What Do Young Adults Think about the Safety of Over-the-Counter Analgesics? Findings from a Cross-Sectional Survey

by Tahlia Duyster, Sara S. McMillan, Ella Whately, Fiona S. Kelly
Published 2021-03-01

Widening consumer access to medicines: a comparison of prescription to non-prescription medicine switch in Australia and New Zealand.

by Natalie J Gauld, Fiona S Kelly, Lynne M Emmerton, Stephen A Buetow
Published 2015-01-01

Amniotic fluid embolus in the absence of disseminated intravascular coagulation and respiratory failure: A diagnostic challenge

by Fiona C Oglesby, Sara-Catrin Cook, Fiona E Kelly, Chris Marsh
Published 2018-01-01

An Update on the Genetics of Usher Syndrome

by José M. Millán, Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascensión Gimenez-Pardo, Carmen Ayuso
Published 2011-01-01

Widening consumer access to medicines through switching medicines to non-prescription: a six country comparison.

by Natalie J Gauld, Fiona S Kelly, Nahoko Kurosawa, Linda J M Bryant, Lynne M Emmerton, Stephen A Buetow
Published 2014-01-01

Prevalent <i>ALMS1</i> Pathogenic Variants in Spanish Alström Patients

by Brais Bea-Mascato, Carlos Solarat, Irene Perea-Romero, Teresa Jaijo, Fiona Blanco-Kelly, José M. Millán, Carmen Ayuso, Diana Valverde
Published 2021-02-01

Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene

by Arantxa Bolinches-Amorós, Dunja Lukovic, Ana Artero Castro, Marian León, Kunka Kamenarova, Radka Kaneva, Pavla Jendelova, Fiona Blanco-Kelly, Carmen Ayuso, Marta Cortón, Slaven Erceg
Published 2018-04-01

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

by María Tarilonte, Matías Morín, Matías Morín, Patricia Ramos, Marta Galdós, Fiona Blanco-Kelly, Fiona Blanco-Kelly, Cristina Villaverde, Cristina Villaverde, Dolores Rey-Zamora, Gema Rebolleda, Francisco J. Muñoz-Negrete, Saoud Tahsin-Swafiri, Saoud Tahsin-Swafiri, Blanca Gener, Blanca Gener, Miguel-Angel Moreno-Pelayo, Miguel-Angel Moreno-Pelayo, Carmen Ayuso, Carmen Ayuso, Manuela Villamar, Manuela Villamar, Marta Corton, Marta Corton
Published 2018-10-01

Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.

by Cristina Medina-Trillo, Francisco Sánchez-Sánchez, José-Daniel Aroca-Aguilar, Jesús-José Ferre-Fernández, Laura Morales, Carmen-Dora Méndez-Hernández, Fiona Blanco-Kelly, Carmen Ayuso, Julián García-Feijoo, Julio Escribano
Published 2015-01-01

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

by Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton
Published 2017-01-01

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.

by Fiona Blanco-Kelly, María García Hoyos, Miguel Angel Lopez Martinez, Maria Isabel Lopez-Molina, Rosa Riveiro-Alvarez, Patricia Fernandez-San Jose, Almudena Avila-Fernandez, Marta Corton, Jose M Millan, Blanca García Sandoval, Carmen Ayuso
Published 2016-01-01

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

by Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, Gema García-García, Elena Aller, Blanca García-Sandoval, Pablo Mínguez, Marta Corton, Ignacio Mahíllo-Fernández, Inmaculada Martín-Mérida, Almudena Avila-Fernández, José M Millán, Carmen Ayuso
Published 2018-01-01

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis

by Andrey V. Marakhonov, Anna A. Voskresenskaya, Maria Jose Ballesta, Fedor A. Konovalov, Tatyana A. Vasilyeva, Fiona Blanco-Kelly, Nadezhda A. Pozdeyeva, Vitaly V. Kadyshev, Vanesa López-González, Encarna Guillen, Carmen Ayuso, Rena A. Zinchenko, Marta Corton
Published 2020-08-01

Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations...

by Carolina Sanchez-Jimeno, Fiona Blanco-Kelly, Fermina López-Grondona, Rebeca Losada-Del Pozo, Beatriz Moreno, María Rodrigo-Moreno, Elena Martinez-Cayuelas, Rosa Riveiro-Alvarez, María Fenollar-Cortés, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda-Sanchez, Berta Almoguera
Published 2021-08-01

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

by Francisco Martinez-Granero, Fiona Blanco-Kelly, Carolina Sanchez-Jimeno, Almudena Avila-Fernandez, Ana Arteche, Ana Bustamante-Aragones, Cristina Rodilla, Elvira Rodríguez-Pinilla, Rosa Riveiro-Alvarez, Saoud Tahsin-Swafiri, Maria Jose Trujillo-Tiebas, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda-Sanchez, Berta Almoguera
Published 2021-03-01

Correction: CD40: Novel Association with Crohn's Disease and Replication in Multiple Sclerosis Susceptibility

by Fiona Blanco-Kelly, Fuencisla Matesanz, Antonio Alcina, María Teruel, Lina M. Díaz-Gallo, María Gómez-García, Miguel A. López-Nevot, Luis Rodrigo, Antonio Nieto, Carlos Cardeña, Guillermo Alcain, Manuel Díaz-Rubio, Emilio G. de la Concha, Oscar Fernandez, Rafael Arroyo, Javier Martín, Elena Urcelay
Published 2010-01-01

CD40: novel association with Crohn's disease and replication in multiple sclerosis susceptibility.

by Fiona Blanco-Kelly, Fuencisla Matesanz, Antonio Alcina, María Teruel, Lina M Díaz-Gallo, María Gómez-García, Miguel A López-Nevot, Luis Rodrigo, Antonio Nieto, Carlos Cardeña, Guillermo Alcain, Manuel Díaz-Rubio, Emilio G de la Concha, Oscar Fernandez, Rafael Arroyo, Javier Martín, Elena Urcelay
Published 2010-01-01

Correction: Novel Association with Crohn's Disease and Replication in Multiple Sclerosis Susceptibility.

by Fiona Blanco-Kelly, Fuencisla Matesanz, Antonio Alcina, María Teruel, Lina M. Díaz-Gallo, María Gómez-García, Miguel A. López-Nevot, Luis Rodrigo, Antonio Nieto, Carlos Cardeña, Guillermo Alcain, Manuel Díaz-Rubio, Emilio G. de la Concha, Oscar Fernandez, Rafael Arroyo, Javier Martín, Elena Urcelay
Published 2010-01-01

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.

by Berta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, Yichuan Liu, Michael March, Renata Pellegrino, Ryan Golhar, Marta Corton, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Jianguo Zhang, Brendan Keating, Xun Xu, Hakon Hakonarson, Carmen Ayuso
Published 2015-01-01

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.

by Rocio Sanchez-Alcudia, Maria Garcia-Hoyos, Miguel Angel Lopez-Martinez, Noelia Sanchez-Bolivar, Olga Zurita, Ascension Gimenez, Cristina Villaverde, Luciana Rodrigues-Jacy da Silva, Marta Corton, Raquel Perez-Carro, Simona Torriano, Vasiliki Kalatzis, Carlo Rivolta, Almudena Avila-Fernandez, Isabel Lorda, Maria J Trujillo-Tiebas, Blanca Garcia-Sandoval, Maria Isabel Lopez-Molina, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Carmen Ayuso
Published 2016-01-01