Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Pablo Roman-Naranjo"'
Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus
Autor:
Alvaro Gallego-Martinez, Alba Escalera-Balsera, Natalia Trpchevska, Paula Robles-Bolivar, Pablo Roman-Naranjo, Lidia Frejo, Patricia Perez-Carpena, Jan Bulla, Silvano Gallus, Barbara Canlon, Christopher R. Cederroth, Jose A. Lopez-Escamez
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)
Abstract Tinnitus is the phantom percept of an internal non-verbal set of noises and tones. It is reported by 15% of the population and it is usually associated with hearing and/or brain disorders. The role of structural variants (SVs) in coding and
Externí odkaz:
https://doaj.org/article/5734f936892f451682d332dfb3663313
Autor:
Pablo Roman‐Naranjo, Alberto M. Parra‐Perez, Alba Escalera‐Balsera, Andres Soto‐Varela, Alvaro Gallego‐Martinez, Ismael Aran, Nicolas Perez‐Fernandez, David Bächinger, Andreas H. Eckhard, Rocio Gonzalez‐Aguado, Lidia Frejo, Jose A. Lopez‐Escamez
Publikováno v:
Clinical and Translational Medicine, Vol 12, Iss 6, Pp n/a-n/a (2022)
Externí odkaz:
https://doaj.org/article/ed8231449a64420dac355f364908ecbf
Autor:
Angelo Augusto M. Sumalde, Melissa A. Scholes, Olivia A. Kalmanson, Elizabeth A. Terhune, Lidia Frejo, Cambria I. Wethey, Pablo Roman-Naranjo, Patrick M. Carry, Samuel P. Gubbels, Jose A. Lopez-Escamez, Nancy Hadley-Miller, Regie Lyn P. Santos-Cortez
Publikováno v:
Genes, Vol 14, Iss 4, p 831 (2023)
Vertigo due to vestibular dysfunction is rare in children. The elucidation of its etiology will improve clinical management and the quality of life of patients. Genes for vestibular dysfunction were previously identified in patients with both hearing
Externí odkaz:
https://doaj.org/article/ecde0cae61534709b4a6d72867c6f590
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Meniere's disease (MD) is a clinical spectrum of rare disorders characterized by vertigo attacks, associated with sensorineural hearing loss (SNHL) and tinnitus involving low to medium frequencies. Although it shows familial aggregation with incomple
Externí odkaz:
https://doaj.org/article/122b248d8ec34ff086d25dc562d4f8ab
Publikováno v:
Genes, Vol 11, Iss 12, p 1414 (2020)
Familial Meniere Disease (FMD) is a rare inner ear disorder characterized by episodic vertigo associated with sensorineural hearing loss, tinnitus and/or aural fullness. We conducted a systematic review to find sequencing studies segregating rare var
Externí odkaz:
https://doaj.org/article/065d9da706fd4eb1996c0eb94abe043b
Publikováno v:
Medizinische Genetik. 32:141-148
Meniere disease (MD) represents a heterogeneous group of relatively rare disorders of the inner ear that causes vertigo attacks, fluctuating sensorineural hearing loss (SNHL) involving low and medium frequencies, tinnitus, and aural fullness. MD has
Autor:
Paz Pérez-Vázquez, Pablo Roman-Naranjo, Angel Batuecas-Caletrio, Maria del Carmen Moleon, Jose A. Lopez-Escamez, Alvaro Gallego-Martinez, Juan Manuel Espinosa-Sanchez, Andrés Soto-Varela, Ismael Aran, Juan Carlos Amor-Dorado
Publikováno v:
Ear and hearing. 41(6)
OBJECTIVES Meniere's disease (MD) is a rare inner ear disorder characterized by sensorineural hearing loss, episodic vertigo, and tinnitus. Familial MD has been reported in 6 to 9% of sporadic cases, and few genes including FAM136A, DTNA, PRKCB, SEMA
Publikováno v:
ACTUALIDAD MEDICA. 102:135-139
A José Antonio López Escamez, por la revisión crítica de este ma- nuscrito. Este Trabajo forma parte del Trabajo fin de Master de Ingeniería Titular y Terapias Avanzadas de Iván Morales Esquina.
Introducción: La hipoacusia es una de las a
Introducción: La hipoacusia es una de las a
Autor:
Paz Pérez-Vázquez, Jose A. Lopez-Escamez, Pablo Roman-Naranjo, Juan Manuel Espinosa-Sanchez, Andrés Soto-Varela, Ismael Aran, Juan Carlos Amor-Dorado, Alvaro Gallego-Martinez, Maria del Carmen Moleon, Angel Batuecas-Caletrio
ObjectivesMeniere’s disease (MD) is a rare inner ear disorder characterized by sensorineural hearing loss, episodic vertigo and tinnitus. Familial MD has been reported in 6-9% of sporadic cases, and few genes includingFAM136A, DTNA, PRKCB, SEMA3Dan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe91e5b1a157cc196b8031ddf6e2a538
Autor:
Alvaro Gallego-Martinez, Jose A. Lopez-Escamez, Pablo Roman-Naranjo, Patrick May, Teresa Requena
Publikováno v:
Journal of medical genetics. 57(2)
IntroductionMeniere’s disease (MD) is a rare inner ear disorder with a significant genetic contribution defined by a core phenotype: episodic vertigo, sensorineural hearing loss and tinnitus. It has been mostly described in sporadic cases, familial