List of works - Elena Manara

Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema

scientific article published on 29 August 2020

CBFA2T3-GLIS2 fusion transcript is a novel common feature in pediatric, cytogenetically normal AML, not restricted to FAB M7 subtype

scientific article published on 13 February 2013

CREB engages C/EBPδ to initiate leukemogenesis

scientific article published on 27 April 2016

Characterization of children with FLT3-ITD acute myeloid leukemia: a report from the AIEOP AML-2002 study group

scientific article

Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing

scientific article published on 15 October 2020

Epigenetic heterogeneity affects the risk of relapse in children with t(8;21)RUNX1-RUNX1T1-rearranged AML.

scientific article published on 2 February 2018

Expanding the Clinical and Genetic Spectrum of <i>RAB28</i>-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families

scientific article published on 31 December 2020

FOXC2 Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation

scientific article published on 20 July 2020

Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment

scientific article published on 05 May 2020

Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing

scientific article published on 12 June 2015

Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedema

scientific article published on 26 June 2020

Minimal residual disease monitored after induction therapy by RQ-PCR can contribute to tailor treatment of patients with t(8;21) RUNX1-RUNX1T1 rearrangement

scientific article published on 5 December 2014

Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study

scientific article published on 13 June 2019

Segregation Analysis of Rare NRP1 and NRP2 Variants in Families with Lymphedema

scientific article published on 17 November 2020

Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations

scientific article published on 22 October 2020

Sox4 cooperates with CREB in myeloid transformation ⬇️

scientific article published on May 24, 2012

Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome

scientific article published on 18 June 2020

List of works by Elena Manara