-
1
-
-
0025656524
-
Epidemiology of Down syndrome in 118,265 consecutive births
-
Stoll C., Alembik Y., Dott B., and Roth M.P. Epidemiology of Down syndrome in 118,265 consecutive births. Am. J. Med. Genet. 7 Suppl. (1990) 79-83
-
(1990)
Am. J. Med. Genet.
, vol.7
, Issue.SUPPL
, pp. 79-83
-
-
Stoll, C.1
Alembik, Y.2
Dott, B.3
Roth, M.P.4
-
2
-
-
0030089789
-
The neuropsychology of mental retardation
-
Pulsifer M.B. The neuropsychology of mental retardation. J. Int. Neuropsychol. Soc. 2 (1996) 159-176
-
(1996)
J. Int. Neuropsychol. Soc.
, vol.2
, pp. 159-176
-
-
Pulsifer, M.B.1
-
3
-
-
35548991458
-
Mental retardation in Down syndrome: from gene dosage imbalance to molecular and cellular mechanisms
-
10.1016/j.neures.2007.08.007
-
Rachidi M., and Lopes C. Mental retardation in Down syndrome: from gene dosage imbalance to molecular and cellular mechanisms. Neurosci. Res. (2007) 10.1016/j.neures.2007.08.007
-
(2007)
Neurosci. Res.
-
-
Rachidi, M.1
Lopes, C.2
-
4
-
-
0032127166
-
10 years of Genomics, chromosome 21, and Down syndrome
-
Antonarakis S.E. 10 years of Genomics, chromosome 21, and Down syndrome. Genomics 51 (1998) 1-16
-
(1998)
Genomics
, vol.51
, pp. 1-16
-
-
Antonarakis, S.E.1
-
5
-
-
0027874350
-
Molecular mapping of twenty-four features of Down syndrome on chromosome 21
-
Delabar J.M., Theophile D., Rahmani Z., Chettouh Z., Blouin J.L., Prieur M., Noel B., and Sinet P.M. Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur. J. Hum. Genet. 1 (1993) 114-124
-
(1993)
Eur. J. Hum. Genet.
, vol.1
, pp. 114-124
-
-
Delabar, J.M.1
Theophile, D.2
Rahmani, Z.3
Chettouh, Z.4
Blouin, J.L.5
Prieur, M.6
Noel, B.7
Sinet, P.M.8
-
6
-
-
0029075809
-
Construction of a panel of transgenic mice containing a contiguous 2-Mb set of YAC/P1 clones from human chromosome 21q22.2
-
Smith D.J., Zhu Y., Zhang J., Cheng J.F., and Rubin E.M. Construction of a panel of transgenic mice containing a contiguous 2-Mb set of YAC/P1 clones from human chromosome 21q22.2. Genomics 27 (1995) 425-434
-
(1995)
Genomics
, vol.27
, pp. 425-434
-
-
Smith, D.J.1
Zhu, Y.2
Zhang, J.3
Cheng, J.F.4
Rubin, E.M.5
-
7
-
-
0030915187
-
Functional screening of 2 Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down syndrome
-
Smith D.J., Stevens M.E., Sudanagunta S.P., Bronson R.T., Makhinson M., Watabe A.M., O'Dell T.J., Fung J., Weier H.U., Cheng J.F., and Rubin E.M. Functional screening of 2 Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down syndrome. Nat. Genet. 16 (1997) 28-36
-
(1997)
Nat. Genet.
, vol.16
, pp. 28-36
-
-
Smith, D.J.1
Stevens, M.E.2
Sudanagunta, S.P.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
-
8
-
-
2442641521
-
Transgenic mouse in vivo library of human Down syndrome Critical Region 1: association between DYRK1A overexpression, brain development abnormalities, and cell cycle protein alteration
-
Branchi I., Bichler Z., Minghetti L., Delabar J.M., Malchiodi-Albedi F., Gonzalez M.C., Chettouh Z., Nicolini A., Chabert C., Smith D.J., Rubin E.M., Migliore-Samour D., and Alleva E. Transgenic mouse in vivo library of human Down syndrome Critical Region 1: association between DYRK1A overexpression, brain development abnormalities, and cell cycle protein alteration. J. Neuropathol. Exp. Neurol. 63 (2004) 429-440
-
(2004)
J. Neuropathol. Exp. Neurol.
, vol.63
, pp. 429-440
-
-
Branchi, I.1
Bichler, Z.2
Minghetti, L.3
Delabar, J.M.4
Malchiodi-Albedi, F.5
Gonzalez, M.C.6
Chettouh, Z.7
Nicolini, A.8
Chabert, C.9
Smith, D.J.10
Rubin, E.M.11
Migliore-Samour, D.12
Alleva, E.13
-
9
-
-
0029585838
-
A role for En-2 and other murine homologues of Drosophila segment polarity genes in regulating positional information in the developing cerebellum
-
Millen K.J., Hui C.C., and Joyner A.L. A role for En-2 and other murine homologues of Drosophila segment polarity genes in regulating positional information in the developing cerebellum. Development 121 (1995) 3935-3945
-
(1995)
Development
, vol.121
, pp. 3935-3945
-
-
Millen, K.J.1
Hui, C.C.2
Joyner, A.L.3
-
10
-
-
0028325992
-
Abnormal embryonic cerebellar development and patterning of postnatal foliation in two mouse Engrailed-2 mutants
-
Millen K.J., Wurst W., Herrup K., and Joyner A.L. Abnormal embryonic cerebellar development and patterning of postnatal foliation in two mouse Engrailed-2 mutants. Development 120 (1994) 695-706
-
(1994)
Development
, vol.120
, pp. 695-706
-
-
Millen, K.J.1
Wurst, W.2
Herrup, K.3
Joyner, A.L.4
-
11
-
-
0028878675
-
Selective neuroanatomic abnormalities in Down's syndrome and their cognitive correlates: evidence from MRI morphometry
-
Raz N., Torres I.J., Briggs S.D., Spencer W.D., Thornton A.E., Loken W.J., Gunning F.M., McQuain J.D., Driesen N.R., and Acker J.D. Selective neuroanatomic abnormalities in Down's syndrome and their cognitive correlates: evidence from MRI morphometry. Neurology 45 (1995) 356-366
-
(1995)
Neurology
, vol.45
, pp. 356-366
-
-
Raz, N.1
Torres, I.J.2
Briggs, S.D.3
Spencer, W.D.4
Thornton, A.E.5
Loken, W.J.6
Gunning, F.M.7
McQuain, J.D.8
Driesen, N.R.9
Acker, J.D.10
-
12
-
-
0031041335
-
Cerebellar volume in adults with Down syndrome
-
Aylward E.H., Habbak R., Warren A.C., Pulsifer M.B., Barta P.E., Jerram M., and Pearlson G.D. Cerebellar volume in adults with Down syndrome. Arch. Neurol. 54 (1997) 209-212
-
(1997)
Arch. Neurol.
, vol.54
, pp. 209-212
-
-
Aylward, E.H.1
Habbak, R.2
Warren, A.C.3
Pulsifer, M.B.4
Barta, P.E.5
Jerram, M.6
Pearlson, G.D.7
-
13
-
-
0033978891
-
Discovery and genetic localization of Down syndrome cerebellar phenotypes using the Ts65Dn mouse
-
Baxter L.L., Moran T.H., Richtsmeier J.T., Troncoso J., and Reeves R.H. Discovery and genetic localization of Down syndrome cerebellar phenotypes using the Ts65Dn mouse. Hum. Mol. Genet. 9 2 (2000) 195-202
-
(2000)
Hum. Mol. Genet.
, vol.9
, Issue.2
, pp. 195-202
-
-
Baxter, L.L.1
Moran, T.H.2
Richtsmeier, J.T.3
Troncoso, J.4
Reeves, R.H.5
-
14
-
-
7444231620
-
A chromosome 21 critical region does not cause specific Down syndrome phenotypes
-
Olson L.E., Richtsmeier J.T., Leszl J., and Reeves R.H. A chromosome 21 critical region does not cause specific Down syndrome phenotypes. Science 306 (2004) 687-690
-
(2004)
Science
, vol.306
, pp. 687-690
-
-
Olson, L.E.1
Richtsmeier, J.T.2
Leszl, J.3
Reeves, R.H.4
-
15
-
-
33646591216
-
C21orf5, a new member of dopey family involved in morphogenesis, could participate in neurological alterations and mental retardation in Down syndrome
-
Rachidi M., Lopes C., Costantine M., and Delabar J.M. C21orf5, a new member of dopey family involved in morphogenesis, could participate in neurological alterations and mental retardation in Down syndrome. DNA Res. 12 (2005) 203-210
-
(2005)
DNA Res.
, vol.12
, pp. 203-210
-
-
Rachidi, M.1
Lopes, C.2
Costantine, M.3
Delabar, J.M.4
-
16
-
-
0029762298
-
Cerebellar contribution to spatial event processing: Morris water maze and T-maze
-
Petrosini L., Molinari M., and Dell'Anna M.E. Cerebellar contribution to spatial event processing: Morris water maze and T-maze. Eur. J. Neurosci. 8 (1996) 1882-1896
-
(1996)
Eur. J. Neurosci.
, vol.8
, pp. 1882-1896
-
-
Petrosini, L.1
Molinari, M.2
Dell'Anna, M.E.3
-
17
-
-
0031984480
-
SET domain proteins modulated chromatin domains in eu- and heterochromatin
-
Jenuwein T., Laible G., Dorn R., and Reuter G. SET domain proteins modulated chromatin domains in eu- and heterochromatin. Cell. Mol. Life Sci. 54 (1998) 80-93
-
(1998)
Cell. Mol. Life Sci.
, vol.54
, pp. 80-93
-
-
Jenuwein, T.1
Laible, G.2
Dorn, R.3
Reuter, G.4
-
18
-
-
0026476532
-
Immunohistochemical localization of carbonyl reductase in human tissues
-
Wirth H., and Wermuth B. Immunohistochemical localization of carbonyl reductase in human tissues. J. Histochem. Cytochem. 40 (1992) 1857-1863
-
(1992)
J. Histochem. Cytochem.
, vol.40
, pp. 1857-1863
-
-
Wirth, H.1
Wermuth, B.2
-
19
-
-
3543097554
-
Gene expression from the aneuploid chromosome in a trisomy mouse model of Down syndrome
-
Lyle R., Gehrig C., Neergaard-Henrichsen C., Deutsch S., and Antonarakis S.E. Gene expression from the aneuploid chromosome in a trisomy mouse model of Down syndrome. Genome Res. 14 (2004) 1268-1274
-
(2004)
Genome Res.
, vol.14
, pp. 1268-1274
-
-
Lyle, R.1
Gehrig, C.2
Neergaard-Henrichsen, C.3
Deutsch, S.4
Antonarakis, S.E.5
-
20
-
-
0042268004
-
Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: challenging the gene dosage effect hypothesis (part IV)
-
Cheon M.S., Shim K.S., Kim S.H., Hara A., and Lubec G. Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: challenging the gene dosage effect hypothesis (part IV). Amino Acids 25 (2003) 41-47
-
(2003)
Amino Acids
, vol.25
, pp. 41-47
-
-
Cheon, M.S.1
Shim, K.S.2
Kim, S.H.3
Hara, A.4
Lubec, G.5
-
21
-
-
0037036435
-
The newly identified human nuclear protein NXP-2 possesses three distinct domains, the nuclear matrix-binding, RNA-binding, and coiled-coil domains
-
Kimura Y., Sakai F., Nakano O., Kisaki O., Sugimoto H., Sawamura T., Sadano H., and Osumi T. The newly identified human nuclear protein NXP-2 possesses three distinct domains, the nuclear matrix-binding, RNA-binding, and coiled-coil domains. J. Biol. Chem. 277 (2002) 20611-20617
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 20611-20617
-
-
Kimura, Y.1
Sakai, F.2
Nakano, O.3
Kisaki, O.4
Sugimoto, H.5
Sawamura, T.6
Sadano, H.7
Osumi, T.8
-
22
-
-
0029011919
-
The p150 and p60 subunits of chromatin assembly factor I: a molecular link between newly synthesized histones and DNA replication
-
Kaufman P.D., Kobayashi R., Kessler N., and Stillman B. The p150 and p60 subunits of chromatin assembly factor I: a molecular link between newly synthesized histones and DNA replication. Cell 81 (1995) 1105-1114
-
(1995)
Cell
, vol.81
, pp. 1105-1114
-
-
Kaufman, P.D.1
Kobayashi, R.2
Kessler, N.3
Stillman, B.4
-
23
-
-
1642312883
-
Silencing of chromatin assembly factor 1 in human cells leads to cell death and loss of chromatin assembly during DNA synthesis
-
Nabatiyan A., and Krude T. Silencing of chromatin assembly factor 1 in human cells leads to cell death and loss of chromatin assembly during DNA synthesis. Mol. Cell. Biol. 24 (2004) 2853-2862
-
(2004)
Mol. Cell. Biol.
, vol.24
, pp. 2853-2862
-
-
Nabatiyan, A.1
Krude, T.2
-
24
-
-
1542405143
-
Reduction of chromatin assembly factor 1 p60 and C21orf2 protein, encoded on chromosome 21, in Down syndrome brain
-
Shim K.S., Bergelson J.M., Furuse M., Ovod V., Krude T., and Lubec G. Reduction of chromatin assembly factor 1 p60 and C21orf2 protein, encoded on chromosome 21, in Down syndrome brain. J. Neural Transm. Suppl. 67 (2003) 117-128
-
(2003)
J. Neural Transm. Suppl.
, vol.67
, pp. 117-128
-
-
Shim, K.S.1
Bergelson, J.M.2
Furuse, M.3
Ovod, V.4
Krude, T.5
Lubec, G.6
-
25
-
-
33645963995
-
Claudins and epithelial paracellular transport
-
Van Itallie C.M., and Anderson J.M. Claudins and epithelial paracellular transport. Annu. Rev. Physiol. 68 (2006) 403-429
-
(2006)
Annu. Rev. Physiol.
, vol.68
, pp. 403-429
-
-
Van Itallie, C.M.1
Anderson, J.M.2
-
26
-
-
17744380785
-
Mutations in the gene encoding tight junction Claudin-14 cause autosomal recessive deafness DFNB29
-
Wilcox E.R., Burton Q.L., Naz S., Riazuddin S., Smith T.N., Plopis B., Belyantseva I., Ben-Yosef T., Liburd N.A., Morell R.J., Kachar B., Wu D.K., Griffith A.J., Riazuddin S., and Friedman T.B. Mutations in the gene encoding tight junction Claudin-14 cause autosomal recessive deafness DFNB29. Cell 104 (2001) 165-172
-
(2001)
Cell
, vol.104
, pp. 165-172
-
-
Wilcox, E.R.1
Burton, Q.L.2
Naz, S.3
Riazuddin, S.4
Smith, T.N.5
Plopis, B.6
Belyantseva, I.7
Ben-Yosef, T.8
Liburd, N.A.9
Morell, R.J.10
Kachar, B.11
Wu, D.K.12
Griffith, A.J.13
Riazuddin, S.14
Friedman, T.B.15
-
27
-
-
0037566816
-
The differentially expressed C21orf5 gene in the medial temporal-lobe system could play a role in mental retardation in Down syndrome and transgenic mice
-
Lopes C., Chettouh Z., Delabar J.M., and Rachidi M. The differentially expressed C21orf5 gene in the medial temporal-lobe system could play a role in mental retardation in Down syndrome and transgenic mice. Biochem. Biophys. Res. Commun. 305 (2003) 915-924
-
(2003)
Biochem. Biophys. Res. Commun.
, vol.305
, pp. 915-924
-
-
Lopes, C.1
Chettouh, Z.2
Delabar, J.M.3
Rachidi, M.4
-
28
-
-
27644561257
-
C21orf5, a human candidate gene for brain abnormalities and mental retardation in Down syndrome
-
Rachidi M., Lopes C., Delezoide A.L., and Delabar J.M. C21orf5, a human candidate gene for brain abnormalities and mental retardation in Down syndrome. Cytogenet. Genome Res. 112 (2006) 16-22
-
(2006)
Cytogenet. Genome Res.
, vol.112
, pp. 16-22
-
-
Rachidi, M.1
Lopes, C.2
Delezoide, A.L.3
Delabar, J.M.4
-
29
-
-
0033948226
-
Morphogenesis in Aspergillus nidulans requires Dopey (DopA), a member of a novel family of leucine zipper-like proteins conserved from yeast to humans
-
Pascon R.C., and Miller B.L. Morphogenesis in Aspergillus nidulans requires Dopey (DopA), a member of a novel family of leucine zipper-like proteins conserved from yeast to humans. Mol. Microbiol. 36 (2000) 1250-1264
-
(2000)
Mol. Microbiol.
, vol.36
, pp. 1250-1264
-
-
Pascon, R.C.1
Miller, B.L.2
-
30
-
-
0029894792
-
The yeast genome project: what did we learn?
-
Dujon B. The yeast genome project: what did we learn?. Trends Genet. 12 (1996) 263-270
-
(1996)
Trends Genet.
, vol.12
, pp. 263-270
-
-
Dujon, B.1
-
31
-
-
0034662788
-
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning
-
Guipponi M., Brunschwig K., Chamoun Z., Scott H.S., Shibuya K., Kudoh J., Delezoide A.L., El Samadi S., Chettouh Z., Rossier C., Shimizu N., Mueller F., Delabar J.M., and Antonarakis S.E. C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning. Genomics 68 (2000) 30-40
-
(2000)
Genomics
, vol.68
, pp. 30-40
-
-
Guipponi, M.1
Brunschwig, K.2
Chamoun, Z.3
Scott, H.S.4
Shibuya, K.5
Kudoh, J.6
Delezoide, A.L.7
El Samadi, S.8
Chettouh, Z.9
Rossier, C.10
Shimizu, N.11
Mueller, F.12
Delabar, J.M.13
Antonarakis, S.E.14
-
32
-
-
33644503868
-
Identification of pathways regulation cell size and cell-cycle progression by RNAi
-
Bjorklund M., Taipale M., Varjosalo M., Saharinen J., Lahdenpera J., and Taipale J. Identification of pathways regulation cell size and cell-cycle progression by RNAi. Nature 439 (2006) 1009-1013
-
(2006)
Nature
, vol.439
, pp. 1009-1013
-
-
Bjorklund, M.1
Taipale, M.2
Varjosalo, M.3
Saharinen, J.4
Lahdenpera, J.5
Taipale, J.6
-
33
-
-
33644865136
-
Mon2, a relative of large Arf exchange factors, recruits Dop1 to the Golgi apparatus
-
Gillingham A.K., Whyte J.R., Panic B., and Munro S. Mon2, a relative of large Arf exchange factors, recruits Dop1 to the Golgi apparatus. J. Biol. Chem. 281 (2006) 2273-2280
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 2273-2280
-
-
Gillingham, A.K.1
Whyte, J.R.2
Panic, B.3
Munro, S.4
|