Publicacións en colaboración con investigadores/as de Hospital Universitario La Paz (130)

2024

  1. Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

    Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149

  2. Hematopoietic stem cell transplantation in children with chronic granulomatous disease: the Spanish experience

    Frontiers in Immunology, Vol. 15

  3. Identification of copy-number variants in patients with overgrowth disorders

    Clinical Genetics

  4. Pulmonary function and bronchopulmonary dysplasia classification: insights from the Spanish Registry

    European Journal of Pediatrics, Vol. 183, Núm. 9, pp. 3757-3766

  5. Renal Function Impairment in Children With Congenital Cytomegalovirus Infection: A Cross-sectional Study

    The Pediatric infectious disease journal, Vol. 43, Núm. 3, pp. 257-262

  6. Repeated intravenous doses of human umbilical cord-derived mesenchymal stromal cells for bronchopulmonary dysplasia: results of a phase 1 clinical trial with 2-year follow-up

    Cytotherapy, Vol. 26, Núm. 6, pp. 632-640

  7. Transcultural adaptation and validation of IMPACT-III and IMPACT-III-P in Spanish families: a multicenter study from SEGHNP

    European Journal of Pediatrics, Vol. 183, Núm. 8, pp. 3417-3430

2023

  1. Adenovirus Infection in Hematopoietic and Solid Organ Paediatric Transplant Recipients: Treatment, Outcomes, and Use of Cidofovir

    Microorganisms, Vol. 11, Núm. 7

  2. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

    Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654

  3. Coeliac Disease Case–Control Study: Has the Time Come to Explore beyond Patients at Risk?

    Nutrients, Vol. 15, Núm. 5

  4. Dual latent tuberculosis screening with tuberculin skin tests and QuantiFERON-TB assays before TNF-α inhibitor initiation in children in Spain

    European Journal of Pediatrics, Vol. 182, Núm. 1, pp. 307-317

  5. Failure of early non-invasive ventilation in preterm infants with respiratory distress syndrome in current care practice in Spanish level-III neonatal intensive care units – a prospective observational study

    Frontiers in Pediatrics, Vol. 11

  6. Influencia de la pandemia de la COVID-19 en la distribución de la bronquiolitis aguda en España

    Revista Espanola de Salud Publica, Vol. 97

  7. Morbidity and Mortality of Very-Low-Birthweight Twin Infants according to Their Sex and the Sex of the Co-Twin: A Retrospective Cohort Study

    Neonatology

  8. Nutrition in congenital heart disease: Consensus document

    Anales de Pediatria, Vol. 98, Núm. 5, pp. 373-383

  9. Short- and long-term survival of children treated with ventricular assist devices in Spain, based on 15 years' experience

    European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery, Vol. 63, Núm. 2

  10. Treosulfan-Based Conditioning Regimen In Pediatric Hematopoietic Stem Cell Transplantation: A Retrospective Analysis on Behalf of the Spanish Group for Hematopoietic Transplantation and Cellular Therapy (GETH-TC)

    Transplantation and Cellular Therapy, Vol. 29, Núm. 11, pp. 702.e1-702.e11

  11. Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study

    Neurology and Therapy, Vol. 12, Núm. 1, pp. 89-105

  12. “Geographical distribution of risk genotypes in pediatric patients with celiac disease in Spain”

    Human Immunology, Vol. 84, Núm. 4, pp. 290-295

2022

  1. Correlation of Anti-Tissue Transglutaminase Antibodies With the Mucosal Changes and IgA Status of Children With Celiac Disease

    Journal of pediatric gastroenterology and nutrition, Vol. 75, Núm. 6, pp. 743-748