ISABEL
LLANO RIVAS
Instituto de Investigación Sanitaria Biocruces Bizkaia
Barakaldo, EspañaPublicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria Biocruces Bizkaia (11)
2023
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Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas
Translational Pediatrics, Vol. 12, Núm. 9, pp. 1715-1724
2022
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RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome
Frontiers in Pediatrics, Vol. 10
2020
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Novel variant in plag1 in a familial case with silver–russell syndrome suspicion
Genes, Vol. 11, Núm. 12, pp. 1-9
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Prenatal and foetal autopsy findings in glutaric aciduria type II
Birth Defects Research, Vol. 112, Núm. 19, pp. 1738-1749
2018
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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
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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
2016
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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
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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1
2015
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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
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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation
Human Mutation, Vol. 36, Núm. 11, pp. 1052-1063
2014
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Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis
Bone, Vol. 59, pp. 122-126