad, K.3
Ziegler, A.4
Fitze, G.5
-
11
-
-
79959355075
-
Copy number variants in candidate genes are genetic modifiers of hirschsprung disease
-
doi:10.1371/journal.pone.0021219
-
Jiang Q, Ho YY, Hao L, Nichols Berrios C, Chakravarti A, (2011) Copy number variants in candidate genes are genetic modifiers of hirschsprung disease. PLoS ONE 6: e21219 doi:10.1371/journal.pone.0021219.
-
(2011)
PLoS ONE
, vol.6
-
-
Jiang, Q.1
Ho, Y.Y.2
Hao, L.3
Nichols Berrios, C.4
Chakravarti, A.5
-
12
-
-
77950405093
-
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
-
Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, et al. (2010) Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 464: 713-720.
-
(2010)
Nature
, vol.464
, pp. 713-720
-
-
Craddock, N.1
Hurles, M.E.2
Cardin, N.3
Pearson, R.D.4
Plagnol, V.5
-
13
-
-
51449121623
-
Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features
-
Nowakowska B, Stankiewicz P, Obersztyn E, Ou Z, Li J, et al. (2008) Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features. Am J Med Genet A 146A: 2361-2369.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 2361-2369
-
-
Nowakowska, B.1
Stankiewicz, P.2
Obersztyn, E.3
Ou, Z.4
Li, J.5
-
14
-
-
33846898823
-
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients
-
Ballarati L, Rossi E, Bonati MT, Gimelli S, Maraschio P, et al. (2007) 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. J Med Genet 44: e60.
-
(2007)
J Med Genet
, vol.44
-
-
Ballarati, L.1
Rossi, E.2
Bonati, M.T.3
Gimelli, S.4
Maraschio, P.5
-
15
-
-
34548339637
-
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
-
Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, et al. (2007) Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 39: 1071-1073.
-
(2007)
Nat Genet
, vol.39
, pp. 1071-1073
-
-
Ballif, B.C.1
Hornor, S.A.2
Jenkins, E.3
Madan-Khetarpal, S.4
Surti, U.5
-
16
-
-
77952096810
-
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes
-
Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, et al. (2010) Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet 86: 707-718.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 707-718
-
-
Heinzen, E.L.1
Radtke, R.A.2
Urban, T.J.3
Cavalleri, G.L.4
Depondt, C.5
-
17
-
-
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, et al. (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
-
18
-
-
78649484216
-
A de novo paradigm for mental retardation
-
Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, et al. (2010) A de novo paradigm for mental retardation. Nat Genet 42: 1109-1112.
-
(2010)
Nat Genet
, vol.42
, pp. 1109-1112
-
-
Vissers, L.E.1
de Ligt, J.2
Gilissen, C.3
Janssen, I.4
Steehouwer, M.5
-
19
-
-
63749103524
-
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome
-
Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, et al. (2009) Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet 84: 542-549.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 542-549
-
-
Merrill, A.E.1
Merriman, B.2
Farrington-Rock, C.3
Camacho, N.4
Sebald, E.T.5
-
20
-
-
65549140785
-
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III
-
Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, et al. (2009) DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet 84: 706-711.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 706-711
-
-
Dagoneau, N.1
Goulet, M.2
Genevieve, D.3
Sznajer, Y.4
Martinovic, J.5
-
21
-
-
4444312892
-
Sonic hedgehog regulates the proliferation, differentiation, and migration of enteric neural crest cells in gut
-
Fu M, Lui VC, Sham MH, Pachnis V, Tam PK, (2004) Sonic hedgehog regulates the proliferation, differentiation, and migration of enteric neural crest cells in gut. J Cell Biol 166: 673-684.
-
(2004)
J Cell Biol
, vol.166
, pp. 673-684
-
-
Fu, M.1
Lui, V.C.2
Sham, M.H.3
Pachnis, V.4
Tam, P.K.5
-
22
-
-
43449136961
-
Endoderm-derived Sonic hedgehog and mesoderm Hand2 expression are required for enteric nervous system development in zebrafish
-
Reichenbach B, Delalande JM, Kolmogorova E, Prier A, Nguyen T, et al. (2008) Endoderm-derived Sonic hedgehog and mesoderm Hand2 expression are required for enteric nervous system development in zebrafish. Dev Biol 318: 52-64.
-
(2008)
Dev Biol
, vol.318
, pp. 52-64
-
-
Reichenbach, B.1
Delalande, J.M.2
Kolmogorova, E.3
Prier, A.4
Nguyen, T.5
-
23
-
-
79957611891
-
Complex interactions between genes controlling trafficking in primary cilia
-
Ocbina PJ, Eggenschwiler JT, Moskowitz I, Anderson KV, (2011) Complex interactions between genes controlling trafficking in primary cilia. Nat Genet 43: 547-553.
-
(2011)
Nat Genet
, vol.43
, pp. 547-553
-
-
Ocbina, P.J.1
Eggenschwiler, J.T.2
Moskowitz, I.3
Anderson, K.V.4
-
24
-
-
0033916281
-
Hedgehog signals regulate multiple aspects of gastrointestinal development
-
Ramalho-Santos M, Melton DA, McMahon AP, (2000) Hedgehog signals regulate multiple aspects of gastrointestinal development. Development 127: 2763-2772.
-
(2000)
Development
, vol.127
, pp. 2763-2772
-
-
Ramalho-Santos, M.1
Melton, D.A.2
McMahon, A.P.3
-
25
-
-
67749148222
-
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies
-
Korbel JO, Tirosh-Wagner T, Urban AE, Chen XN, Kasowski M, et al. (2009) The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc Natl Acad Sci U S A 106: 12031-12036.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 12031-12036
-
-
Korbel, J.O.1
Tirosh-Wagner, T.2
Urban, A.E.3
Chen, X.N.4
Kasowski, M.5
-
26
-
-
0031964775
-
DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system
-
Yamakawa K, Huot YK, Haendelt MA, Hubert R, Chen XN, et al. (1998) DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system. Hum Mol Genet 7: 227-237.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 227-237
-
-
Yamakawa, K.1
Huot, Y.K.2
Haendelt, M.A.3
Hubert, R.4
Chen, X.N.5
-
27
-
-
3042846766
-
Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM
-
Okamoto N, Del Maestro R, Valero R, Monros E, Poo P, et al. (2004) Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM. J Hum Genet 49: 334-337.
-
(2004)
J Hum Genet
, vol.49
, pp. 334-337
-
-
Okamoto, N.1
Del Maestro, R.2
Valero, R.3
Monros, E.4
Poo, P.5
-
28
-
-
33646126304
-
Expanding the phenotypic spectrum of L1CAM-associated disease
-
Basel-Vanagaite L, Straussberg R, Friez MJ, Inbar D, Korenreich L, et al. (2006) Expanding the phenotypic spectrum of L1CAM-associated disease. Clin Genet 69: 414-419.
-
(2006)
Clin Genet
, vol.69
, pp. 414-419
-
-
Basel-Vanagaite, L.1
Straussberg, R.2
Friez, M.J.3
Inbar, D.4
Korenreich, L.5
-
29
-
-
0025984377
-
Glycosylphosphatidylinositol anchored recognition molecules that function in axonal fasciculation, growth and guidance in the nervous system
-
Walsh FS, Doherty P, (1991) Glycosylphosphatidylinositol anchored recognition molecules that function in axonal fasciculation, growth and guidance in the nervous system. Cell Biol Int Rep 15: 1151-1166.
-
(1991)
Cell Biol Int Rep
, vol.15
, pp. 1151-1166
-
-
Walsh, F.S.1
Doherty, P.2
-
30
-
-
0035879770
-
Neural recognition molecule NB-2 of the contactin/F3 subgroup in rat: Specificity in neurite outgrowth-promoting activity and restricted expression in the brain regions
-
Ogawa J, Lee S, Itoh K, Nagata S, Machida T, et al. (2001) Neural recognition molecule NB-2 of the contactin/F3 subgroup in rat: Specificity in neurite outgrowth-promoting activity and restricted expression in the brain regions. J Neurosci Res 65: 100-110.
-
(2001)
J Neurosci Res
, vol.65
, pp. 100-110
-
-
Ogawa, J.1
Lee, S.2
Itoh, K.3
Nagata, S.4
Machida, T.5
-
31
-
-
18544365991
-
Segregation at three loci explains familial and population risk in Hirschsprung disease
-
Gabriel SB, Salomon R, Pelet A, Angrist M, Amiel J, et al. (2002) Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 31: 89-93.
-
(2002)
Nat Genet
, vol.31
, pp. 89-93
-
-
Gabriel, S.B.1
Salomon, R.2
Pelet, A.3
Angrist, M.4
Amiel, J.5
-
32
-
-
45749144781
-
Mapping of a Hirschsprung's disease locus in 3p21
-
Garcia-Barcelo MM, Fong PY, Tang CS, Miao XP, So MT, et al. (2008) Mapping of a Hirschsprung's disease locus in 3p21. Eur J Hum Genet 16: 833-840.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 833-840
-
-
Garcia-Barcelo, M.M.1
Fong, P.Y.2
Tang, C.S.3
Miao, X.P.4
So, M.T.5
-
33
-
-
33746850690
-
A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3
-
Brooks AS, Leegwater PA, Burzynski GM, Willems PJ, de Graaf B, et al. (2006) A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3. J Med Genet 43: e35.
-
(2006)
J Med Genet
, vol.43
-
-
Brooks, A.S.1
Leegwater, P.A.2
Burzynski, G.M.3
Willems, P.J.4
de Graaf, B.5
-
34
-
-
0034602646
-
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
-
Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, et al. (2000) A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci U S A 97: 268-273.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 268-273
-
-
Bolk, S.1
Pelet, A.2
Hofstra, R.M.3
Angrist, M.4
Salomon, R.5
-
35
-
-
77953443007
-
Fine mapping of the 9q31 Hirschsprung's disease locus
-
Tang CS, Sribudiani Y, Miao XP, de Vries AR, Burzynski G, et al. (2010) Fine mapping of the 9q31 Hirschsprung's disease locus. Hum Genet 127: 675-683.
-
(2010)
Hum Genet
, vol.127
, pp. 675-683
-
-
Tang, C.S.1
Sribudiani, Y.2
Miao, X.P.3
de Vries, A.R.4
Burzynski, G.5
-
36
-
-
77951719393
-
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing
-
Park H, Kim JI, Ju YS, Gokcumen O, Mills RE, et al. (2010) Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat Genet 42: 400-405.
-
(2010)
Nat Genet
, vol.42
, pp. 400-405
-
-
Park, H.1
Kim, J.I.2
Ju, Y.S.3
Gokcumen, O.4
Mills, R.E.5
-
37
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, et al. (2006) Global variation in copy number in the human genome. Nature 444: 444-454.
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
-
38
-
-
69749121852
-
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
-
Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, et al. (2009) High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 19: 1682-1690.
-
(2009)
Genome Res
, vol.19
, pp. 1682-1690
-
-
Shaikh, T.H.1
Gai, X.2
Perin, J.C.3
Glessner, J.T.4
Xie, H.5
-
39
-
-
78651338017
-
ENCODE whole-genome data in the UCSC genome browser (2011 update)
-
Raney BJ, Cline MS, Rosenbloom KR, Dreszer TR, Learned K, et al. (2011) ENCODE whole-genome data in the UCSC genome browser (2011 update). Nucleic Acids Res 39: D871-875.
-
(2011)
Nucleic Acids Res
, vol.39
-
-
Raney, B.J.1
Cline, M.S.2
Rosenbloom, K.R.3
Dreszer, T.R.4
Learned, K.5
-
40
-
-
44149127678
-
The role of NRG3 in mammary development
-
Howard BA, (2008) The role of NRG3 in mammary development. J Mammary Gland Biol Neoplasia 13: 195-203.
-
(2008)
J Mammary Gland Biol Neoplasia
, vol.13
, pp. 195-203
-
-
Howard, B.A.1
-
41
-
-
77951700086
-
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs
-
Conrad DF, Bird C, Blackburne B, Lindsay S, Mamanova L, et al. (2010) Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet 42: 385-391.
-
(2010)
Nat Genet
, vol.42
, pp. 385-391
-
-
Conrad, D.F.1
Bird, C.2
Blackburne, B.3
Lindsay, S.4
Mamanova, L.5
-
42
-
-
84856678164
-
Mutations in the NRG1 gene are associated with Hirschsprung disease
-
Tang CS, Ngan ES, Tang WK, So MT, Cheng G, et al. (2011) Mutations in the NRG1 gene are associated with Hirschsprung disease. Hum Genet.
-
(2011)
Hum Genet
-
-
Tang, C.S.1
Ngan, E.S.2
Tang, W.K.3
So, M.T.4
Cheng, G.5
-
43
-
-
34547792816
-
Interactions among genes in the ErbB-Neuregulin signalling network are associated with increased susceptibility to schizophrenia
-
Benzel I, Bansal A, Browning BL, Galwey NW, Maycox PR, et al. (2007) Interactions among genes in the ErbB-Neuregulin signalling network are associated with increased susceptibility to schizophrenia. Behav Brain Funct 3: 31.
-
(2007)
Behav Brain Funct
, vol.3
, pp. 31
-
-
Benzel, I.1
Bansal, A.2
Browning, B.L.3
Galwey, N.W.4
Maycox, P.R.5
-
44
-
-
58049209657
-
Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia
-
Chen PL, Avramopoulos D, Lasseter VK, McGrath JA, Fallin MD, et al. (2009) Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia. Am J Hum Genet 84: 21-34.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 21-34
-
-
Chen, P.L.1
Avramopoulos, D.2
Lasseter, V.K.3
McGrath, J.A.4
Fallin, M.D.5
-
45
-
-
0013375948
-
Neuregulin 1 and susceptibility to schizophrenia
-
Stefansson H, Sigurdsson E, Steinthorsdottir V, Bjornsdottir S, Sigmundsson T, et al. (2002) Neuregulin 1 and susceptibility to schizophrenia. Am J Hum Genet 71: 877-892.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 877-892
-
-
Stefansson, H.1
Sigurdsson, E.2
Steinthorsdottir, V.3
Bjornsdottir, S.4
Sigmundsson, T.5
-
46
-
-
33745712841
-
Association of the NRG1 gene and schizophrenia: a meta-analysis
-
Munafo MR, Thiselton DL, Clark TG, Flint J, (2006) Association of the NRG1 gene and schizophrenia: a meta-analysis. Mol Psychiatry 11: 539-546.
-
(2006)
Mol Psychiatry
, vol.11
, pp. 539-546
-
-
Munafo, M.R.1
Thiselton, D.L.2
Clark, T.G.3
Flint, J.4
-
47
-
-
33845268661
-
Further evidence for association between ErbB4 and schizophrenia and influence on cognitive intermediate phenotypes in healthy controls
-
Nicodemus KK, Luna A, Vakkalanka R, Goldberg T, Egan M, et al. (2006) Further evidence for association between ErbB4 and schizophrenia and influence on cognitive intermediate phenotypes in healthy controls. Mol Psychiatry 11: 1062-1065.
-
(2006)
Mol Psychiatry
, vol.11
, pp. 1062-1065
-
-
Nicodemus, K.K.1
Luna, A.2
Vakkalanka, R.3
Goldberg, T.4
Egan, M.5
-
48
-
-
33748742622
-
A novel missense mutation in the transmembrane domain of neuregulin 1 is associated with schizophrenia
-
Walss-Bass C, Liu W, Lew DF, Villegas R, Montero P, et al. (2006) A novel missense mutation in the transmembrane domain of neuregulin 1 is associated with schizophrenia. Biol Psychiatry 60: 548-553.
-
(2006)
Biol Psychiatry
, vol.60
, pp. 548-553
-
-
Walss-Bass, C.1
Liu, W.2
Lew, D.F.3
Villegas, R.4
Montero, P.5
-
49
-
-
77957260622
-
Common genetic variation in Neuregulin 3 (NRG3) influences risk for schizophrenia and impacts NRG3 expression in human brain
-
Kao WT, Wang Y, Kleinman JE, Lipska BK, Hyde TM, et al. (2010) Common genetic variation in Neuregulin 3 (NRG3) influences risk for schizophrenia and impacts NRG3 expression in human brain. Proc Natl Acad Sci U S A 107: 15619-15624.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 15619-15624
-
-
Kao, W.T.1
Wang, Y.2
Kleinman, J.E.3
Lipska, B.K.4
Hyde, T.M.5
-
50
-
-
79960839951
-
Neuregulin 3 (NRG3) as a susceptibility gene in a schizophrenia subtype with florid delusions and relatively spared cognition
-
Morar B, Dragovic M, Waters FA, Chandler D, Kalaydjieva L, et al. (2010) Neuregulin 3 (NRG3) as a susceptibility gene in a schizophrenia subtype with florid delusions and relatively spared cognition. Mol Psychiatry.
-
(2010)
Mol Psychiatry
-
-
Morar, B.1
Dragovic, M.2
Waters, F.A.3
Chandler, D.4
Kalaydjieva, L.5
-
51
-
-
33846589304
-
Disease-associated intronic variants in the ErbB4 gene are related to altered ErbB4 splice-variant expression in the brain in schizophrenia
-
Law AJ, Kleinman JE, Weinberger DR, Weickert CS, (2007) Disease-associated intronic variants in the ErbB4 gene are related to altered ErbB4 splice-variant expression in the brain in schizophrenia. Hum Mol Genet 16: 129-141.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 129-141
-
-
Law, A.J.1
Kleinman, J.E.2
Weinberger, D.R.3
Weickert, C.S.4
-
52
-
-
33646240854
-
Neuregulin 1 transcripts are differentially expressed in schizophrenia and regulated by 5′ SNPs associated with the disease
-
Law AJ, Lipska BK, Weickert CS, Hyde TM, Straub RE, et al. (2006) Neuregulin 1 transcripts are differentially expressed in schizophrenia and regulated by 5′ SNPs associated with the disease. Proc Natl Acad Sci U S A 103: 6747-6752.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 6747-6752
-
-
Law, A.J.1
Lipska, B.K.2
Weickert, C.S.3
Hyde, T.M.4
Straub, R.E.5
-
53
-
-
70349756961
-
Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans
-
Xu B, Woodroffe A, Rodriguez-Murillo L, Roos JL, van Rensburg EJ, et al. (2009) Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans. Proc Natl Acad Sci U S A 106: 16746-16751.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 16746-16751
-
-
Xu, B.1
Woodroffe, A.2
Rodriguez-Murillo, L.3
Roos, J.L.4
van Rensburg, E.J.5
-
54
-
-
42349088634
-
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
-
Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, et al. (2008) Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320: 539-543.
-
(2008)
Science
, vol.320
, pp. 539-543
-
-
Walsh, T.1
McClellan, J.M.2
McCarthy, S.E.3
Addington, A.M.4
Pierce, S.B.5
-
55
-
-
77649122250
-
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
-
Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, et al. (2010) A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 42: 203-209.
-
(2010)
Nat Genet
, vol.42
, pp. 203-209
-
-
Girirajan, S.1
Rosenfeld, J.A.2
Cooper, G.M.3
Antonacci, F.4
Siswara, P.5
-
56
-
-
78249259373
-
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder
-
Wang KS, Liu XF, Aragam N, (2010) A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. Schizophr Res 124: 192-199.
-
(2010)
Schizophr Res
, vol.124
, pp. 192-199
-
-
Wang, K.S.1
Liu, X.F.2
Aragam, N.3
-
57
-
-
38749140677
-
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
-
Alarcon M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, et al. (2008) Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 82: 150-159.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 150-159
-
-
Alarcon, M.1
Abrahams, B.S.2
Stone, J.L.3
Duvall, J.A.4
Perederiy, J.V.5
-
58
-
-
39449121016
-
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
-
Friedman JI, Vrijenhoek T, Markx S, Janssen IM, van der Vliet WA, et al. (2008) CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Mol Psychiatry 13: 261-266.
-
(2008)
Mol Psychiatry
, vol.13
, pp. 261-266
-
-
Friedman, J.I.1
Vrijenhoek, T.2
Markx, S.3
Janssen, I.M.4
van der Vliet, W.A.5
-
59
-
-
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, Orrico A, Ousager LB, 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
Orrico, A.4
Ousager, L.B.5
-
60
-
-
0027953279
-
The "institutional colon": a frequent colonic dysmotility in psychiatric and neurologic disease
-
Sonnenberg A, Tsou VT, Muller AD, (1994) The "institutional colon": a frequent colonic dysmotility in psychiatric and neurologic disease. Am J Gastroenterol 89: 62-66.
-
(1994)
Am J Gastroenterol
, vol.89
, pp. 62-66
-
-
Sonnenberg, A.1
Tsou, V.T.2
Muller, A.D.3
-
61
-
-
69349089221
-
Linear and non-linear measures indicate gastric dysmotility in patients suffering from acute schizophrenia
-
Peupelmann J, Quick C, Berger S, Hocke M, Tancer ME, et al. (2009) Linear and non-linear measures indicate gastric dysmotility in patients suffering from acute schizophrenia. Prog Neuropsychopharmacol Biol Psychiatry 33: 1236-1240.
-
(2009)
Prog Neuropsychopharmacol Biol Psychiatry
, vol.33
, pp. 1236-1240
-
-
Peupelmann, J.1
Quick, C.2
Berger, S.3
Hocke, M.4
Tancer, M.E.5
-
62
-
-
77953286155
-
Colonic transit time in mentally retarded persons
-
Vande Velde S, Van Biervliet S, Van Goethem G, De Looze D, Van Winckel M, (2010) Colonic transit time in mentally retarded persons. Int J Colorectal Dis 25: 867-871.
-
(2010)
Int J Colorectal Dis
, vol.25
, pp. 867-871
-
-
Vande Velde, S.1
van Biervliet, S.2
van Goethem, G.3
de Looze, D.4
van Winckel, M.5
-
63
-
-
48349105094
-
Impact of whole genome amplification on analysis of copy number variants
-
Pugh TJ, Delaney AD, Farnoud N, Flibotte S, Griffith M, et al. (2008) Impact of whole genome amplification on analysis of copy number variants. Nucleic Acids Res 36: e80.
-
(2008)
Nucleic Acids Res
, vol.36
-
-
Pugh, T.J.1
Delaney, A.D.2
Farnoud, N.3
Flibotte, S.4
Griffith, M.5
-
64
-
-
35948984173
-
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
-
Wang K, Li M, Hadley D, Liu R, Glessner J, et al. (2007) PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17: 1665-1674.
-
(2007)
Genome Res
, vol.17
, pp. 1665-1674
-
-
Wang, K.1
Li, M.2
Hadley, D.3
Liu, R.4
Glessner, J.5
-
65
-
-
52949085789
-
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
-
Korn JM, Kuruvilla FG, McCarroll SA, Wysoker A, Nemesh J, et al. (2008) Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet 40: 1253-1260.
-
(2008)
Nat Genet
, vol.40
, pp. 1253-1260
-
-
Korn, J.M.1
Kuruvilla, F.G.2
McCarroll, S.A.3
Wysoker, A.4
Nemesh, J.5
-
66
-
-
34548292504
-
PLINK: a tool set for whole-genome association and population-based linkage analyses
-
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.5
-
67
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, et al. (2010) Origins and functional impact of copy number variation in the human genome. Nature 464: 704-712.
-
(2010)
Nature
, vol.464
, pp. 704-712
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
-
68
-
-
62649155943
-
A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals
-
Browning BL, Browning SR, (2009) A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am J Hum Genet 84: 210-223.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 210-223
-
-
Browning, B.L.1
Browning, S.R.2
-
69
-
-
35348817330
-
Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering
-
Browning SR, Browning BL, (2007) Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am J Hum Genet 81: 1084-1097.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1084-1097
-
-
Browning, S.R.1
Browning, B.L.2
-
70
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
Durbin RM, Abecasis GR, Altshuler DL, Auton A, Brooks LD, et al. (2010) A map of human genome variation from population-scale sequencing. Nature 467: 1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Durbin, R.M.1
Abecasis, G.R.2
Altshuler, D.L.3
Auton, A.4
Brooks, L.D.5
|