Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Enrica Marchionni"'
Autor:
Enrica Marchionni, Maria Rosaria D'Apice, Viviana Lupo, Giovanna Lattanzi, Elisabetta Mattioli, Gina Lisignoli, Elena Gabusi, Gerardo Pepe, Manuela Helmer Citterich, Elena Campione, Anna Maria Nardone, Paola Spitalieri, Noemi Pucci, Dario Cocciadiferro, Eliseo Picchi, Francesco Garaci, Antonio Novelli, Giuseppe Novelli
Publikováno v:
Bone Reports, Vol 19, Iss , Pp 101728- (2023)
COL2A1 gene encodes the alpha-1 chain of type-II procollagen. Heterozygous pathogenic variants are associated with the broad clinical spectrum of genetic diseases known as type-II collagenopathies. We aimed to characterize the NM_001844.5:c.1330G>A;p
Externí odkaz:
https://doaj.org/article/7aab59cb6a3344baa1cce4c1308ebddc
Autor:
Daniele Guadagnolo, Gioia Mastromoro, Enrica Marchionni, Aldo Germani, Fabio Libi, Soha Sadeghi, Camilla Savio, Simona Petrucci, Laura De Marchis, Maria Piane, Antonio Pizzuti
Publikováno v:
Biomedicines, Vol 11, Iss 7, p 2062 (2023)
Germline pathogenic variants (PVs) in the Ataxia Telangiectasia mutated (ATM) gene (MIM* 607585) increase the risk for breast, pancreatic, gastric, and prostatic cancer and, to a reduced extent, ovarian and colon cancer and melanoma, with moderate pe
Externí odkaz:
https://doaj.org/article/255bb07012884511b695345d641ba024
Autor:
Marcella Nebbioso, Federica Franzone, Alessandro Lambiase, Maurizio La Cava, Fabiana Mallone, Antonio Pizzuti, Enrica Marchionni
Publikováno v:
BMC Ophthalmology, Vol 21, Iss 1, Pp 1-8 (2021)
Abstract Background Retinitis Pigmentosa (RP) is the most frequent retinal hereditary disease and every kind of transmission pattern has been described. The genetic etiology of RP is extremely heterogeneous and in the last few years the large applica
Externí odkaz:
https://doaj.org/article/35ee796290354eeba55c0a9cc7511b9e
Autor:
Francesca Di Lorenzo, Enrica Marchionni, Valentina Ferradini, Andrea Latini, Laura Pezzoli, Annamaria Martino, Fabiana Romeo, Annamaria Iorio, Stefano Bianchi, Maria Iascone, Leonardo Calò, Giuseppe Novelli, Ruggiero Mango, Federica Sangiuolo
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 3, p 2490 (2023)
Variants in desmoplakin gene (DSP MIM *125647) have been usually associated with Arrhythmogenic Cardiomyopathy (ACM), or Dilated Cardiomyopathy (DCM) inherited in an autosomal dominant manner. A cohort of 18 probands, characterized as heterozygotes f
Externí odkaz:
https://doaj.org/article/b8e1fd48173e4a15861d5b08b86b0ff4
Autor:
Enrica Marchionni, Aurélie Méneret, Boris Keren, Judith Melki, Christian Denier, Alexandra Durr, Emmanuelle Apartis, Odile Boespflug-Tanguy, Fanny Mochel
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 9, Iss 0, Pp 1-4 (2019)
Background: KIF1C (Kinesin Family Member 1C) variants have been associated with hereditary spastic paraplegia and spastic ataxia. Case report: We report fraternal twins presenting with cerebellar ataxia and dystonic tremor. Their brain MRI showed a h
Externí odkaz:
https://doaj.org/article/a5ae91c4916e48d8b9c2cb4b79ca94dc
Autor:
Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Enrica Marchionni, Alice Traversa, Antonio Pizzuti
Publikováno v:
Diagnostics, Vol 12, Iss 3, p 575 (2022)
Fetal malformations occur in 2–3% of pregnancies. They require invasive procedures for cytogenetics and molecular testing. “Structural anomalies” include non-transient anatomic alterations. “Soft markers” are often transient minor ultrasoun
Externí odkaz:
https://doaj.org/article/c3a14fc1b068421ca949cbbcaeb39b84
Autor:
Alice Traversa, Enrica Marchionni, Agnese Giovannetti, Maria L. Genovesi, Noemi Panzironi, Katia Margiotti, Giulia Napoli, Francesca Piceci Sparascio, Alessandro De Luca, Francesco Petrizzelli, Massimo Carella, Francesco Cardona, Silvia Bernardo, Lucia Manganaro, Tommaso Mazza, Antonio Pizzuti, Viviana Caputo
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Abstract Background Corpus callosum agenesis (ACC) is one of the most frequent Central Nervous System (CNS) malformations. However, genetics underlying isolated forms is still poorly recognized. Here, we report on two female familial cases with parti
Externí odkaz:
https://doaj.org/article/dc2be2928238438d93f55dee99ed9483
Autor:
Alice Traversa, Silvia Bernardo, Alessandro Paiardini, Agnese Giovannetti, Enrica Marchionni, Maria Luce Genovesi, Daniele Guadagnolo, Barbara Torres, Stefano Paolacci, Laura Bernardini, Tommaso Mazza, Massimo Carella, Viviana Caputo, Antonio Pizzuti
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Abstract Background Posterior fossa malformations are among the most diagnosed central nervous system (CNS) anomalies detected by ultrasound (US) in prenatal age. We identified the pathogenic gene mutation in a male fetus of 17 weeks of gestation wit
Externí odkaz:
https://doaj.org/article/49ec2ce020a645f7a548bb81b061a0e3
Publikováno v:
Diagnostics, Vol 11, Iss 2, p 224 (2021)
The introduction of Next Generation Sequencing (NGS) technologies has exerted a significant impact on prenatal diagnosis. Prenatal Exome Sequencing (pES) is performed with increasing frequency in fetuses with structural anomalies and negative chromos
Externí odkaz:
https://doaj.org/article/10c0e4b273114141903060937f72b619
Autor:
Enrica Marchionni, Maria Grazia Porpora, Francesca Megiorni, Ilaria Piacenti, Agnese Giovannetti, Cinzia Marchese, Pierluigi Benedetti Panici, Antonio Pizzuti
Publikováno v:
Diagnostics, Vol 10, Iss 5, p 255 (2020)
Background: Endometriosis is a widespread multifactorial disease in which environmental, genetic, and epigenetic factors contribute to the phenotype. Single Nucleotide Polymorphisms (SNPs) in genes implicated in pivotal molecular mechanisms have been
Externí odkaz:
https://doaj.org/article/3af159841e5541fb97dc55b2d148cc81