Francisco Martinez Castellano (Francisco Martínez, Francisco Martinez)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2015-2023
Publications (10 Years): 10

Top Topics

Pseudomonas Aeruginosa

Intellectual Disability

Top Venues

International journal of molecular sciences

European journal of human genetics : EJHG

American journal of medical genetics. Part A

International journal of genomics

This page only lists publications with an associated author ORCID identifier.

Publications

Gholson J Lyon, Marall Vedaie, Travis Beisheim, Agnes Park, Elaine Marchi, Leah Gottlieb, Tzung-Chien Hsieh, Hannah Klinkhammer, Katherine Sandomirsky, Hanyin Cheng, Lois J Starr, Isabelle Preddy, Marcellus Tseng, Quan Li, Yu Hu, Kai Wang, Ana Carvalho, Francisco Martinez Castellano, Alfonso Caro-Llopis, Maureen Gavin, Karen Amble, Peter Krawitz, Ronen Marmorstein, Ellen Herr-Israel
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome. European journal of human genetics : EJHG (2023)
Sonia Mayo, Irene Gomez-Manjon, Ana Victoria Marco-Hernández, Francisco Javier Fernández-Martínez, Ana Camacho, Francisco Martinez Castellano
N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants. International journal of molecular sciences 24 (7) (2023)
Sonia Mayo, Irene Gomez-Manjon, Francisco Javier Fernández-Martínez, Ana Camacho, Francisco Martinez Castellano, Julián Benito-León
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy. International journal of molecular sciences 23 (9) (2022)
Pablo Gargallo, Silvestre Oltra, María Tasso, Julia Balaguer, Yania Yáñez, Sandra Dolz, Inés Calabria, Francisco Martinez Castellano, Vanessa Segura, Antonio Juan-Ribelles, Margarita Llavador, Victoria Castel, Adela Cañete, Jaime Font de Mora
Germline variant in Ctcf links mental retardation to Wilms tumor predisposition. European journal of human genetics : EJHG 30 (11) (2022)
Ana Victoria Marco Hernández, Alfonso Caro, Alejandro Montoya Filardi, Miguel Tomás Vila, Sandra Monfort, Beatriz Beseler Soto, Juan José Nieto-Barceló, Francisco Martinez Castellano
Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability. American journal of medical genetics. Part A (2021)
Sonia Mayo, Irene Gomez-Manjon, Fco Javier Fernández-Martínez, Ana Camacho, Francisco Martinez Castellano, Julián Benito-León
Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature. International journal of molecular sciences 22 (11) (2021)
Francisca Moreno-Macián, Carmen De Mingo Alemany, Sara León Cariñena, Pedro Ortega López, Dolores Rausell Felix, María Aparisi Navarro, Marina Martinez Matilla, Cristina Cardona Gay, Francisco Martinez Castellano, Vicente Albiach Mesado
Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia. Journal of pediatric endocrinology & metabolism : JPEM 33 (10) (2020)
Lianne C Krab, Íñigo Marcos-Alcalde, Melissa Assaf, Meena Balasubramanian, Janne Bayer Andersen, Anne-Marie Bisgaard, David R Fitzpatrick, Sanna Gudmundsson, Sylvia A Huisman, Tugba Kalayci, Saskia M Maas, Francisco Martinez Castellano, Margo Whiteford, Leonie A Menke, Paul A Mulder, Oliver D Murch, Michael Parker, Juan Pie, Feliciano J Ramos, Claudine Rieubland, Jill Anne Rosenfeld, Emanuela Scarano, Marwan S Shinawi, Paulino Gómez-Puertas, Zeynep Tümer, Raoul C M Hennekam
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21. Human genetics 139 (5) (2020)
Sonia Mayo, Sandra Monfort, Mónica Roselló, Carmen Orellana, Silvestre Oltra, Alfonso Caro-Llopis, Francisco Martinez Castellano
Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability. International journal of genomics 2017 (2017)
Sonia Mayo, Mónica Roselló, Sandra Monfort, Silvestre Oltra, Carmen Orellana, Francisco Martinez Castellano
Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder. Genetics in medicine : official journal of the American College of Medical Genetics 17 (8) (2016)
Francisco Martinez Castellano, Purificación Marín-Reina, Amparo Sanchis-Calvo, Antonio Perez-Aytés, Silvestre Oltra, Mónica Roselló, Sonia Mayo, Sandra Monfort, Jorge Pantoja, Carmen Orellana
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. Pediatric research 78 (5) (2015)