Publications by authors named "Emma Colao"

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Hereditary Transthyretin Amyloidosis: Genetic Characterization of the P.Val142Ile Variant in a Calabrian Kindred.
Francesca Dinatolo, Radha Procopio, Valentina Rocca, Elisa Lo Feudo, Adele Dattola, Emma Colao

Genes (Basel)· August 2025

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Cascade Genetic Testing for Hereditary Cancer Predisposition: Characterization of Patients in a Catchment Area of Southern Italy.
Anna Bilotta, Elisa Lo Feudo, Valentina Rocca, Emma Colao, Francesca Dinatolo

Genes (Basel)· June 2025

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Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.
Valentina Rocca, Elisa Lo Feudo, Francesca Dinatolo, Serena Marianna Lavano, Anna Bilotta, Emma Colao

Curr Issues Mol Biol· November 2024

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Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome.
Cristina Politi, Katia Grillone, Donatella Nocera, Emma Colao, Michelle Li Bellisario

Genes (Basel)· January 2024

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Kinase Inhibitors in Genetic Diseases.
Lucia D'Antona, Rosario Amato, Carolina Brescia, Valentina Rocca, Emma Colao

Int J Mol Sci· March 2023

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The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults.
Maria Carmela Zagari, Paola Chiarello, Stefano Iuliano, Lucia D'Antona, Valentina Rocca, Emma Colao

Genes (Basel)· December 2022

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Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.
Francesco Paduano, Emma Colao, Fernanda Fabiani, Valentina Rocca, Francesca Dinatolo

Genes (Basel)· July 2022

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Case Report: Identification of a Novel Pathogenic Germline Variant in a Family With Li-Fraumeni Syndrome.
Francesco Paduano, Fernanda Fabiani, Emma Colao, Francesco Trapasso, Nicola Perrotti

Front Genet· September 2021

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A Novel Splicing Variant of in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.
Valentina Bruni, Cristina Barbara Spoleti, Andrea La Barbera, Vincenzo Dattilo, Emma Colao

Genes (Basel)· September 2021

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A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in .
Francesco Paduano, Emma Colao, Teresa Grillone, Marco Flavio Michele Vismara, Rosario Amato

Genes (Basel)· September 2021

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De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Muhammad A Usmani, Zubair M Ahmed, Pamela Magini, Victor Murcia Pienkowski, Kristen J Rasmussen, Emma Colao

Am J Hum Genet· July 2021

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Flavonoid supplements increase neurotrophin activity to modulate inflammation in retinal genetic diseases.
Aysha Karim Kiani, Benedetto Falsini, Lucia Ziccardi, Elena Gusson, Domenica Mangialavori, Emma Colao

Acta Biomed· November 2020

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7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability.
Francesco Paduano, Emma Colao, Sara Loddo, Valeria Orlando, Francesco Trapasso

Genes (Basel)· May 2020

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A novel variant causative of pseudoxanthoma elasticum.
Gianluca Contrò, Rossana Tallerico, Vincenzo Dattilo, Fernanda Fabiani, Maria Vittoria Enzo, Emma Colao

Hum Genome Var· June 2019

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Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.
Francesco Brancati, Letizia Camerota, Emma Colao, Virginia Vega-Warner, Xiangzhong Zhao

Eur J Hum Genet· September 2018

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Internet Use and Access, Behavior, Cyberbullying, and Grooming: Results of an Investigative Whole City Survey of Adolescents.
Marco Flavio Michele Vismara, Joseph Toaff, Giuliana Pulvirenti, Chiara Settanni, Emma Colao

Interact J Med Res· August 2017

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New disease causative mutation of Gitelman's syndrome.
Teresa Grillone, Miranda Menniti, Francesco Bombardiere, Marco Flavio Michele Vismara, Stefania Belviso, Emma Colao

World J Nephrol· November 2016

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The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3.
Marco Favio Michele Vismara, Emma Colao, Fernanda Fabiani, Francesco Bombardiere, Oscar Tamburrini

Respir Med Case Rep· January 2016

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Novel Mutation in the CHRDL1 Gene Detected in Patients With Megalocornea.
Domenica Mangialavori, Emma Colao, Adriano Carnevali, Donatella Bruzzichessi, Teresa Grillone

Cornea· August 2015

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A case of premature ovarian failure in a 33-year-old woman.
Emma Colao, Teresa Granata, Marco F M Vismara, Francesco Bombardiere, Donatella Nocera

Case Rep Genet· March 2013

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Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing.
Stefania Nucara, Emma Colao, Graziella Mangone, Francesco Baudi, Fernanda Fabiani

Dermatol Online J· January 2011

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