Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5
Martinez-Garcia, Monica, Garcia-Canto, Eva, Fenollar-Cortes, Maria, Aytes, Antonio Perez, Trujillo-Tiebas, María José
Published in Journal of bone and mineral metabolism (01.09.2016)
Published in Journal of bone and mineral metabolism (01.09.2016)
Get full text
Journal Article
Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia
García, Mónica Martínez, Velez, Camilo, Fenollar-Cortés, María, Bustamante, Ana, Lorda-Sanchez, Isabel, Soriano-Guillén, Leandro, Trujillo-Tiebas, María-José
Published in American journal of medical genetics. Part A (01.04.2014)
Published in American journal of medical genetics. Part A (01.04.2014)
Get full text
Journal Article
C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration
Gómez-Tortosa, Estrella, Gallego, Jesús, Guerrero-López, Rosa, Marcos, Alberto, Gil-Neciga, Eulogio, Sainz, María José, Díaz, Asunción, Franco-Macías, Emilio, Trujillo-Tiebas, María José, Ayuso, Carmen, Pérez-Pérez, Julián
Published in Neurology (22.01.2013)
Published in Neurology (22.01.2013)
Get more information
Journal Article
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies
Iancu, Ionut-Florin, Perea-Romero, Irene, Núñez-Moreno, Gonzalo, de la Fuente, Lorena, Romero, Raquel, Ávila-Fernandez, Almudena, Trujillo-Tiebas, María José, Riveiro-Álvarez, Rosa, Almoguera, Berta, Martín-Mérida, Inmaculada, Del Pozo-Valero, Marta, Damián-Verde, Alejandra, Cortón, Marta, Ayuso, Carmen, Minguez, Pablo
Published in International journal of molecular sciences (01.08.2022)
Published in International journal of molecular sciences (01.08.2022)
Get full text
Journal Article
Non-invasive prenatal diagnosis of single-gene disorders from maternal blood
Bustamante-Aragonés, Ana, Rodríguez de Alba, Marta, Perlado, Sara, Trujillo-Tiebas, María José, Arranz, Javier Plaza, Díaz-Recasens, Joaquín, Troyano-Luque, Juan, Ramos, Carmen
Published in Gene (01.08.2012)
Published in Gene (01.08.2012)
Get full text
Journal Article
A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families
Cuadrado-Corrales, Natividad, Sánchez-Jimeno, Carolina, García, Marta, Escámez, María-José, Illera, Nuria, Hernández-Martín, Angela, Trujillo-Tiebas, María-José, Ayuso, Carmen, Del Rio, Marcela
Published in BMC genetics (29.09.2010)
Published in BMC genetics (29.09.2010)
Get full text
Journal Article
Clinical Exome Sequencing Reveals MKRN3 Pathogenic Variants in Familial and Nonfamilial Idiopathic Central Precocious Puberty
Ortiz-Cabrera, Nelmar Valentina, Riveiro-Álvarez, Rosa, López-Martínez, Miguel Ángel, Pérez-Segura, Pilar, Aragón-Gómez, Isabel, Trujillo-Tiebas, María José, Soriano-Guillén, Leandro
Published in Hormone research in paediatrics (01.01.2017)
Published in Hormone research in paediatrics (01.01.2017)
Get more information
Journal Article
Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report
Carvajal, Nerea, Martínez-García, Mónica, Chagoyen, Monica, Morcillo, Nieves, Pino, Ana, Lorda, I., Trujillo-Tiebas, María José
Published in Gene (15.02.2016)
Published in Gene (15.02.2016)
Get full text
Journal Article
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases
Romero, Raquel, de la Fuente, Lorena, Del Pozo-Valero, Marta, Riveiro-Álvarez, Rosa, Trujillo-Tiebas, María José, Martín-Mérida, Inmaculada, Ávila-Fernández, Almudena, Iancu, Ionut-Florin, Perea-Romero, Irene, Núñez-Moreno, Gonzalo, Damián, Alejandra, Rodilla, Cristina, Almoguera, Berta, Cortón, Marta, Ayuso, Carmen, Mínguez, Pablo
Published in Npj genomic medicine (27.01.2022)
Published in Npj genomic medicine (27.01.2022)
Get full text
Journal Article
Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia
Mencía, Ángeles, García, Marta, García, Eva, Llames, Sara, Charlesworth, Alexandra, de Lucas, Raúl, Vicente, Asunción, Trujillo-Tiebas, María José, Coto, Pablo, Costa, Marta, Vera, Ángel, López-Pestaña, Arantxa, Murillas, Rodolfo, Meneguzzi, Guerrino, Jorcano, José Luis, Conti, Claudio J, Escámez Toledano, María José, del Río Nechaevsky, Marcela
Published in Experimental dermatology (01.04.2016)
Published in Experimental dermatology (01.04.2016)
Get full text
Journal Article
RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients
Lopez-Rodriguez, Rosario, Lantero, Esther, Blanco-Kelly, Fiona, Avila-Fernandez, Almudena, Martin Merida, Inmaculada, del Pozo-Valero, Marta, Perea-Romero, Irene, Zurita, Olga, Jiménez-Rolando, Belén, Swafiri, Saoud Tahsin, Riveiro-Alvarez, Rosa, Trujillo-Tiebas, María José, Carreño Salas, Ester, García-Sandoval, Blanca, Corton, Marta, Ayuso, Carmen
Published in Experimental eye research (01.11.2021)
Published in Experimental eye research (01.11.2021)
Get full text
Journal Article
Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment
Ortiz-Cabrera, Nelmar Valentina, Gavela-Pérez, Teresa, Mejorado-Molano, Francisco Javier, Santillán-Coello, Jessica Mire, Villacampa-Aubá, José Miguel, Trujillo-Tiebas, María José, Soriano-Guillén, Leandro
Published in Anales de Pediatría (01.10.2022)
Published in Anales de Pediatría (01.10.2022)
Get full text
Journal Article
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray
Ávila-Fernández, Almudena, Cantalapiedra, Diego, Aller, Elena, Vallespín, Elena, Aguirre-Lambán, Jana, Blanco-Kelly, Fiona, Corton, M, Riveiro-Álvarez, Rosa, Allikmets, Rando, Trujillo-Tiebas, María José, Millán, José M, Cremers, Frans P M, Ayuso, Carmen
Published in Molecular vision (03.12.2010)
Get full text
Published in Molecular vision (03.12.2010)
Journal Article
The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington’s Disease Patients
Tell-Marti, Gemma, Puig-Butille, Joan Anton, Gimenez-Xavier, Pol, Segu-Roig, Ariadna, Potrony, Miriam, Badenas, Celia, Alvarez, Victoria, Millán, José M., Trujillo-Tiebas, María José, Ramos-Arroyo, María A, Milà, Montserrat, Puig, Susana
Published in Molecular neurobiology (01.07.2017)
Published in Molecular neurobiology (01.07.2017)
Get full text
Journal Article
Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion
Gómez-Tortosa, Estrella, Prieto-Jurczynska, Cristina, Serrano, Soledad, Franco-Macías, Emilio, Olivié, Laura, Gallego, Jesús, Guerrero-López, Rosa, Trujillo-Tiebas, María José, Ayuso, Carmen, García Ruiz, Pedro, Pérez-Pérez, Julián, Sainz, María José
Published in Journal of Alzheimer's disease (26.04.2016)
Published in Journal of Alzheimer's disease (26.04.2016)
Get more information
Journal Article
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH
Blanco-Kelly, Fiona, Palomares, María, Vallespín, Elena, Villaverde, Cristina, Martín-Arenas, Rubén, Vélez-Monsalve, Camilo, Lorda-Sánchez, Isabel, Nevado, Julián, Trujillo-Tiebas, María José, Lapunzina, Pablo, Ayuso, Carmen, Corton, Marta
Published in PloS one (23.02.2017)
Published in PloS one (23.02.2017)
Get full text
Journal Article
Noninvasive prenatal diagnosis of monogenic disorders
Rodríguez de Alba, Marta, Bustamante-Aragonés, Ana, Perlado, Sara, Trujillo-Tiebas, María José, Díaz-Recasens, Joaquín, Plaza-Arranz, Javier, Ramos, Carmen
Published in Expert opinion on biological therapy (01.06.2012)
Published in Expert opinion on biological therapy (01.06.2012)
Get more information
Journal Article
Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families
Fernandez‐San Jose, Patricia, Blanco‐Kelly, Fiona, Corton, Marta, Trujillo‐Tiebas, Maria‐Jose, Gimenez, Ascension, Avila‐Fernandez, Almudena, Garcia‐Sandoval, Blanca, Lopez‐Molina, Maria‐Isabel, Hernan, Inma, Carballo, Miguel, Riveiro‐Alvarez, Rosa, Ayuso, Carmen
Published in Acta ophthalmologica (Oxford, England) (01.02.2015)
Published in Acta ophthalmologica (Oxford, England) (01.02.2015)
Get full text
Journal Article
Holt-Oram syndrome: study of 7 cases
Martínez-García, Mónica, Lorda-Sanchez, Isabel, García-Hoyos, Maria, Ramos, Carmen, Ayuso, Carmen, Trujillo-Tiebas, María José
Published in Medicina clínica (13.11.2010)
Published in Medicina clínica (13.11.2010)
Get more information
Journal Article