Works by Gómez-Manjón, Irene

Results: 9

Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.

Published in:

BioMed Research International, 2018, v. 2018, p. 1, doi. 10.1155/2018/9498140

By:

Gómez-Manjón, Irene;
Moreno-Izquierdo, Ana;
Mayo, Sonia;
Moreno-García, Marta;
Delmiro, Aitor;
Escribano, David;
Fernández-Martínez, F. Javier

Publication type:

Article

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.

Published in:

2022

By:

Gómez-Rodríguez, Maria Jose;
Morales-Conejo, Montserrat;
Arteche-López, Ana;
Sánchez-Calvín, Maria Teresa;
Quesada-Espinosa, Juan Francisco;
Gómez-Manjón, Irene;
Palma-Milla, Carmen;
Lezana-Rosales, Jose Miguel;
Pérez de la Fuente, Ruben;
Martin-Ramos, Maria-Luisa;
Fernández-Guijarro, Manuela;
Moreno-García, Marta;
Alvarez-Mora, Maria Isabel

Publication type:

Case Study

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.

Published in:

Genes, 2021, v. 12, n. 4, p. 560, doi. 10.3390/genes12040560

By:

Arteche-López, Ana;
Gómez Rodríguez, Maria José;
Sánchez Calvin, Maria Teresa;
Quesada-Espinosa, Juan Francisco;
Lezana Rosales, Jose Miguel;
Palma Milla, Carmen;
Gómez-Manjón, Irene;
Hidalgo Mayoral, Irene;
Pérez de la Fuente, Rubén;
Díaz de Bustamante, Arancha;
Darnaude, María Teresa;
Gil-Fournier, Belén;
Ramiro León, Soraya;
Ramos Gómez, Patricia;
Sierra Tomillo, Olalla;
Juárez Rufián, Alexandra;
Arranz Cano, Maria Isabel;
Villares Alonso, Rebeca;
Morales-Pérez, Pablo;
Segura-Tudela, Alejandro

Publication type:

Article

Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 13, p. 7240, doi. 10.3390/ijms25137240

By:

García-López, Marta;
Jiménez-Vicente, Lydia;
González-Jabardo, Raquel;
Dorado, Helena;
Gómez-Manjón, Irene;
Martín, Miguel Ángel;
Ayuso, Carmen;
Arenas, Joaquín;
Gallardo, María Esther

Publication type:

Article

N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6100, doi. 10.3390/ijms24076100

By:

Mayo, Sonia;
Gómez-Manjón, Irene;
Marco-Hernández, Ana Victoria;
Fernández-Martínez, Francisco Javier;
Camacho, Ana;
Martínez, Francisco

Publication type:

Article

CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.

Published in:

2022

By:

Mayo, Sonia;
Gómez-Manjón, Irene;
Fernández-Martínez, Francisco Javier;
Camacho, Ana;
Martínez, Francisco;
Benito-León, Julián

Publication type:

Literature Review

Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5609, doi. 10.3390/ijms22115609

By:

Mayo, Sonia;
Gómez-Manjón, Irene;
Fernández-Martínez, Fco. Javier;
Camacho, Ana;
Martínez, Francisco;
Benito-León, Julián

Publication type:

Article

First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 343, doi. 10.1007/s10048-021-00660-7

By:

Quesada-Espinosa, Juan F.;
Garzón-Lorenzo, Lucía;
Lezana-Rosales, José M.;
Gómez-Rodríguez, María J.;
Sánchez-Calvin, María T.;
Palma-Milla, Carmen;
Gómez-Manjón, Irene;
Hidalgo-Mayoral, Irene;
Pérez de la Fuente, Rubén;
Arteche-López, Ana;
Álvarez-Mora, María I.;
Camacho-Salas, Ana;
Cruz-Rojo, Jaime;
Lázaro-Rodríguez, Irene;
Morales-Conejo, Montserrat;
Nuñez-Enamorado, Noemí;
Bustamante-Aragones, Ana;
Simón de las Heras, Rogelio;
Gomez-Cano, María A.;
Ramos-Gómez, Patricia

Publication type:

Article

First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 591, doi. 10.1002/ajmg.a.61999

By:

Moreno‐García, Marta;
Arteche‐López, Ana Rosa;
Álvarez‐Mora, María Isabel;
Palma Milla, Carmen;
Quesada Espinosa, Juan Francisco;
Lezana Rosales, José Miguel;
Sánchez Calvín, María Teresa;
Gómez Manjón, Irene;
Gómez Rodríguez, María José;
Mendez‐Guerrero, Antonio;
Villarejo‐Galende, Alberto

Publication type:

Article