Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Ana Plasencia"'
Autor:
Rubén Cabanillas, Marta Diñeiro, Guadalupe A. Cifuentes, David Castillo, Patricia C. Pruneda, Rebeca Álvarez, Noelia Sánchez-Durán, Raquel Capín, Ana Plasencia, Mónica Viejo-Díaz, Noelia García-González, Inés Hernando, José L. Llorente, Alfredo Repáraz-Andrade, Cristina Torreira-Banzas, Jordi Rosell, Nancy Govea, Justo Ramón Gómez-Martínez, Faustino Núñez-Batalla, José A. Garrote, Ángel Mazón-Gutiérrez, María Costales, María Isidoro-García, Belén García-Berrocal, Gonzalo R. Ordóñez, Juan Cadiñanos
Publikováno v:
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-17 (2018)
Abstract Background Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL. However, accurate selection of targ
Externí odkaz:
https://doaj.org/article/349bbb0f700a431083cd99f349786e3a
Autor:
Ana Plasencia, Guadalupe A. Cifuentes, María Costales, Marta Diñeiro, Andrea Otero, José Luis Llorente, Juan Cadiñanos, Justo R. Gómez, Faustino Núñez, Raquel Capín, Rubén Cabanillas, Mónica Viejo-Díaz
Publikováno v:
Acta Otorrinolaringológica Española. 71:166-174
Resumen Introduccion La hipoacusia neurosensorial (HNS) es el deficit sensorial mas prevalente en nuestro medio. La secuenciacion genomica de nueva generacion (NGS) permite obtener un diagnostico etiologico en un alto porcentaje de pacientes. Nuestro
Autor:
Andrea Otero, Justo R. Gómez, Mónica Viejo-Díaz, María Costales, José Luis Llorente, Rubén Cabanillas, Juan Cadiñanos, Ana Plasencia, Faustino Núñez, Marta Diñeiro, Guadalupe A. Cifuentes, Raquel Capín
Publikováno v:
Acta Otorrinolaringologica (English Edition). 71:166-174
Introduction Sensorineural hearing loss (SNL) is the most prevalent sensory deficit in our environment. The next generation genomic sequencing (NGS) allows to obtain an etiological diagnosis in a high percentage of patients. Our pilot study shows the
Autor:
Alfredo Repáraz-Andrade, María Isidoro-García, Noelia García-González, Mónica Viejo-Díaz, Ana Plasencia, Cristina Torreira-Banzas, Faustino Núñez-Batalla, Nancy Govea, Rebeca Álvarez, María Costales, Gonzalo R. Ordóñez, Noelia Sánchez-Durán, Marta Diñeiro, Raquel Capín, David Castillo, Justo R. Gómez-Martínez, Patricia C. Pruneda, Juan Cadiñanos, Jordi Rosell, Ángel Mazón-Gutiérrez, Belén García-Berrocal, José Luis Llorente, Inés Hernando, José Antonio Garrote, Rubén Cabanillas, Guadalupe A. Cifuentes
Publikováno v:
BMC Medical Genomics
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-17 (2018)
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-17 (2018)
Background: Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL. However, accurate selection of target genom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00944c691e692906bdbc488fb1deab92
https://hdl.handle.net/20.500.13003/9217
https://hdl.handle.net/20.500.13003/9217
Autor:
Juan Gómez, Victoria Alvarez, Serafín Málaga, Ana Plasencia, Belén Alonso, A. Benavides, Inés Hernando, Fernando Santos, Beatriz Tavira, Sara Iglesias, Javier Fernández-Aracama, Eliecer Coto
Publikováno v:
Gene. 561:165-169
The Sanger sequencing of patients with recessive polycystic kidney disease is challenging due to the length and heterogeneous mutational spectrum of the PKHD1 gene. Next generation sequencing (NGS) might thus be of special interest to search for PKHD
Autor:
Samarth Bhatt, Joaquín Fernández-Toral, Ana Plasencia, Elena Abarca, Marcelo de Bello Cioffi, Mónica García-Castro, Thomas Liehr, Laura María Lojo Rodríguez
Publikováno v:
Gene. 535(2)
Until now, few cases of partial trisomy of 3q due to segregation error of parental balanced translocation and segregation of a duplicated deficient product resulting from parental pericentric inversion have been reported so far. Only five cases of ch
Autor:
A. Benavides, Eliecer Coto, María J. Menéndez, Inés Hernando, Ana Plasencia, Joaquín Fernández Toral, Carlos López-Larrea
Publikováno v:
American Journal of Medical Genetics. 57:393-396
The presence of Y chromosome sequences in Ullrich-Turner syndrome (UTS) patients has been suggested in previous work. Karyotype analysis estimated at about 60% of patients with a 45, X constitution and molecular analysis (Southern blot analysis with
Autor:
Elisabeth Ewers, Ahmed B. Hamid, Thomas Liehr, Monika Ziegler, Laura María Lojo Rodríguez, Joaquín Fernández-Toral, María Luisa Martínez-Frías, Ana Plasencia
Publikováno v:
Repisalud
Instituto de Salud Carlos III (ISCIII)
Journal of Medical Case Reports
Journal of Medical Case Reports, Vol 4, Iss 1, p 239 (2010)
Instituto de Salud Carlos III (ISCIII)
Journal of Medical Case Reports
Journal of Medical Case Reports, Vol 4, Iss 1, p 239 (2010)
Introduction Small supernumerary marker chromosomes are still a problem in cytogenetic diagnostic and genetic counseling. This holds especially true for the rare cases with multiple small supernumerary marker chromosomes. Most such cases are reported
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1346e22a8ea8615e0ade29e67a2d97b
http://hdl.handle.net/20.500.12105/7070
http://hdl.handle.net/20.500.12105/7070
Autor:
Juan Zapata, Miguel García-Diaz, Francisco Téllez, María Victoria Azuara, Juan José Dorado, Ana Plasencia
Publikováno v:
Pancreas. 14:309-311
Autor:
Antonio, Jalón Monzón, José Luis, Martín Benito, Jorge, García Rodríguez, Ana, Plasencia Amela, Jesús María, Fernández Gómez, Maite, Fernández García, Oscar, Rodríguez Faba, Francisco Javier, Regadera Sejas
Publikováno v:
Archivos espanoles de urologia. 56(10)
We report 2 cases of Sertoli cell only syndrome and perform a bibliographic review.Clinical and pathologic study of 2 male patients 33 and 37-year-old respectively who presented with infertility.Testicular biopsy, the most important diagnostic test i