Lucia Micale

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 22

Top Venues

Genes

International journal of molecular sciences

Human mutation

European journal of human genetics : EJHG

This page only lists publications with an associated author ORCID identifier.

Publications

Vera Uliana, Enrico Ambrosini, Antonietta Taiani, Sofia Cesarini, Ilenia Rita Cannizzaro, Anna Negrotti, Walter Serra, Gabriele Quintavalle, Lucia Micale, Carmela Fusco, Marco Castori, Davide Martorana, Beatrice Bortesi, Laura Belli, Antonio Percesepe, Francesco Pisani, Valeria Barili
Phenotypic Expansion of Autosomal Dominant LZTR1 -Related Disorders with Special Emphasis on Adult-Onset Features. Genes 15 (7) (2024)
Vera Uliana, Enrico Ambrosini, Antonietta Taiani, Sofia Cesarini, Ilenia Rita Cannizzaro, Anna Negrotti, Walter Serra, Gabriele Quintavalle, Lucia Micale, Carmela Fusco, Marco Castori, Davide Martorana, Beatrice Bortesi, Laura Belli, Antonio Percesepe, Francesco Pisani, Valeria Barili
Phenotypic Expansion of Autosomal Dominant LZTR1 -Related Disorders with Special Emphasis on Adult-Onset Features. Genes 15 (7) (2024)
Vera Uliana, Enrico Ambrosini, Antonietta Taiani, Sofia Cesarini, Ilenia Rita Cannizzaro, Anna Negrotti, Walter Serra, Gabriele Quintavalle, Lucia Micale, Carmela Fusco, Marco Castori, Davide Martorana, Beatrice Bortesi, Laura Belli, Antonio Percesepe, Francesco Pisani, Valeria Barili
Phenotypic Expansion of Autosomal Dominant LZTR1 -Related Disorders with Special Emphasis on Adult-Onset Features. Genes 15 (7) (2024)
Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente, Annamaria Onori, Emanuela Frustaci, Maria Cecilia D'Asdia, Francesco Petrizzelli, Laura Bernardini, Cecilia Mancini, Fiorenza Soli, Dario Cocciadiferro, Daniele Guadagnolo, Gioia Mastromoro, Carolina Putotto, Franco Fontana, Nicola Brunetti-Pierri, Antonio Novelli, Antonio Pizzuti, Bruno Marino, Maria Cristina Digilio, Tommaso Mazza, Bruno Dallapiccola, Victor Luis Ruiz-Perez, Tartaglia Marco, Marco Castori, Alessandro De Luca
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome. European journal of human genetics : EJHG (2023)
Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente, Annamaria Onori, Emanuela Frustaci, Maria Cecilia D'Asdia, Francesco Petrizzelli, Laura Bernardini, Cecilia Mancini, Fiorenza Soli, Dario Cocciadiferro, Daniele Guadagnolo, Gioia Mastromoro, Carolina Putotto, Franco Fontana, Nicola Brunetti-Pierri, Antonio Novelli, Antonio Pizzuti, Bruno Marino, Maria Cristina Digilio, Tommaso Mazza, Bruno Dallapiccola, Victor Luis Ruiz-Perez, Tartaglia Marco, Marco Castori, Alessandro De Luca
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome. European journal of human genetics : EJHG (2023)
Lucia Micale, Carmela Fusco, Grazia Nardella, Giuseppe Biscaglia, Tiziana Latiano, Domenica Gioffreda, Francesca Tavano, Anna Panza, Antonio Merla, Giuseppe Biscaglia, Marco Gentile, Antonello Cuttitta, Marco Castori, Francesco Perri, Anna Latiano
Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene. International journal of molecular sciences 24 (1) (2022)
Lucia Micale, Carmela Fusco, Grazia Nardella, Giuseppe Biscaglia, Tiziana Latiano, Domenica Gioffreda, Francesca Tavano, Anna Panza, Antonio Merla, Giuseppe Biscaglia, Marco Gentile, Antonello Cuttitta, Marco Castori, Francesco Perri, Anna Latiano
Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene. International journal of molecular sciences 24 (1) (2022)
Carmela Fusco, Grazia Nardella, Lucio Di Filippo, Elisabetta Dejana, Davide Cacchiarelli, Antonio Petracca, Lucia Micale, Matteo Malinverno, Marco Castori
Transcriptome Analysis Reveals Altered Expression of Genes Involved in Hypoxia, Inflammation and Immune Regulation in Pdcd10 -Depleted Mouse Endothelial Cells. Genes 13 (6) (2022)
Lucia Micale, Carmela Fusco, Grazia Nardella, Giuseppe Biscaglia, Tiziana Latiano, Domenica Gioffreda, Francesca Tavano, Anna Panza, Antonio Merla, Giuseppe Biscaglia, Marco Gentile, Antonello Cuttitta, Marco Castori, Francesco Perri, Anna Latiano
Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene. International journal of molecular sciences 24 (1) (2022)
Lucia Micale, Carmela Fusco, Grazia Nardella, Giuseppe Biscaglia, Tiziana Latiano, Domenica Gioffreda, Francesca Tavano, Anna Panza, Antonio Merla, Giuseppe Biscaglia, Marco Gentile, Antonello Cuttitta, Marco Castori, Francesco Perri, Anna Latiano
Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene. International journal of molecular sciences 24 (1) (2022)
Lucia Micale, Thomas Foiadelli, Federica Russo, Luigia Cinque, Francesco Bassanese, Matteo Granatiero, Carmela Fusco, Salvatore Savasta, Marco Castori
Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome. Genes 12 (12) (2021)
Rocco Pio Ortore, Maria Pia Leone, Orazio Palumbo, Antonio Petracca, Eleonora Maria Consiglia Trecca, Aurelio D'Ecclesia, Ciro Lucio Vigliaroli, Lucia Micale, Francesco Longo, Salvatore Melchionda, Marco Castori
Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family. Audiology research 11 (3) (2021)
Silvia Majore, Emanuele Agolini, Lucia Micale, Giulia Pascolini, Paolo Zuppi, Dario Cocciadiferro, Silvia Morlino, Matteo Mattiuzzo, Michele Valiante, Marco Castori, Antonio Novelli, Paola Grammatico
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome. Clinical genetics 99 (4) (2021)
Carmela Fusco, Grazia Nardella, Antonio Petracca, Dario Ronchi, Nicola Paciello, Marilena Di Giacomo, Stefano Gambardella, Silvia Lanfranconi, Stefania Zampatti, Leonardo D'Agruma, Lucia Micale, Marco Castori
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants. Clinical genetics 99 (6) (2021)
Carmela Fusco, Massimiliano Copetti, Tommaso Mazza, Luigi Amoruso, Sandra Mastroianno, Grazia Nardella, Vito Guarnieri, Lucia Micale, Leonardo D'Agruma, Marco Castori
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations. Human mutation 40 (11) (2020)
Carmela Fusco, Lucia Micale, Marco Castori
Response to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene. Human mutation 41 (5) (2020)
Carmela Fusco, Grazia Nardella, Bartolomeo Augello, Francesca Boccafoschi, Orazio Palumbo, Luca Fusaro, Angelantonio Notarangelo, Raffaela Barbano, Paola Parrella, Giuseppina Annicchiarico, Carmela De Meco, Lucia Micale, Paolo Graziano, Marco Castori
Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation. International journal of molecular sciences 21 (14) (2020)
Lucia Micale, Silvia Morlino, Annalisa Schirizzi, Emanuele Agolini, Grazia Nardella, Carmela Fusco, Stefano Castellana, Vito Guarnieri, Roberta Villa, Maria Francesca Bedeschi, Paola Grammatico, Antonio Novelli, Marco Castori
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia. Genes 11 (12) (2020)
Silvia Morlino, Annalucia Carbone, Marco Ritelli, Carmela Fusco, Vincenzo Giambra, Grazia Nardella, Angelantonio Notarangelo, Patrizio Panelli, Gianluigi Mazzoccoli, Nicoletta Zoppi, Paola Grammatico, Emma M Wade, Marina Colombi, Marco Castori, Lucia Micale
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis. Human mutation 40 (10) (2019)
Lucia Micale, Vito Guarnieri, Bartolomeo Augello, Orazio Palumbo, Emanuele Agolini, Valentina Maria Sofia, Tommaso Mazza, Antonio Novelli, Massimo Carella, Marco Castori
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome. Genes 10 (12) (2019)
Silvia Morlino, Lucia Micale, Marco Ritelli, Marianne Rohrbach, Nicoletta Zoppi, Anthony Vandersteen, Sara Mackay, Emanuele Agolini, Dario Cocciadiferro, Erina Sasaki, Annalisa Madeo, Alessandro Ferraris, Willie Reardon, Maja Di Rocco, Antonio Novelli, Paola Grammatico, Fransiska Malfait, Tommaso Mazza, Alan Hakim, Cecilia Giunta, Marina Colombi, Marco Castori
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap. Clinical genetics 97 (3) (2019)
Pietro Palumbo, Antonio Petracca, Roberto Maggi, Tommaso Biagini, Grazia Nardella, Michele Carmine Sacco, Elia Di Schiavi, Massimo Carella, Lucia Micale, Marco Castori
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway. European journal of human genetics : EJHG 27 (7) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Lucia Micale