Publications by authors named "Maria C Gil-Rodriguez"

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Comparison of several Real-Time PCR Kits versus a Culture-dependent Algorithm to Identify Enteropathogens in Stool Samples.
Silvia Valledor, Inés Valledor, María Concepción Gil-Rodríguez, Cristina Seral, Javier Castillo

Sci Rep· March 2020

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Two-step ATP-driven opening of cohesin head.
Íñigo Marcos-Alcalde, Jesús I Mendieta-Moreno, Beatriz Puisac, María Concepción Gil-Rodríguez, María Hernández-Marcos

Sci Rep· June 2017

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Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
María E Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, Jelena Pozojevic, Ilaria Parenti

Biomed Res Int· December 2016

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Species diversity of the genus Osmundea (Ceramiales, Rhodophyta) in the Macaronesian region.
María Machín-Sánchez, Florence Rousseau, Line Le Gall, Valéria Cassano, Ana I Neto

J Phycol· August 2016

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De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
María Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, Christopher A Tan, Ilaria Parenti

Hum Mutat· April 2015

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Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.
María E Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, Andreas Dalski, María C Gil-Rodríguez

Int J Mol Sci· June 2014

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CE-MS fingerprinting of Laurencia complex algae (Rhodophyta).
María Machín-Sánchez, María Asensio-Ramos, Javier Hernández-Borges, María Candelaria Gil-Rodríguez

J Sep Sci· March 2014

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New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.
Mónica Ramos, Sebastián Menao, María Arnedo, Beatriz Puisac, María Concepción Gil-Rodríguez

Eur J Med Genet· August 2013

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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.
Beatriz Puisac, María Esperanza Teresa-Rodrigo, María Arnedo, María Concepción Gil-Rodríguez, Celia Pérez-Cerdá

Mol Genet Metab· April 2013

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Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol.
María Arnedo, Sebastián Menao, Beatriz Puisac, María E Teresa-Rodrigo, María C Gil-Rodríguez

J Lipid Res· October 2012

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RAD21 mutations cause a human cohesinopathy.
Matthew A Deardorff, Jonathan J Wilde, Melanie Albrecht, Emma Dickinson, Stephanie Tennstedt

Am J Hum Genet· June 2012

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Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual.
Jolanta Wierzba, María Concepción Gil-Rodríguez, Anna Polucha, Beatriz Puisac, María Arnedo

BMC Med Genet· June 2012

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Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
Beatriz Puisac, Mónica Ramos, María Arnedo, Sebastián Menao, María Concepción Gil-Rodríguez

Mol Biol Rep· April 2012

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Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Diana Braunholz, Melanie Hullings, María Concepcion Gil-Rodríguez, Christopher T Fincher, Mark B Mallozzi

Eur J Hum Genet· March 2012

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Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
Juan Pié, María Concepción Gil-Rodríguez, Milagros Ciero, Eduardo López-Viñas, María Pilar Ribate

Am J Med Genet A· April 2010

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Synchroma grande spec. nov. (Synchromophyceae class. nov., Heterokontophyta): an amoeboid marine alga with unique plastid complexes.
Susanne Horn, Katrin Ehlers, Guido Fritzsch, María Candelaria Gil-Rodríguez, Christian Wilhelm

Protist· July 2007

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