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Results: 1 to 20 of 34

1.

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

Babbs C, Lloyd D, Pagnamenta AT, Twigg SR, Green J, McGowan SJ, Mirza G, Naples R, Sharma VP, Volpi EV, Buckle VJ, Wall SA, Knight SJ; International Molecular Genetic Study of Autism Consortium (IMGSAC),, Parr JR, Wilkie AO.

J Med Genet. 2014 Sep 16. pii: jmedgenet-2014-102582. doi: 10.1136/jmedgenet-2014-102582. [Epub ahead of print]

PMID:
25228304
[PubMed - as supplied by publisher]
Free Article
2.

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

Halford S, Liew G, Mackay DS, Sergouniotis PI, Holt R, Broadgate S, Volpi EV, Ocaka L, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR.

Ophthalmology. 2014 Jun;121(6):1174-84. doi: 10.1016/j.ophtha.2013.11.042. Epub 2014 Jan 28.

PMID:
24480711
[PubMed - indexed for MEDLINE]
3.

Comprehensive cytogenomic profile of the in vitro neuronal model SH-SY5Y.

Yusuf M, Leung K, Morris KJ, Volpi EV.

Neurogenetics. 2013 Feb;14(1):63-70. doi: 10.1007/s10048-012-0350-9. Epub 2012 Dec 9.

PMID:
23224213
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

High-resolution fish on DNA fibers for low-copy repeats genome architecture studies.

Molina O, Blanco J, Anton E, Vidal F, Volpi EV.

Genomics. 2012 Dec;100(6):380-6. doi: 10.1016/j.ygeno.2012.08.007. Epub 2012 Aug 28.

PMID:
22954586
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Combining M-FISH and Quantum Dot technology for fast chromosomal assignment of transgenic insertions.

Yusuf M, Bauer DL, Lipinski DM, MacLaren RE, Wade-Martins R, Mir KU, Volpi EV.

BMC Biotechnol. 2011 Dec 13;11:121. doi: 10.1186/1472-6750-11-121.

PMID:
22165957
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Characterization of a dominant cone degeneration in a green fluorescent protein-reporter mouse with disruption of Loci associated with human dominant retinal dystrophy.

Lipinski DM, Yusuf M, Barnard AR, Damant C, Charbel Issa P, Singh MS, Lee E, Davies WL, Volpi EV, MacLaren RE.

Invest Ophthalmol Vis Sci. 2011 Aug 22;52(9):6617-23. doi: 10.1167/iovs.11-7932.

PMID:
21705682
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Functional human artificial chromosomes are generated and stably maintained in human embryonic stem cells.

Mandegar MA, Moralli D, Khoja S, Cowley S, Chan DY, Yusuf M, Mukherjee S, Blundell MP, Volpi EV, Thrasher AJ, James W, Monaco ZL.

Hum Mol Genet. 2011 Aug 1;20(15):2905-13. doi: 10.1093/hmg/ddr144. Epub 2011 May 18.

PMID:
21593218
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.

Pagnamenta AT, Holt R, Yusuf M, Pinto D, Wing K, Betancur C, Scherer SW, Volpi EV, Monaco AP.

J Neurodev Disord. 2011 Jun;3(2):124-31. doi: 10.1007/s11689-011-9076-5. Epub 2011 Feb 12.

PMID:
21484199
[PubMed]
Free PMC Article
9.

An improved technique for chromosomal analysis of human ES and iPS cells.

Moralli D, Yusuf M, Mandegar MA, Khoja S, Monaco ZL, Volpi EV.

Stem Cell Rev. 2011 Jun;7(2):471-7. doi: 10.1007/s12015-010-9224-4.

PMID:
21188651
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Fluorescence in situ hybridization (FISH) for genomic investigations in rat.

Jefferson A, Volpi EV.

Methods Mol Biol. 2010;659:409-26. doi: 10.1007/978-1-60761-789-1_32.

PMID:
20809331
[PubMed - indexed for MEDLINE]
11.

Altered intra-nuclear organisation of heterochromatin and genes in ICF syndrome.

Jefferson A, Colella S, Moralli D, Wilson N, Yusuf M, Gimelli G, Ragoussis J, Volpi EV.

PLoS One. 2010 Jun 29;5(6):e11364. doi: 10.1371/journal.pone.0011364.

PMID:
20613881
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.

Suliman SG, Stanik J, McCulloch LJ, Wilson N, Edghill EL, Misovicova N, Gasperikova D, Sandrikova V, Elliott KS, Barak L, Ellard S, Volpi EV, Klimes I, Gloyn AL.

Diabetes. 2009 Dec;58(12):2954-61. doi: 10.2337/db09-0787. Epub 2009 Aug 31.

PMID:
19720790
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.

Sykes NH, Toma C, Wilson N, Volpi EV, Sousa I, Pagnamenta AT, Tancredi R, Battaglia A, Maestrini E, Bailey AJ, Monaco AP; International Molecular Genetic Study of Autism Consortium (IMGSAC).

Eur J Hum Genet. 2009 Oct;17(10):1347-53. doi: 10.1038/ejhg.2009.47. Epub 2009 Apr 22.

PMID:
19384346
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

HAC stability in murine cells is influenced by nuclear localization and chromatin organization.

Moralli D, Chan DY, Jefferson A, Volpi EV, Monaco ZL.

BMC Cell Biol. 2009 Mar 6;10:18. doi: 10.1186/1471-2121-10-18.

PMID:
19267891
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.

Newbury DF, Warburton PC, Wilson N, Bacchelli E, Carone S; International Molecular Genetic Study of Autism Consortium, Lamb JA, Maestrini E, Volpi EV, Mohammed S, Baird G, Monaco AP.

Am J Med Genet A. 2009 Feb 15;149A(4):588-97. doi: 10.1002/ajmg.a.32704.

PMID:
19267418
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

FISH glossary: an overview of the fluorescence in situ hybridization technique.

Volpi EV, Bridger JM.

Biotechniques. 2008 Oct;45(4):385-6, 388, 390 passim. doi: 10.2144/000112811. Review.

PMID:
18855767
[PubMed - indexed for MEDLINE]
Free Article
17.

Replication profile of PCDH11X and PCDH11Y, a gene pair located in the non-pseudoautosomal homologous region Xq21.3/Yp11.2.

Wilson ND, Ross LJ, Close J, Mott R, Crow TJ, Volpi EV.

Chromosome Res. 2007;15(4):485-98. Epub 2007 May 29.

PMID:
17671842
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

PCDH11 is X/Y homologous in Homo sapiens but not in Gorilla gorilla and Pan troglodytes.

Wilson ND, Ross LJ, Crow TJ, Volpi EV.

Cytogenet Genome Res. 2006;114(2):137-9.

PMID:
16825765
[PubMed - indexed for MEDLINE]
19.

Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region.

Davies SJ, Wise C, Venkatesh B, Mirza G, Jefferson A, Volpi EV, Ragoussis J.

Cytogenet Genome Res. 2004;105(1):47-53.

PMID:
15218257
[PubMed - indexed for MEDLINE]
20.

Cohesion, but not too close.

Volpi EV, Sheer D, Uhlmann F.

Curr Biol. 2001 May 15;11(10):R378. No abstract available.

PMID:
11378398
[PubMed - indexed for MEDLINE]
Free Article

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