Publicaciones (30) Publicaciones de Pablo Prieto Matos

2024

  1. PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients

    Child's Nervous System

2023

  1. Adaptation, reliability and validity of health-related quality of life questionnaires: Disabkids chronic and specific diabetes disease in children and adolescents with diabetes mellitus type 1

    Endocrinologia, Diabetes y Nutricion, Vol. 70, pp. 18-26

  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. Crisis neonatales y evolución a epilepsia en un hospital de tercer nivel

    Revista de neurologia, Vol. 77, Núm. 10, pp. 249-252

  4. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973

  5. Immune stress suppresses innate immune signaling in preleukemic precursor B-cells to provoke leukemia in predisposed mice

    Nature Communications, Vol. 14, Núm. 1

  6. Lessons from mouse models in the impact of risk factors on the genesis of childhood B-cell leukemia

    Frontiers in Immunology

  7. Rango normal de subunidad ácido-lábil (ALS) en niños españoles y su relación con la edad, el sexo, el estadio puberal y otros factores de crecimiento

    Anales de Pediatria, Vol. 98, Núm. 5, pp. 329-337

2022

  1. Childhood B-Cell Preleukemia Mouse Modeling

    International Journal of Molecular Sciences, Vol. 23, Núm. 14

  2. Electrocardiogram and pre-sport screening in children

    Pediatria de Atencion Primaria, Vol. 24, Núm. 93, pp. e27-e35

  3. Transient Inhibition of the JAK/STAT Pathway Prevents B-ALL Development in Genetically Predisposed Mice

    Cancer research, Vol. 82, Núm. 6, pp. 1098-1109

2021

  1. Cáncer de tiroides en pediatría

    Revista ORL, Vol. 12, Vol. 4, pp. 303-312

  2. Nódulo tiroideo en el niño

    Revista ORL, Vol. 12, Vol. 4, pp. 353-358

  3. The Second Oncogenic Hit Determines the Cell Fate of ETV6-RUNX1 Positive Leukemia

    Frontiers in Cell and Developmental Biology, Vol. 9

2020

  1. Enuresis nocturna: una propuesta para optimizar su manejo

    Acta pediátrica española, Vol. 78, Núm. 3, pp. 33-38

2018

  1. Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes

    Journal of the American College of Cardiology, Vol. 71, Núm. 3, pp. 279-288

  2. Autosomal recessive hypercholesterolemia in Spain

    Atherosclerosis, Vol. 269, pp. 1-5

  3. Clinical response to growth hormone in children with intrauterine growth retardation without catch-up growth in Castilla y León (Spain)

    Endocrinologia, Diabetes y Nutricion, Vol. 65, Núm. 10, pp. 584-591

  4. Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

    Clinical Endocrinology, Vol. 88, Núm. 6, pp. 820-829

2017

  1. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia

    Clinical Genetics, Vol. 92, Núm. 1, pp. 91-98