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Children (Basel, Switzerland)|March 28, 2025
A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 VariantClaudia Santoro, Francesca Aiello, Antonella Farina, et al.
Circulation Research|June 25, 2005
In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarctionRuggiero Mango, Silvia Biocca, Francesca del Vecchio, et al.
Clinical Chemistry|September 8, 2011
Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disordersGiulio Piluso, Manuela Dionisi, Francesca Del Vecchio Blanco, et al.
Iscience|October 25, 2022
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cellsEmanuela Marchese, Marianna Caterino, Davide Viggiano, et al.
Clinical Kidney Journal|June 4, 2021
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patientsMiriam Zacchia, Francesca Del Vecchio Blanco, Annalaura Torella, et al.
Genes|March 29, 2023
Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV NephropathiesMiriam Zacchia, Giovanna Capolongo, Francesca Del Vecchio Blanco, et al.
Journal of Nephrology|May 8, 2021
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutationMiriam Zacchia, Francesca Del Vecchio Blanco, Francesco Trepiccione, et al.
Genes|August 3, 2019
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous DisordersTeresa Giugliano, Claudia Santoro, Annalaura Torella, et al.
Hormone Research in Paediatrics|October 27, 2016
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short StatureAnna Grandone, Francesca Del Vecchio Blanco, Annalaura Torella, et al.
Nature Communications|May 15, 2023
RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndromeIrene Sambri, Marco Ferniani, Giulia Campostrini, et al.
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