Publications by authors named "Felipe Moreno"

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A methodology to implement a closed-loop feedback-feedforward level control in a laboratory-scale flotation bank using peristaltic pumps.
Paulina Quintanilla, Daniel Navia, Felipe Moreno, Stephen J Neethling, Pablo R Brito-Parada

MethodsX· February 2023

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Experimental model for removal of snake venom via hemoperfusion in rats.
Maximilian Estevan Oliveira, Jéssica Campanholi, Roberta Lima Cavalcante, Felipe Silveira Moreno, Edson Hideaki Yoshida

J Vet Emerg Crit Care (San Antonio)· May 2020

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New pharmacological insights of .
Márcio G Dos Santos, Felipe S Moreno, Akila L de Oliveira, Isadora C F Oliveira, Natália Tribuiani

Nat Prod Res· August 2019

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A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment.
Marta Gandía, Francisco J Del Castillo, Francisco J Rodríguez-Álvarez, Gema Garrido, Manuela Villamar, Miguel A Moreno-Pelayo, Felipe Moreno

PLoS One· June 2014

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Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane.
P Kevin Legan, Richard J Goodyear, Matías Morín, Angeles Mencia, Hilary Pollard, Felipe Moreno, Miguel-Angel Moreno-Pelayo

Hum Mol Genet· May 2014

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Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
Margit Schraders, Laura Ruiz-Palmero, Ersan Kalay, Jaap Oostrik, Francisco J del Castillo, Felipe Moreno

Am J Hum Genet· November 2012

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Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.
Mariem Ben Said, Houria Dhouib, Zeineb BenZina, Abdelmoneem Ghorbel, Felipe Moreno

Int J Pediatr Otorhinolaryngol· June 2012

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DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
Michael S Hildebrand, Matías Morín, Nicole C Meyer, Fernando Mayo, Silvia Modamio-Hoybjor, Felipe Moreno, Miguel A Moreno-Pelayo

Hum Mutat· July 2011

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Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
Antje K Huebner, Marta Gandia, Peter Frommolt, Anika Maak, Eva M Wicklein, Felipe Moreno

Am J Hum Genet· May 2011

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Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family.
Helena Simões-Teixeira, Tiago D Matos, Marta Canas Marques, Oscar Dias, Mário Andrea, Felipe Moreno

Am J Med Genet A· April 2011

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Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing.
Silvia Naranjo, Krysta Voesenek, Elisa de la Calle-Mustienes, Alex Robert-Moreno, Haris Kokotas, Felipe Moreno

Hum Genet· October 2010

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Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.
Antonio Viñuela, Matías Morín, Manuela Villamar, Constantino Morera, M José Lavilla, Miguel A Moreno-Pelayo, Felipe Moreno

Am J Med Genet A· October 2009

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In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.
Matías Morín, Keith E Bryan, Fernando Mayo-Merino, Richard Goodyear, Angeles Mencía, Felipe Moreno, Miguel Angel Moreno-Pelayo

Hum Mol Genet· August 2009

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Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.
Angeles Mencía, Silvia Modamio-Høybjør, Nick Redshaw, Matías Morín, Fernando Mayo-Merino, Felipe Moreno, Miguel Angel Moreno-Pelayo

Nat Genet· May 2009

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Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
Nele Hilgert, Matthew J Huentelman, Ashley Q Thorburn, Erik Fransen, Nele Dieltjens, Felipe Moreno

Eur J Hum Genet· April 2009

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A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.
Luis A Aguirre, Manuel Pérez-Bas, Manuela Villamar, M Asunción López-Ariztegui, Miguel A Moreno-Pelayo, Felipe Moreno

Neuromuscul Disord· December 2008

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Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.
Alejandra Pera, Silvia Dossena, Simona Rodighiero, Marta Gandía, Guido Bottà, Felipe Moreno

Proc Natl Acad Sci U S A· November 2008

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A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
Alejandra Pera, Manuela Villamar, Antonio Viñuela, Marta Gandía, Carme Medà, Felipe Moreno

Eur J Hum Genet· August 2008

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A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Montserrat Rodríguez-Ballesteros, Raúl Reynoso, Margarita Olarte, Manuela Villamar, Constantino Morera, Miguel A Moreno-Pelayo, José Moreno-Barral, Felipe Moreno

Hum Mutat· June 2008

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Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene.
Miguel Angel Moreno-Pelayo, Richard J Goodyear, Angeles Mencía, Silvia Modamio-Høybjør, P Kevin Legan, Felipe Moreno

J Assoc Res Otolaryngol· June 2008

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A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.
Matías Morín, Antonio Viñuela, Teresa Rivera, Manuela Villamar, Miguel A Moreno-Pelayo, Felipe Moreno

Am J Med Genet A· April 2008

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A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.
Angeles Mencía, Daniel González-Nieto, Silvia Modamio-Høybjør, Ainhoa Etxeberría, Gracia Aránguez, Felipe Moreno, Miguel Angel Moreno-Pelayo

Hum Genet· February 2008

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A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss.
Silvia Modamio-Hoybjor, Angeles Mencia, Richard Goodyear, Ignacio del Castillo, Guy Richardson, Felipe Moreno, Miguel Angel Moreno-Pelayo

Am J Hum Genet· June 2007

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Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.
Alba M Hernández, Manuela Villamar, Lidia Roselló, Miguel A Moreno-Pelayo, Felipe Moreno

Am J Med Genet A· April 2007

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Persistent sinus venosus valve mimicking pulmonary stenosis and atrial tumor.
Felipe Moreno, Carmen Castro, Daniel Borches, María Jesús Cerro, Luis Garcia-Guereta

Ann Thorac Surg· March 2006

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