Works by Bustamante-Aragones, Ana

Results: 10

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

Published in:

Diagnostics (2075-4418), 2013, v. 3, n. 2, p. 283, doi. 10.3390/diagnostics3020283

By:

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

Publication type:

Article

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

Published in:

PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0153258

By:

Perlado, Sara;
Bustamante-Aragonés, Ana;
Donas, Marta;
Lorda-Sánchez, Isabel;
Plaza, Javier;
Rodríguez de Alba, Marta

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

Detection of a Paternally Inherited Fetal Mutation in Maternal Plasma by the Use of Automated Sequencing.

Published in:

Annals of the New York Academy of Sciences, 2006, v. 1075, n. 1, p. 108, doi. 10.1196/annals.1368.014

By:

BUSTAMANTE‐ARAGONES, ANA;
GARCIA‐HOYOS, MARIA;
RODRIGUEZ DE ALBA, MARTA;
GONZALEZ‐GONZALEZ, CRISTINA;
LORDA‐SANCHEZ, ISABEL;
DIEGO‐ALVAREZ, DAN;
TRUJILLO‐TIEBAS, M. JOSE;
AYUSO, CARMEN;
RAMOS, CARMEN

Publication type:

Article

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

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00188-7

By:

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

Publication type:

Article

Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach.

Published in:

Human Reproduction, 2006, v. 21, n. 4, p. 958, doi. 10.1093/humrep/dei406

By:

Dan Diego-Alvarez;
Carmen Ramos-Corrales;
Maria Garcia-Hoyos;
Ana Bustamante-Aragones;
Diego Cantalapiedra;
Joaquin Diaz-Recasens;
Elena Vallespin-Garcia;
Carmen Ayuso;
Isabel Lorda-Sanchez

Publication type:

Article

Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA.

Published in:

Clinical Case Reports, 2014, v. 2, n. 6, p. 303, doi. 10.1002/ccr3.117

By:

Sanchez‐Jimeno, Carolina;
Bustamante‐Aragonés, Ana;
Infantes‐Barbero, Fernando;
Rodriguez De Alba, Marta;
Ramos, Carmen;
Trujillo‐Tiebas, María Jose;
Lorda‐Sánchez, Isabel

Publication type:

Article

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

Published in:

2021

By:

Perea-Romero, Irene;
Gordo, Gema;
Iancu, Ionut F.;
Del Pozo-Valero, Marta;
Almoguera, Berta;
Blanco-Kelly, Fiona;
Carreño, Ester;
Jimenez-Rolando, Belen;
Lopez-Rodriguez, Rosario;
Lorda-Sanchez, Isabel;
Martin-Merida, Inmaculada;
Pérez de Ayala, Lucia;
Riveiro-Alvarez, Rosa;
Rodriguez-Pinilla, Elvira;
Tahsin-Swafiri, Saoud;
Trujillo-Tiebas, Maria J.;
The ESRETNET Study Group;
Bustamante-Aragones, Ana;
Cardero-Merlo, Rocio;
Fernandez-Sanchez, Ruth

Publication type:

Correction Notice

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

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-81093-y

By:

Perea-Romero, Irene;
Gordo, Gema;
Iancu, Ionut F.;
Del Pozo-Valero, Marta;
Almoguera, Berta;
Blanco-Kelly, Fiona;
Carreño, Ester;
Jimenez-Rolando, Belen;
Lopez-Rodriguez, Rosario;
Lorda-Sanchez, Isabel;
Martin-Merida, Inmaculada;
Pérez de Ayala, Lucia;
Riveiro-Alvarez, Rosa;
Rodriguez-Pinilla, Elvira;
Tahsin-Swafiri, Saoud;
Trujillo-Tiebas, Maria J.;
The ESRETNET Study Group;
Bustamante-Aragones, Ana;
Cardero-Merlo, Rocio;
Fernandez-Sanchez, Ruth

Publication type:

Article

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

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-81093-y

By:

Perea-Romero, Irene;
Gordo, Gema;
Iancu, Ionut F.;
Del Pozo-Valero, Marta;
Almoguera, Berta;
Blanco-Kelly, Fiona;
Carreño, Ester;
Jimenez-Rolando, Belen;
Lopez-Rodriguez, Rosario;
Lorda-Sanchez, Isabel;
Martin-Merida, Inmaculada;
Pérez de Ayala, Lucia;
Riveiro-Alvarez, Rosa;
Rodriguez-Pinilla, Elvira;
Tahsin-Swafiri, Saoud;
Trujillo-Tiebas, Maria J.;
The ESRETNET Study Group;
Bustamante-Aragones, Ana;
Cardero-Merlo, Rocio;
Fernandez-Sanchez, Ruth

Publication type:

Article