María Valencia

发表

Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families

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

OSX/SP7 mutations and osteogenesis imperfecta

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

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.

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.

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.

BMP1 Mutations in Autosomal Recessive Osteogenesis Imperfecta

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

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.

A New Overgrowth Syndrome is due to Mutations in RNF125

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

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.

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.

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.

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.