Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Giulia Olivucci"'
Autor:
Giulia Olivucci, Emanuela Iovino, Giovanni Innella, Daniela Turchetti, Tommaso Pippucci, Pamela Magini
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
The clinical application of technological progress in the identification of DNA alterations has always led to improvements of diagnostic yields in genetic medicine. At chromosome side, from cytogenetic techniques evaluating number and gross structura
Externí odkaz:
https://doaj.org/article/1824b60ae34e4ed3918ab0901427b3ca
Autor:
Valeria Aiello, Francesca Ciurli, Amalia Conti, Carlotta Pia Cristalli, Sarah Lerario, Francesca Montanari, Nicola Sciascia, Gisella Vischini, Benedetta Fabbrizio, Roberta Di Costanzo, Giulia Olivucci, Andrea Pietra, Antonia Lopez, Loretta Zambianchi, Gaetano La Manna, Irene Capelli
Publikováno v:
Genes, Vol 15, Iss 1, p 3 (2023)
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a late-onset cilia-related disorder, characterized by progressive cystic enlargement of the kidneys. It is genetically heterogeneous with PKD1 and PKD2 pathogenic variants identified in approxim
Externí odkaz:
https://doaj.org/article/548fdae3fa7647dd87598a72e3a90e43
Autor:
Francesca Antonaros, Silvia Lanfranchi, Chiara Locatelli, Anna Martelli, Giulia Olivucci, Elena Cicchini, Ludovica Carosi Diatricch, Elisa Mannini, Beatrice Vione, Agnese Feliciello, Giuseppe Ramacieri, Sara Onnivello, Renzo Vianello, Lorenza Vitale, Maria Chiara Pelleri, Pierluigi Strippoli, Guido Cocchi, Francesca Pulina, Allison Piovesan, Maria Caracausi
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract This work investigates the role of metabolite levels in the intellectual impairment of subjects with Down syndrome (DS). Homocysteine, folate, vitamin B12, uric acid (UA), creatinine levels and MTHFR C677T genotype were analyzed in 147 subje
Externí odkaz:
https://doaj.org/article/0b5d9b06befd4e4b85adbae3dd213846
Autor:
Anna Maria Innoceta, Giulia Olivucci, Giulia Parmeggiani, Emanuela Scarano, Antonella Pragliola, Claudio Graziano
Publikováno v:
Genes, Vol 14, Iss 2, p 258 (2023)
SALL1 heterozygous pathogenic variants cause Townes–Brocks syndrome (TBS), a condition with variable clinical presentation. The main features are a stenotic or imperforate anus, dysplastic ears, and thumb malformations, and other common concerns ar
Externí odkaz:
https://doaj.org/article/03709f448db748dc8e7021698987e85c
Autor:
Renzo Vianello, Francesca Pulina, Silvia Lanfranchi, Ludovica Carosi Diatricch, Elena Cicchini, Elisa Mannini, Giuseppe Ramacieri, Maria Caracausi, Chiara Locatelli, Lorenza Vitale, Guido Cocchi, Pierluigi Strippoli, Sara Onnivello, Allison Piovesan, Anna Martelli, Giulia Olivucci, Maria Chiara Pelleri, Agnese Feliciello, Beatrice Vione, Francesca Antonaros
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
This work investigates the role of metabolite levels in the intellectual impairment of subjects with Down syndrome (DS). Homocysteine, folate, vitamin B12, uric acid (UA), creatinine levels and MTHFR C677T genotype were analyzed in 147 subjects with
Autor:
Maria Chiara Pelleri, Elena Cicchini, Allison Piovesan, Lorenza Vitale, Guido Cocchi, Giulia Olivucci, Francesca Antonaros, Chiara Locatelli, Giuseppe Ramacieri, Maria Caracausi, Pierluigi Strippoli
Publikováno v:
Molecular Genetics & Genomic Medicine
Background: 5,10-Methylentetrahydrofolate reductase (MTHFR) C677T polymorphism is one of the most studied genetic variations in the human genome. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) is one of the most used te
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73acfff201a6537edb99e6745087bb26
http://hdl.handle.net/11585/697659
http://hdl.handle.net/11585/697659