List of works - Victor L Ruiz-Perez

3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease

scientific article published on 31 August 2021

A new overgrowth syndrome is due to mutations in RNF125.

scientific article published in December 2014

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

scientific article (publication date: April 2003)

ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class

scientific article published in September 1999

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

scientific article

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

scientific article published on 15 February 2018

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

scientific article

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

article

Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults

scientific article published on 11 January 2016

Common atrium/atrioventricular canal defect and postaxial polydactyly: a mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene

scientific article published on 09 September 2020

Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation

scientific article published on 3 January 2006

Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families.

scientific article published on 30 April 2015

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

scientific article

Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings

scientific article published on 3 March 2012

Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4.

scientific article published in June 2001

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia

scientific journal article

Evc regulates a symmetrical response to Shh signaling in molar development.

scientific article published on 11 January 2013

Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base

scientific article published on 31 August 2011

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

scientific article

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

scientific article published on 22 January 2018

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.

scientific article published on 26 August 2017

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

scientific article published on 06 November 2019

Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

scientific article

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

scientific article

Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.

scientific article published on 25 April 2015

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.

scientific article published in July 2008

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations

article

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

scientific article

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

scientific article published on 20 December 2016

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

scientific article published on 5 July 2012

Mutations in WNT1 cause different forms of bone fragility

scientific article

Overexpression of the crgA gene abolishes light requirement for carotenoid biosynthesis in Mucor circinelloides.

scientific article published on February 2000

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome

scientific article published on 12 December 2017

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

scientific article published in Nature Communications

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

scientific article published on 19 March 2014

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

scientific article published on 21 September 2006

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

scientific article

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 cilia

scientific article published in October 2012

Two mutations inIFITM5causing distinct forms of osteogenesis imperfecta

scientific article published on 29 January 2014

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

scientific article published on December 2009

mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.

scientific article published on 11 September 2017

List of works by Victor L Ruiz-Perez

3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease

A new overgrowth syndrome is due to mutations in RNF125.

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults

Common atrium/atrioventricular canal defect and postaxial polydactyly: a mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene

Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation

Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families.

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings

Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4.

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia

Evc regulates a symmetrical response to Shh signaling in molar development.

Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

Mutations in WNT1 cause different forms of bone fragility

Overexpression of the crgA gene abolishes light requirement for carotenoid biosynthesis in Mucor circinelloides.

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

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 cilia

Two mutations inIFITM5causing distinct forms of osteogenesis imperfecta

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.