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Items: 16

1.

Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse.

Lee KKL, Peskett E, Quinn CM, Aiello R, Adeeva L, Moulding DA, Stanier P, Pauws E.

Dis Model Mech. 2018 Sep 28. pii: dmm.035311. doi: 10.1242/dmm.035311. [Epub ahead of print]

2.

Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.

Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, Marrero-Gagliardi A, Stewart M, Mianne J, Corrochano S, Emmett W, Codner G, Groves M, Fukumura R, Gondo Y, Lythgoe M, Pauws E, Peskett E, Stanier P, Teboul L, Hallegger M, Calvo A, Chiò A, Isaacs AM, Fawzi NL, Wang E, Housman DE, Baralle F, Greensmith L, Buratti E, Plagnol V, Fisher EM, Acevedo-Arozena A.

EMBO J. 2018 Jun 1;37(11). pii: e98684. doi: 10.15252/embj.201798684. Epub 2018 May 15.

3.

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.

Bryant D, Liu Y, Datta S, Hariri H, Seda M, Anderson G, Peskett E, Demetriou C, Sousa S, Jenkins D, Clayton P, Bitner-Glindzicz M, Moore GE, Henne WM, Stanier P.

Hum Mol Genet. 2018 Jun 1;27(11):1927-1940. doi: 10.1093/hmg/ddy101.

PMID:
29635513
4.

Genetic Analyses in Small-for-Gestational-Age Newborns.

Stalman SE, Solanky N, Ishida M, Alemán-Charlet C, Abu-Amero S, Alders M, Alvizi L, Baird W, Demetriou C, Henneman P, James C, Knegt LC, Leon LJ, Mannens MMAM, Mul AN, Nibbering NA, Peskett E, Rezwan FI, Ris-Stalpers C, van der Post JAM, Kamp GA, Plötz FB, Wit JM, Stanier P, Moore GE, Hennekam RC.

J Clin Endocrinol Metab. 2018 Mar 1;103(3):917-925. doi: 10.1210/jc.2017-01843.

PMID:
29342293
5.

Analysis of the Fgfr2C342Y mouse model shows condensation defects due to misregulation of Sox9 expression in prechondrocytic mesenchyme.

Peskett E, Kumar S, Baird W, Jaiswal J, Li M, Patel P, Britto JA, Pauws E.

Biol Open. 2017 Feb 15;6(2):223-231. doi: 10.1242/bio.022178.

6.

Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.

Savastano CP, Brito LA, Faria ÁC, Setó-Salvia N, Peskett E, Musso CM, Alvizi L, Ezquina SA, James C, GOSgene, Beales P, Lees M, Moore GE, Stanier P, Passos-Bueno MR.

Clin Genet. 2017 May;91(5):683-689. doi: 10.1111/cge.12823. Epub 2016 Jul 26.

PMID:
27350171
7.

Investigation of the Annexin A5 M2 haplotype in 500 white European couples who have experienced recurrent spontaneous abortion.

Demetriou C, Abu-Amero S, White S, Peskett E, Markoff A, Stanier P, Moore GE, Regan L.

Reprod Biomed Online. 2015 Nov;31(5):681-8. doi: 10.1016/j.rbmo.2015.07.004. Epub 2015 Jul 17.

8.

Mechanical properties of calvarial bones in a mouse model for craniosynostosis.

Moazen M, Peskett E, Babbs C, Pauws E, Fagan MJ.

PLoS One. 2015 May 12;10(5):e0125757. doi: 10.1371/journal.pone.0125757. eCollection 2015.

9.

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.

Pauws E, Peskett E, Boissin C, Hoshino A, Mengrelis K, Carta E, Abruzzo MA, Lees M, Moore GE, Erickson RP, Stanier P.

Clin Genet. 2013 Apr;83(4):352-8. doi: 10.1111/j.1399-0004.2012.01930.x. Epub 2012 Aug 7.

PMID:
22784330
10.

Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.

Gehmlich K, Syrris P, Peskett E, Evans A, Ehler E, Asimaki A, Anastasakis A, Tsatsopoulou A, Vouliotis AI, Stefanadis C, Saffitz JE, Protonotarios N, McKenna WJ.

Cardiovasc Res. 2011 Apr 1;90(1):77-87. doi: 10.1093/cvr/cvq353. Epub 2010 Nov 9.

11.

Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency.

Bouma G, Doffinger R, Patel SY, Peskett E, Sinclair JC, Barcenas-Morales G, Cerron-Gutierrez L, Kumararatne DS, Davies EG, Thrasher AJ, Burns SO.

Br J Haematol. 2009 Oct;147(1):153-6. doi: 10.1111/j.1365-2141.2009.07838.x. Epub 2009 Aug 5. No abstract available.

PMID:
19663824
12.

Critical role for the p110alpha phosphoinositide-3-OH kinase in growth and metabolic regulation.

Foukas LC, Claret M, Pearce W, Okkenhaug K, Meek S, Peskett E, Sancho S, Smith AJ, Withers DJ, Vanhaesebroeck B.

Nature. 2006 May 18;441(7091):366-70. Epub 2006 Apr 12.

PMID:
16625210
13.

Essential role for the p110delta phosphoinositide 3-kinase in the allergic response.

Ali K, Bilancio A, Thomas M, Pearce W, Gilfillan AM, Tkaczyk C, Kuehn N, Gray A, Giddings J, Peskett E, Fox R, Bruce I, Walker C, Sawyer C, Okkenhaug K, Finan P, Vanhaesebroeck B.

Nature. 2004 Oct 21;431(7011):1007-11.

14.

Impaired B and T cell antigen receptor signaling in p110delta PI 3-kinase mutant mice.

Okkenhaug K, Bilancio A, Farjot G, Priddle H, Sancho S, Peskett E, Pearce W, Meek SE, Salpekar A, Waterfield MD, Smith AJ, Vanhaesebroeck B.

Science. 2002 Aug 9;297(5583):1031-4. Epub 2002 Jul 18.

15.
16.

Hand assessment--a realistic reappraisal.

Peskett EB.

Hand. 1977 Jun;9(2):135-9.

PMID:
914088

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