Elena Nicolis
Verona, Italy
Last Updated: 09/26/2026
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Found 10 publications
A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome.
Journal: The Journal of pediatrics
Published: July 10, 2019
Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old.
Journal: BMJ open
Published: February 21, 2019
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.
Journal: British journal of haematology
Published: September 11, 2018
Peripheral blood immunophenotyping in a large cohort of patients with Shwachman-Diamond syndrome.
Journal: Pediatric blood & cancer
Published: July 18, 2018
β-Sitosterol Reduces the Expression of Chemotactic Cytokine Genes in Cystic Fibrosis Bronchial Epithelial Cells.
Journal: Frontiers in pharmacology
Published: November 28, 2016
Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients.
Journal: Blood cells, molecules & diseases
Published: May 26, 2016
Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach.
Journal: NeuroImage. Clinical
Published: April 22, 2014
Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome.
Journal: British journal of haematology
Published: February 04, 2014
Effects of decoy molecules targeting NF-kappaB transcription factors in Cystic fibrosis IB3-1 cells: recruitment of NF-kappaB to the IL-8 gene promoter and transcription of the IL-8 gene.
Journal: Artificial DNA, PNA & XNA
Published: July 10, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026