Portal de investigación
Diagnóstico genético de anomalías estructurales fetales mediante secuenciación del genoma completo: rendimiento diagnóstico en contexto prenatal.
Datos básicos
- Código:
- PI22/01127
- Protocolo:
- PI22/01127
- EUDRACT:
- NCT:
- Centro:
- HOSPITAL UNIVERSITARI I POLITÈCNIC LA FE
- Dotación:
- 83.490,00 €
- Año de incio:
- 2023
- Año de finalización:
- 2025
Documentos
- No hay documentos
Participantes
Financiadores - Promotores
Resultados del Ensayo Clínico
Aicardi-Goutieres syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period
Gabaldon-Albero, Alba; (...); Martinez, Francisco
Article. 10.1186/s12969-024-01036-5. 2024
Atypical B-Cell Acute Lymphoblastic Leukemia with iAMP21 in the Context of Constitutional Ring Chromosome 21: A Case Report and Review of the Genetic Insights.
Gil, Jose Vicente; (...); Llop, Marta
Article. 10.3390/ijms26010357. 2025
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.
Trujillano, Laura; (...); Tizzano, Eduardo F
Article. 10.1111/cge.14701. 2025
Characterization of a translocation that disrupts the COL4A5 gene in a girl with Alport syndrome by optical genome mapping
Orellana, Carmen; (...); Diaz, Alvaro
Meeting Abstract. 2024
Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome
Martin-Grau, Carla; (...); Martinez-Castellano, Francisco
Article. 10.1111/cge.14340. 2023
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
Lyon, Gholson J.; (...); Herr-Israel, Ellen
Article. 10.1038/s41431-023-01368-y. 2023
Further evidence of the role of microRNA in schizophrenia: a case report.
Sanjuan-Ortiz, Cecilia; (...); Iranzo-Tatay, Carmen
Article. 10.1097/YPG.0000000000000374. 2024
Genetic characteristics and extracolonic phenotypic manifestations in patients with familiar adenomatous polyposis.
Argumánez V; (...); Pons-Beltrán V
Article. 10.1016/j.gastrohep.2024.502266. 2024
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern
Gabaldon-Albero, Alba; (...); Martinez, Francisco
Article. 10.3390/genes15060802. 2024
New variants expand the neurological phenotype of COQ7 deficiency.
Fabra, Maria Alcazar; (...); Santos-Ocana, Carlos
Article. 10.1002/jimd.12776. 2024
Novel genotypic and phenotypic spectrum of PIGP deficiency associated to multiple congenital anomalies
Martin-Grau, Carla; (...); Martinez, Francisco
Meeting Abstract. 2024
Pancreatic Malformation and Heterotaxy Syndrome Associated With 6q25.1 Haploinsufficiency.
Sufrate-Vergara, Berta; (...); Rodriguez-Lopez, Raquel
Article. 10.1097/MPA.0000000000002473. 2025
Prenatal Genome-Wide Cell-Free DNA Screening: Three Years of Clinical Experience in a Hospital Prenatal Diagnostic Unit in Spain.
Pedrola Vidal, Laia; (...); Orellana Alonso, Carmen
Article. 10.3390/genes15050568. 2024
Triplication of PCDH19 gene as a potential novel disease mechanism associated to epilepsy phenotype resembling loss-of-function mutations
Martinez, Francisco; (...); Gabaldon Albero, Alba
Meeting Abstract. 2024
Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants.
Gabaldón-Albero A; (...); Martínez F
Article. 10.3390/genes15101312. 2024
Utility of Optical Genome Mapping for Accurate Detection and Fine-Mapping of Structural Variants in Elusive Rare Diseases
Orellana, Carmen; (...); Martinez, Francisco
Article. 10.3390/ijms26031244. 2025