Publications by authors named "Blanca Gener"

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Modulation of NEAT1 and MALAT1 expression in WJ-MSCs by Covid-19 serum: a foundation for EVs-mediated therapy.
Arantza Infante, Leire Cabodevilla, Blanca Gener, Daniela Gerovska, Marcos J Araúzo Bravo

Respir Res· November 2025

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Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.
Laura Trujillano, Irene Valenzuela, Mar Costa-Roger, Ivon Cuscó, Paula Fernandez-Alvarez, Blanca Gener

Clin Genet· June 2025

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The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Birk Möller, Lena-Luise Becker, Afshin Saffari, Alexandra Afenjar, Emanuele G Coci, Blanca Gener

Brain· February 2025

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Galunisertib downregulates mutant type I collagen expression and promotes MSCs osteogenesis in pediatric osteogenesis imperfecta.
Arantza Infante, Natividad Alcorta-Sevillano, Iratxe Macías, Leire Cabodevilla, Dalia Medhat, Blanca Gener

Biomed Pharmacother· June 2024

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Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.
Roberta De Mori, Silvia Tardivo, Lidia Pollara, Silvia Clara Giliani, Eltahir Ali, Blanca Gener

Cell Tissue Res· May 2024

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Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.
Piedad Alba-Pavón, Itziar Astigarraga, Lide Alaña, Isabel Llano-Rivas, Blanca Gener

Transl Pediatr· September 2023

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FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Auriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, Blanca Gener, Isabelle Bailleul-Forestier

Genet Med· December 2022

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Activation of cryptic donor splice sites by non-coding and coding variants contributes to congenital aniridia.
Maria Tarilonte, Patricia Ramos, Jennifer Moya, Guilermo Fernandez-Sanz, Fiona Blanco-Kelly, Blanca Gener

J Med Genet· May 2022

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PIGN encephalopathy: Characterizing the epileptology.
Allan Bayat, Guillem de Valles-Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Blanca Gener

Epilepsia· April 2022

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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Blanca Gener

Front Genet· April 2022

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Circulating TGF-β Pathway in Osteogenesis Imperfecta Pediatric Patients Subjected to MSCs-Based Cell Therapy.
Arantza Infante, Leire Cabodevilla, Blanca Gener, Clara I Rodríguez

Front Cell Dev Biol· February 2022

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Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro-osteogenic paracrine response: TERCELOI clinical trial.
Arantza Infante, Blanca Gener, Miguel Vázquez, Nerea Olivares, Arantza Arrieta

Clin Transl Med· January 2021

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Primrose syndrome: Characterization of the phenotype in 42 patients.
Daniela Melis, Daniel Carvalho, Tina Barbaro-Dieber, Alberto J Espay, Michael J Gambello, Blanca Gener

Clin Genet· June 2020

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Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
Nekane Ibarluzea, Ana Belén de la Hoz, Olatz Villate, Isabel Llano, Intzane Ocio, Blanca Gener

Genes (Basel)· January 2020

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The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Alison Foster, Anna Zachariou, Chey Loveday, Tazeen Ashraf, Edward Blair, Blanca Gener

Am J Med Genet C Semin Med Genet· December 2019

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Blanca Gener

Genet Med· September 2019

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Suitability and limitations of mesenchymal stem cells to elucidate human bone illness.
Izaskun Mitxitorena, Arantza Infante, Blanca Gener, Clara I Rodríguez

World J Stem Cells· September 2019

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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Blanca Gener

Genet Med· June 2019

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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Peter D Turnpenny, Michael J Wright, Melissa Sloman, Richard Caswell, Anthony J van Essen, Blanca Gener

Am J Hum Genet· December 2018

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Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report.
Yerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, Nerea Gorria, Arrate Pereda, Blanca Gener

BMC Med Genomics· December 2018

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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Peter D Turnpenny, Michael J Wright, Melissa Sloman, Richard Caswell, Anthony J van Essen, Blanca Gener

Am J Hum Genet· November 2018

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Parental Mosaicism in Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
María Tarilonte, Matías Morín, Patricia Ramos, Marta Galdós, Fiona Blanco-Kelly, Blanca Gener

Front Genet· October 2018

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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with constitutive variants.
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Blanca Gener

Wellcome Open Res· April 2018

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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Blanca Gener

Orphanet J Rare Dis· March 2016

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Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.
Marta Codina-Solà, Benjamín Rodríguez-Santiago, Aïda Homs, Javier Santoyo, Maria Rigau, Blanca Gener

Mol Autism· May 2015

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