Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Emma Colao"'
Autor:
Cristina Politi, Katia Grillone, Donatella Nocera, Emma Colao, Michelle Li Bellisario, Sara Loddo, Giorgia Catino, Antonio Novelli, Nicola Perrotti, Iuliano Rodolfo, Paola Malatesta
Publikováno v:
Genes, Vol 15, Iss 1, p 103 (2024)
The translocation of the testis-determining factor, the SRY gene, from the Y to the X chromosome is a rare event that causes abnormalities in gonadal development. In all cases of males and females carrying this translocation, disorder of sex developm
Externí odkaz:
https://doaj.org/article/be3050f9c2b14a4ba11776254b0f8303
Autor:
Lucia D’Antona, Rosario Amato, Carolina Brescia, Valentina Rocca, Emma Colao, Rodolfo Iuliano, Bonnie L. Blazer-Yost, Nicola Perrotti
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 6, p 5276 (2023)
Over the years, several studies have shown that kinase-regulated signaling pathways are involved in the development of rare genetic diseases. The study of the mechanisms underlying the onset of these diseases has opened a possible way for the develop
Externí odkaz:
https://doaj.org/article/547350cd22ef4cb7b51f6e6421573025
Autor:
Maria Carmela Zagari, Paola Chiarello, Stefano Iuliano, Lucia D’Antona, Valentina Rocca, Emma Colao, Nicola Perrotti, Francesca Greco, Rodolfo Iuliano, Antonio Aversa
Publikováno v:
Genes, Vol 14, Iss 1, p 80 (2022)
Loss of function mutations in the PHEX gene could determine X-linked dominant hypophosphatemia. This is the most common form of genetic rickets. It is characterized by renal phosphate wasting determining an increase in fibroblast growth factor 23 (FG
Externí odkaz:
https://doaj.org/article/c47ccfed11744733bf356ddd3b432953
Autor:
Francesco Paduano, Fernanda Fabiani, Emma Colao, Francesco Trapasso, Nicola Perrotti, Vito Barbieri, Francesco Baudi, Rodolfo Iuliano
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Li–Fraumeni syndrome (LFS) is an inherited autosomal dominant disease characterized by a predisposition to many cancers. Germline pathogenic variants in TP53 are primarily responsible for LFS. By performing a targeted sequencing panel in a proband
Externí odkaz:
https://doaj.org/article/e037c0bbe8d04381a7b47587a8766635
Autor:
Francesco Paduano, Emma Colao, Fernanda Fabiani, Valentina Rocca, Francesca Dinatolo, Adele Dattola, Lucia D’Antona, Rosario Amato, Francesco Trapasso, Francesco Baudi, Nicola Perrotti, Rodolfo Iuliano
Publikováno v:
Genes, Vol 13, Iss 7, p 1286 (2022)
Germline pathogenic variants (PVs) in oncogenes and tumour suppressor genes are responsible for 5 to 10% of all diagnosed cancers, which are commonly known as hereditary cancer predisposition syndromes (HCPS). A total of 104 individuals at high risk
Externí odkaz:
https://doaj.org/article/0ef07f245a2b45989bd48a6f89cde17a
Autor:
Valentina Bruni, Cristina Barbara Spoleti, Andrea La Barbera, Vincenzo Dattilo, Emma Colao, Carmela Votino, Emanuele Bellacchio, Nicola Perrotti, Sabrina Giglio, Rodolfo Iuliano
Publikováno v:
Genes, Vol 12, Iss 9, p 1395 (2021)
Achondrogenesis type II (ACG2) is a lethal skeletal dysplasia caused by dominant pathogenic variants in COL2A1. Most of the variants found in patients with ACG2 affect the glycine residue included in the Gly-X-Y tripeptide repeat that characterizes t
Externí odkaz:
https://doaj.org/article/9e4e130e3cfc4da9ac619914a3b7221f
Autor:
Francesco Paduano, Emma Colao, Teresa Grillone, Marco Flavio Michele Vismara, Rosario Amato, Steven Nisticò, Chiara Mignogna, Stefano Dastoli, Fernanda Fabiani, Rossella Zucco, Francesco Trapasso, Nicola Perrotti, Rodolfo Iuliano
Publikováno v:
Genes, Vol 12, Iss 10, p 1503 (2021)
Epidermolysis bullosa simplex is a disease that belongs to a group of genodermatoses characterised by the formation of superficial bullous lesions caused by minor mechanical trauma to the skin. The skin fragility observed in the EBS is mainly caused
Externí odkaz:
https://doaj.org/article/656d9be5d07240619c31520432efdab8
Autor:
Francesco Paduano, Emma Colao, Sara Loddo, Valeria Orlando, Francesco Trapasso, Antonio Novelli, Nicola Perrotti, Rodolfo Iuliano
Publikováno v:
Genes, Vol 11, Iss 5, p 525 (2020)
Copy number variations (CNVs) play a key role in the pathogenesis of several diseases, including a wide range of neurodevelopmental disorders. Here, we describe the detection of three CNVs simultaneously in a female patient with evidence of severe my
Externí odkaz:
https://doaj.org/article/c0df02f250c149a681821bcae9ec8dcd
Autor:
Marco Favio Michele Vismara, Emma Colao, Fernanda Fabiani, Francesco Bombardiere, Oscar Tamburrini, Caterina Alessio, Francesco Manti, Gerolamo Pelaia, Pasquale Romeo, Rodolfo Iuliano, Nicola Perrotti
Publikováno v:
Respiratory Medicine Case Reports, Vol 16, Iss C, Pp 77-80 (2015)
Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of calcium phosphate gradually accumulate in alveoli. Loss of function mutations in the gene SLC34A2 coding for the sodium phosphate co-transporter (NaPi-IIb) a
Externí odkaz:
https://doaj.org/article/3540632197364db1a4701cc4686b3d95
Autor:
Emma Colao, Teresa Granata, Marco F. M. Vismara, Francesco Bombardiere, Donatella Nocera, Elisa Luciano, Nicola Perrotti, Paola Malatesta
Publikováno v:
Case Reports in Genetics, Vol 2013 (2013)
Objective. To assess aetiology of a POF in a 33-year-old woman and, if possible, plan a cure. Design. Case report. Setting. medical genetics diagnostic unit in a university hospital. Patient. A 33-year-old woman with premature ovarian failure (POF).
Externí odkaz:
https://doaj.org/article/d1b06c628fc54b54812983177795f5ed