-
1
-
-
0020696212
-
Chromosomal abnormality rates in aminiocentesis and in live-born infants
-
Hook EB, Cross PK, Schreinemachers DM. Chromosomal abnormality rates in aminiocentesis and in live-born infants. JAMA. 249:1983;2034-2038.
-
(1983)
JAMA
, vol.249
, pp. 2034-2038
-
-
Hook, E.B.1
Cross, P.K.2
Schreinemachers, D.M.3
-
2
-
-
0031137269
-
Simple minded mice from in vivo libraries
-
of special interest. A discussion of the methodology and power of the in vivo libraries technique, this review also gives a brief background to Down syndrome and the major research issues.
-
Kola I. Simple minded mice from in vivo libraries. of special interest Nat Genet. 16:1997;8-9 A discussion of the methodology and power of the in vivo libraries technique, this review also gives a brief background to Down syndrome and the major research issues.
-
(1997)
Nat Genet
, vol.16
, pp. 8-9
-
-
Kola, I.1
-
3
-
-
0030854138
-
Animal models in the study of the biological function of genes on human chromosome 21 and their role in the pathophysiology of Down syndrome
-
of outstanding interest. A complete review of genes on human chromosome 21, their biological function, and their putative roles in the pathophysiology of Down syndrome. Animal models are briefly discussed.
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Kola I, Hertzog PJ. Animal models in the study of the biological function of genes on human chromosome 21 and their role in the pathophysiology of Down syndrome. of outstanding interest Hum Mol Genet. 6:1997;1713-1727 A complete review of genes on human chromosome 21, their biological function, and their putative roles in the pathophysiology of Down syndrome. Animal models are briefly discussed.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1713-1727
-
-
Kola, I.1
Hertzog, P.J.2
-
5
-
-
0022271552
-
Mouse trisomy 16: An animal model of human trisomy 21 (Down syndrome)
-
Eptstein CJ, Cox DR, Epstein L. Mouse trisomy 16: an animal model of human trisomy 21 (Down syndrome). Ann NY Acad Sci. 450:1985;157-168.
-
(1985)
Ann NY Acad Sci
, vol.450
, pp. 157-168
-
-
Eptstein, C.J.1
Cox, D.R.2
Epstein, L.3
-
6
-
-
10544243361
-
Developmental abnormalities and age-related neurodegeneration in a mouse model of Down syndrome
-
Holtzman DM, Santucci D, Kilbridge J, Chua-Couzens J, Fontana DJ, Daniels SE, Johnson RM, Chen K, Sun Y, Carlson E, et al. Developmental abnormalities and age-related neurodegeneration in a mouse model of Down syndrome. Proc Natl Acad Sci USA. 93:1996;13333-13338.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 13333-13338
-
-
Holtzman, D.M.1
Santucci, D.2
Kilbridge, J.3
Chua-Couzens, J.4
Fontana, D.J.5
Daniels, S.E.6
Johnson, R.M.7
Chen, K.8
Sun, Y.9
Carlson, E.10
-
7
-
-
0027719985
-
Segmental trisomy as a model for Down Syndrome
-
Epstein C.J. New York: Wiley-Liss
-
Davisson MT, Schmidt C, Reeves RH, Irving NG, Akesson EC, Harris BS, Bronson RT. Segmental trisomy as a model for Down Syndrome. Epstein CJ. The Phenotypic Mapping of Down syndrome and Other Aneuploid Conditions. 384:1993;117-133 Wiley-Liss, New York.
-
(1993)
The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions
, vol.384
, pp. 117-133
-
-
Davisson, M.T.1
Schmidt, C.2
Reeves, R.H.3
Irving, N.G.4
Akesson, E.C.5
Harris, B.S.6
Bronson, R.T.7
-
8
-
-
13344276562
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Downs syndrome-like skeletal abnormalities in Ets2 transgenic mice
-
Sumarsono SH, Wilson TJ, Tymms MJ, Venter DJ, Corrick CM, Kola R, Lahoud MH, Papas TS, Seth A, Kola I. Downs syndrome-like skeletal abnormalities in Ets2 transgenic mice. Nature. 379:1996;534-537.
-
(1996)
Nature
, vol.379
, pp. 534-537
-
-
Sumarsono, S.H.1
Wilson, T.J.2
Tymms, M.J.3
Venter, D.J.4
Corrick, C.M.5
Kola, R.6
Lahoud, M.H.7
Papas, T.S.8
Seth, A.9
Kola, I.10
-
9
-
-
0028825042
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A behavioural assessment of Ts65Dn mice: A putative Down syndrome model
-
Escorihuela RM, Fernandez-Teruel A, Vallina IF, Baamonde L, Lumbreras MA, Dierssen M, Tobena A, Florez J. A behavioural assessment of Ts65Dn mice: a putative Down syndrome model. Neurosci Lett. 199:1995;143-146.
-
(1995)
Neurosci Lett
, vol.199
, pp. 143-146
-
-
Escorihuela, R.M.1
Fernandez-Teruel, A.2
Vallina, I.F.3
Baamonde, L.4
Lumbreras, M.A.5
Dierssen, M.6
Tobena, A.7
Florez, J.8
-
10
-
-
0029114706
-
A mouse model for Down syndrome exhibits learning and behaviour deficits
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Reeves RH, Irving NG, Moran TH, Wohn A, Kitt C, Sisodia SS, Schmidt C, Bronson RT, Davisson MT. A mouse model for Down syndrome exhibits learning and behaviour deficits. Nat Genet. 11:1995;177-184.
-
(1995)
Nat Genet
, vol.11
, pp. 177-184
-
-
Reeves, R.H.1
Irving, N.G.2
Moran, T.H.3
Wohn, A.4
Kitt, C.5
Sisodia, S.S.6
Schmidt, C.7
Bronson, R.T.8
Davisson, M.T.9
-
11
-
-
0032568615
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Ts 108 Cje, a new partial trisomy 16 mouse model for down syndrome, exhibits learning and behavioural abnormalities
-
Sago H, Carlson EJ, Smith DJ, Kilbridge J, Rubin EM, Mobley WC, Epstein CJ, Huang T-T. Ts 108 Cje, a new partial trisomy 16 mouse model for down syndrome, exhibits learning and behavioural abnormalities. Proc Natl Acad Sci USA. 95:1998.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
-
-
Sago, H.1
Carlson, E.J.2
Smith, D.J.3
Kilbridge, J.4
Rubin, E.M.5
Mobley, W.C.6
Epstein, C.J.7
Huang, T.-T.8
-
12
-
-
85030335178
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-
Abstract 47. September
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Long L, Richsmeier JT, Lubensky A, Yo M, Abrams M, Patwardhan A, Reiss A, Reeves RH. . Abstract 47 7th International Workshop on Human Chromosome 21. September 1997.
-
(1997)
7th International Workshop on Human Chromosome 21
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-
Long, L.1
Richsmeier, J.T.2
Lubensky, A.3
Yo, M.4
Abrams, M.5
Patwardhan, A.6
Reiss, A.7
Reeves, R.H.8
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13
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0028337533
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Astrocytosis and axonal proliferation in the hippocampus of S100β transgenic mice
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of outstanding interest
-
of outstanding interest Reeves RH, Yao J, Crowley MR, Buck S, Zhang X, Yarowsky P, Gearhart JD, Hilt DC. Astrocytosis and axonal proliferation in the hippocampus of S100β transgenic mice. Proc Natl Acad Sci USA. 91:1994;5359-5363.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 5359-5363
-
-
Reeves, R.H.1
Yao, J.2
Crowley, M.R.3
Buck, S.4
Zhang, X.5
Yarowsky, P.6
Gearhart, J.D.7
Hilt, D.C.8
-
14
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0030915187
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Functional screening of 2Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down syndrome
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of outstanding interest. A novel method (in vivo libraries) for sifting through a relatively large part of the human genome to study genotype/phenotype correlations is presented. Furthermore, transgenic mice over-expressing genes from a 180kb YAC from 21q22.2 that appears to only contain minibrain (the gene spans ≈100kb) develop learning defects.
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Smith DJ, Steven ME, Sudanagunta SB, Bronson RT, Makhinson M, Watabe AM, O'Dell TJ, Fung J, Weier HU, Cheng JF, Rubin EM. Functional screening of 2Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down syndrome. of outstanding interest Nat Genet. 16:1997;28-36 A novel method (in vivo libraries) for sifting through a relatively large part of the human genome to study genotype/phenotype correlations is presented. Furthermore, transgenic mice over-expressing genes from a 180kb YAC from 21q22.2 that appears to only contain minibrain (the gene spans ≈100kb) develop learning defects.
-
(1997)
Nat Genet
, vol.16
, pp. 28-36
-
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Smith, D.J.1
Steven, M.E.2
Sudanagunta, S.B.3
Bronson, R.T.4
Makhinson, M.5
Watabe, A.M.6
O'Dell, T.J.7
Fung, J.8
Weier, H.U.9
Cheng, J.F.10
Rubin, E.M.11
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15
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0031055509
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Alterations of central noradrenergic transmission in Ts65Dn mouse, a model for Down syndrome
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of special interest. Ts65Dn mice have been found to have reduced cAMP in specific parts of the brain (hippocampus and cerebellar cortex). These regions also show an impaired response to stimulation with isoprenaline and forskolin. These changes may be the basis (partially) of the altered behaviour of Ts65Dn mice.
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Dierssen M, Vallina IF, Baamonde C, Garcia-Calatayud S, Lumbreras MA, Florez J. Alterations of central noradrenergic transmission in Ts65Dn mouse, a model for Down syndrome. of special interest Brain Res. 749:1997;238-244 Ts65Dn mice have been found to have reduced cAMP in specific parts of the brain (hippocampus and cerebellar cortex). These regions also show an impaired response to stimulation with isoprenaline and forskolin. These changes may be the basis (partially) of the altered behaviour of Ts65Dn mice.
-
(1997)
Brain Res
, vol.749
, pp. 238-244
-
-
Dierssen, M.1
Vallina, I.F.2
Baamonde, C.3
Garcia-Calatayud, S.4
Lumbreras, M.A.5
Florez, J.6
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16
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0030709340
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Cholinergic, serotonergic and catecholaminergic neurons are not affected in Ts65Dn mice
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Megias M, Verduga R, Dierssen M, Florez J, Insausti R, Crespo D. Cholinergic, serotonergic and catecholaminergic neurons are not affected in Ts65Dn mice. Neuroreport. 8:1997;3475-3478.
-
(1997)
Neuroreport
, vol.8
, pp. 3475-3478
-
-
Megias, M.1
Verduga, R.2
Dierssen, M.3
Florez, J.4
Insausti, R.5
Crespo, D.6
-
17
-
-
85030336809
-
-
Abstract 42. Berlin, Germany
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Huang T-T, Sago H, Carlson EJ, Smith DJ, Kilbridge J, Brodsky G, Bleskan J, Chen XN, Patterson D, Korenberg JR, et al. Abstract 42 7th International Workshop on Human Chromosome 21. September 1997;. Berlin, Germany.
-
(1997)
7th International Workshop on Human Chromosome 21
-
-
Huang, T.-T.1
Sago, H.2
Carlson, E.J.3
Smith, D.J.4
Kilbridge, J.5
Brodsky, G.6
Bleskan, J.7
Chen, X.N.8
Patterson, D.9
Korenberg, J.R.10
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18
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0028365043
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Cell damage by excess CuZn SOD and Downs syndrome
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Groner Y, Elroy-Stein O, Avraham KB, Schickler M, Knobler H, Minc-Golomb D, Bar-Peled O, Yarom R, Rotschenker S. Cell damage by excess CuZn SOD and Downs syndrome. Biomed Pharmacother. 48:1994;231-240.
-
(1994)
Biomed Pharmacother
, vol.48
, pp. 231-240
-
-
Groner, Y.1
Elroy-Stein, O.2
Avraham, K.B.3
Schickler, M.4
Knobler, H.5
Minc-Golomb, D.6
Bar-Peled, O.7
Yarom, R.8
Rotschenker, S.9
-
19
-
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0029757963
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Constitutive overexpression of Cu/Zn superoxide dismutase exacerbates kainic acid-induced apoptosis of transgenic-Cu/Zn superoxide dismutase neurons
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Bar-Peled O, Korkotian E, Segal M, Groner Y. Constitutive overexpression of Cu/Zn superoxide dismutase exacerbates kainic acid-induced apoptosis of transgenic-Cu/Zn superoxide dismutase neurons. Proc Natl Acad Sci USA. 93:1996;8530-8535.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 8530-8535
-
-
Bar-Peled, O.1
Korkotian, E.2
Segal, M.3
Groner, Y.4
-
20
-
-
0028839912
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Thymic abnormalities and enhanced apoptosis of thymocytes and bone marrow cells in transgenic mice over expressing Cu/Zn-superoxide dismutatse implications for Down syndrome
-
Peled-Kamar M, Lotem J, Okon E, Sachs L, Groner Y. Thymic abnormalities and enhanced apoptosis of thymocytes and bone marrow cells in transgenic mice over expressing Cu/Zn-superoxide dismutatse implications for Down syndrome. EMBO J. 14:1995;4985-4993.
-
(1995)
EMBO J
, vol.14
, pp. 4985-4993
-
-
Peled-Kamar, M.1
Lotem, J.2
Okon, E.3
Sachs, L.4
Groner, Y.5
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21
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0028347355
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Overexpression of live-type phosphofructokinase (PFKL) in transgenic PFKL mice: Implication for gene dosage in trisomy 21
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Elson A, Levanon D, Weiss Y, Groner Y. Overexpression of live-type phosphofructokinase (PFKL) in transgenic PFKL mice: implication for gene dosage in trisomy 21. Biochem J. 299:1994;409-415.
-
(1994)
Biochem J
, vol.299
, pp. 409-415
-
-
Elson, A.1
Levanon, D.2
Weiss, Y.3
Groner, Y.4
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22
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0030970281
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Oxidative stress mediates impairment of muscle function in transgenic mice with elevated level of wild-type Cu/Zn superoxide dismutase
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of outstanding interest. A description of muscle abnormalities in transgenic mice over-expressing SOD1. These mice were previously shown to have tongue, thymus and neuromuscular junction defects (see [18,20]). This paper now describes amyotrophic lateral sclerosis (ALS)-like defects in SOD1 over-expressing mice. These abnormalities are exacerbated by exposure to oxidative stress, using stimuli such as paraquat.
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Peled-Kamar M, Lotem J, Wirguin I, Weiner L, Hermalin A, Groner Y. Oxidative stress mediates impairment of muscle function in transgenic mice with elevated level of wild-type Cu/Zn superoxide dismutase. of outstanding interest Proc Natl Acad Sci USA. 94:1997;3883-3887 A description of muscle abnormalities in transgenic mice over-expressing SOD1. These mice were previously shown to have tongue, thymus and neuromuscular junction defects (see [18,20]). This paper now describes amyotrophic lateral sclerosis (ALS)-like defects in SOD1 over-expressing mice. These abnormalities are exacerbated by exposure to oxidative stress, using stimuli such as paraquat.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 3883-3887
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-
Peled-Kamar, M.1
Lotem, J.2
Wirguin, I.3
Weiner, L.4
Hermalin, A.5
Groner, Y.6
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23
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0031865781
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Reversible impairment of long-term potentiation in transgenic Cu/Zn-SOD mice
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of outstanding interest. The authors of this paper find that mice over-expressing SOD1 display an impairment in spatial learning and document anomalies in long-term potential in the hippocampus. The role of SOD1 in cognitive defects had not previously been demonstrated.
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Gahtan E, Auerbach JM, Groner Y, Segal M. Reversible impairment of long-term potentiation in transgenic Cu/Zn-SOD mice. of outstanding interest Eur J Neurosci. 10:1998;538-544 The authors of this paper find that mice over-expressing SOD1 display an impairment in spatial learning and document anomalies in long-term potential in the hippocampus. The role of SOD1 in cognitive defects had not previously been demonstrated.
-
(1998)
Eur J Neurosci
, vol.10
, pp. 538-544
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Gahtan, E.1
Auerbach, J.M.2
Groner, Y.3
Segal, M.4
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24
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16944367194
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Positional cloning of the APECED gene
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of outstanding interest. This paper and the next [25] both report the cloning of the gene AIRE (autoimmune regulator) responsible for the pathogenesis of autoimmune polyglandular syndrome type 1 (APS1 or APECED) which is an autosomal-recessive disorder that maps to human chromosome 21q22.3.
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Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Kroha KJE, Laliofi MD, Mullis PE, Antonarakis SE, et al. Positional cloning of the APECED gene. of outstanding interest Nat Genet. 17:1997;393-397 This paper and the next [25] both report the cloning of the gene AIRE (autoimmune regulator) responsible for the pathogenesis of autoimmune polyglandular syndrome type 1 (APS1 or APECED) which is an autosomal-recessive disorder that maps to human chromosome 21q22.3.
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(1997)
Nat Genet
, vol.17
, pp. 393-397
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Nagamine, K.1
Peterson, P.2
Scott, H.S.3
Kudoh, J.4
Minoshima, S.5
Heino, M.6
Kroha, K.J.E.7
Laliofi, M.D.8
Mullis, P.E.9
Antonarakis, S.E.10
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25
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0346599403
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An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc finger domains
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of outstanding interest. This paper also reports the cloning of the gene AIRE [24] responsible for the pathogenesis of autoimmune polyglandular syndrome type 1 (APS1 or APECED) which is an autosomal-recessive disorder that maps to human chromosome 21q22.3.
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Aaltonen J, Bjorses P, Perheentupa J, Horelli-Kuitunen N, Palotie A, Peltonen L, Lee YS, Francis F, Henrig S, Thiel C, et al. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc finger domains. of outstanding interest Nat Genet. 17:1997;399-403 This paper also reports the cloning of the gene AIRE [24] responsible for the pathogenesis of autoimmune polyglandular syndrome type 1 (APS1 or APECED) which is an autosomal-recessive disorder that maps to human chromosome 21q22.3.
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(1997)
Nat Genet
, vol.17
, pp. 399-403
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Aaltonen, J.1
Bjorses, P.2
Perheentupa, J.3
Horelli-Kuitunen, N.4
Palotie, A.5
Peltonen, L.6
Lee, Y.S.7
Francis, F.8
Henrig, S.9
Thiel, C.10
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