-
1
-
-
0038419517
-
A population-based study of the 22q11.2 Deletion: Phenotype, incidence, and contribution to major birth defects in the population
-
DOI 10.1542/peds.112.1.101
-
Botto LD, May K, Fernhoff PM, Correa A, Coleman K, et al. (2003) A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112: 101-107. (Pubitemid 36792936)
-
(2003)
Pediatrics
, vol.112
, Issue.1 I
, pp. 101-107
-
-
Botto, L.D.1
May, K.2
Fernhoff, P.M.3
Correa, A.4
Coleman, K.5
Rasmussen, S.A.6
Merritt, R.K.7
O'Leary, L.A.8
Wong, L.-Y.9
Elixson, E.M.10
Mahle, W.T.11
Campbell, R.M.12
-
2
-
-
0031671548
-
A population study of chromosome 22q11 deletions in infancy
-
Goodship J, Cross I, LiLing J, Wren C (1998) A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 79: 348-351. (Pubitemid 28436089)
-
(1998)
Archives of Disease in Childhood
, vol.79
, Issue.4
, pp. 348-351
-
-
Goodship, J.1
Cross, I.2
Liling, J.3
Wren, C.4
-
3
-
-
0842327784
-
Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in Western Sweden
-
Oskarsdottir S (2004) Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Archives of Disease in Childhood 89: 148-151.
-
(2004)
Archives of Disease in Childhood
, vol.89
, pp. 148-151
-
-
Oskarsdottir, S.1
-
4
-
-
0029783493
-
Prevalence of 22q11 microdeletion
-
Tezenas Du Montcel S, Mendizabai H, Ayme S, Levy A, Philip N (1996) Prevalence of 22q11 microdeletion. J Med Genet 33: 719.
-
(1996)
J Med Genet
, vol.33
, pp. 719
-
-
Tezenas Du Montcel, S.1
Mendizabai, H.2
Ayme, S.3
Levy, A.4
Philip, N.5
-
5
-
-
0027432332
-
DiGeorge syndrome: Part of CATCH 22
-
Wilson DI, Burn J, Scambler P, Goodship J (1993) DiGeorge syndrome: part of CATCH 22. J Med Genet 30: 852-856. (Pubitemid 23299926)
-
(1993)
Journal of Medical Genetics
, vol.30
, Issue.10
, pp. 852-856
-
-
Wilson, D.I.1
Burn, J.2
Scambler, P.3
Goodship, J.4
-
6
-
-
16944364251
-
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients
-
Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, et al. (1997) Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet 61: 620-629. (Pubitemid 27418403)
-
(1997)
American Journal of Human Genetics
, vol.61
, Issue.3
, pp. 620-629
-
-
Carlson, C.1
Sirotkin, H.2
Pandita, R.3
Goldberg, R.4
McKie, J.5
Wadey, R.6
Patanjali, S.R.7
Weissman, S.M.8
Anyane-Yeboa, K.9
Warburton, D.10
Scambler, P.11
Shprintzen, R.12
Kucherlapati, R.13
Morrow, B.E.14
-
7
-
-
0035746665
-
Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review
-
Shaikh TH, Kurahashi H, Emanuel BS (2001) Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review. Genet Med 3: 6-13.
-
(2001)
Genet Med
, vol.3
, pp. 6-13
-
-
Shaikh, T.H.1
Kurahashi, H.2
Emanuel, B.S.3
-
8
-
-
78651245300
-
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
-
McDonald-McGinn DM, Sullivan KE (2011) Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore) 90: 1-18.
-
(2011)
Medicine (Baltimore)
, vol.90
, pp. 1-18
-
-
McDonald-McGinn, D.M.1
Sullivan, K.E.2
-
9
-
-
71149112408
-
Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome
-
Green T, Gothelf D, Glaser B, Debbane M, Frisch A, et al. (2009) Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. J Am Acad Child Adolesc Psychiatry 48: 1060-1068.
-
(2009)
J Am Acad Child Adolesc Psychiatry
, vol.48
, pp. 1060-1068
-
-
Green, T.1
Gothelf, D.2
Glaser, B.3
Debbane, M.4
Frisch, A.5
-
11
-
-
34748848009
-
Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion)
-
DOI 10.1007/s10803-006-0308-6
-
Antshel KM, Aneja A, Strunge L, Peebles J, Fremont WP, et al. (2007) Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion). J Autism Dev Disord 37: 1776-1786. (Pubitemid 47476599)
-
(2007)
Journal of Autism and Developmental Disorders
, vol.37
, Issue.9
, pp. 1776-1786
-
-
Antshel, K.M.1
Aneja, A.2
Strunge, L.3
Peebles, J.4
Fremont, W.P.5
Stallone, K.6
AbdulSabur, N.7
Higgins, A.M.8
Shprintzen, R.J.9
Kates, W.R.10
-
12
-
-
33748426974
-
The 22q11.2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms
-
DOI 10.1097/01.chi.0000228131.56956.c1, PII 0000458320060900000010
-
Vorstman JA, Morcus ME, Duijff SN, Klaassen PW, Heineman-de Boer JA, et al. (2006) The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms. J Am Acad Child Adolesc Psychiatry 45: 1104-1113. (Pubitemid 44343066)
-
(2006)
Journal of the American Academy of Child and Adolescent Psychiatry
, vol.45
, Issue.9
, pp. 1104-1113
-
-
Vorstman, J.A.S.1
Morcus, M.E.J.2
Duijff, S.N.3
Klaassen, P.W.J.4
Heineman-De, B.J.A.5
Beemer, F.A.6
Swaab, H.7
Kahn, R.S.8
Van Engeland, H.9
-
13
-
-
0032874085
-
22q11 deletion syndrome: A genetic subtype of schizophrenia
-
DOI 10.1016/S0006-3223(99)00114-6, PII S0006322399001146
-
Bassett AS, Chow EW (1999) 22q11 deletion syndrome: a genetic subtype of schizophrenia. Biol Psychiatry 46: 882-891. (Pubitemid 29452979)
-
(1999)
Biological Psychiatry
, vol.46
, Issue.7
, pp. 882-891
-
-
Bassett, A.S.1
Chow, E.W.C.2
-
14
-
-
77952738956
-
22q11.2 microdeletions: Linking DNA structural variation to brain dysfunction and schizophrenia
-
Karayiorgou M, Simon TJ, Gogos JA (2010) 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. Nat Rev Neurosci 11: 402-416.
-
(2010)
Nat Rev Neurosci
, vol.11
, pp. 402-416
-
-
Karayiorgou, M.1
Simon, T.J.2
Gogos, J.A.3
-
15
-
-
0037006412
-
Schizophrenia and velo-cardio-facial syndrome
-
Murphy KC (2002) Schizophrenia and velo-cardio-facial syndrome. Lancet 359: 426-430.
-
(2002)
Lancet
, vol.359
, pp. 426-430
-
-
Murphy, K.C.1
-
16
-
-
0035095617
-
Velocardiofacial syndrome: Are structural changes in the temporal and mesial temporal regions related to schizophrenia?
-
DOI 10.1176/appi.ajp.158.3.447
-
Eliez S, Blasey CM, Schmitt EJ, White CD, Hu D, et al. (2001) Velocardiofacial syndrome: are structural changes in the temporal and mesial temporal regions related to schizophrenia? Am J Psychiatry 158: 447-453. (Pubitemid 32205203)
-
(2001)
American Journal of Psychiatry
, vol.158
, Issue.3
, pp. 447-453
-
-
Eliez, S.1
Blasey, C.M.2
Schmitt, E.J.3
White, C.D.4
Hu, D.5
Reiss, A.L.6
-
17
-
-
0035010976
-
Structural brain abnormalities associated with deletion at chromosome 22q11: Quantitative neuroimaging study of adults with velo-cardio-facial syndrome
-
DOI 10.1192/bjp.178.5.412
-
van Amelsvoort T, Daly E, Robertson D, Suckling J, Ng V, et al. (2001) Structural brain abnormalities associated with deletion at chromosome 22q11: quantitative neuroimaging study of adults with velo-cardio-facial syndrome. Br J Psychiatry 178: 412-419. (Pubitemid 32436806)
-
(2001)
British Journal of Psychiatry
, vol.178
, Issue.MAY
, pp. 412-419
-
-
Van Amelsvoort, T.1
Daly, E.2
Robertson, D.3
Suckling, J.4
Ng, V.5
Critchley, H.6
Owen, M.J.7
Henry, J.8
Murphy, K.C.9
Murphy, D.G.M.10
-
18
-
-
33746123033
-
Hippocampal volume reduction in 22q11.2 deletion syndrome
-
DOI 10.1016/j.neuropsychologia.2006.05.006, PII S0028393206001849
-
Debbane M, Schaer M, Farhoumand R, Glaser B, Eliez S (2006) Hippocampal volume reduction in 22q11.2 deletion syndrome. Neuropsychologia 44: 2360-2365. (Pubitemid 44081931)
-
(2006)
Neuropsychologia
, vol.44
, Issue.12
, pp. 2360-2365
-
-
Debbane, M.1
Schaer, M.2
Farhoumand, R.3
Glaser, B.4
Eliez, S.5
-
19
-
-
37849038398
-
Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment
-
Deboer T, Wu Z, Lee A, Simon TJ (2007) Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment. Behav Brain Funct 3: 54.
-
(2007)
Behav Brain Funct
, vol.3
, pp. 54
-
-
Deboer, T.1
Wu, Z.2
Lee, A.3
Simon, T.J.4
-
20
-
-
33646776794
-
Temporal lobe anatomy and psychiatric symptoms in velocardiofacial syndrome (22q11.2 deletion syndrome)
-
Kates WR, Miller AM, Abdulsabur N, Antshel KM, Conchelos J, et al. (2006) Temporal lobe anatomy and psychiatric symptoms in velocardiofacial syndrome (22q11.2 deletion syndrome). J Am Acad Child Adolesc Psychiatry 45: 587-595.
-
(2006)
J Am Acad Child Adolesc Psychiatry
, vol.45
, pp. 587-595
-
-
Kates, W.R.1
Miller, A.M.2
Abdulsabur, N.3
Antshel, K.M.4
Conchelos, J.5
-
21
-
-
34547922747
-
Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: An update
-
DOI 10.1111/j.1365-2788.2007.00955.x
-
De Smedt B, Devriendt K, Fryns JP, Vogels A, Gewillig M, et al. (2007) Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update. J Intellect Disabil Res 51: 666-670. (Pubitemid 47249742)
-
(2007)
Journal of Intellectual Disability Research
, vol.51
, Issue.9
, pp. 666-670
-
-
De Smedt, B.1
Devriendt, K.2
Fryns, J.-P.3
Vogels, A.4
Gewillig, M.5
Swillen, A.6
-
22
-
-
84858729271
-
Cognitive development in children with 22q11.2 deletion syndrome
-
Duijff SN, Klaassen PW, de Veye HF, Beemer FA, Sinnema G, et al. (2012) Cognitive development in children with 22q11.2 deletion syndrome. Br J Psychiatry 200: 462-468.
-
(2012)
Br J Psychiatry
, vol.200
, pp. 462-468
-
-
Duijff, S.N.1
Klaassen, P.W.2
De Veye, H.F.3
Beemer, F.A.4
Sinnema, G.5
-
23
-
-
34247503348
-
Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome
-
DOI 10.1176/appi.ajp.164.4.663
-
Gothelf D, Feinstein C, Thompson T, Gu E, Penniman L, et al. (2007) Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. Am J Psychiatry 164: 663-669. (Pubitemid 46650199)
-
(2007)
American Journal of Psychiatry
, vol.164
, Issue.4
, pp. 663-669
-
-
Gothelf, D.1
Feinstein, C.2
Thompson, T.3
Gu, E.4
Penniman, L.5
Van Stone, E.6
Kwon, H.7
Eliez, S.8
Reiss, A.L.9
-
24
-
-
34250156293
-
Hippocampal size positively correlates with verbal IQ in male children
-
DOI 10.1002/hipo.20282
-
Schumann CM, Hamstra J, Goodlin-Jones BL, Kwon H, Reiss AL, et al. (2007): Hippocampal size positively correlates with verbal IQ in male children. Hippocampus 17: 486-493. (Pubitemid 46897981)
-
(2007)
Hippocampus
, vol.17
, Issue.6
, pp. 486-493
-
-
Schumann, C.M.1
Hamstra, J.2
Goodlin-Jones, B.L.3
Kwon, H.4
Reiss, A.L.5
Amaral, D.G.6
-
25
-
-
4344619866
-
Cognitive deficits associated with schizophrenia in velo-cardio-facial syndrome
-
DOI 10.1016/j.schres.2003.10.004, PII S0920996403003438
-
van Amelsvoort T, Henry J, Morris R, Owen M, Linszen D, et al. (2004) Cognitive deficits associated with schizophrenia in velo-cardio-facial syndrome. Schizophr Res 70: 223-232. (Pubitemid 39141101)
-
(2004)
Schizophrenia Research
, vol.70
, Issue.2-3
, pp. 223-232
-
-
Amelsvoort, T.V.1
Henry, J.2
Morris, R.3
Owen, M.4
Linszen, D.5
Murphy, K.6
Murphy, D.7
-
26
-
-
84870985438
-
Genotype-phenotype correlation in 22q11.2 deletion syndrome
-
Michaelovsky E, Frisch A, Carmel M, Patya M, Zarchi O, et al. (2012) Genotype-phenotype correlation in 22q11.2 deletion syndrome. BMC Med Genet 13: 122.
-
(2012)
BMC Med Genet
, vol.13
, pp. 122
-
-
Michaelovsky, E.1
Frisch, A.2
Carmel, M.3
Patya, M.4
Zarchi, O.5
-
27
-
-
33751400615
-
Gene dosage in the developing and adult brain in a mouse model of 22q11 deletion syndrome
-
DOI 10.1016/j.mcn.2006.09.001, PII S1044743106002041
-
Meechan DW, Maynard TM, Wu Y, Gopalakrishna D, Lieberman JA, et al. (2006) Gene dosage in the developing and adult brain in a mouse model of 22q11 deletion syndrome. Mol Cell Neurosci 33: 412-428. (Pubitemid 44820857)
-
(2006)
Molecular and Cellular Neuroscience
, vol.33
, Issue.4
, pp. 412-428
-
-
Meechan, D.W.1
Maynard, T.M.2
Wu, Y.3
Gopalakrishna, D.4
Lieberman, J.A.5
LaMantia, A.-S.6
-
28
-
-
33847283299
-
Differential gene expression in the hippocampus of the Df1/+ mice: A model for 22q11.2 deletion syndrome and schizophrenia
-
Sivagnanasundaram S, Fletcher D, Hubank M, Illingworth E, Skuse D, et al. (2007) Differential gene expression in the hippocampus of the Df1/+ mice: a model for 22q11.2 deletion syndrome and schizophrenia. Brain Res 1139: 48-59.
-
(2007)
Brain Res
, vol.1139
, pp. 48-59
-
-
Sivagnanasundaram, S.1
Fletcher, D.2
Hubank, M.3
Illingworth, E.4
Skuse, D.5
-
29
-
-
43949124669
-
Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model
-
DOI 10.1038/ng.138, PII NG138
-
Stark KL, Xu B, Bagchi A, Lai WS, Liu H, et al. (2008) Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model. Nat Genet 40: 751-760. (Pubitemid 351748862)
-
(2008)
Nature Genetics
, vol.40
, Issue.6
, pp. 751-760
-
-
Stark, K.L.1
Xu, B.2
Bagchi, A.3
Lai, W.-S.4
Liu, H.5
Hsu, R.6
Wan, X.7
Pavlidis, P.8
Mills, A.A.9
Karayiorgou, M.10
Gogos, J.A.11
-
30
-
-
0038364111
-
DiGeorge subtypes of nonsyndromic conotruncal defects: Evidence against a major role of TBX1 gene
-
DOI 10.1038/sj.ejhg.5200956
-
Conti E, Grifone N, Sarkozy A, Tandoi C, Marino B, et al. (2003) DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene. Eur J Hum Genet 11: 349-351. (Pubitemid 36553494)
-
(2003)
European Journal of Human Genetics
, vol.11
, Issue.4
, pp. 349-351
-
-
Conti, E.1
Grifone, N.2
Sarkozy, A.3
Tandoi, C.4
Marino, B.5
Digilio, M.C.6
Mingarelli, R.7
Pizzutti, A.8
Dallapiccola, B.9
-
31
-
-
0035653927
-
Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects
-
Gong W, Gottlieb S, Collins J, Blescia A, Dietz H, et al. (2001) Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J Med Genet 38: E45.
-
(2001)
J Med Genet
, vol.38
-
-
Gong, W.1
Gottlieb, S.2
Collins, J.3
Blescia, A.4
Dietz, H.5
-
32
-
-
80054695658
-
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velocardio-facial/DiGeorge/22q11.2 deletion syndrome patients
-
Guo T, McDonald-McGinn D, Blonska A, Shanske A, Bassett AS, et al (2011) Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velocardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat 32: 1278-1289.
-
(2011)
Hum Mutat
, vol.32
, pp. 1278-1289
-
-
Guo, T.1
McDonald-McGinn, D.2
Blonska, A.3
Shanske, A.4
Bassett, A.S.5
-
33
-
-
0030960331
-
Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region [5]
-
O'Donnell H, McKeown C, Gould C, Morrow B, Scambler P (1997) Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region. Am J Hum Genet 60: 1544-1548. (Pubitemid 27258090)
-
(1997)
American Journal of Human Genetics
, vol.60
, Issue.6
, pp. 1544-1548
-
-
O'Donnell, H.1
McKeown, C.2
Gould, C.3
Morrow, B.4
Scambler, P.5
-
34
-
-
0346094457
-
Prediction of Mammalian MicroRNA Targets
-
DOI 10.1016/S0092-8674(03)01018-3
-
Lewis BP, Shih IH, Jones-Rhoades MW, Bartel DP, Burge CB (2003) Prediction of mammalian microRNA targets. Cell 115: 787-798. (Pubitemid 38058492)
-
(2003)
Cell
, vol.115
, Issue.7
, pp. 787-798
-
-
Lewis, B.P.1
Shih, I.-H.2
Jones-Rhoades, M.W.3
Bartel, D.P.4
Burge, C.B.5
-
35
-
-
0347444723
-
MicroRNAs: Genomics, biogenesis, mechanism, and function
-
Bartel DP (2004) MicroRNAs: genomics, biogenesis, mechanism, and function. Cell 116: 281-297.
-
(2004)
Cell
, vol.116
, pp. 281-297
-
-
Bartel, D.P.1
-
36
-
-
79952733634
-
Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex
-
Fenelon K, Mukai J, Xu B, Hsu PK, Drew LJ, et al. (2011) Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex. Proc Natl Acad Sci U S A 108: 4447-4452.
-
(2011)
Proc Natl Acad Sci U S a
, vol.108
, pp. 4447-4452
-
-
Fenelon, K.1
Mukai, J.2
Xu, B.3
Hsu, P.K.4
Drew, L.J.5
-
37
-
-
70349254444
-
Loss of cardiac microRNA-mediated regulation leads to dilated cardiomyopathy and heart failure
-
Rao PK, Toyama Y, Chiang HR, Gupta S, Bauer M, et al. (2009) Loss of cardiac microRNA-mediated regulation leads to dilated cardiomyopathy and heart failure. Circ Res 105: 585-594.
-
(2009)
Circ Res
, vol.105
, pp. 585-594
-
-
Rao, P.K.1
Toyama, Y.2
Chiang, H.R.3
Gupta, S.4
Bauer, M.5
-
38
-
-
78650414944
-
Loss of microRNAs in neural crest leads to cardiovascular syndromes resembling human congenital heart defects
-
Huang ZP, Chen JF, Regan JN, Maguire CT, Tang RH, et al. (2010) Loss of microRNAs in neural crest leads to cardiovascular syndromes resembling human congenital heart defects. Arterioscler Thromb Vasc Biol 30: 2575-2586.
-
(2010)
Arterioscler Thromb Vasc Biol
, vol.30
, pp. 2575-2586
-
-
Huang, Z.P.1
Chen, J.F.2
Regan, J.N.3
Maguire, C.T.4
Tang, R.H.5
-
39
-
-
84874530655
-
Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome
-
de la Morena MT, Eitson JL, Dozmorov IM, Belkaya S, Hoover AR, et al. (2013) Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome. Clin Immunol 147: 11-22.
-
(2013)
Clin Immunol
, vol.147
, pp. 11-22
-
-
De La Morena, M.T.1
Eitson, J.L.2
Dozmorov, I.M.3
Belkaya, S.4
Hoover, A.R.5
-
40
-
-
0035810850
-
108/158 Met genotype on frontal lobe function and risk for schizophrenia
-
DOI 10.1073/pnas.111134598
-
Egan MF, Goldberg TE, Kolachana BS, Callicott JH, Mazzanti CM, et al. (2001) Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia. Proc Natl Acad Sci U S A 98: 6917-6922. (Pubitemid 32538317)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.12
, pp. 6917-6922
-
-
Egan, M.F.1
Goldberg, T.E.2
Kolachana, B.S.3
Callicott, J.H.4
Mazzanti, C.M.5
Straub, R.E.6
Goldman, D.7
Weinberger, D.R.8
-
41
-
-
0032921854
-
Methylation pharmacogenetics: Catechol O-methyltransferase, thiopurine methyltransferase, and histamine N-methyltransferase
-
DOI 10.1146/annurev.pharmtox.39.1.19
-
Weinshilboum RM, Otterness DM, Szumlanski CL (1999) Methylation pharmacogenetics: catechol O-methyltransferase, thiopurine methyltransferase, and histamine N-methyltransferase. Annu Rev Pharmacol Toxicol 39: 19-52. (Pubitemid 29222550)
-
(1999)
Annual Review of Pharmacology and Toxicology
, vol.39
, pp. 19-52
-
-
Weinshilboum, R.M.1
Otterness, D.M.2
Szumlanski, C.L.3
-
42
-
-
0029990051
-
Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes
-
DOI 10.1093/hmg/5.5.633
-
Demczuk S, Thomas G, Aurias A (1996) Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes. Hum Mol Genet 5: 633-638. (Pubitemid 26141277)
-
(1996)
Human Molecular Genetics
, vol.5
, Issue.5
, pp. 633-638
-
-
Demczuk, S.1
Thomas, G.2
Aurias, A.3
-
43
-
-
0031430058
-
A mouse gene (Dgcr6) related to the Drosophila gonadal gene is expressed in early embryogenesis and is the homolog of a human gene deleted in DiGeorge syndrome
-
Lindsay EA, Baldini A (1997) A mouse gene (Dgcr6) related to the Drosophila gonadal gene is expressed in early embryogenesis and is the homolog of a human gene deleted in DiGeorge syndrome. Cytogenet Cell Genet 79: 243-247. (Pubitemid 28211735)
-
(1997)
Cytogenetics and Cell Genetics
, vol.79
, Issue.3-4
, pp. 243-247
-
-
Lindsay, E.A.1
Baldini, A.2
-
44
-
-
0033615363
-
Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro
-
Nagase T, Ishikawa K, Kikuno R, Hirosawa M, Nomura N, et al. (1999) Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res 6: 337-345. (Pubitemid 129705064)
-
(1999)
DNA Research
, vol.6
, Issue.5
, pp. 337-345
-
-
Nagase, T.1
Ishikawa, K.-I.2
Kikuno, R.3
Hirosawa, M.4
Nomura, N.5
Ohara, O.6
-
45
-
-
54949150182
-
Palmitoylation-dependent neurodevelopmental deficits in a mouse model of 22q11 microdeletion
-
Mukai J, Dhilla A, Drew LJ, Stark KL, Cao L, et al. (2008) Palmitoylation-dependent neurodevelopmental deficits in a mouse model of 22q11 microdeletion. Nat Neurosci 11: 1302-1310.
-
(2008)
Nat Neurosci
, vol.11
, pp. 1302-1310
-
-
Mukai, J.1
Dhilla, A.2
Drew, L.J.3
Stark, K.L.4
Cao, L.5
-
46
-
-
0029150085
-
Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region
-
Heisterkamp N, Mulder MP, Langeveld A, ten Hoeve J, Wang Z, et al. (1995) Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region. Genomics 29: 451-456.
-
(1995)
Genomics
, vol.29
, pp. 451-456
-
-
Heisterkamp, N.1
Mulder, M.P.2
Langeveld, A.3
Ten Hoeve, J.4
Wang, Z.5
-
47
-
-
0034652113
-
Thioredoxin reductase
-
DOI 10.1042/0264-6021:3460001
-
Mustacich D, Powis G (2000) Thioredoxin reductase. Biochem J 346 Pt 1: 1-8. (Pubitemid 30113812)
-
(2000)
Biochemical Journal
, vol.346
, Issue.1
, pp. 1-8
-
-
Mustacich, D.1
Powis, G.2
-
48
-
-
34447107760
-
The Mirtron Pathway Generates microRNA-Class Regulatory RNAs in Drosophila
-
DOI 10.1016/j.cell.2007.06.028, PII S0092867407007957
-
Okamura K, Hagen JW, Duan H, Tyler DM, Lai EC (2007) The mirtron pathway generates microRNA-class regulatory RNAs in Drosophila. Cell 130: 89-100. (Pubitemid 47031325)
-
(2007)
Cell
, vol.130
, Issue.1
, pp. 89-100
-
-
Okamura, K.1
Hagen, J.W.2
Duan, H.3
Tyler, D.M.4
Lai, E.C.5
-
49
-
-
4344576717
-
Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion
-
DOI 10.1016/j.anngen.2004.04.002, PII S0003399504000413
-
Voelckel MA, Girardot L, Giusiano B, Levy N, Philip N (2004) Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion. Ann Genet 47: 235-240. (Pubitemid 39158833)
-
(2004)
Annales de Genetique
, vol.47
, Issue.3
, pp. 235-240
-
-
Voelckel, M.-A.1
Girardot, L.2
Giusiano, B.3
Levy, N.4
Philip, N.5
-
50
-
-
0030041944
-
Monozygotic twins with 22q11 deletion and discordant phenotypes
-
Fryer A (1996) Monozygotic twins with 22q11 deletion and discordant phenotypes. J Med Genet 33: 173.
-
(1996)
J Med Genet
, vol.33
, pp. 173
-
-
Fryer, A.1
-
51
-
-
0029033305
-
Monozygotic twins with chromosome 22q11 deletion and discordant phenotype
-
Goodship J, Cross I, Scambler P, Burn J (1995) Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J Med Genet 32: 746-748.
-
(1995)
J Med Genet
, vol.32
, pp. 746-748
-
-
Goodship, J.1
Cross, I.2
Scambler, P.3
Burn, J.4
-
52
-
-
0030067659
-
Monozygotic twins with chromosome 22q11 deletion and discordant phenotype
-
Hatchwell E (1996) Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J Med Genet 33: 261.
-
(1996)
J Med Genet
, vol.33
, pp. 261
-
-
Hatchwell, E.1
-
53
-
-
0031904734
-
Phenotypic discordance in monozygotic twins with 22q11.2 Deletion
-
DOI 10.1002/(SICI)1096-8628(19980724)78:4<319::AID
-
Yamagishi H, Ishii C, Maeda J, Kojima Y, Matsuoka R, et al. (1998) Phenotypic discordance in monozygotic twins with 22q11.2 deletion. Am J Med Genet 78: 319-321. (Pubitemid 28364399)
-
(1998)
American Journal of Medical Genetics
, vol.78
, Issue.4
, pp. 319-321
-
-
Yamagishi, H.1
Ishii, C.2
Maeda, J.3
Kojima, Y.4
Matsuoka, R.5
Kimura, M.6
Takao, A.7
Momma, K.8
Matsuo, N.9
-
54
-
-
0032769144
-
Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR)
-
DOI 10.1002/(SICI)1096-8628(19990903)86:1<27::AID
-
McQuade L, Christodoulou J, Budarf M, Sachdev R, Wilson M, et al. (1999) Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). Am J Med Genet 86: 27-33. (Pubitemid 29387712)
-
(1999)
American Journal of Medical Genetics
, vol.86
, Issue.1
, pp. 27-33
-
-
McQuade, L.1
Christodoulou, J.2
Budarf, M.3
Sachdev, R.4
Wilson, M.5
Emanuel, B.6
Colley, A.7
-
55
-
-
84859487640
-
MicroRNA dysregulation in neuropsychiatric disorders and cognitive dysfunction
-
Xu B, Hsu PK, Karayiorgou M, Gogos JA (2012) MicroRNA dysregulation in neuropsychiatric disorders and cognitive dysfunction. Neurobiol Dis 46: 291-301.
-
(2012)
Neurobiol Dis
, vol.46
, pp. 291-301
-
-
Xu, B.1
Hsu, P.K.2
Karayiorgou, M.3
Gogos, J.A.4
-
56
-
-
80053574171
-
Mirtrons: MicroRNA biogenesis via splicing
-
Westholm JO, Lai EC (2011) Mirtrons: microRNA biogenesis via splicing. Biochimie 93: 1897-1904.
-
(2011)
Biochimie
, vol.93
, pp. 1897-1904
-
-
Westholm, J.O.1
Lai, E.C.2
-
57
-
-
84878294538
-
Reduced adult hippocampal neurogenesis and working memory deficits in the Dgcr8-deficient mouse model of 22q11.2 deletion-associated schizophrenia can be rescued by IGF2
-
Ouchi Y, Banno Y, Shimizu Y, Ando S, Hasegawa H, et al. (2013) Reduced adult hippocampal neurogenesis and working memory deficits in the Dgcr8-deficient mouse model of 22q11.2 deletion-associated schizophrenia can be rescued by IGF2. J Neurosci 33: 9408-9419.
-
(2013)
J Neurosci
, vol.33
, pp. 9408-9419
-
-
Ouchi, Y.1
Banno, Y.2
Shimizu, Y.3
Ando, S.4
Hasegawa, H.5
-
59
-
-
84883651195
-
miR-192, miR-194 and miR-215: A convergent microRNA network suppressing tumor progression in renal cell carcinoma
-
Khella HW, Bakhet M, Allo G, Jewett MA, Girgis AH, et al. (2013) miR-192, miR-194 and miR-215: a convergent microRNA network suppressing tumor progression in renal cell carcinoma. Carcinogenesis 34: 2231-2239.
-
(2013)
Carcinogenesis
, vol.34
, pp. 2231-2239
-
-
Khella, H.W.1
Bakhet, M.2
Allo, G.3
Jewett, M.A.4
Girgis, A.H.5
-
60
-
-
84880770209
-
Circulating p53-responsive microRNAs are predictive indicators of heart failure after acute myocardial infarction
-
Matsumoto S, Sakata Y, Suna S, Nakatani D, Usami M, et al. (2013) Circulating p53-responsive microRNAs are predictive indicators of heart failure after acute myocardial infarction. Circ Res 113: 322-326.
-
(2013)
Circ Res
, vol.113
, pp. 322-326
-
-
Matsumoto, S.1
Sakata, Y.2
Suna, S.3
Nakatani, D.4
Usami, M.5
-
61
-
-
84867272432
-
Age-dependent microRNA control of synaptic plasticity in 22q11 deletion syndrome and schizophrenia
-
Earls LR, Fricke RG, Yu J, Berry RB, Baldwin LT, et al. (2012) Age-dependent microRNA control of synaptic plasticity in 22q11 deletion syndrome and schizophrenia. J Neurosci 32: 14132-14144.
-
(2012)
J Neurosci
, vol.32
, pp. 14132-14144
-
-
Earls, L.R.1
Fricke, R.G.2
Yu, J.3
Berry, R.B.4
Baldwin, L.T.5
-
62
-
-
51649130773
-
Expression of microRNAs and their precursors in synaptic fractions of adult mouse forebrain
-
Lugli G, Torvik VI, Larson J, Smalheiser NR (2008) Expression of microRNAs and their precursors in synaptic fractions of adult mouse forebrain. J Neurochem 106: 650-661.
-
(2008)
J Neurochem
, vol.106
, pp. 650-661
-
-
Lugli, G.1
Torvik, V.I.2
Larson, J.3
Smalheiser, N.R.4
-
63
-
-
53549129980
-
Concerted microRNA control of Hedgehog signalling in cerebellar neuronal progenitor and tumour cells
-
Ferretti E, De Smaele E, Miele E, Laneve P, Po A, et al. (2008) Concerted microRNA control of Hedgehog signalling in cerebellar neuronal progenitor and tumour cells. EMBO J 27: 2616-2627.
-
(2008)
EMBO J
, vol.27
, pp. 2616-2627
-
-
Ferretti, E.1
De Smaele, E.2
Miele, E.3
Laneve, P.4
Po, A.5
-
64
-
-
84875063798
-
MicroRNA-based promotion of human neuronal differentiation and subtype specification
-
Stappert L, Borghese L, Roese-Koerner B, Weinhold S, Koch P (2013) MicroRNA-based promotion of human neuronal differentiation and subtype specification. PLoS One 8: e59011.
-
(2013)
PLoS One
, vol.8
-
-
Stappert, L.1
Borghese, L.2
Roese-Koerner, B.3
Weinhold, S.4
Koch, P.5
-
65
-
-
84860388339
-
MicroRNAs in neuronal function and dysfunction
-
2012
-
Im HI, Kenny PJ (2012) MicroRNAs in neuronal function and dysfunction. Trends Neurosci 2012, 35: 325-334.
-
(2012)
Trends Neurosci
, vol.35
, pp. 325-334
-
-
Im, H.I.1
Kenny, P.J.2
-
66
-
-
41249102422
-
MicroRNA expression in the blood and brain of rats subjected to transient focal ischemia by middle cerebral artery occlusion
-
DOI 10.1161/STROKEAHA.107.500736
-
Jeyaseelan K, Lim KY, Armugam A (2008) MicroRNA expression in the blood and brain of rats subjected to transient focal ischemia by middle cerebral artery occlusion. Stroke 39: 959-966. (Pubitemid 351619577)
-
(2008)
Stroke
, vol.39
, Issue.3
, pp. 959-966
-
-
Jeyaseelan, K.1
Lim, K.Y.2
Armugam, A.3
-
67
-
-
77954067476
-
Comprehensive survey of human brain microRNA by deep sequencing
-
Shao NY, Hu HY, Yan Z, Xu Y, Hu H, et al. (2010) Comprehensive survey of human brain microRNA by deep sequencing. BMC Genomics 11: 409.
-
(2010)
BMC Genomics
, vol.11
, pp. 409
-
-
Shao, N.Y.1
Hu, H.Y.2
Yan, Z.3
Xu, Y.4
Hu, H.5
-
68
-
-
80053355727
-
MiR-185 targets the DNA methyltransferases 1 and regulates global DNA methylation in human glioma
-
Zhang Z, Tang H, Wang Z, Zhang B, Liu W, et al. (2011) MiR-185 targets the DNA methyltransferases 1 and regulates global DNA methylation in human glioma. Mol Cancer 10: 124.
-
(2011)
Mol Cancer
, vol.10
, pp. 124
-
-
Zhang, Z.1
Tang, H.2
Wang, Z.3
Zhang, B.4
Liu, W.5
-
69
-
-
72149133679
-
MicroRNAs miR-1, miR-133a, miR-133b and miR-208 are dysregulated in human myocardial infarction
-
Bostjancic E, Zidar N, Stajer D, Glavac D (2010) MicroRNAs miR-1, miR-133a, miR-133b and miR-208 are dysregulated in human myocardial infarction. Cardiology 115: 163-169.
-
(2010)
Cardiology
, vol.115
, pp. 163-169
-
-
Bostjancic, E.1
Zidar, N.2
Stajer, D.3
Glavac, D.4
-
70
-
-
31744432337
-
The role of microRNA-1 and microRNA-133 in skeletal muscle proliferation and differentiation
-
DOI 10.1038/ng1725, PII NG1725
-
Chen JF, Mandel EM, Thomson JM, Wu Q, Callis TE, et al. (2006) The role of microRNA-1 and microRNA-133 in skeletal muscle proliferation and differentiation. Nat Genet 38: 228-233. (Pubitemid 43177239)
-
(2006)
Nature Genetics
, vol.38
, Issue.2
, pp. 228-233
-
-
Chen, J.-F.1
Mandel, E.M.2
Thomson, J.M.3
Wu, Q.4
Callis, T.E.5
Hammond, S.M.6
Conlon, F.L.7
Wang, D.-Z.8
-
71
-
-
52449116560
-
MicroRNAs: Novel regulators in cardiac development and disease
-
Thum T, Catalucci D, Bauersachs J (2008) MicroRNAs: novel regulators in cardiac development and disease. Cardiovasc Res 79: 562-570.
-
(2008)
Cardiovasc Res
, vol.79
, pp. 562-570
-
-
Thum, T.1
Catalucci, D.2
Bauersachs, J.3
-
72
-
-
84864352823
-
Imprinted DLK1-DIO3 region of 14q32 defines a schizophrenia-associated miRNA signature in peripheral blood mononuclear cells
-
Gardiner E, Beveridge NJ, Wu JQ, Carr V, Scott RJ, et al. (2012) Imprinted DLK1-DIO3 region of 14q32 defines a schizophrenia-associated miRNA signature in peripheral blood mononuclear cells. Mol Psychiatry 17: 827-840.
-
(2012)
Mol Psychiatry
, vol.17
, pp. 827-840
-
-
Gardiner, E.1
Beveridge, N.J.2
Wu, J.Q.3
Carr, V.4
Scott, R.J.5
-
73
-
-
79959663462
-
MicroRNA expression aberration as potential peripheral blood biomarkers for schizophrenia
-
Lai CY, Yu SL, Hsieh MH, Chen CH, Chen HY, et al. (2011) MicroRNA expression aberration as potential peripheral blood biomarkers for schizophrenia. PLoS One 6: e21635.
-
(2011)
PLoS One
, vol.6
-
-
Lai, C.Y.1
Yu, S.L.2
Hsieh, M.H.3
Chen, C.H.4
Chen, H.Y.5
-
74
-
-
84866866864
-
The Emerging Role of microRNAs in Schizophrenia and Autism Spectrum Disorders
-
Mellios N, Sur M (2012) The Emerging Role of microRNAs in Schizophrenia and Autism Spectrum Disorders. Front Psychiatry 3: 39.
-
(2012)
Front Psychiatry
, vol.3
, pp. 39
-
-
Mellios, N.1
Sur, M.2
-
75
-
-
80055089607
-
The utility of gene expression in blood cells for diagnosing neuropsychiatric disorders
-
Woelk CH, Singhania A, Perez-Santiago J, Glatt SJ, Tsuang MT (2011) The utility of gene expression in blood cells for diagnosing neuropsychiatric disorders. Int Rev Neurobiol 101: 41-63.
-
(2011)
Int Rev Neurobiol
, vol.101
, pp. 41-63
-
-
Woelk, C.H.1
Singhania, A.2
Perez-Santiago, J.3
Glatt, S.J.4
Tsuang, M.T.5
-
76
-
-
84856695673
-
Circulating microRNAs: Novel biomarkers and extracellular communicators in cardiovascular disease?
-
Creemers EE, Tijsen AJ, Pinto YM (2012) Circulating microRNAs: novel biomarkers and extracellular communicators in cardiovascular disease? Circ Res 110: 483-495.
-
(2012)
Circ Res
, vol.110
, pp. 483-495
-
-
Creemers, E.E.1
Tijsen, A.J.2
Pinto, Y.M.3
-
77
-
-
0004064088
-
-
Irvine, CA: University of California Child Development Center
-
Swanson J (1995) SNAP-IV Scale. Irvine, CA: University of California Child Development Center.
-
(1995)
SNAP-IV Scale
-
-
Swanson, J.1
-
79
-
-
29244433760
-
A method for accurate detection of genomic microdeletions using real-time quantitative PCR
-
Weksberg R, Hughes S, Moldovan L, Bassett AS, Chow EW, et al. (2005) A method for accurate detection of genomic microdeletions using real-time quantitative PCR. BMC Genomics 6: 180.
-
(2005)
BMC Genomics
, vol.6
, pp. 180
-
-
Weksberg, R.1
Hughes, S.2
Moldovan, L.3
Bassett, A.S.4
Chow, E.W.5
-
80
-
-
0033940157
-
Elevated levels of FMR1 mRNA carrier males: A new mechanism of involvement in the fragile-X syndrome
-
DOI 10.1086/302720
-
Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, et al. (2000) Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet. 66(1): 6-15. (Pubitemid 30481464)
-
(2000)
American Journal of Human Genetics
, vol.66
, Issue.1
, pp. 6-15
-
-
Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
Gane, L.W.4
Godfrey, T.E.5
Hagerman, P.J.6
|