Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin.

by Sara Perlado, Ana Bustamante-Aragonés, Marta Donas, Isabel Lorda-Sánchez, Javier Plaza, Marta Rodríguez de Alba
Published 2016-01-01

Positive/retained SDHB immunostaining in renal cell carcinomas associated to germline SDHB-deficiency: case report

by Marina Ugarte-Camara, Raul Fernandez-Prado, Isabel Lorda, Gabriela Rossello, Carmen Gonzalez-Enguita, Pablo Cannata-Ortiz, Alberto Ortiz
Published 2019-05-01

Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood

by Maria Jose Trujillo-Tiebas, Laura Horcajada, Marta Ruiz Ramos, Marta Rodriguez de Alba, Javier Plaza, Isabel Lorda-Sanchez, Ana Bustamante-Aragones, Sara Perlado-Marina
Published 2013-05-01

Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies

by Ana Bustamante-Aragones, Sara Perlado-Marina, Maria José Trujillo-Tiebas, Jesús Gallego-Merlo, Isabel Lorda-Sanchez, Luz Rodríguez-Ramirez, Concepcion Linares, Corazón Hernandez, Marta Rodriguez de Alba
Published 2014-08-01

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

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

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

Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

by Irene Perea-Romero, Gema Gordo, Ionut F. Iancu, Marta Del Pozo-Valero, Berta Almoguera, Fiona Blanco-Kelly, Ester Carreño, Belen Jimenez-Rolando, Rosario Lopez-Rodriguez, Isabel Lorda-Sanchez, Inmaculada Martin-Merida, Lucia Pérez de Ayala, Rosa Riveiro-Alvarez, Elvira Rodriguez-Pinilla, Saoud Tahsin-Swafiri, Maria J. Trujillo-Tiebas, The ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group, Blanca Garcia-Sandoval, Pablo Minguez, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso
Published 2021-05-01

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

by Irene Perea-Romero, Gema Gordo, Ionut F. Iancu, Marta Del Pozo-Valero, Berta Almoguera, Fiona Blanco-Kelly, Ester Carreño, Belen Jimenez-Rolando, Rosario Lopez-Rodriguez, Isabel Lorda-Sanchez, Inmaculada Martin-Merida, Lucia Pérez de Ayala, Rosa Riveiro-Alvarez, Elvira Rodriguez-Pinilla, Saoud Tahsin-Swafiri, Maria J. Trujillo-Tiebas, The ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group, Blanca Garcia-Sandoval, Pablo Minguez, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso
Published 2021-01-01

Schuurs–Hoeijmakers Syndrome (<em>PACS1</em> Neurodevelopmental Disorder): Seven Novel Patients and a Review

by Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Irene Valenzuela, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J. Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J. Kaiser, Luis A. Pérez-Jurado, Ángel Carracedo, The ENoD-CIBERER Consortium, The SIDE Consortium, Pablo Lapunzina
Published 2021-05-01