Publicaciones en las que colabora con Julián Nevado Blanco (23)

2022

  1. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Frontiers in Genetics, Vol. 13

2021

  1. Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes

    HemaSphere, Vol. 5, Núm. 4

2018

  1. CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

    Genetics in Medicine, Vol. 20, Núm. 8, pp. 882-889

  2. In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype

    Revista Espanola de Cardiologia, Vol. 71, Núm. 7, pp. 545-552

  3. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review

    Clinical Genetics, Vol. 93, Núm. 4, pp. 762-775

2017

  1. Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants

    Clinical Genetics

  2. Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

    PLoS ONE, Vol. 12, Núm. 2

  3. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

    Molecular Genetics and Genomic Medicine, Vol. 5, Núm. 1, pp. 28-39

  4. The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways

    Scientific Reports, Vol. 7

2016

  1. Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 10, pp. 2740-2749

2015

  1. Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 5, pp. 1018-1025

  2. PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

    European Journal of Human Genetics, Vol. 23, Núm. 12, pp. 1615-1626

2014

  1. A new overgrowth syndrome is due to mutations in RNF125

    Human Mutation, Vol. 35, Núm. 12, pp. 1436-1441

  2. Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier

    BMC Medical Genetics, Vol. 15, Núm. 1

  3. New microdeletion and microduplication syndromes: A comprehensive review

    Genetics and Molecular Biology, Vol. 37, Núm. 1 SUPPL. 1, pp. 210-219

2013

  1. A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability

    Gene, Vol. 521, Núm. 1, pp. 82-86

  2. Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples

    American Journal of Medical Genetics, Part A, Vol. 161, Núm. 8, pp. 1950-1960

  3. PLP1 gene analysis in 88 patients with leukodystrophy

    Clinical Genetics, Vol. 84, Núm. 6, pp. 566-571

2012

  1. Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes

    American Journal of Medical Genetics, Part A, Vol. 158 A, Núm. 11, pp. 2963-2968

  2. Prenatal diagnosis and comparative genomic hybridization (CGH) -array (I). High risk pregnancies

    Diagnostico Prenatal