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Items: 21

1.

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

Ceroni F, Aguilera-Garcia D, Chassaing N, Bax DA, Blanco-Kelly F, Ramos P, Tarilonte M, Villaverde C, da Silva LRJ, Ballesta-Martínez MJ, Sanchez-Soler MJ, Holt RJ, Cooper-Charles L, Bruty J, Wallis Y, McMullan D, Hoffman J, Bunyan D, Stewart A, Stewart H, Lachlan K; DDD Study, Fryer A, McKay V, Roume J, Dureau P, Saggar A, Griffiths M, Calvas P, Ayuso C, Corton M, Ragge NK.

Hum Genet. 2018 Feb 20. doi: 10.1007/s00439-018-1875-2. [Epub ahead of print]

PMID:
29464339
2.

New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders.

Holt R, Ceroni F, Bax DA, Broadgate S, Diaz DG, Santos C, Gerrelli D, Ragge NK.

Sci Rep. 2017 Aug 11;7(1):7975. doi: 10.1038/s41598-017-08397-w.

3.

Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.

Holt R, Ugur Iseri SA, Wyatt AW, Bax DA, Gold Diaz D, Santos C, Broadgate S, Dunn R, Bruty J, Wallis Y, McMullan D, Ogilvie C, Gerrelli D, Zhang Y, Ragge N.

Hum Genet. 2017 Jan;136(1):119-127. doi: 10.1007/s00439-016-1745-8. Epub 2016 Nov 14.

PMID:
27844144
4.

Novel oncogenic PDGFRA mutations in pediatric high-grade gliomas.

Paugh BS, Zhu X, Qu C, Endersby R, Diaz AK, Zhang J, Bax DA, Carvalho D, Reis RM, Onar-Thomas A, Broniscer A, Wetmore C, Zhang J, Jones C, Ellison DW, Baker SJ.

Cancer Res. 2013 Oct 15;73(20):6219-29. doi: 10.1158/0008-5472.CAN-13-1491. Epub 2013 Aug 22.

5.

Histone H3.3. mutations drive pediatric glioblastoma through upregulation of MYCN.

Bjerke L, Mackay A, Nandhabalan M, Burford A, Jury A, Popov S, Bax DA, Carvalho D, Taylor KR, Vinci M, Bajrami I, McGonnell IM, Lord CJ, Reis RM, Hargrave D, Ashworth A, Workman P, Jones C.

Cancer Discov. 2013 May;3(5):512-9.

6.

Mesenchymal transition and PDGFRA amplification/mutation are key distinct oncogenic events in pediatric diffuse intrinsic pontine gliomas.

Puget S, Philippe C, Bax DA, Job B, Varlet P, Junier MP, Andreiuolo F, Carvalho D, Reis R, Guerrini-Rousseau L, Roujeau T, Dessen P, Richon C, Lazar V, Le Teuff G, Sainte-Rose C, Geoerger B, Vassal G, Jones C, Grill J.

PLoS One. 2012;7(2):e30313. doi: 10.1371/journal.pone.0030313. Epub 2012 Feb 28.

7.

Receptor tyrosine kinase genes amplified in glioblastoma exhibit a mutual exclusivity in variable proportions reflective of individual tumor heterogeneity.

Little SE, Popov S, Jury A, Bax DA, Doey L, Al-Sarraj S, Jurgensmeier JM, Jones C.

Cancer Res. 2012 Apr 1;72(7):1614-20. doi: 10.1158/0008-5472.CAN-11-4069. Epub 2012 Feb 6.

8.

Microsatellite instability in pediatric high grade glioma is associated with genomic profile and differential target gene inactivation.

Viana-Pereira M, Lee A, Popov S, Bax DA, Al-Sarraj S, Bridges LR, Stávale JN, Hargrave D, Jones C, Reis RM.

PLoS One. 2011;6(5):e20588. doi: 10.1371/journal.pone.0020588. Epub 2011 May 26.

9.

MGMT-independent temozolomide resistance in pediatric glioblastoma cells associated with a PI3-kinase-mediated HOX/stem cell gene signature.

Gaspar N, Marshall L, Perryman L, Bax DA, Little SE, Viana-Pereira M, Sharp SY, Vassal G, Pearson AD, Reis RM, Hargrave D, Workman P, Jones C.

Cancer Res. 2010 Nov 15;70(22):9243-52. doi: 10.1158/0008-5472.CAN-10-1250. Epub 2010 Oct 8.

10.

A distinct spectrum of copy number aberrations in pediatric high-grade gliomas.

Bax DA, Mackay A, Little SE, Carvalho D, Viana-Pereira M, Tamber N, Grigoriadis AE, Ashworth A, Reis RM, Ellison DW, Al-Sarraj S, Hargrave D, Jones C.

Clin Cancer Res. 2010 Jul 1;16(13):3368-77. doi: 10.1158/1078-0432.CCR-10-0438. Epub 2010 Jun 22.

11.

Integrated molecular genetic profiling of pediatric high-grade gliomas reveals key differences with the adult disease.

Paugh BS, Qu C, Jones C, Liu Z, Adamowicz-Brice M, Zhang J, Bax DA, Coyle B, Barrow J, Hargrave D, Lowe J, Gajjar A, Zhao W, Broniscer A, Ellison DW, Grundy RG, Baker SJ.

J Clin Oncol. 2010 Jun 20;28(18):3061-8. doi: 10.1200/JCO.2009.26.7252. Epub 2010 May 17.

12.

EGFRvIII deletion mutations in pediatric high-grade glioma and response to targeted therapy in pediatric glioma cell lines.

Bax DA, Gaspar N, Little SE, Marshall L, Perryman L, Regairaz M, Viana-Pereira M, Vuononvirta R, Sharp SY, Reis-Filho JS, Stávale JN, Al-Sarraj S, Reis RM, Vassal G, Pearson AD, Hargrave D, Ellison DW, Workman P, Jones C.

Clin Cancer Res. 2009 Sep 15;15(18):5753-61. doi: 10.1158/1078-0432.CCR-08-3210. Epub 2009 Sep 8. Erratum in: Clin Cancer Res. 2009 Nov 15;15(22):7110.

13.

Molecular and phenotypic characterisation of paediatric glioma cell lines as models for preclinical drug development.

Bax DA, Little SE, Gaspar N, Perryman L, Marshall L, Viana-Pereira M, Jones TA, Williams RD, Grigoriadis A, Vassal G, Workman P, Sheer D, Reis RM, Pearson AD, Hargrave D, Jones C.

PLoS One. 2009;4(4):e5209. doi: 10.1371/journal.pone.0005209. Epub 2009 Apr 14.

14.

Endosialin (CD248) is a marker of tumor-associated pericytes in high-grade glioma.

Simonavicius N, Robertson D, Bax DA, Jones C, Huijbers IJ, Isacke CM.

Mod Pathol. 2008 Mar;21(3):308-15. doi: 10.1038/modpathol.3801006. Epub 2008 Jan 11.

15.

Multifaceted dysregulation of the epidermal growth factor receptor pathway in clear cell sarcoma of the kidney.

Little SE, Bax DA, Rodriguez-Pinilla M, Natrajan R, Messahel B, Pritchard-Jones K, Vujanic GM, Reis-Filho JS, Jones C.

Clin Cancer Res. 2007 Aug 1;13(15 Pt 1):4360-4. Epub 2007 Jul 23.

16.

High-grade dysplasia in Barrett's esophagus is associated with increased expression of calgranulin A and B.

Bax DA, Siersema PD, Haringsma J, Kuipers EJ, Vos AJ, Van Dekken H, Van Vliet AH, Kusters JG.

Scand J Gastroenterol. 2007 Aug;42(8):902-10.

PMID:
17613918
17.

Does CDX2 expression predict Barrett's metaplasia in oesophageal columnar epithelium without goblet cells?

Kerkhof M, Bax DA, Moons LM, van Vuuren AJ, van Dekken H, Steyerberg EW, Kuipers EJ, Kusters JG, Siersema PD; Cybar Study Group.

Aliment Pharmacol Ther. 2006 Dec;24(11-12):1613-21.

18.

Molecular alterations during development of esophageal adenocarcinoma.

Bax DA, Siersema PD, Van Vliet AH, Kuipers EJ, Kusters JG.

J Surg Oncol. 2005 Nov 1;92(2):89-98; discussion 99.

PMID:
16231373
19.

MUC4 is increased in high grade intraepithelial neoplasia in Barrett's oesophagus and is associated with a proapoptotic Bax to Bcl-2 ratio.

Bax DA, Haringsma J, Einerhand AW, van Dekken H, Blok P, Siersema PD, Kuipers EJ, Kusters JG.

J Clin Pathol. 2004 Dec;57(12):1267-72.

20.

Role of the rdxA and frxA genes in oxygen-dependent metronidazole resistance of Helicobacter pylori.

Gerrits MM, van der Wouden EJ, Bax DA, van Zwet AA, van Vliet AH, de Jong A, Kusters JG, Thijs JC, Kuipers EJ.

J Med Microbiol. 2004 Nov;53(Pt 11):1123-8.

PMID:
15496391
21.

The homeodomain protein CDX2 is an early marker of Barrett's oesophagus.

Moons LM, Bax DA, Kuipers EJ, Van Dekken H, Haringsma J, Van Vliet AH, Siersema PD, Kusters JG.

J Clin Pathol. 2004 Oct;57(10):1063-8.

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