Publicaciones (28) Publicaciones de ISABEL LLANO RIVAS

2023

  1. Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas

    Translational Pediatrics, Vol. 12, Núm. 9, pp. 1715-1724

  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. Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?

    Frontiers in Genetics, Vol. 14

2022

  1. Ampliando el diagnóstico de las manchas café con leche

    Piel, Vol. 37, Núm. 1, pp. 59-60

  2. Clinical utility of genetic testing in early-onset kidney disease: Seven genes are the main players

    Nephrology Dialysis Transplantation, Vol. 37, Núm. 4, pp. 687-696

  3. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Genetics in Medicine, Vol. 24, Núm. 11, pp. 2351-2366

  4. Novel APOB mutation in familial hypobetalipoproteinemia

    Journal of Clinical Lipidology, Vol. 16, Núm. 1, pp. 28-32

  5. RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome

    Frontiers in Pediatrics, Vol. 10

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

  2. Novel variant in plag1 in a familial case with silver–russell syndrome suspicion

    Genes, Vol. 11, Núm. 12, pp. 1-9

  3. Prenatal and foetal autopsy findings in glutaric aciduria type II

    Birth Defects Research, Vol. 112, Núm. 19, pp. 1738-1749

2019

  1. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

    American Journal of Human Genetics, Vol. 104, Núm. 4, pp. 721-730

2018

  1. A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases

    Kidney International, Vol. 94, Núm. 2, pp. 363-371

  2. Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: A case report 06 Biological Sciences 0604 Genetics

    BMC Medical Genomics, Vol. 11, Núm. 1

  3. Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2457-2467

2016

  1. Interaction between a domain of the negative regulator of the ras-ERK pathway, SPRED1 protein, and the GTPase-activating protein-related domain of neurofibromin is implicated in legius syndrome and neurofibromatosis type 1

    Journal of Biological Chemistry, Vol. 291, Núm. 7, pp. 3124-3134

  2. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

    Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1

2015

  1. Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 9, pp. 2034-2041