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Browsing publications by Dr Victor Ruiz-Perez

Newcastle AuthorsTitleYearFull text
Dr Brian Wilson
Dr Victor Ruiz-Perez
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR22020
Dr Mitsushiro Nakatomi
Dr Helen Blair
Katie MacArthur
Dr Victor Ruiz-Perez
Professor Judith Goodship
et al.		Evc regulates a symmetrical response to Shh signaling in molar development2013
Dr Heiko Peters
Professor Judith Goodship
Dr Victor Ruiz-Perez
The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia2013
Professor Judith Goodship
Dr Victor Ruiz-Perez
Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base2012
Dr Helen Blair
Dr Stuart Tompson
Yu-Ning Liu
Dr Jennifer Campbell
Katie MacArthur
et al.		Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus2011
Dr Victor Ruiz-Perez
Professor Judith Goodship
Ellis-van Creveld Syndrome and Weyers Acrodental Dysostosis Are Caused by Cilia-Mediated Diminished Response to Hedgehog Ligands2009
Professor Judith Goodship
Dr Victor Ruiz-Perez
Widening the Mutation Spectrum of EVC and EVC2: Ectopic Expression of Weyer Variants in NIH 3T3 Fibroblasts Disrupts Hedgehog Signaling2009
Professor Judith Goodship
Dr Victor Ruiz-Perez
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in ellis-van Creveld syndrome with borderline intelligence2008
Dr Victor Ruiz-Perez
Dr Helen Blair
Dr Colin Miles
Dr Heiko Peters
Professor Judith Goodship
Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia2007
Dr Stuart Tompson
Dr Victor Ruiz-Perez
Dr Helen Blair
Dr Michael Wright
Professor Judith Goodship
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients2007
Dr Victor Ruiz-Perez
Professor Judith Goodship
Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation2006
Dr Victor Ruiz-Perez
Professor Judith Goodship
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome2003
Dr Victor Ruiz-Perez
Dr Stuart Tompson
Dr Helen Blair
Dr Michael Wright
Professor Judith Goodship
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome2003
Dr Stuart Tompson
Dr Victor Ruiz-Perez
Professor Judith Goodship
Ellis- van Creveld: A genetically heterogenous syndrome?2002
Dr Donna Hagan
Alison Ross
Professor Tom Strachan
Dr Sally Lynch
Dr Victor Ruiz-Perez
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene2000
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