Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Emanuela, Manfredini"'
Autor:
Alessandra Mihalich, Gabriella Cammarata, Gemma Tremolada, Emanuela Manfredini, Stefania Bianchi Marzoli, Anna Maria Di Blasio
Publikováno v:
Genes, Vol 15, Iss 6, p 766 (2024)
Inherited retinal diseases (IRDs) represent a frequent cause of blindness in children and adults. As a consequence of the phenotype and genotype heterogeneity of the disease, it is difficult to have a specific diagnosis without molecular testing. To
Externí odkaz:
https://doaj.org/article/2088acd0c68c42b0ba22f127d9cc693d
Autor:
Nicoletta Villa, Serena Redaelli, Elena Sala, Donatella Conconi, Lorenza Romitti, Emanuela Manfredini, Francesca Crosti, Gaia Roversi, Marialuisa Lavitrano, Ornella Rodeschini, Maria Paola Recalcati, Rocco Piazza, Leda Dalprà, Paola Riva, Angela Bentivegna
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 11, p 5637 (2021)
The presence of thousands of repetitive sequences makes the centromere a fragile region subject to breakage. In this study we collected 31 cases of rearrangements of chromosome 18, of which 16 involved an acrocentric chromosome, during genetic screen
Externí odkaz:
https://doaj.org/article/d09fb230d4a94bafb5cb0fc43a881330
Autor:
Bernd, Wissinger, Britta, Baumann, Elena, Buena-Atienza, Zeinab, Ravesh, Artur V, Cideciyan, Katarina, Stingl, Isabelle, Audo, Isabelle, Meunier, Beatrice, Bocquet, Elias I, Traboulsi, Alison J, Hardcastle, Jessica C, Gardner, Michel, Michaelides, Kari E, Branham, Thomas, Rosenberg, Sten, Andreasson, Hélène, Dollfus, David, Birch, Andrea L, Vincent, Loreto, Martorell, Jaume, Català Mora, Ulrich, Kellner, Klaus, Rüther, Birgit, Lorenz, Markus N, Preising, Emanuela, Manfredini, Yuri A, Zarate, Raymon, Vijzelaar, Eberhart, Zrenner, Samuel G, Jacobson, Susanne, Kohl
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 119(27)
Blue cone monochromacy (BCM) is an X-linked retinal disorder characterized by low vision, photoaversion, and poor color discrimination. BCM is due to the lack of long-wavelength-sensitive and middle-wavelength-sensitive cone photoreceptor function an
Autor:
Francesca Casadei, Rita Facchetti, Cristina Giannattasio, Emanuela Manfredini, Francesco Musca, Alessandro Maloberti, Francesca Spanò, Lucia Occhi, Fabio Turazza, Oriana Belli, G Santambrogio, Antonella Moreo, P. Vallerio, Angelica Peritore, Benedetta De Chiara
Publikováno v:
The International Journal of Cardiovascular Imaging. 35:2167-2175
Treatment of overt form of hypertrophic cardiomyopathy (HCM) is often unsuccessful. Efforts are focused on a possible early identification in order to prevent or delaying the development of hypertrophy. Our aim was to find an echocardiographic marker
Autor:
Paola Primignani, Antonella Rossetti, Donata Calò, Emanuela Veniani, Giovanni P. Gesu, Manuela Scarcello, Roberta Terrana, Silvana Penco, Marco Mazza, Emanuela Manfredini, Maria Cristina Patrosso, Lucia Mauri, Alessandra Del Longo, Giuseppe Mingoia, Elena Piozzi, Adriano Egidio Radaelli, Giovanni Marsico
Publikováno v:
Journal of Human Genetics. 62:277-290
Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. In this study we recruited 321 albino patients and screened them for the
Autor:
Federico Di Matteo, Alessandro Rabiolo, Giulia Maria Ferrari, Paolo Bettin, Marina Fiori, Francesco Bandello, Emanuela Manfredini, Carlo Ciampi
Publikováno v:
Ophthalmic genetics. 39(4)
Background: 22q11.2 microduplication is a relatively recently recognized syndrome. Findings in affected individuals range from apparent normality to a wide variety of systemic and ocular conditions. We describe the association between 22q11.2 microdu
Autor:
Silvana Penco, Rosanna Asselta, Alessandra Del Longo, Elena Piozzi, Giulia Soldà, Giovanni P. Gesu, Letizia Straniero, Emanuela Manfredini, Lucia Mauri, Paola Primignani, Valeria Rimoldi
Publikováno v:
Gene. 537:79-84
Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. OCA type II (OCA2) is one of the four commonly-recognized forms of albin
Autor:
Muna Al Oum, Elena Piozzi, Lucia Mauri, Franco Stanzial, Luca Barone, Maria Cristina Patrosso, Emanuela Manfredini, Silvana Penco, Francesco Benedicenti, Alessandra Del Longo
Publikováno v:
Gene. 533:398-402
Background Oculocutaneous Albinism (OCA) is a heterogeneous group of inherited diseases involving hair, skin and eyes. To date, six forms are recognized on the effects of different melanogenesis genes. OCA4 is caused by mutations in SLC45A2 showing a
Autor:
Antonio Percesepe, Luisa Murer, Stefano Stagi, Cristina Malaventura, Silvana Penco, Elena Andreucci, Rosangela Artuso, Valerio Orlandini, Sabrina Giglio, Maria Rosa Caruso, Giovanna Traficante, Aldesia Provenzano, Mario Giordano, Francesco Emma, Emanuela Manfredini, Enrico Grosso, Rosa Maria Roperto, Livia Garavelli, Laura Giunti, Marco Materassi, Marilena Pantaleo, Elisa Benetti, Giacomo Colussi, Sara Bargiacchi, Nunzia Miglietti, Simeone Andrulli, Viviana Palazzo, Benedetta Mazzinghi, Francesca Rivieri, Francesca Becherucci, Elena Mancini, Giulia Sansavini, Gianluca Vergine, Paola Romagnani
Publikováno v:
Kidney international. 91(5)
Primary distal renal tubular acidosis is a rare genetic disease. Mutations in SLC4A1 , ATP6V0A4, and ATP6V1B1 genes have been described as the cause of the disease, transmitted as either an autosomal dominant or recessive trait. Particular clinical f
Autor:
Emanuela Veniani, Paola Primignani, Maria Cristina Patrosso, Alessandra Franzoni, Giuseppe Damante, Silvana Penco, Alessandra Del Longo, Davide Allegrini, Elena Piozzi, L. Romitti, Emanuela Manfredini, Giovanni P. Gesu, Lucia Mauri
Publikováno v:
Ophthalmic genetics. 37(3)
To uncover underlying mutations in a cohort of Italian patients with aniridia, a rare congenital panocular condition with an incidence ranging from 1:64,000 to 1:100,000. The disease may be found isolated or in association with other syndromes charac