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Items: 19

1.

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.

French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H; NIHR BioResource—Rare Disease; Next Generation Children Project, Rowitch DH, Raymond FL.

Intensive Care Med. 2019 May;45(5):627-636. doi: 10.1007/s00134-019-05552-x. Epub 2019 Mar 7.

2.

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.

Sanchis-Juan A, Stephens J, French CE, Gleadall N, Mégy K, Penkett C, Shamardina O, Stirrups K, Delon I, Dewhurst E, Dolling H, Erwood M, Grozeva D, Stefanucci L, Arno G, Webster AR, Cole T, Austin T, Branco RG, Ouwehand WH, Raymond FL, Carss KJ.

Genome Med. 2018 Dec 7;10(1):95. doi: 10.1186/s13073-018-0606-6.

3.

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.

Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjørnstad A, Henneke L, Gärtner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW.

Am J Hum Genet. 2018 Oct 4;103(4):592-601. doi: 10.1016/j.ajhg.2018.08.013. Epub 2018 Sep 20.

4.

Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

Hague J, Delon I, Brugger K, Martin H, Sparnon L, Simonic I, Abbs S, Park SM.

Am J Med Genet A. 2017 Jul;173(7):1931-1935. doi: 10.1002/ajmg.a.38261. Epub 2017 May 12.

PMID:
28497491
5.

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.

Hague J, Delon I, Brugger K, Martin H, Abbs S, Park SM.

Am J Med Genet A. 2016 Jun;170(6):1608-12. doi: 10.1002/ajmg.a.37631. Epub 2016 Mar 21.

PMID:
26996280
6.

Closing the tau loop: the missing tau mutation.

McCarthy A, Lonergan R, Olszewska DA, O'Dowd S, Cummins G, Magennis B, Fallon EM, Pender N, Huey ED, Cosentino S, O'Rourke K, Kelly BD, O'Connell M, Delon I, Farrell M, Spillantini MG, Rowland LP, Fahn S, Craig P, Hutton M, Lynch T.

Brain. 2015 Oct;138(Pt 10):3100-9. doi: 10.1093/brain/awv234. Epub 2015 Aug 21.

7.

Malignant peripheral nerve sheath tumor in cowden syndrome: a first report.

Taylor A, Delon I, Allinson K, Trotman J, Liu H, Abbs S, Tischkowitz M.

J Neuropathol Exp Neurol. 2015 Apr;74(4):288-92. doi: 10.1097/NEN.0000000000000178.

PMID:
25756585
8.

A germline mosaic BRCA1 exon deletion in a woman with bilateral basal-like breast cancer.

Delon I, Taylor A, Molenda A, Drummond J, Oakhill K, Girling A, Liu H, Whittaker J, Treacy R, Tischkowitz M.

Clin Genet. 2013 Sep;84(3):297-9. doi: 10.1111/cge.12057. Epub 2012 Dec 6. No abstract available.

PMID:
23216102
9.

Downstream of identity genes: muscle-type-specific regulation of the fusion process.

Bataillé L, Delon I, Da Ponte JP, Brown NH, Jagla K.

Dev Cell. 2010 Aug 17;19(2):317-28. doi: 10.1016/j.devcel.2010.07.008.

10.

The integrin adhesion complex changes its composition and function during morphogenesis of an epithelium.

Delon I, Brown NH.

J Cell Sci. 2009 Dec 1;122(Pt 23):4363-74. doi: 10.1242/jcs.055996. Epub 2009 Nov 10.

11.

Cell-matrix adhesion: the Wech connection.

Delon I, Brown N.

Curr Biol. 2008 May 6;18(9):R389-91. doi: 10.1016/j.cub.2008.03.047.

12.

Morphological evolution through multiple cis-regulatory mutations at a single gene.

McGregor AP, Orgogozo V, Delon I, Zanet J, Srinivasan DG, Payre F, Stern DL.

Nature. 2007 Aug 2;448(7153):587-90. Epub 2007 Jul 15.

PMID:
17632547
13.

Integrins and the actin cytoskeleton.

Delon I, Brown NH.

Curr Opin Cell Biol. 2007 Feb;19(1):43-50. Epub 2006 Dec 20. Review.

PMID:
17184985
14.

Evolution of larval morphology in flies: get in shape with shavenbaby.

Delon I, Payre F.

Trends Genet. 2004 Jul;20(7):305-13. Review. No abstract available. Erratum in: Trends Genet. 2005 Jan;21(1):36.

PMID:
15219395
15.

Regulatory evolution of shavenbaby/ovo underlies multiple cases of morphological parallelism.

Sucena E, Delon I, Jones I, Payre F, Stern DL.

Nature. 2003 Aug 21;424(6951):935-8.

PMID:
12931187
16.
17.

Dmoesin controls actin-based cell shape and polarity during Drosophila melanogaster oogenesis.

Polesello C, Delon I, Valenti P, Ferrer P, Payre F.

Nat Cell Biol. 2002 Oct;4(10):782-9.

PMID:
12360288
19.

OVO transcription factors function antagonistically in the Drosophila female germline.

Andrews J, Garcia-Estefania D, Delon I, Lü J, Mével-Ninio M, Spierer A, Payre F, Pauli D, Oliver B.

Development. 2000 Feb;127(4):881-92.

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