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Your search keyword '"Marconi, Caterina"' showing total 8 results
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8 results on '"Marconi, Caterina"'

2. Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis

Author

Marconi, Caterina, primary, Lemmens, Laure, additional, Masclaux, Frédéric, additional, Mattioli, Francesca, additional, Fluss, Joël, additional, Extermann, Philippe, additional, Mendez, Purificacion, additional, Leuchter, Russia Ha‐Vinh, additional, Stathaki, Elissavet, additional, Laurent, Sacha, additional, Hammar, Eva, additional, Vannier, Anne, additional, Varvagiannis, Konstantinos, additional, Guipponi, Michel, additional, Sloan‐Bena, Frédérique, additional, Blouin, Jean‐Louis, additional, Abramowicz, Marc, additional, and Fokstuen, Siv, additional

Published
2021
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3. SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus

Author

Bisulli, Francesca, primary, Licchetta, Laura, additional, Baldassari, Sara, additional, Muccioli, Lorenzo, additional, Marconi, Caterina, additional, Cantalupo, Gaetano, additional, Myers, Candace, additional, Menghi, Veronica, additional, Minardi, Raffaella, additional, Caporali, Leonardo, additional, Marini, Carla, additional, Guerrini, Renzo, additional, Mefford, Heather C., additional, Tinuper, Paolo, additional, and Pippucci, Tommaso, additional

Published
2019
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4. ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia

Author

Faleschini, Michela, primary, Melazzini, Federica, additional, Marconi, Caterina, additional, Giangregorio, Tania, additional, Pippucci, Tommaso, additional, Cigalini, Elena, additional, Pecci, Alessandro, additional, Bottega, Roberta, additional, Ramenghi, Ugo, additional, Siitonen, Timo, additional, Seri, Marco, additional, Pastore, Annalisa, additional, Savoia, Anna, additional, and Noris, Patrizia, additional

Published
2018
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6. Mutations ofRUNX1in families with inherited thrombocytopenia

Author

De Rocco, Daniela, primary, Melazzini, Federica, additional, Marconi, Caterina, additional, Pecci, Alessandro, additional, Bottega, Roberta, additional, Gnan, Chiara, additional, Palombo, Flavia, additional, Giordano, Paola, additional, Coccioli, Maria Susanna, additional, Glembotsky, Ana C., additional, Heller, Paula G., additional, Seri, Marco, additional, Savoia, Anna, additional, and Noris, Patrizia, additional

Published
2017
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7. FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype

Author

GARONE, CATERINA, primary, PIPPUCCI, TOMMASO, additional, CORDELLI, DUCCIO M, additional, ZUNTINI, ROBERTA, additional, CASTEGNARO, GIOVANNI, additional, MARCONI, CATERINA, additional, GRAZIANO, CLAUDIO, additional, MARCHIANI, VALENTINA, additional, VERROTTI, ALBERTO, additional, SERI, MARCO, additional, and FRANZONI, EMILIO, additional

Published
2011
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8. ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia

Author

Caterina Marconi, Marco Seri, Roberta Bottega, Annalisa Pastore, Michela Faleschini, Federica Melazzini, Elena Cigalini, Tania Giangregorio, Alessandro Pecci, Tommaso Pippucci, Patrizia Noris, Ugo Ramenghi, Anna Savoia, Timo Siitonen, Faleschini, Michela, Melazzini, Federica, Marconi, Caterina, Giangregorio, Tania, Pippucci, Tommaso, Cigalini, Elena, Pecci, Alessandro, Bottega, Roberta, Ramenghi, Ugo, Siitonen, Timo, Seri, Marco, Pastore, Annalisa, Savoia, Anna, and Noris, Patrizia

Subjects
Adult, Blood Platelets, Male, 0301 basic medicine, medicine.medical_specialty, Erythrocytes, Platelet Aggregation, DNA Mutational Analysis, Autosomal dominant macrothrombocytopenia, Mutation, Missense, Erythrocytes, Abnormal, thrombocytopenia, Macrocytosis, Disease, 03 medical and health sciences, 0302 clinical medicine, ACTN1-related thrombocytopenia, ACTN1 gene, macrocytosis, mutations, Actinin, Aged, Blood Cell Count, Child, Female, Hematologic Diseases, Humans, Middle Aged, Pedigree, Thrombocytopenia, Mutation, Internal medicine, medicine, OMIM : Online Mendelian Inheritance in Man, Missense mutation, Gene, macrocytosi, Hematology, business.industry, medicine.disease, 030104 developmental biology, Immunology, Cohort, Abnormal, Missense, mutation, business, 030215 immunology
Abstract

The inherited thrombocytopenias (IT) are a heterogeneous group of diseases resulting from mutations in more than 30 different genes. Among them, ACTN1-related thrombocytopenia (ACTN1-RT; Online Mendelian Inheritance in Man: 615193) is one of the most recently identified forms. It has been described as a mild autosomal dominant macrothrombocytopenia caused by mutations in ACTN1, a gene encoding for one of the two non-muscle isoforms of alpha-actinin. We recently identified seven new unrelated families with ACTN1-RT caused by different mutations. Two of them are novel missense variants (p.Trp128Cys and p.Pro233Leu), whose pathogenic role has been confirmed by in vitro studies. Together with the 10 families we have previously described, our cohort of ACTN1-RT now consists of 49 individuals carrying ACTN1 mutations. This is the largest case series ever collected and enabled a critical evaluation of the clinical aspects of the disease. We concluded that ACTN1-RT is the fourth most frequent form of IT worldwide and it is characterized by platelet macrocytosis in all affected subjects and mild thrombocytopenia in less than 80% of cases. The risk of bleeding, either spontaneous or upon haemostatic challenge, is negligible and there are no other associated defects, either congenital or acquired. Therefore, ACTN1-RT is a benign form of IT, whose diagnosis provides affected individuals and their families with a good prognosis.

Published
2018

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