Sara Benito-Sanz - Dissemin

All papers authored by Sara Benito-Sanz

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2021 Sentchordi-Montane L., Lucía Sentchordi-Montané

, Sara Benito-Sanz

, Miriam Aza-Carmona, Benito-Sanz S., Francisca Díaz-González

, Aza-Carmona M., Silvia Modamio-Høybjør

, Diaz-Gonzalez F., Carolina de la Torre, Modamio-Hoybjor S., Torre C. De La, Julián Nevado, Nevado J., Pablo Ruiz-Ocaña and 45 other authors

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

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2018 Isabella Skuplik, Sara Benito-Sanz

, Jessica M. Rosin, Brent E. Bobick, Karen E. Heath, John Cobb

Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene

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Lucía Sentchordi-Montané

, Miriam Aza-Carmona, Sara Benito-Sanz

, Ana C. Barreda-Bonis, Consuelo Sánchez-Garre, Pablo Prieto-Matos, Pablo Ruiz-Ocaña, Alfonso Lechuga-Sancho, Atilano Carcavilla-Urquí, Inés Mulero-Collantes, Gabriel A. Martos-Moreno, Angela del Pozo, Elena Vallespín, Amaka Offiah, Manuel Parrón-Pajares and 5 other authors

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

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2017 Alfonso Hisado-Oliva, Alba Ruzafa-Martin, Lucia Sentchordi

, Mariana F. A. Funari, Carolina Bezanilla-López, Marta Alonso-Bernáldez, Jimena Barraza-García, Maria Rodriguez-Zabala, Antonio M. Lerario, Sara Benito-Sanz

, Miriam Aza-Carmona, Angel Campos-Barros

, Alexander A. L. Jorge, Karen E. Heath

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

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2016 Sara Benito-Sanz

, Alberta Belinchon-Martínez, Miriam Aza-Carmona, Carolina de la Torre, Celine Huber, Isabel González-Casado, Judith L. Ross, N. Simon Thomas, Andrew R. Zinn, Valerie Cormier-Daire

, Karen E. Heath

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region

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2015 Hannah Verdin, Kathleen De Waele, Ana Fernández-Miñán, Sara Benito-Sanz

, Sandra Janssens, Jean De Schepper, Bert Callewaert

, Kathleen De Waele, Jean De Schepper, Inge François, Björn Menten, Karen E. Heath

, José Luis Gómez-Skarmeta, Elfride De Baere, Elfride De Baere

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

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Alfonso Hisado-Oliva, Ana I. Garre-Vázquez, Fabiola Santaolalla-Caballero, Alberta Belinchón, Ana C. Barreda-Bonis, Gabriela A. Vasques, Joaquin Ramirez, Cristina Luzuriaga, Gianni Carlone, Isabel González-Casado, Sara Benito-Sanz

, Alexander A. Jorge, Angel Campos-Barros

, Karen E. Heath

HeterozygousNPR2Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis

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This paper is available in a repository.

Eva Barroso, Julia Berges-Soria, Sara Benito-Sanz

, Carlos Ivan Rivera-Pedroza, Rivera Pedroza Ci, María Juliana Ballesta-Martínez, Ballesta Martínez Mj, Vanesa Lopez-Gonzalez, Encarna Guillen-Navarro, Karen E. Heath

, Heath Ke

Identification of the Fourth Duplication of Upstream IHH Regulatory Elements, in a Family with Craniosynostosis Philadelphia Type, Helps to Define the Phenotypic Characterization of These Regulatory Elements

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2014 Beatriz Paumard-Hernández, Julia Berges-Soria, Eva Barroso, Carlos I. Rivera Pedroza, Virginia Pérez-Carrizosa, Sara Benito-Sanz

, Eva López-Messa, Fernando Santos, Ignacio I. García Recuero, Ignacio I. García-Recuero, Ana Romance, Juliana María Ballesta-Martínez, Vanesa López-González, Angel Campos-Barros

, Jaime Cruz and 6 other authors

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: Identification and characterization of novel TCF12 variants

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Miriam Aza-Carmona, Veronica Barca-Tierno, Alfonso Hisado-Oliva, Alberta Belinchón, Darya Gorbenko Del Blanco, Jose Ignacio Rodriguez, Sara Benito-Sanz

, Angel Campos-Barros

, Karen E. Heath

NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development

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2012 Sara Benito-Sanz

, Jose Luis Royo, Eva Barroso, Beatriz Paumard-Hernández, Ana C. Barreda-Bonis, Pengfei Liu, Ricardo Gracía, James R. Lupski, Ángel Campos-Barros, José Luis Gómez-Skarmeta, Karen Elise Heath

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novelSHOXenhancer

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Juliette Albuisson, Sébastien Schmitt, Sabine Baron, Stéphane Bézieau, Sara Benito-Sanz

, Karen E. Heath

Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD)

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2011 Sara Benito-Sanz

, Miriam Aza-Carmona, Amaya Rodríguez-Estevez, Ixaso Rica-Etxebarria, Ricardo Gracia, Ángel Campos-Barros, Karen E. Heath

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature

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Verónica Barca-Tierno, Miriam Aza-Carmona, Eva Barroso, Damia Heine-Suner

, Dimitar Nikolaev Azmanov, Jordi Rosell, Begoña Ezquieta, Lucia Sentchordi Montané, Teresa Vendrell, Jaime Cruz, Fernando Santos, José Ignacio Rodríguez, Jesús Pozo, Jesús Argente, Luba Kalaydjieva and 4 other authors

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

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S. Benito Sanz

, A. Aragones, R. Gracia, A. Campos Barros, K. E. Heath

A Non-Pathogenic Pseudoautosomal Region 1 Copy Number Variant Downstream of SHOX

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S. Benito-Sanz

, E. Barroso, D. Heine-Suñer

, A. Hisado-Oliva, V. Romanelli, J. Rosell, A. Aragones, M. Caimari, J. Argente, J. L. Ross, A. R. Zinn, R. Gracia, P. Lapunzina, A. Campos-Barros

, K. E. Heath

Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)

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Miriam Aza-Carmona, Debbie J. Shears, Patricia Yuste-Checa, Verónica Barca-Tierno, Alfonso Hisado-Oliva, Alberta Belinchón, Sara Benito-Sanz

, J. Ignacio Rodríguez, Jesús Argente, Angel Campos-Barros

, Peter J. Scambler, Karen E. Heath

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer

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2010 Eva Barroso, Sara Benito-Sanz

, Alberta Belinchón, Patricia Yuste-Checa, Ricardo Gracia, Angel Aragones, Angel Campos-Barros

, Karen E. Heath

Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD)

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Valeria Romanelli, Alberta Belinchón, Sara Benito-Sanz

, Victor Martínez-Glez, Ricardo Gracia-Bouthelier, Karen E. Heath

, Angel Campos-Barros

, Sixto García-Miñaur, Luís Fernandez, Heloisa Meneses, Juan Pedro López-Siguero, Encarna Guillén-Navarro, Paulino Gómez-Puertas, Jan-Jaap Wesselink, Graciela Mercado and 6 other authors

CDKN1C (p57(Kip2)) Analysis in Beckwith-Wiedemann Syndrome (BWS) Patients: Genotype-Phenotype Correlations, Novel Mutations, and Polymorphisms

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2007 Ángel Campos‐Barros, Sara Benito‐Sanz

, Judith L. Ross, Andrew R. Zinn, Karen E. Heath

Compound heterozygosity of SHOX‐encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD)

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All papers authored by Sara Benito-Sanz