Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Jana Aguirre-Lamban"'
Autor:
Marta Del Pozo-Valero, I. Lorda-Sánchez, Rosa Riveiro-Alvarez, Marta Corton, Fiona Blanco-Kelly, María José Trujillo-Tiebas, Belen Jimenez-Rolando, Blanca Garcia-Sandoval, Almudena Avila-Fernandez, Inmaculada Martin-Merida, Carmen Ayuso, Carlo Rivolta, Elvira Rodriguez-Pinilla, Jana Aguirre-Lamban, Ester Carreño, Ionut-Florin Iancu, Ignacio Mahillo-Fernández, Saoud Tahsin Swafiri
Publikováno v:
American journal of ophthalmology. 219
Purpose To define genotype–phenotype correlations in the largest cohort study worldwide of patients with biallelic ABCA4 variants, including 434 patients with Stargardt disease (STGD1) and 72 with cone-rod dystrophy (CRD). Design Cohort study. Meth
Autor:
Marta Corton, Miguel-Angel Lopez-Martinez, M J Trujillo-Tiebas, Almudena Avila-Fernandez, Rosa Riveiro-Alvarez, Carmen Ramos, Sorina D. Tatu, Blanca Garcia-Sandoval, Jana Zernant, Maria-Isabel Lopez-Molina, Diego Cantalapiedra, Rando Allikmets, Fiona Blanco-Kelly, Ascension Gimenez, Carmen Ayuso, Patricia Fernandez-San Jose, Jana Aguirre-Lamban
Publikováno v:
Ophthalmology. 120:2332-2337
Objective To provide a comprehensive overview of all detected mutations in the ABCA4 gene in Spanish families with autosomal recessive retinal disorders, including Stargardt's disease (arSTGD), cone-rod dystrophy (arCRD), and retinitis pigmentosa (ar
Autor:
Elena Vallespín, Carmen Ayuso, Carmen Ramos, Diego Cantalapiedra, Susana Maia-Lopes, Jana Aguirre-Lamban, Almudena Avila-Fernandez, C Villaverde-Montero, Rosa Riveiro-Alvarez, M J Trujillo-Tiebas
Publikováno v:
The British Journal of Ophthalmology
Background/aims: Mutations in ABCA4 have been associated with autosomal recessive Stargardt disease (STGD), a few cases with autosomal recessive cone–rod dystrophy (arCRD) and autosomal recessive retinitis pigmentosa (arRP). The purpose of the stud
Autor:
Elena Vallespín, Jana Aguirre-Lamban, Carmen Ramos, Diego Cantalapiedra, Almudena Avila-Fernandez, M. Jose Trujillo-Tiebas, Rosa Riveiro-Alvarez, Carmen Ayuso, M Angel Lopez-Martinez
Publikováno v:
The British Journal of Ophthalmology
Background/aims: To determine the carrier frequency of ABCA4 mutations in order to achieve an insight into the prevalence of autosomal recessive Stargardt disease (arSTGD) in Spanish population. Methods: 133 arSTGD patients were analysed using the AB
Autor:
Elena Vallespín, Rosa Riveiro-Alvarez, Jesús Gallego, Diego Cantalapiedra, Carmen Ayuso, Jana Aguirre-Lamban, M J Trujillo-Tiebas, José M. Millán
Publikováno v:
Human Genetics. 121:287-299
Autor:
Maria Luisa Poch-Olive, Elena Domínguez-Garrido, García-Oguiza A, Jana Aguirre-Lamban, Paula Santibáñez, María López, Cristina Cervera-Acedo
Publikováno v:
Human Genome Variation
Creatine transporter (CT) deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. We describe a clinical, biochemical and molecular examination of a child with X-linked cerebral creatine deficiency. Increased urinary creatine/creat
Autor:
Rosa, Riveiro-Alvarez, Miguel-Angel, Lopez-Martinez, Jana, Zernant, Jana, Aguirre-Lamban, Diego, Cantalapiedra, Almudena, Avila-Fernandez, Ascension, Gimenez, Maria-Isabel, Lopez-Molina, Blanca, Garcia-Sandoval, Fiona, Blanco-Kelly, Marta, Corton, Sorina, Tatu, Patricia, Fernandez-San Jose, Maria-Jose, Trujillo-Tiebas, Carmen, Ramos, Rando, Allikmets, Carmen, Ayuso
Publikováno v:
Ophthalmology. 120(11)
To provide a comprehensive overview of all detected mutations in the ABCA4 gene in Spanish families with autosomal recessive retinal disorders, including Stargardt's disease (arSTGD), cone-rod dystrophy (arCRD), and retinitis pigmentosa (arRP), and t
Autor:
Jana, Aguirre-Lamban, R, Riveiro-Alvarez, D, Cantalapiedra, M, Garcia-Hoyos, A, Avila-Fernandez, C, Villaverde-Montero, M J, Trujillo-Tiebas, C, Ayuso
Publikováno v:
Human genetics. 127(1)
Autor:
María José Trujillo-Tiebas, Rosa Riveiro-Alvarez, Diego Cantalapiedra, Almudena Avila-Fernandez, Maria Garcia-Hoyos, Jana Aguirre-Lamban, Carmen Ayuso, C Villaverde-Montero, Carmen Ramos
Publikováno v:
Investigative ophthalmologyvisual science. 51(5)
PURPOSE. Mutations in the ABCA4 gene have been associated with autosomal recessive Stargardt disease (STGD), a few cases of autosomal recessive cone-rod dystrophy (arCRD), and autosomal recessive retinitis pigmentosa (arRP). The purpose of this study
Autor:
Jana, Aguirre-Lamban, R, Riveiro-Alvarez, M, Garcia-Hoyos, D, Cantalapiedra, M, Martinez-Garcia, E, Vallespin, A, Avila-Fernandez, C, Villaverde-Montero, M J, Trujillo-Tiebas, C, Ayuso
Publikováno v:
Human genetics. 126(2)