-
1
-
-
3543035792
-
-
ADAMS, D. J., P. J. BIGGS, T. COX, R. DAVIES, L. VAN DER WEYDEN et al., 2004 Mutagenic insertion and chromosome engineering resource (MICER). Nat. Genet. 36: 867-871.
-
ADAMS, D. J., P. J. BIGGS, T. COX, R. DAVIES, L. VAN DER WEYDEN et al., 2004 Mutagenic insertion and chromosome engineering resource (MICER). Nat. Genet. 36: 867-871.
-
-
-
-
2
-
-
32844460938
-
Copy number polymorphismin Fcgr3 predisposes to glomerulonephritis in rats and humans
-
AITMAN, T. J., R. DONG, T. J. VYSE, P. J. NORSWORTHY, M. D. JOHNSON et al., 2006 Copy number polymorphismin Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 439: 851-855.
-
(2006)
Nature
, vol.439
, pp. 851-855
-
-
AITMAN, T.J.1
DONG, R.2
VYSE, T.J.3
NORSWORTHY, P.J.4
JOHNSON, M.D.5
-
3
-
-
23044514802
-
Training and aging modulate the loss-of-balance phenotype observed in a new ENU-induced allele of Otopetrin1
-
BESSON, V., V. NALESSO, A. HERPIN, J. C. BIZOT, N. MESSADDEQ et al., 2005 Training and aging modulate the loss-of-balance phenotype observed in a new ENU-induced allele of Otopetrin1. Biol. Cell 97: 787-798.
-
(2005)
Biol. Cell
, vol.97
, pp. 787-798
-
-
BESSON, V.1
NALESSO, V.2
HERPIN, A.3
BIZOT, J.C.4
MESSADDEQ, N.5
-
4
-
-
34548387018
-
Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses
-
BESSON, V., V. BRAULT, A. DUCHON, D. TOGBE, J. C. BIZOT et al., 2007 Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses. Hum. Mol. Genet. 16: 2040-2052.
-
(2007)
Hum. Mol. Genet
, vol.16
, pp. 2040-2052
-
-
BESSON, V.1
BRAULT, V.2
DUCHON, A.3
TOGBE, D.4
BIZOT, J.C.5
-
5
-
-
33746659123
-
Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization
-
BRAULT, V., P. PEREIRA, A. DUCHON and Y. HERAULT, 2006 Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization. PLoS Genet. 2: e86.
-
(2006)
PLoS Genet
, vol.2
-
-
BRAULT, V.1
PEREIRA, P.2
DUCHON, A.3
HERAULT, Y.4
-
6
-
-
34547697696
-
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics
-
CHEUNG, S. W., C. A. SHAW, D. A. SCOTT, A. PATEL, T. SAHOO et al., 2007 Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am. J. Med. Genet. A 143: 1679-1686.
-
(2007)
Am. J. Med. Genet. A
, vol.143
, pp. 1679-1686
-
-
CHEUNG, S.W.1
SHAW, C.A.2
SCOTT, D.A.3
PATEL, A.4
SAHOO, T.5
-
7
-
-
0033177995
-
Conditional gene targeting in macrophages and granulocytes using LysMcre mice
-
CLAUSEN, B. E., C. BURKHARDT, W. REITH, R. RENKAWITZ and I. FORSTER, 1999 Conditional gene targeting in macrophages and granulocytes using LysMcre mice. Transgenic Res. 8: 265-277.
-
(1999)
Transgenic Res
, vol.8
, pp. 265-277
-
-
CLAUSEN, B.E.1
BURKHARDT, C.2
REITH, W.3
RENKAWITZ, R.4
FORSTER, I.5
-
8
-
-
0034019920
-
Expression of Cre recombinase in mouse oocytes: A means to study maternal effect genes
-
DE VRIES, W. N., L. T. BINNS, K. S. FANCHER, J. DEAN, R. MOORE et al., 2000 Expression of Cre recombinase in mouse oocytes: a means to study maternal effect genes. Genesis 26: 110-112.
-
(2000)
Genesis
, vol.26
, pp. 110-112
-
-
DE VRIES, W.N.1
BINNS, L.T.2
FANCHER, K.S.3
DEAN, J.4
MOORE, R.5
-
9
-
-
0031040738
-
In vivo functional analysis of the Hoxa-1 3′ retinoic acid response element (3′ RARE)
-
DUPE, V., M. DAVENNE, J. BROCARD, P. DOLLE, M. MARK et al., 1997 In vivo functional analysis of the Hoxa-1 3′ retinoic acid response element (3′ RARE). Development 124: 399-410.
-
(1997)
Development
, vol.124
, pp. 399-410
-
-
DUPE, V.1
DAVENNE, M.2
BROCARD, J.3
DOLLE, P.4
MARK, M.5
-
10
-
-
33748558056
-
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon
-
FELLERMANN, K., D. E. STANGE, E. SCHAEFFELER, H. SCHMALZL, J. WEHKAMP et al., 2006 A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am. J. Hum. Genet. 79: 439-448.
-
(2006)
Am. J. Hum. Genet
, vol.79
, pp. 439-448
-
-
FELLERMANN, K.1
STANGE, D.E.2
SCHAEFFELER, E.3
SCHMALZL, H.4
WEHKAMP, J.5
-
12
-
-
33751113031
-
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia
-
FEUK, L., A. KALERVO, M. LIPSANEN-N YMAN, J. SKAUG, K. NAKABAYASHI et al., 2006b Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am. J. Hum. Genet. 79: 965-972.
-
(2006)
Am. J. Hum. Genet
, vol.79
, pp. 965-972
-
-
FEUK, L.1
KALERVO, A.2
LIPSANEN, M.3
YMAN, N.4
SKAUG, J.5
NAKABAYASHI, K.6
-
13
-
-
33746741125
-
Copy number variation: New insights in genome diversity
-
FREEMAN, J. L., G. H. PERRY, L. FEUK, R. REDON, S. A. MCCARROLL et al., 2006 Copy number variation: new insights in genome diversity. Genome Res. 16: 949-961.
-
(2006)
Genome Res
, vol.16
, pp. 949-961
-
-
FREEMAN, J.L.1
PERRY, G.H.2
FEUK, L.3
REDON, R.4
MCCARROLL, S.A.5
-
14
-
-
1642488879
-
Disruption of Doppel prevents neurodegeneration in mice with extensive Prnp deletions
-
GENOUD, N., A. BEHRENS, G. MIELE, D. ROBAY, F. L. HEPPNER et al., 2004 Disruption of Doppel prevents neurodegeneration in mice with extensive Prnp deletions. Proc. Natl. Acad. Sci. USA 101: 4198-4203.
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 4198-4203
-
-
GENOUD, N.1
BEHRENS, A.2
MIELE, G.3
ROBAY, D.4
HEPPNER, F.L.5
-
15
-
-
20044377204
-
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
-
GONZALEZ, E., H. KULKARNI, H. BOLIVAR, A. MANGANO, R. SANCHEZ et al., 2005 The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307: 1434-1440.
-
(2005)
Science
, vol.307
, pp. 1434-1440
-
-
GONZALEZ, E.1
KULKARNI, H.2
BOLIVAR, H.3
MANGANO, A.4
SANCHEZ, R.5
-
16
-
-
0030941126
-
European collaborative research on mosaicism in CVS (EUCROMIC)-fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy
-
HAHNEMANN, J. M., and L. O. VEJERSLEV, 1997 European collaborative research on mosaicism in CVS (EUCROMIC)-fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy. Am. J. Med. Genet. 70: 179-187.
-
(1997)
Am. J. Med. Genet
, vol.70
, pp. 179-187
-
-
HAHNEMANN, J.M.1
VEJERSLEV, L.O.2
-
17
-
-
0035319804
-
To err (meiotically) is human: The genesis of human aneuploidy
-
HASSOLD, T., and P. HUNT, 2001 To err (meiotically) is human: the genesis of human aneuploidy. Nat. Rev. Genet. 2: 280-291.
-
(2001)
Nat. Rev. Genet
, vol.2
, pp. 280-291
-
-
HASSOLD, T.1
HUNT, P.2
-
18
-
-
38449087657
-
The origin of human aneuploidy: Where we have been, where we are going
-
HASSOLD, T., H. HALL and P. HUNT, 2007 The origin of human aneuploidy: where we have been, where we are going. Hum. Mol. Genet. 16 (Spec No. 2): R203-R208.
-
(2007)
Hum. Mol. Genet
, vol.16
, Issue.SPEC 2
-
-
HASSOLD, T.1
HALL, H.2
HUNT, P.3
-
19
-
-
0031770816
-
Engineering chromosomes in mice through targeted meiotic recombination (TAMERE)
-
HERAULT, Y., M. RASSOULZADEGAN, F. CUZIN and D. DUBOULE, 1998 Engineering chromosomes in mice through targeted meiotic recombination (TAMERE). Nat. Genet. 20: 381-384.
-
(1998)
Nat. Genet
, vol.20
, pp. 381-384
-
-
HERAULT, Y.1
RASSOULZADEGAN, M.2
CUZIN, F.3
DUBOULE, D.4
-
20
-
-
37549033125
-
Psoriasis is associated with increased beta-defensin genomic copy number
-
HOLLOX, E. J., U. HUFFMEIER, P. L. ZEEUWEN, R. PALLA, J. LASCORZ et al., 2008 Psoriasis is associated with increased beta-defensin genomic copy number. Nat. Genet. 40: 23-25.
-
(2008)
Nat. Genet
, vol.40
, pp. 23-25
-
-
HOLLOX, E.J.1
HUFFMEIER, U.2
ZEEUWEN, P.L.3
PALLA, R.4
LASCORZ, J.5
-
21
-
-
0034323074
-
Cre-mediated germline mosaicism: A method allowing rapid generation of several alleles of a target gene
-
HOLZENBERGER, M., C. LENZNER, P. LENEUVE, R. ZAOUI, G. HAMARD et al., 2000 Cre-mediated germline mosaicism: a method allowing rapid generation of several alleles of a target gene. Nucleic Acids Res. 28: 21.
-
(2000)
Nucleic Acids Res
, vol.28
, pp. 21
-
-
HOLZENBERGER, M.1
LENZNER, C.2
LENEUVE, P.3
ZAOUI, R.4
HAMARD, G.5
-
22
-
-
33646486987
-
Chromosomal variation in mammalian neuronal cells: Known facts and attractive hypotheses
-
IOUROV, I. Y., S. G. VORSANOVA and Y. B. YUROV, 2006 Chromosomal variation in mammalian neuronal cells: known facts and attractive hypotheses. Int. Rev. Cytol. 249: 143-191.
-
(2006)
Int. Rev. Cytol
, vol.249
, pp. 143-191
-
-
IOUROV, I.Y.1
VORSANOVA, S.G.2
YUROV, Y.B.3
-
23
-
-
0034049607
-
Pathogenesis of chromosomal mosaicism and its effect on early human development
-
KALOUSEK, D. K., 2000 Pathogenesis of chromosomal mosaicism and its effect on early human development. Am. J. Med. Genet. 91: 39-45.
-
(2000)
Am. J. Med. Genet
, vol.91
, pp. 39-45
-
-
KALOUSEK, D.K.1
-
24
-
-
1042280229
-
Mitotic errors in chromosome 21 of human preimplantation embryos are associated with non-viability
-
KATZ-JAFFE, M. G., A. O. TROUNSON and D. S. CRAM, 2004 Mitotic errors in chromosome 21 of human preimplantation embryos are associated with non-viability. Mol. Hum. Reprod. 10: 143-147.
-
(2004)
Mol. Hum. Reprod
, vol.10
, pp. 143-147
-
-
KATZ-JAFFE, M.G.1
TROUNSON, A.O.2
CRAM, D.S.3
-
25
-
-
24944433962
-
Chromosome 21 mosaic human preimplantation embryos predominantly arise from diploid conceptions
-
KATZ-JAFFE, M. G., A. O. TROUNSON and D. S. CRAM, 2005 Chromosome 21 mosaic human preimplantation embryos predominantly arise from diploid conceptions. Fertil. Steril. 84: 634-643.
-
(2005)
Fertil. Steril
, vol.84
, pp. 634-643
-
-
KATZ-JAFFE, M.G.1
TROUNSON, A.O.2
CRAM, D.S.3
-
26
-
-
43049143055
-
Mapping and sequencing of structural variation from eight human genomes
-
KIDD, J. M., G. M. COOPER, W. F. DONAHUE, H. S. HAYDEN, N. SAMPAS et al., 2008 Mapping and sequencing of structural variation from eight human genomes. Nature 453: 56-64.
-
(2008)
Nature
, vol.453
, pp. 56-64
-
-
KIDD, J.M.1
COOPER, G.M.2
DONAHUE, W.F.3
HAYDEN, H.S.4
SAMPAS, N.5
-
27
-
-
17844395196
-
Aneuploid neurons are functionally active and integrated into brain circuitry
-
KINGSBURY, M. A., B. FRIEDMAN, M. J. MCCONNELL, S. K. REHEN, A. H. YANG et al., 2005 Aneuploid neurons are functionally active and integrated into brain circuitry. Proc. Natl. Acad. Sci. USA 102: 6143-6147.
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 6143-6147
-
-
KINGSBURY, M.A.1
FRIEDMAN, B.2
MCCONNELL, M.J.3
REHEN, S.K.4
YANG, A.H.5
-
28
-
-
33751279395
-
Aneuploidy in the normal and diseased brain
-
KINGSBURY, M. A., Y. C. YUNG, S. E. PETERSON, J. W. WESTRA and J. CHUN, 2006 Aneuploidy in the normal and diseased brain. Cell. Mol. Life Sci. 63: 2626-2641.
-
(2006)
Cell. Mol. Life Sci
, vol.63
, pp. 2626-2641
-
-
KINGSBURY, M.A.1
YUNG, Y.C.2
PETERSON, S.E.3
WESTRA, J.W.4
CHUN, J.5
-
29
-
-
0037079049
-
Serial deletions and duplications suggest a mechanism for the collinearity of Hoxd genes in limbs
-
KMITA, M., N. FRAUDEAU, Y. HERAULT and D. DUBOULE, 2002 Serial deletions and duplications suggest a mechanism for the collinearity of Hoxd genes in limbs. Nature 420: 145-150.
-
(2002)
Nature
, vol.420
, pp. 145-150
-
-
KMITA, M.1
FRAUDEAU, N.2
HERAULT, Y.3
DUBOULE, D.4
-
30
-
-
0031252296
-
Cre-mediated chromosome loss in mice
-
LEWANDOSKI, M., and G. R. MARTIN, 1997 Cre-mediated chromosome loss in mice. Nat. Genet. 17: 223-225.
-
(1997)
Nat. Genet
, vol.17
, pp. 223-225
-
-
LEWANDOSKI, M.1
MARTIN, G.R.2
-
31
-
-
0036338128
-
Efficient Cre-loxP-induced mitotic recombination in mouse embryonic stem cells
-
LIU, P., N. A. JENKINS and N. G. COPELAND, 2002 Efficient Cre-loxP-induced mitotic recombination in mouse embryonic stem cells. Nat. Genet. 30: 66-72.
-
(2002)
Nat. Genet
, vol.30
, pp. 66-72
-
-
LIU, P.1
JENKINS, N.A.2
COPELAND, N.G.3
-
32
-
-
0031770040
-
Embryonic lethality and tumorigenesis caused by segmental aneuploidy on mouse chromosome 11
-
LIU, P., H. ZHANG, A. MCLELLAN, H. VOGEL and A. BRADLEY, 1998 Embryonic lethality and tumorigenesis caused by segmental aneuploidy on mouse chromosome 11. Genetics 150: 1155-1168.
-
(1998)
Genetics
, vol.150
, pp. 1155-1168
-
-
LIU, P.1
ZHANG, H.2
MCLELLAN, A.3
VOGEL, H.4
BRADLEY, A.5
-
33
-
-
0036896143
-
Cohesin release is required for sister chromatid resolution, but not for condensin-mediated compaction, at the onset of mitosis
-
LOSADA, A., M. HIRANO and T. HIRANO, 2002 Cohesin release is required for sister chromatid resolution, but not for condensin-mediated compaction, at the onset of mitosis. Genes Dev. 16: 3004-3016.
-
(2002)
Genes Dev
, vol.16
, pp. 3004-3016
-
-
LOSADA, A.1
HIRANO, M.2
HIRANO, T.3
-
34
-
-
34547664096
-
Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes
-
LUPSKI, J. R., and P. STANKIEWICZ, 2005 Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet. 1: e49.
-
(2005)
PLoS Genet
, vol.1
-
-
LUPSKI, J.R.1
STANKIEWICZ, P.2
-
35
-
-
33645753197
-
Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart
-
MAO, R., X. WANG, E. L. SPITZNAGEL, JR., L. P. FRELIN, J. C. TING et al., 2005 Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart. Genome Biol. 6: R107.
-
(2005)
Genome Biol
, vol.6
-
-
MAO, R.1
WANG, X.2
SPITZNAGEL JR., E.L.3
FRELIN, L.P.4
TING, J.C.5
-
36
-
-
0017730153
-
Down syndrome: Cytogenetical epidemiology
-
MIKKELSEN, M., 1977 Down syndrome: cytogenetical epidemiology. Hereditas 86: 45-50.
-
(1977)
Hereditas
, vol.86
, pp. 45-50
-
-
MIKKELSEN, M.1
-
37
-
-
0038575240
-
Down syndrome: A study of chromosomal mosaicism
-
MODI, D., P. BERDE and D. BHARTIYA, 2003 Down syndrome: a study of chromosomal mosaicism. Reprod. Biomed. Online 6: 499-503.
-
(2003)
Reprod. Biomed. Online
, vol.6
, pp. 499-503
-
-
MODI, D.1
BERDE, P.2
BHARTIYA, D.3
-
38
-
-
33745593721
-
Generation of neuronal variability and complexity
-
MUOTRI, A. R., and F. H. GAGE, 2006 Generation of neuronal variability and complexity. Nature 441: 1087-1093.
-
(2006)
Nature
, vol.441
, pp. 1087-1093
-
-
MUOTRI, A.R.1
GAGE, F.H.2
-
39
-
-
12944293167
-
Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region
-
PUECH, A., B. SAINT-JORE, S. MERSCHER, R. G. RUSSELL, D. CHERIF et al., 2000 Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region. Proc. Natl. Acad. Sci. USA 97: 10090-10095.
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 10090-10095
-
-
PUECH, A.1
SAINT-JORE, B.2
MERSCHER, S.3
RUSSELL, R.G.4
CHERIF, D.5
-
40
-
-
0029562967
-
Chromosome engineering in mice
-
RAMIREZ-SOLIS, R., P. LIU and A. BRADLEY, 1995 Chromosome engineering in mice. Nature 378: 720-724.
-
(1995)
Nature
, vol.378
, pp. 720-724
-
-
RAMIREZ-SOLIS, R.1
LIU, P.2
BRADLEY, A.3
-
41
-
-
33751329250
-
Global variation in copy number in the human genome
-
REDON, R., S. ISHIKAWA, K. R. FITCH, L. FEUK, G. H. PERRY 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
-
42
-
-
0035818519
-
Chromosomal variation in neurons of the developing and adult mammalian nervous system
-
REHEN, S. K., M. J. MCCONNELL, D. KAUSHAL, M. A. KINGSBURY, A. H. YANG et al., 2001 Chromosomal variation in neurons of the developing and adult mammalian nervous system. Proc. Natl. Acad. Sci. USA 98: 13361-13366.
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 13361-13366
-
-
REHEN, S.K.1
MCCONNELL, M.J.2
KAUSHAL, D.3
KINGSBURY, M.A.4
YANG, A.H.5
-
43
-
-
20044379205
-
Constitutional aneuploidy in the normal human brain
-
REHEN, S. K., Y. C. YUNG, M. P. MCCREIGHT, D. KAUSHAL, A. H. YANG et al., 2005 Constitutional aneuploidy in the normal human brain. J. Neurosci. 25: 2176-2180.
-
(2005)
J. Neurosci
, vol.25
, pp. 2176-2180
-
-
REHEN, S.K.1
YUNG, Y.C.2
MCCREIGHT, M.P.3
KAUSHAL, D.4
YANG, A.H.5
-
44
-
-
0033532078
-
Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment
-
ROBINSON, W. P., F. BERNASCONI, A. LAU and D. E. MCFADDEN, 1999 Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment. Am. J. Med. Genet. 84: 34-42.
-
(1999)
Am. J. Med. Genet
, vol.84
, pp. 34-42
-
-
ROBINSON, W.P.1
BERNASCONI, F.2
LAU, A.3
MCFADDEN, D.E.4
-
45
-
-
0035213251
-
The origin of abnormalities in recurrent aneuploidy/polyploidy
-
ROBINSON, W. P., D. E. MCFADDEN and M. D. STEPHENSON, 2001 The origin of abnormalities in recurrent aneuploidy/polyploidy. Am. J. Hum. Genet. 69: 1245-1254.
-
(2001)
Am. J. Hum. Genet
, vol.69
, pp. 1245-1254
-
-
ROBINSON, W.P.1
MCFADDEN, D.E.2
STEPHENSON, M.D.3
-
46
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
SEBAT, J., B. LAKSHMI, D. MALHOTRA, J. TROGE, C. LESE-MARTIN et al., 2007 Strong association of de novo copy number mutations with autism. Science 316: 445-449.
-
(2007)
Science
, vol.316
, pp. 445-449
-
-
SEBAT, J.1
LAKSHMI, B.2
MALHOTRA, D.3
TROGE, J.4
LESE-MARTIN, C.5
-
47
-
-
34047114932
-
Characterization of a recurrent 15q24 microdeletion syndrome
-
SHARP, A. J., R. R. SELZER, J. A. VELTMAN, S. GIMELLI, G. GIMELLI et al., 2007 Characterization of a recurrent 15q24 microdeletion syndrome. Hum. Mol. Genet. 16: 567-572.
-
(2007)
Hum. Mol. Genet
, vol.16
, pp. 567-572
-
-
SHARP, A.J.1
SELZER, R.R.2
VELTMAN, J.A.3
GIMELLI, S.4
GIMELLI, G.5
-
48
-
-
39749154724
-
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
-
SHARP, A. J., H. C. MEFFORD, K. LI, C. BAKER, C. SKINNER et al., 2008 A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat. Genet. 40: 322-328.
-
(2008)
Nat. Genet
, vol.40
, pp. 322-328
-
-
SHARP, A.J.1
MEFFORD, H.C.2
LI, K.3
BAKER, C.4
SKINNER, C.5
-
49
-
-
1842526843
-
Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease
-
SHAW, C. J., and J. R. LUPSKI, 2004 Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum. Mol. Genet. 13 (Spec No. 1): R57-R64.
-
(2004)
Hum. Mol. Genet
, vol.13
, Issue.SPEC 1
-
-
SHAW, C.J.1
LUPSKI, J.R.2
-
50
-
-
23044477774
-
Inversion-induced disruption of the Hoxd cluster leads to the partition of regulatory landscapes
-
SPITZ, F., C. HERKENNE, M. A. MORRIS and D. DUBOULE, 2005 Inversion-induced disruption of the Hoxd cluster leads to the partition of regulatory landscapes. Nat. Genet. 37: 889-893.
-
(2005)
Nat. Genet
, vol.37
, pp. 889-893
-
-
SPITZ, F.1
HERKENNE, C.2
MORRIS, M.A.3
DUBOULE, D.4
-
51
-
-
34547491228
-
PHB2 protects sister-chromatid cohesion in mitosis
-
TAKATA, H., S. MATSUNAGA, A. MORIMOTO, N. MA, D. KURIHARA et al., 2007 PHB2 protects sister-chromatid cohesion in mitosis. Curr. Biol. 17: 1356-1361.
-
(2007)
Curr. Biol
, vol.17
, pp. 1356-1361
-
-
TAKATA, H.1
MATSUNAGA, S.2
MORIMOTO, A.3
MA, N.4
KURIHARA, D.5
-
52
-
-
0036202934
-
A Cre/loxP-deleter transgenic line in mouse strain 129S1/SvImJ
-
TANG, S. H., F. J. SILVA, W. M. TSARK and J. R. MANN, 2002 A Cre/loxP-deleter transgenic line in mouse strain 129S1/SvImJ. Genesis 32: 199-202.
-
(2002)
Genesis
, vol.32
, pp. 199-202
-
-
TANG, S.H.1
SILVA, F.J.2
TSARK, W.M.3
MANN, J.R.4
-
53
-
-
29744447562
-
Control of Hoxd genes' collinearity during early limb development
-
TARCHINI, B., and D. DUBOULE, 2006 Control of Hoxd genes' collinearity during early limb development. Dev. Cell 10: 93-103.
-
(2006)
Dev. Cell
, vol.10
, pp. 93-103
-
-
TARCHINI, B.1
DUBOULE, D.2
-
54
-
-
0032842478
-
Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety
-
TRONCHE, F., C. KELLENDONK, O. KRETZ, P. GASS, K. ANLAG et al., 1999 Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety. Nat. Genet. 23: 99-103.
-
(1999)
Nat. Genet
, vol.23
, pp. 99-103
-
-
TRONCHE, F.1
KELLENDONK, C.2
KRETZ, O.3
GASS, P.4
ANLAG, K.5
-
55
-
-
35948943082
-
Aneuploidy: Instigator and inhibitor of tumorigenesis
-
WEAVER, B. A., and D. W. CLEVELAND, 2007 Aneuploidy: instigator and inhibitor of tumorigenesis. Cancer Res. 67: 10103-10105.
-
(2007)
Cancer Res
, vol.67
, pp. 10103-10105
-
-
WEAVER, B.A.1
CLEVELAND, D.W.2
-
56
-
-
34347337601
-
Toward simpler and faster genome-wide mutagenesis in mice
-
WU, S., G. YING, Q. WU and M. R. CAPECCHI, 2007 Toward simpler and faster genome-wide mutagenesis in mice. Nat. Genet. 39: 922-930.
-
(2007)
Nat. Genet
, vol.39
, pp. 922-930
-
-
WU, S.1
YING, G.2
WU, Q.3
CAPECCHI, M.R.4
-
57
-
-
0035490099
-
Engineering chromosomal rearrangements in mice
-
YU, Y., and A. BRADLEY, 2001 Engineering chromosomal rearrangements in mice. Nat. Rev. Genet. 2: 780-790.
-
(2001)
Nat. Rev. Genet
, vol.2
, pp. 780-790
-
-
YU, Y.1
BRADLEY, A.2
-
58
-
-
37049012350
-
-
YUROV, Y. B., I. Y. IOUROV, S. G. VORSANOVA, T. LIEHR, A. D. KOLOTII et al., 2007a Aneuploidy and confined chromosomal mosaicism in the developing human brain. PLoS ONE 2: e558.
-
YUROV, Y. B., I. Y. IOUROV, S. G. VORSANOVA, T. LIEHR, A. D. KOLOTII et al., 2007a Aneuploidy and confined chromosomal mosaicism in the developing human brain. PLoS ONE 2: e558.
-
-
-
-
59
-
-
34548225995
-
Unexplained autism is frequently associated with low-level mosaic aneuploidy
-
YUROV, Y. B., S. G. VORSANOVA, I. Y. IOUROV, I. A. DEMIDOVA, A. K. BERESHEVA et al., 2007b Unexplained autism is frequently associated with low-level mosaic aneuploidy. J. Med. Genet. 44: 521-525.
-
(2007)
J. Med. Genet
, vol.44
, pp. 521-525
-
-
YUROV, Y.B.1
VORSANOVA, S.G.2
IOUROV, I.Y.3
DEMIDOVA, I.A.4
BERESHEVA, A.K.5
-
60
-
-
37049032150
-
The schizophrenia brain exhibits low-level aneuploidy involving chromosome1
-
YUROV, Y. B., I. Y. IOUROV, S. G. VORSANOVA, I. A. DEMIDOVA, V. S. KRAVETZ et al., 2008 The schizophrenia brain exhibits low-level aneuploidy involving chromosome1. Schizophr. Res. 98: 139-147.
-
(2008)
Schizophr. Res
, vol.98
, pp. 139-147
-
-
YUROV, Y.B.1
IOUROV, I.Y.2
VORSANOVA, S.G.3
DEMIDOVA, I.A.4
KRAVETZ, V.S.5
-
61
-
-
0029854152
-
Synpolydactyly in mice with a targeted deficiency in the HoxD complex
-
ZAKANY, J., and D. DUBOULE, 1996 Synpolydactyly in mice with a targeted deficiency in the HoxD complex. Nature 384: 69-71.
-
(1996)
Nature
, vol.384
, pp. 69-71
-
-
ZAKANY, J.1
DUBOULE, D.2
-
62
-
-
2942694533
-
A dual role for Hox genes in limb anterior-posterior asymmetry
-
ZAKANY, J., M. KMITA and D. DUBOULE, 2004 A dual role for Hox genes in limb anterior-posterior asymmetry. Science 304: 1669-1672.
-
(2004)
Science
, vol.304
, pp. 1669-1672
-
-
ZAKANY, J.1
KMITA, M.2
DUBOULE, D.3
-
63
-
-
0033152654
-
A system for rapid generation of coat color-tagged knockouts and defined chromosomal rearrangements in mice
-
ZHENG, B., A. A. MILLS and A. BRADLEY, 1999 A system for rapid generation of coat color-tagged knockouts and defined chromosomal rearrangements in mice. Nucleic Acids Res. 27: 2354-2360.
-
(1999)
Nucleic Acids Res
, vol.27
, pp. 2354-2360
-
-
ZHENG, B.1
MILLS, A.A.2
BRADLEY, A.3
-
64
-
-
0033985437
-
Engineering mouse chromosomes with Cre-loxP: Range, efficiency, and somatic applications
-
ZHENG, B., M. SAGE, E. A. SHEPPEARD, V. JURECIC and A. BRADLEY, 2000 Engineering mouse chromosomes with Cre-loxP: range, efficiency, and somatic applications. Mol. Cell. Biol. 20: 648-655.
-
(2000)
Mol. Cell. Biol
, vol.20
, pp. 648-655
-
-
ZHENG, B.1
SAGE, M.2
SHEPPEARD, E.A.3
JURECIC, V.4
BRADLEY, A.5
-
65
-
-
18844421090
-
Mosaic analysis with double markers in mice
-
ZONG, H., J. S. ESPINOSA, H. H. SU, M. D. MUZUMDAR and L. LUO, 2005 Mosaic analysis with double markers in mice. Cell 121: 479-492.
-
(2005)
Cell
, vol.121
, pp. 479-492
-
-
ZONG, H.1
ESPINOSA, J.S.2
SU, H.H.3
MUZUMDAR, M.D.4
LUO, L.5
|