Publications by authors named "Ana Fontalba"

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Sensorineural Hearing Loss in Patients With the m.1555A>G Mutation in the MTRNR1 Gene.
Jaime Gallo-Terán, Cristina Salomón-Felechosa, Rocío González-Aguado, Esther Onecha, Ana Fontalba

Laryngoscope· February 2025

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Radixin modulates the function of outer hair cell stereocilia.
Sonal Prasad, Barbara Vona, Marta Diñeiro, María Costales, Rocío González-Aguado, Ana Fontalba

Commun Biol· December 2020

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Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Ana Fernández-Marmiesse, Iria Roca, Felícitas Díaz-Flores, Verónica Cantarín, Mª Socorro Pérez-Poyato, Ana Fontalba

Front Neurosci· November 2019

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Quality of life in patients with hereditary haemorrhagic telangiectasia (HHT).
Roberto Zarrabeitia, Concepción Fariñas-Álvarez, Miguel Santibáñez, Blanca Señaris, Ana Fontalba

Health Qual Life Outcomes· January 2017

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Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1.
Ana Fontalba, Jose L Fernández-Luna, Roberto Zarrabeitia, Lucia Recio-Poveda, Virginia Albiñana

BMC Med Genet· November 2013

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Expression and function of toll-like receptors in peripheral blood mononuclear cells of patients with polymyalgia rheumatica and giant cell arteritis.
Lorena Álvarez Rodríguez, Marcos López-Hoyos, Cristina Mata, Ana Fontalba, Jaime Calvo Alen

Ann Rheum Dis· September 2011

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Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.
Marcos Morey, Lidia Castro-Feijóo, Jesús Barreiro, Paloma Cabanas, Manuel Pombo, Ana Fontalba

BMC Med Genet· September 2011

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Gene-gene interaction between CARD8 and interleukin-6 reduces Alzheimer's disease risk.
Ana Fontalba, Olga Gutiérrez, Javier Llorca, Ignacio Mateo, José Luis Vázquez-Higuera

J Neurol· July 2009

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Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families.
Gonzalo de las Heras-Castaño, Beatriz Castro-Senosiaín, Ana Fontalba, Marcos López-Hoyos, Pascual Sánchez-Juán

JOP· May 2009

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Deficiency of CARD8 is associated with increased Alzheimer's disease risk in women.
Ana Fontalba, Olga Gutiérrez, Javier Llorca, Ignacio Mateo, José Berciano

Dement Geriatr Cogn Disord· January 2009

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Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.
Ana Fontalba, Africa Fernandez-L, Eva García-Alegria, Virginia Albiñana, Eva M Garrido-Martin

BMC Med Genet· August 2008

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NLRP2, an inhibitor of the NF-kappaB pathway, is transcriptionally activated by NF-kappaB and exhibits a nonfunctional allelic variant.
Ana Fontalba, Olga Gutierrez, Jose L Fernandez-Luna

J Immunol· December 2007

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Deficiency of the NF-kappaB inhibitor caspase activating and recruitment domain 8 in patients with rheumatoid arthritis is associated with disease severity.
Ana Fontalba, Victor Martinez-Taboada, Olga Gutierrez, Carlos Pipaon, Natividad Benito

J Immunol· October 2007

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Poly (ADP-ribose) polymerase-1 (PARP-1) genetic variants are protective against Parkinson's disease.
Jon Infante, Pascual Sánchez-Juan, Ignacio Mateo, Eloy Rodríguez-Rodríguez, Coro Sánchez-Quintana, Ana Fontalba

J Neurol Sci· May 2007

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Identification of c-Kit gene mutations in patients with polycythemia vera.
Ana Fontalba, Pedro J Real, Jose L Fernandez-Luna, Xabier Agirre, Felipe Prosper

Leuk Res· October 2006

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LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease.
Jon Infante, Eloy Rodríguez, Onofre Combarros, Ignacio Mateo, Ana Fontalba

Neurosci Lett· March 2006

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Successful treatment of refractory Schnitzler syndrome with anakinra: comment on the article by Hawkins et al.
Victor Manuel Martinez-Taboada, Ana Fontalba, Ricardo Blanco, Jose Luis Fernández-Luna

Arthritis Rheum· July 2005

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Imatinib inhibits proliferation of Ewing tumor cells mediated by the stem cell factor/KIT receptor pathway, and sensitizes cells to vincristine and doxorubicin-induced apoptosis.
Iranzu González, Enrique J Andreu, Angel Panizo, Susana Inogés, Ana Fontalba

Clin Cancer Res· January 2004

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Lack of Bcr-Abl point mutations in chronic myeloid leukemia patients in chronic phase before imatinib treatment is not predictive of response.
Xabier Agirre, Ana Fontalba, Enrique J Andreu, Maria Dolores Odero, María José Larráyoz

Haematologica· December 2003

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Interaction of the H63D mutation in the hemochromatosis gene with the apolipoprotein E epsilon 4 allele modulates age at onset of Alzheimer's disease.
Onofre Combarros, Marisa García-Román, Ana Fontalba, José L Fernández-Luna, Javier Llorca

Dement Geriatr Cogn Disord· July 2003

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Host recognition of bacterial muramyl dipeptide mediated through NOD2. Implications for Crohn's disease.
Naohiro Inohara, Yasunori Ogura, Ana Fontalba, Olga Gutierrez, Fernando Pons

J Biol Chem· February 2003

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Induction of Nod2 in myelomonocytic and intestinal epithelial cells via nuclear factor-kappa B activation.
Olga Gutierrez, Carlos Pipaon, Naohiro Inohara, Ana Fontalba, Yasunori Ogura

J Biol Chem· November 2002

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