M. J. Trujillo-Tiebas - IIS FJD, UAM

A. Arteche-López, A. Ávila-Fernández,R. Romero, R. Riveiro-Álvarez, M. A. López-Martínez, A. Giménez-Pardo, C. Vélez-Monsalve, J. Gallego-Merlo, I. García-Vara,Berta Almoguera, A. Bustamante-Aragonés,F. Blanco-Kelly,

SCIENTIFIC REPORTS（2021）

引用31浏览0WOSNATURE引用

Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants

J Aguirre-Lamban,R Riveiro-Alvarez,S Maia-Lopes,D Cantalapiedra,E Vallespin,A Avila-Fernandez,C Villaverde-Montero,M J Trujillo-Tiebas,C Ramos,C Ayuso,Enfermedades Raras

BRITISH JOURNAL OF OPHTHALMOLOGY（2010）

引用28浏览0WOS引用

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease

R Riveiro-Alvarez,J Aguirre-Lamban,M Angel Lopez-Martinez,M Jose Trujillo-Tiebas,D Cantalapiedra,E Vallespin,A Avila-Fernandez,C Ramos,C Ayuso

BRITISH JOURNAL OF OPHTHALMOLOGY（2009）

引用41浏览0WOS引用

El síndrome de APERT : Los individuos afectados por el Síndrome de APERT presentan una craneosinóstosis congénita asociada con sindactilia. Esto puede llevar asociado retraso mental leve y alteraciones cardiovasculares, genitourinarias y cutáneas

Maria Jose Trujillo Tiebas, Maria Fenollar Cortes, Monica Martinez Garcia, C Velez Monsalve,Isabel Lorda Sanchez, C Ayus

mag（2009）

引用22浏览0引用

Genotyping microarray for diagnosis in 199 families affected with autosomal recessive retinitis pigmentosa

Almudena Avila-Fernandez,Elena Vallespin,Diego Cantalapiedra,Rosa Riveiro-Alvarez,Jana Aguirre-Lamban,Ascension Gimenez,M. Jose Trujillo-Tiebas,Carmen Ayuso

CELLULAR ONCOLOGY（2007）

引用0浏览0引用

Genotyping microarray for diagnosis in 156 families associated with ABCA4: Specificity and sensibility

Diego Cantalapiedra,Jana Aguirre-Lamban,Rosa Riveiro-Alvarez,Elena Vallespin,Almudena Avila-Fernandez,M. Jose Trujillo-Tiebas,Jesus Gallego,Cristina Villaverde-Montero,Miguel Angel Lopez-Martinez,Diana Valverde,Ayuso Carmen

CELLULAR ONCOLOGY（2007）

引用0浏览0引用

The use of Leber Congenital Amaurosis genotyping microarray in 299 spanish families affected with retinitis pigmentosa

Elena Vallespin,Diego Cantalapiedra,Rosa Riveiro-Alvarez,Jana Aguirre-Lamban,Almudena Avila-Fernandez,Ascension Gimenez,M. Jose Trujillo-Tiebas,Carmen Ramos,Ayuso Carmen

CELLULAR ONCOLOGY（2007）

引用0浏览0引用

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