A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis
Benito-Sanz, Sara, Thomas, N. Simon, Huber, Céline, del Blanco, Darya Gorbenko, Aza-Carmona, Miriam, Crolla, John A., Maloney, Vivienne, Argente, Jesús, Campos-Barros, Ángel, Cormier-Daire, Valérie, Heath, Karen E.
Published in American journal of human genetics (01.10.2005)
Published in American journal of human genetics (01.10.2005)
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Redox stress in Marfan syndrome: Dissecting the role of the NADPH oxidase NOX4 in aortic aneurysm
Jiménez-Altayó, Francesc, Meirelles, Thayna, Crosas-Molist, Eva, Sorolla, M. Alba, del Blanco, Darya Gorbenko, López-Luque, Judit, Mas-Stachurska, Aleksandra, Siegert, Ana-Maria, Bonorino, Fabio, Barberà, Laura, García, Carolina, Condom, Enric, Sitges, Marta, Rodríguez-Pascual, Fernando, Laurindo, Francisco, Schröder, Katrin, Ros, Joaquim, Fabregat, Isabel, Egea, Gustavo
Published in Free radical biology & medicine (01.04.2018)
Published in Free radical biology & medicine (01.04.2018)
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Early Impairment of Lung Mechanics in a Murine Model of Marfan Syndrome
Uriarte, Juan J, Meirelles, Thayna, Gorbenko Del Blanco, Darya, Nonaka, Paula N, Campillo, Noelia, Sarri, Elisabet, Navajas, Daniel, Egea, Gustavo, Farré, Ramon
Published in PloS one (22.03.2016)
Published in PloS one (22.03.2016)
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Cardiovascular Benefits of Moderate Exercise Training in Marfan Syndrome: Insights From an Animal Model
Mas‐Stachurska, Aleksandra, Siegert, Anna‐Maria, Batlle, Monsterrat, Gorbenko del Blanco, Darya, Meirelles, Thayna, Rubies, Cira, Bonorino, Fabio, Serra‐Peinado, Carla, Bijnens, Bart, Baudin, Julio, Sitges, Marta, Mont, Lluís, Guasch, Eduard, Egea, Gustavo
Published in Journal of the American Heart Association (01.09.2017)
Published in Journal of the American Heart Association (01.09.2017)
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NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development
Aza-Carmona, Miriam, Barca-Tierno, Veronica, Hisado-Oliva, Alfonso, Belinchón, Alberta, Gorbenko-del Blanco, Darya, Rodriguez, Jose Ignacio, Benito-Sanz, Sara, Campos-Barros, Angel, Heath, Karen E
Published in PloS one (08.01.2014)
Published in PloS one (08.01.2014)
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Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency
Blanco, Darya Gorbenko del, de Graaff, Laura C. G., Visser, Theo J., Hokken-Koelega, Anita C. S.
Published in Clinical endocrinology (Oxford) (01.03.2013)
Published in Clinical endocrinology (Oxford) (01.03.2013)
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PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands
Benito-Sanz, Sara, Gorbenko Del Blanco, Darya, Aza-Carmona, Miriam, Magano, Luis F., Lapunzina, Pablo, Argente, Jesús, Campos-Barros, Ángel, Heath, Karen E.
Published in Human mutation (01.10.2006)
Published in Human mutation (01.10.2006)
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Vascular smooth muscle cell phenotypic changes in patients with Marfan syndrome
Crosas-Molist, Eva, Meirelles, Thayna, López-Luque, Judit, Serra-Peinado, Carla, Selva, Javier, Caja, Laia, Gorbenko Del Blanco, Darya, Uriarte, Juan José, Bertran, Esther, Mendizábal, Yolanda, Hernández, Vanessa, García-Calero, Carolina, Busnadiego, Oscar, Condom, Enric, Toral, David, Castellà, Manel, Forteza, Alberto, Navajas, Daniel, Sarri, Elisabet, Rodríguez-Pascual, Fernando, Dietz, Harry C, Fabregat, Isabel, Egea, Gustavo
Published in Arteriosclerosis, thrombosis, and vascular biology (01.04.2015)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.04.2015)
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Characterization of SHOX Deletions in Léri-Weill Dyschondrosteosis (LWD) Reveals Genetic Heterogeneity and No Recombination Hotspots
Benito-Sanz, Sara, Gorbenko del Blanco, Darya, Huber, Céline, Thomas, N. Simon, Aza-Carmona, Miriam, Bunyan, David, Maloney, Vivienne, Argente, Jesús, Cormier-Daire, Valérie, Campos-Barros, Ángel, Heath, Karen E.
Published in American journal of human genetics (01.08.2006)
Published in American journal of human genetics (01.08.2006)
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The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways
García, Marta, Barrio, Raquel, García-Lavandeira, Montserrat, Garcia-Rendueles, Angela R, Escudero, Adela, Díaz-Rodríguez, Esther, Gorbenko Del Blanco, Darya, Fernández, Ana, de Rijke, Yolanda B, Vallespín, Elena, Nevado, Julián, Lapunzina, Pablo, Matre, Vilborg, Hinkle, Patricia M, Hokken-Koelega, Anita C S, de Miguel, María P, Cameselle-Teijeiro, José Manuel, Nistal, Manuel, Alvarez, Clara V, Moreno, José C
Published in Scientific reports (06.03.2017)
Published in Scientific reports (06.03.2017)
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A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve
Gorbenko Del Blanco, Darya, Romero, Christopher J, Diaczok, Daniel, de Graaff, Laura C G, Radovick, Sally, Hokken-Koelega, Anita C S
Published in European journal of endocrinology (01.09.2012)
Published in European journal of endocrinology (01.09.2012)
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Growth hormone insensitivity syndrome caused by a heterozygous GHR mutation: phenotypic variability owing to moderation by nonsense-mediated decay
del Blanco, Darya Gorbenko, de Graaff, Laura C. G., Visser, Theo J., Hokken-Koelega, Anita C. S.
Published in Clinical endocrinology (Oxford) (01.05.2012)
Published in Clinical endocrinology (Oxford) (01.05.2012)
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Elastin-Like Recombinamer Hydrogels for Improved Skeletal Muscle Healing Through Modulation of Macrophage Polarization
Ibáñez-Fonseca, Arturo, Santiago Maniega, Silvia, Gorbenko Del Blanco, Darya, Catalán Bernardos, Benedicta, Vega Castrillo, Aurelio, Álvarez Barcia, Ángel José, Alonso, Matilde, Aguado, Héctor J, Rodríguez-Cabello, José Carlos
Published in Frontiers in bioengineering and biotechnology (14.05.2020)
Published in Frontiers in bioengineering and biotechnology (14.05.2020)
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Journal Article
PAR1 deletions downstream ofSHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands
Benito-Sanz, Sara, Gorbenko Del Blanco, Darya, Aza-Carmona, Miriam, Magano, Luis F., Lapunzina, Pablo, Argente, Jesús, Campos-Barros, Ángel, Heath, Karen E.
Published in Human mutation (01.10.2006)
Published in Human mutation (01.10.2006)
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A FBN1 3′UTR mutation variant is associated with endoplasmic reticulum stress in aortic aneurysm in Marfan syndrome
Siegert, Anna-Maria, García Díaz-Barriga, Gerardo, Esteve-Codina, Anna, Navas-Madroñal, Miquel, Gorbenko del Blanco, Darya, Alberch, Jordi, Heath, Simon, Galán, María, Egea, Gustavo
Published in Biochimica et biophysica acta. Molecular basis of disease (01.01.2019)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.01.2019)
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The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGF[beta] and Activin pathways
García, Marta, Barrio, Raquel, García-lavandeira, Montserrat, Garcia-rendueles, Angela R, Escudero, Adela, Díaz-rodríguez, Esther, Gorbenko Del Blanco, Darya, Fernández, Ana, De Rijke, Yolanda B, Vallespín, Elena, Nevado, Julián, Lapunzina, Pablo, Matre, Vilborg, Hinkle, Patricia M, Hokken-koelega, Anita C S, De Miguel, María P, Cameselle-teijeiro, José Manuel, Nistal, Manuel, Alvarez, Clara V, Moreno, José C
Published in Scientific reports (01.03.2017)
Published in Scientific reports (01.03.2017)
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Increased upper airway collapsibility in a mouse model of Marfan syndrome
da Palma, Renata Kelly, Farré, Ramon, Montserrat, Josep Maria, Gorbenko Del Blanco, Darya, Egea, Gustavo, de Oliveira, Luís Vicente Franco, Navajas, Daniel, Almendros, Isaac
Published in Respiratory physiology & neurobiology (01.02.2015)
Published in Respiratory physiology & neurobiology (01.02.2015)
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A FBN1 3'UTR mutation variant is associated with endoplasmic reticulum stress in aortic aneurysm in Marfan syndrome
Siegert, Anna-Maria, García Díaz-Barriga, Gerardo, Esteve-Codina, Anna, Navas-Madroñal, Miquel, Gorbenko Del Blanco, Darya, Alberch, Jordi, Heath, Simon, Galán, María, Egea, Gustavo
Published in Biochimica et biophysica acta. Molecular basis of disease (01.01.2019)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.01.2019)
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Journal Article
Cardiovascular benefits of moderate exercise training in Marfan syndrome: insights from an animal model
Mas‐Stachurska, Aleksandra, Siegert, Anna‐Maria, Batlle, Montserrat, Gorbenko del Blanco, Darya, Meirelles, Thayna, Rubies, Cira, Bonorino, Fabio, Serra‐Peinado, Carla, Bijnens, Bart, Baudin, Julio, Sitges, Marta, Mont, Lluís, Guasch, Eduard, Egea, Gustavo
Published in Journal of the American Heart Association (2017)
Published in Journal of the American Heart Association (2017)
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