Publications by authors named "Elisa Contini"

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Germline Mutation in Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma.
Giuseppina De Filpo, Elisa Contini, Viola Serio, Andrea Valeri, Massimiliano Chetta

Int J Endocrinol· May 2020

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Characteristics and clinical correlates of NFE2 mutations in chronic Myeloproliferative neoplasms.
Paola Guglielmelli, Annalisa Pacilli, Giacomo Coltro, Francesco Mannelli, Lara Mannelli, Elisa Contini

Am J Hematol· January 2020

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Long Reads, Short Time: Feasibility of Prenatal Sample Karyotyping by Nanopore Genome Sequencing.
Niccolò Bartalucci, Simone Romagnoli, Elisa Contini, Giuseppina Marseglia, Alberto Magi

Clin Chem· December 2019

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Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Francesco Mazzarotto, Francesca Girolami, Beatrice Boschi, Fausto Barlocco, Alessia Tomberli, Elisa Contini

Genet Med· February 2019

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Mutation landscape in patients with myelofibrosis receiving ruxolitinib or hydroxyurea.
Annalisa Pacilli, Giada Rotunno, Carmela Mannarelli, Tiziana Fanelli, Alessandro Pancrazzi, Elisa Contini

Blood Cancer J· November 2018

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Fundus phenotype in retinitis pigmentosa associated with EYS mutations.
Dario Pasquale Mucciolo, Andrea Sodi, Ilaria Passerini, Vittoria Murro, Francesca Cipollini, Elisa Contini

Ophthalmic Genet· October 2018

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Mutated and number of somatic mutations as possible indicators of progression to chronic myelomonocytic leukemia of myelodysplastic syndromes with single or multilineage dysplasia.
Ana Valencia-Martinez, Alessandro Sanna, Erico Masala, Elisa Contini, Alice Brogi

Haematologica· September 2017

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Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System.
Francesca Gerundino, Claudia Giachini, Elisa Contini, Matteo Benelli, Giuseppina Marseglia

J Matern Fetal Neonatal Med· March 2017

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A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.
Elisa Contini, Irene Paganini, Roberta Sestini, Luisa Candita, Gabriele Lorenzo Capone

PLoS One· April 2016

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Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication.
Carla Marini, Antonella Cecconi, Elisa Contini, Marilena Pantaleo, Tiziana Metitieri

Am J Med Genet A· June 2013

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Growth hormone therapy-related hyperglycaemia in a boy with renal cystic hypodysplasia and a new mutation of the HNF1 beta gene.
Sabrina Giglio, Elisa Contini, Sonia Toni, Ivana Pela

Nephrol Dial Transplant· September 2010

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