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Items: 29

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 Nov 9;11(11). pii: dmm035311. doi: 10.1242/dmm.035311.

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.

Predicting calvarial growth in normal and craniosynostotic mice using a computational approach.

Marghoub A, Libby J, Babbs C, Pauws E, Fagan MJ, Moazen M.

J Anat. 2018 Mar;232(3):440-448. doi: 10.1111/joa.12764. Epub 2017 Dec 15.

PMID:
29243252
4.

Characterizing the skull base in craniofacial microsomia using principal component analysis.

Schaal SC, Ruff C, Pluijmers BI, Pauws E, Looman CWN, Koudstaal MJ, Dunaway DJ.

Int J Oral Maxillofac Surg. 2017 Dec;46(12):1656-1663. doi: 10.1016/j.ijom.2017.07.008. Epub 2017 Jul 31.

PMID:
28774693
5.

Sumoylation in Craniofacial Disorders.

Pauws E, Stanier P.

Adv Exp Med Biol. 2017;963:323-335. doi: 10.1007/978-3-319-50044-7_19. Review.

PMID:
28197921
6.

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.

7.

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.

Twigg SR, Forecki J, Goos JA, Richardson IC, Hoogeboom AJ, van den Ouweland AM, Swagemakers SM, Lequin MH, Van Antwerp D, McGowan SJ, Westbury I, Miller KA, Wall SA; WGS500 Consortium, van der Spek PJ, Mathijssen IM, Pauws E, Merzdorf CS, Wilkie AO.

Am J Hum Genet. 2015 Sep 3;97(3):378-88. doi: 10.1016/j.ajhg.2015.07.007.

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.

Bloomsbury report on mouse embryo phenotyping: recommendations from the IMPC workshop on embryonic lethal screening.

Adams D, Baldock R, Bhattacharya S, Copp AJ, Dickinson M, Greene ND, Henkelman M, Justice M, Mohun T, Murray SA, Pauws E, Raess M, Rossant J, Weaver T, West D.

Dis Model Mech. 2013 May;6(3):571-9. doi: 10.1242/dmm.011833. Epub 2013 Mar 18. Erratum in: Dis Model Mech. 2013 Jul;6(4):1049.

10.

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
11.

Development of the lip and palate: FGF signalling.

Stanier P, Pauws E.

Front Oral Biol. 2012;16:71-80. doi: 10.1159/000337618. Epub 2012 Jun 25. Review.

PMID:
22759671
12.

Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate.

Carta E, Pauws E, Thomas AC, Mengrelis K, Moore GE, Lees M, Stanier P.

Birth Defects Res A Clin Mol Teratol. 2012 Jun;94(6):459-63. doi: 10.1002/bdra.23008. Epub 2012 Apr 10.

PMID:
22492558
13.

Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.

Kantaputra PN, Paramee M, Kaewkhampa A, Hoshino A, Lees M, McEntagart M, Masrour N, Moore GE, Pauws E, Stanier P.

J Dent Res. 2011 Apr;90(4):450-5. doi: 10.1177/0022034510391052. Epub 2011 Jan 19.

PMID:
21248356
14.

Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.

Pauws E, Hoshino A, Bentley L, Prajapati S, Keller C, Hammond P, Martinez-Barbera JP, Moore GE, Stanier P.

Hum Mol Genet. 2009 Nov 1;18(21):4171-9. doi: 10.1093/hmg/ddp368. Epub 2009 Jul 31. Erratum in: Hum Mol Genet. 2010 Aug 1;19(15):3103.

15.

A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia.

Pauws E, Moore GE, Stanier P.

J Med Genet. 2009 Aug;46(8):555-61. doi: 10.1136/jmg.2009.066902.

PMID:
19648124
16.

The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice.

Liu W, Lan Y, Pauws E, Meester-Smoor MA, Stanier P, Zwarthoff EC, Jiang R.

Development. 2008 Dec;135(23):3959-68. doi: 10.1242/dev.025304. Epub 2008 Oct 23.

17.

FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate.

Pauws E, Stanier P.

Trends Genet. 2007 Dec;23(12):631-40. Epub 2007 Nov 5. Review.

PMID:
17981355
18.

TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.

Andreou AM, Pauws E, Jones MC, Singh MK, Bussen M, Doudney K, Moore GE, Kispert A, Brosens JJ, Stanier P.

Am J Hum Genet. 2007 Oct;81(4):700-12. Epub 2007 Aug 16.

19.

Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model.

Gustavsson P, Greene ND, Lad D, Pauws E, de Castro SC, Stanier P, Copp AJ.

Hum Mol Genet. 2007 Nov 1;16(21):2640-6. Epub 2007 Aug 24.

PMID:
17720888
20.

A novel homeobox gene overexpressed in thyroid carcinoma.

Pauws E, Sijmons GG, Yaka C, Ris-Stalpers C.

Thyroid. 2004 Jul;14(7):500-5.

PMID:
15307938
21.

Genes differentially expressed in thyroid carcinoma identified by comparison of SAGE expression profiles.

Pauws E, Veenboer GJ, Smit JW, de Vijlder JJ, Morreau H, Ris-Stalpers C.

FASEB J. 2004 Mar;18(3):560-1. Epub 2004 Jan 8.

PMID:
14715705
22.

Up to date with human thyroglobulin.

van de Graaf SA, Ris-Stalpers C, Pauws E, Mendive FM, Targovnik HM, de Vijlder JJ.

J Endocrinol. 2001 Aug;170(2):307-21.

PMID:
11479128
23.

Cloning of tissue-specific genes using serial analysis of gene expression and a novel computational substraction approach.

Moreno JC, Pauws E, van Kampen AH, Jedlicková M, de Vijlder JJ, Ris-Stalpers C.

Genomics. 2001 Jul;75(1-3):70-6.

PMID:
11472069
24.

Absence of activating mutations in ras and gsp oncogenes in a cohort of nine patients with sporadic pediatric thyroid tumors.

Pauws E, Tummers RF, Ris-Stalpers C, de Vijlder JJ, Voûte T.

Med Pediatr Oncol. 2001 Jun;36(6):630-4.

PMID:
11344494
25.

Heterogeneity in polyadenylation cleavage sites in mammalian mRNA sequences: implications for SAGE analysis.

Pauws E, van Kampen AH, van de Graaf SA, de Vijlder JJ, Ris-Stalpers C.

Nucleic Acids Res. 2001 Apr 15;29(8):1690-4.

26.

USAGE: a web-based approach towards the analysis of SAGE data. Serial Analysis of Gene Expression.

van Kampen AH, van Schaik BD, Pauws E, Michiels EM, Ruijter JM, Caron HN, Versteeg R, Heisterkamp SH, Leunissen JA, Baas F, van der Mee M.

Bioinformatics. 2000 Oct;16(10):899-905.

PMID:
11120679
27.

Genes differentially expressed in medulloblastoma and fetal brain.

Michiels EM, Oussoren E, Van Groenigen M, Pauws E, Bossuyt PM, Voûte PA, Baas F.

Physiol Genomics. 1999 Aug 31;1(2):83-91.

PMID:
11015565
28.

Serial analysis of gene expression as a tool to assess the human thyroid expression profile and to identify novel thyroidal genes.

Pauws E, Moreno JC, Tijssen M, Baas F, de Vijlder JJ, Ris-Stalpers C.

J Clin Endocrinol Metab. 2000 May;85(5):1923-7.

PMID:
10843176
29.

The revised 8307 base pair coding sequence of human thyroglobulin transiently expressed in eukaryotic cells.

van de Graaf SA, Pauws E, de Vijlder JJ, Ris-Stalpers CR.

Eur J Endocrinol. 1997 May;136(5):508-15.

PMID:
9186272

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