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Sensitized phenotypic screening identifies gene dosage sensitive region on chromosome 11 that predisposes to disease in mice.

Ermakova O, Piszczek L, Luciani L, Cavalli FM, Ferreira T, Farley D, Rizzo S, Paolicelli RC, Al-Banchaabouchi M, Nerlov C, Moriggl R, Luscombe NM, Gross C.

EMBO Mol Med. 2011 Jan;3(1):50-66. doi: 10.1002/emmm.201000112.


Construction and phenotypic analysis of mice carrying a duplication of the major histocompatibility class I (MHC-I) locus.

Ermakova O, Salimova E, Piszczek L, Gross C.

Mamm Genome. 2012 Aug;23(7-8):443-53. doi: 10.1007/s00335-012-9401-7. Epub 2012 Jul 7.


Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).

Walz K, Paylor R, Yan J, Bi W, Lupski JR.

J Clin Invest. 2006 Nov;116(11):3035-41. Epub 2006 Oct 5.


Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes.

Arbogast T, Ouagazzal AM, Chevalier C, Kopanitsa M, Afinowi N, Migliavacca E, Cowling BS, Birling MC, Champy MF, Reymond A, Herault Y.

PLoS Genet. 2016 Feb 12;12(2):e1005709. doi: 10.1371/journal.pgen.1005709. eCollection 2016 Feb.


Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.

Ricard G, Molina J, Chrast J, Gu W, Gheldof N, Pradervand S, Schütz F, Young JI, Lupski JR, Reymond A, Walz K.

PLoS Biol. 2010 Nov 23;8(11):e1000543. doi: 10.1371/journal.pbio.1000543.


Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.

Walz K, Caratini-Rivera S, Bi W, Fonseca P, Mansouri DL, Lynch J, Vogel H, Noebels JL, Bradley A, Lupski JR.

Mol Cell Biol. 2003 May;23(10):3646-55.


Altered Microglia in the Amygdala Are Involved in Anxiety-related Behaviors of a Copy Number Variation Mouse Model of Autism.

Shigemori T, Sakai A, Takumi T, Itoh Y, Suzuki H.

J Nippon Med Sch. 2015;82(2):92-9. doi: 10.1272/jnms.82.92.


Are copy number variants associated with adolescent idiopathic scoliosis?

Buchan JG, Alvarado DM, Haller G, Aferol H, Miller NH, Dobbs MB, Gurnett CA.

Clin Orthop Relat Res. 2014 Oct;472(10):3216-25. doi: 10.1007/s11999-014-3766-8. Epub 2014 Jul 9.


New techniques to understand chromosome dosage: mouse models of aneuploidy.

Tybulewicz VL, Fisher EM.

Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R103-9. Review.


Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome.

Amano K, Sago H, Uchikawa C, Suzuki T, Kotliarova SE, Nukina N, Epstein CJ, Yamakawa K.

Hum Mol Genet. 2004 Jul 1;13(13):1333-40. Epub 2004 May 11.


Segmental trisomy of chromosome 17: a mouse model of human aneuploidy syndromes.

Vacík T, Ort M, Gregorová S, Strnad P, Blatny R, Conte N, Bradley A, Bures J, Forejt J.

Proc Natl Acad Sci U S A. 2005 Mar 22;102(12):4500-5. Epub 2005 Mar 8.


Immunogenetics of leishmanial and mycobacterial infections: the Belem Family Study.

Blackwell JM, Black GF, Peacock CS, Miller EN, Sibthorpe D, Gnananandha D, Shaw JJ, Silveira F, Lins-Lainson Z, Ramos F, Collins A, Shaw MA.

Philos Trans R Soc Lond B Biol Sci. 1997 Sep 29;352(1359):1331-45. Review.


Mouse models of aneuploidy.

Sheppard O, Wiseman FK, Ruparelia A, Tybulewicz VL, Fisher EM.

ScientificWorldJournal. 2012;2012:214078. doi: 10.1100/2012/214078. Epub 2012 Jan 3. Review.


A chromosome 21 critical region does not cause specific Down syndrome phenotypes.

Olson LE, Richtsmeier JT, Leszl J, Reeves RH.

Science. 2004 Oct 22;306(5696):687-90.


Increased gene dosage of the Ink4/Arf locus does not attenuate atherosclerosis development in hypercholesterolaemic mice.

Fuster JJ, Molina-Sánchez P, Jovaní D, Vinué Á, Serrano M, Andrés V.

Atherosclerosis. 2012 Mar;221(1):98-105. doi: 10.1016/j.atherosclerosis.2011.12.013. Epub 2011 Dec 17.


Aneuploidy and chromosomal instability: a vicious cycle driving cellular evolution and cancer genome chaos.

Potapova TA, Zhu J, Li R.

Cancer Metastasis Rev. 2013 Dec;32(3-4):377-89. doi: 10.1007/s10555-013-9436-6. Review.


Aneuploid proliferation defects in yeast are not driven by copy number changes of a few dosage-sensitive genes.

Bonney ME, Moriya H, Amon A.

Genes Dev. 2015 May 1;29(9):898-903. doi: 10.1101/gad.261743.115.


Dosage compensation can buffer copy-number variation in wild yeast.

Hose J, Yong CM, Sardi M, Wang Z, Newton MA, Gasch AP.

Elife. 2015 May 8;4. doi: 10.7554/eLife.05462. Erratum in: Elife. 2016;5. pii: e15743. doi: 10.7554/eLife.15743.


Gene expression signature of cerebellar hypoplasia in a mouse model of Down syndrome during postnatal development.

Laffaire J, Rivals I, Dauphinot L, Pasteau F, Wehrle R, Larrat B, Vitalis T, Moldrich RX, Rossier J, Sinkus R, Herault Y, Dusart I, Potier MC.

BMC Genomics. 2009 Mar 30;10:138. doi: 10.1186/1471-2164-10-138.

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