V. Ruiz-Perez

发表

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

S. Scherer, P. Scambler, W. Reardon, 1998, Nature Genetics.

Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families

C. Farra, N. Yazbeck, V. Ruiz-Perez, 2015, Case reports in genetics.

Mutations in WNT1 cause different forms of bone fragility.

S. Mundlos, K. Garcia, P. Krawitz, 2013, American journal of human genetics.

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

F. Mulero, J. Goodship, J. Caparrós-Martín, 2012, Bone.

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

J. Goodship, H. Peters, H. Blair, 2007, Development.

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

J. Goodship, V. Ruiz-Perez, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

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

T. Strachan, P. Itin, D. Hohl, 1999, Human molecular genetics.

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

P. Lapunzina, R. Letón, N. Vilaboa, 2010, American journal of human genetics.

Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region.

A. Monaco, R. Cox, M. Lathrop, 1998, American journal of human genetics.

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

P. Lapunzina, M. Sanseverino, E. Mattos, 2015, American journal of medical genetics. Part A.

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

Yaofeng Zhao, J. Goodship, Likun Du, 2006, The Journal of experimental medicine.

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.

J. Goodship, P. Lapunzina, H. Peters, 2013, Human molecular genetics.

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

R. Zannolli, J. Goodship, P. Lapunzina, 2009, Human mutation.

Disorganization of chondrocyte columns in the growth plate does not aggravate experimental osteoarthritis in mice

G. Herrero-Beaumont, R. Largo, V. Ruiz-Perez, 2020, Scientific Reports.

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

J. García-Verdugo, P. Lapunzina, E. Ostergaard, 2014, American journal of medical genetics. Part A.

Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta

P. Lapunzina, E. Guillén-Navarro, A. Utkus, 2014, American journal of medical genetics. Part A.

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

P. Lapunzina, D. Eyre, J. Caparrós-Martín, 2012, Human mutation.

Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.

P. Lapunzina, J. Nevado, F. Garcia-Gonzalo, 2022, American journal of human genetics.

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

M. Digilio, P. Lapunzina, M. Tartaglia, 2020, Human mutation.

Prt1, an unusual retrotransposon-like sequence in the fungus Phycomyces blakesleeanus

F. Murillo, V. Ruiz-Perez, S. Torres-Mart´nez, 1996, Molecular and General Genetics MGG.

BMP1 Mutations in Autosomal Recessive Osteogenesis Imperfecta

P. Lapunzina, J. Caparrós-Martín, S. Temtamy, 2014 .

Blocking chondrocyte hypertrophy in conditional Evc knockout mice does not modify cartilage damage in osteoarthritis

G. Herrero-Beaumont, R. Largo, S. Portal-Nuñez, 2022, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Blocking chondrocyte hypertrophy in conditional Evc knockout mice does not modify osteoarthritis progression

G. Herrero-Beaumont, R. Largo, S. Portal-Nuñez, 2021, bioRxiv.

Mutations in PLOD2 cause autosomal‐recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum

P. Lapunzina, K. Amr, J. Caparrós-Martín, 2012, Human mutation.

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

S. Torres-Martínez, V. Ruiz-Perez, E. Navarro, 2000, European journal of biochemistry.

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.

K. Tarte, K. Devriendt, B. Gener, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

Pablo I Alarcón, P. Lapunzina, J. Nevado, 2018, Clinical genetics.

A New Overgrowth Syndrome is due to Mutations in RNF125

J. Dopazo, D. Montaner, E. López-Granados, 2014, Human mutation.

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.

G. Pals, Q. Waisfisz, H. Meijers-Heijboer, 2020, American journal of human genetics.

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

N. Craddock, M. O’Donovan, A. Monaco, 1999, Nature Genetics.

Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.

P. Scambler, W. Reardon, R. Winter, 2000, American journal of human genetics.

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

J. Riancho, P. Lapunzina, J. Argente, 2017, American journal of medical genetics. Part A.

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

D. Nelson, G. Herrero-Beaumont, C. Hawkins, 2019, Nature Communications.

immunoglobulin class switch recombination and somatic hypermutation

Yaofeng Zhao, J. Goodship, Likun Du, 2006 .

Mutations in VH 3-23C γ transcripts from PBL from ATRD patients

Yaofeng Zhao, J. Goodship, Likun Du, 2022 .

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

M. Burmeister, H. Kayserili, P. Lapunzina, 2017, Human molecular genetics.

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.

M. Digilio, J. Goodship, P. Lapunzina, 2015, Human molecular genetics.

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Susan S. Taylor, I. Scheffer, G. Mortier, 2020, American journal of human genetics.

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

M. Polymeropoulos, T. Meitinger, T. Strom, 2000, Nature Genetics.

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

N. Brunetti‐Pierri, T. Mazza, M. Digilio, 2023, European Journal of Human Genetics.

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

M. Digilio, B. Dallapiccola, A. Bruselles, 2018, Clinical genetics.

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

P. Lapunzina, L. D. Campos-Acevedo, M. Ibarra-Ramírez, 2017, The American journal of case reports.

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.

Mónica Mártinez-García, M. Trujillo-Tiebas, M. Fenollar-Cortés, 2012, Gene.

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

C. Ponting, J. Goodship, H. Blair, 2011, BMC Biology.

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

J. Goodship, P. Lapunzina, G. Cocchi, 2008, Human mutation.

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

J. Goodship, M. Wright, H. Blair, 2006, Human Genetics.

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

J. Goodship, P. Lapunzina, B. Hamel, 2003, American journal of human genetics.

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

J. Goodship, M. Wright, S. Tompson, 2001, Journal of medical genetics.

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

Judith A. Goodship, Penny A. Jeggo, C. Geoffrey Woods, 2003, Nature Genetics.

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

A. Munnich, P. Lapunzina, V. Cormier-Daire, 2018, Journal of Medical Genetics.

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

Sixto García-Miñaur, Sally Ann Lynch, Göran Annerén, 2011, American journal of human genetics.

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

E. Aller, H. Kayserili, P. Lapunzina, 2020, Human mutation.

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

P. Lapunzina, F. Santos-Simarro, K. Ibáñez, 2018, Genetics in Medicine.

A PKA Inhibitor Motif within Smoothened Controls Hedgehog Signal Transduction

Susan S. Taylor, Benjamin R. Myers, G. Veglia, 2021, bioRxiv.

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

P. Lapunzina, J. Nevado, E. Vallespín, 2016, Molecular genetics & genomic medicine.

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Miguel Ángel Martínez, N. Rahman, Pablo I Alarcón, 2019, European Journal of Human Genetics.

mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review

P. Lapunzina, F. Santos-Simarro, K. Ibáñez, 2018, Clinical genetics.

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

F. Turci, C. Royall, S. Temtamy, 2021, Bone Research.

Evc Regulates a Symmetrical Response to Shh Signaling in Molar Development

J. Goodship, M. Nakatomi, H. Peters, 2013, Journal of dental research.

PkpA, a novel Phycomyces blakesleeanus serine/threonine protein kinase

F. Murillo, V. Ruiz-Perez, S. Torres-Martínez, 1995, Current Genetics.

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

C. Farra, P. Lapunzina, K. Amr, 2013, American journal of medical genetics. Part A.

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

S. Efthymiou, F. Rahman, R. Maroofian, 2022, Journal of medical genetics.

Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

D. Horn, P. Lapunzina, Nadja Ehmke, 2021, Genetics in Medicine.

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

P. Lapunzina, F. Santos-Simarro, K. Ibáñez, 2017, bioRxiv.

A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies

S. Mundlos, P. Lapunzina, F. Santos-Simarro, 2022, American journal of medical genetics. Part A.

EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO

Juan J. Cerrolaza, G. Marfany, F. Garcia-Gonzalo, 2023, Frontiers in cell and developmental biology.

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

D. Nelson, G. Herrero-Beaumont, C. Hawkins, 2019, Nature Communications.

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

M. Polymeropoulos, T. Meitinger, T. Strom, 2000, Nature Genetics.