M. Teresa-Rodrigo

发表

Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.

B. Puisac, M. Teresa-Rodrigo, M. Arnedo, 2013, Molecular genetics and metabolism.

Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

B. Puisac, M. Teresa-Rodrigo, M. Arnedo, 2012, BMC Medical Genetics.

Could a patient with SMC1A duplication be classified as a human cohesinopathy?

B. Puisac, M. Teresa-Rodrigo, M. Gil-Rodríguez, 2014, Clinical genetics.

Special cases in Cornelia de Lange syndrome: The Spanish experience

B. Puisac, M. Teresa-Rodrigo, M. Gil-Rodríguez, 2016, American journal of medical genetics. Part C, Seminars in medical genetics.

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

L. Armengol, B. Puisac, M. Teresa-Rodrigo, 2014, European journal of medical genetics.

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes

J. Ganesh, I. Krantz, H. Hakonarson, 2015, Human mutation.

Lange Syndrome-overlapping phenotypes

J. Ganesh, H. Hakonarson, Yiran Guo, 2014 .

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

P. Lapunzina, F. Santos-Simarro, B. Puisac, 2014, International journal of molecular sciences.

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

T. Strom, D. Wieczorek, E. Watrin, 2017, Human Genetics.

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

D. Wieczorek, B. Puisac, M. Teresa-Rodrigo, 2016, BioMed research international.

mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome

B. Puisac, M. Teresa-Rodrigo, M. Gil-Rodríguez, 2017, International journal of molecular sciences.

Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway

J. Wesselink, B. Puisac, M. Teresa-Rodrigo, 2012, Molecular Biology Reports.

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

T. Strom, B. Gener, T. Schwarzmayr, 2014, Clinical genetics.

Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol

B. Puisac, M. Teresa-Rodrigo, M. Arnedo, 2012, Journal of Lipid Research.

New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.

B. Puisac, M. Teresa-Rodrigo, M. Arnedo, 2013, European journal of medical genetics.