Portal de recerca
Contrato Post FSE (Rio Hortega).
Dades bàsiques
- Protocol:
- CM19/00181
- EURDRACT:
- NCT:
- Centre:
- HOSPITAL UNIVERSITARI I POLITÈCNIC LA FE
- Any inici:
- 2020
- Any de finalització:
- 2022
Documents
- No hi ha documents
Participants
Grups d'Investigació
Finançadors - Promotors
Resultats de l'Assaig Clínic
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab
Martinez-Matilla, Marina; (...); Pedrola, Laia
Letter. 10.1016/j.pediatrneurol.2020.07.011. 2020
Autosomal recessive woolly hair and hypotrichosis in two Caucasian dizygotic twins. Description of a novel biallelic mutation in the LPAR6 gene.
Piquer-García J; (...); Évole-Buselli M
Letter. 10.1111/ijd.15207. 2020
Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature
Mayo, S; (...); Benito-Leon, J
Review. 10.3390/ijms22115609. 2021
Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature.
Marco Hernández AV; (...); Martinez F
Case Reports. 10.3389/fneur.2021.784892. 2021
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy
Mayo S; (...); Benito-León J
Article. 10.3390/ijms23094879. 2022
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
Krab, LC; (...); Hennekam, RC
Article. 10.1007/s00439-020-02138-2. 2020
Derivation of healthy hepatocyte-like cells from a female patient with ornithine transcarbamylase deficiency through X-inactivation selection.
Santamaria R; (...); Bort R
Article. 10.1038/s41598-022-06184-w. 2022
Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability
Marco Hernández AV; (...); Martínez F
Article. 10.1002/ajmg.a.62507. 2021
Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development.
Marco-Hernandez, Ana Victoria; (...); Martinez, Francisco
Article. 10.1177/08830738211072694. 2022
Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders
Kegele J; (...); Lauxmann S
Article. 10.3389/fneur.2021.701351. 2021
Germline variant in Ctcf links mental retardation to Wilms tumor predisposition
Gargallo, Pablo; (...); Font de Mora, Jaime
Article. 10.1038/s41431-022-01105-x. 2022
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder
Latypova, Xenia; (...); Isidor, Bertrand
Article. 10.1016/j.ajhg.2021.03.017. 2021
Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing.
Rosello M; (...); Tomás M
Review. 10.1038/s41390-020-01250-3. 2020
Megalencephalic leukoencephalopathy with cysts -the clinical importance in the genetic era
Ballesteros-Cogollos V; (...); Martínez-Castellano F
Article. 10.33588/rn.7110.2020520. 2020
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.
Marco-Hernández AV; (...); Martínez-Castellano F
Article. 10.1111/cge.14093. 2022
Molecular characterisation of Spanish patients with MECP2 duplication syndrome.
Pascual-Alonso A; (...); Armstrong J
Article. 10.1111/cge.13718. 2020
Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia.
Moreno Macián F; (...); Albiach Mesado V
Article. 10.1515/jpem-2020-0168. 2020
PIGN encephalopathy: Characterizing the epileptology.
Bayat A; (...); Sadleir LG
Article. 10.1111/epi.17173. 2022
Prevalence of pathogenic copy number variants among children conceived by donor oocyte.
Monfort, Sandra; (...); Martinez, Francisco
Article. 10.1038/s41598-021-86242-x. 2021
Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome
Alvarez-Mora, MI; (...); Rodriguez-Revenga, L
Article. 10.1016/j.mito.2020.03.004. 2020
Secuelas neurológicas en pacientes con infección congénita por citomegalovirus.
de Juan Gallach A; (...); Tomás Vila M
Article. 10.1016/j.anpedi.2019.12.021. 2020
The LINCE Project: A Pathway for Diagnosing NCL2 Disease.
Rodrigues, Daniel; (...); Colon, Cristobal
Article. 10.3389/fped.2022.876688. 2022
Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation
Nieto-Barcelo, Juan Jose; (...); Tomas Vila, Miguel
Article. 10.1055/s-0041-1723958. 2021
Venous sinus thrombosis in pediatrics. Case series of a tertiary hospital.
Rubio Atienza Y; (...); Tomás Vila M
Article. 10.32641/andespediatr.v92i3.3344. 2021