Zobrazeno 1 - 10
of 84
pro vyhledávání: '"Elena Manara"'
Autor:
Mahmut C. Ergoren, Erdal Eren, Elena Manara, Stefano Paolacci, Pinar Tulay, Sebnem O. Sag, Matteo Bertelli, Gamze Mocan, Sehime Gulsun Temel
Publikováno v:
Global Medical Genetics, Vol 08, Iss 03, Pp 100-103 (2021)
Achondroplasia (ACH) is a hereditary disorder of dwarfism that is caused by the aberrant proliferation and differentiation of chondrocyte growth plates. The common findings of macrocephaly and facial anomalies accompany dwarfism in these patients. Fi
Externí odkaz:
https://doaj.org/article/25af990199424ec8aeca1660290848e9
Autor:
Giuseppe Francesco Damiano Lupo, Gabriele Rocchetti, Luigi Lucini, Lorenzo Lorusso, Elena Manara, Matteo Bertelli, Edoardo Puglisi, Enrica Capelli
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-18 (2021)
Abstract Chronic Fatigue Syndrome/Myalgic Encephalomyelitis (CFS/ME) is a severe multisystemic disease characterized by immunological abnormalities and dysfunction of energy metabolism. Recent evidences suggest strong correlations between dysbiosis a
Externí odkaz:
https://doaj.org/article/0a366db18f21496c9f70745d009da265
Autor:
Elena Manara, Stefano Paolacci, Fabiana D’Esposito, Andi Abeshi, Lucia Ziccardi, Benedetto Falsini, Leonardo Colombo, Giancarlo Iarossi, Alba Pilotta, Loredana Boccone, Giulia Guerri, Marica Monica, Balzarini Marta, Paolo Enrico Maltese, Luca Buzzonetti, Luca Rossetti, Matteo Bertelli
Publikováno v:
Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-8 (2019)
Abstract Background Bardet–Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be managed. Accurate mo
Externí odkaz:
https://doaj.org/article/baad0fff401c40fabb59d9e3e75bf2e8
Autor:
Leonardo Gatticchi, Dominika Vešelényiová, Jan Miertus, Paolo Enrico Maltese, Elena Manara, Alisia Costantini, Sabrina Benedetti, Darina Ďurovčíková, Juraj Krajcovic, Matteo Bertelli
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
ABSTRACT Background The rapid spread of genome‐wide next‐generation sequencing in the molecular diagnosis of rare genetic disorders has produced increasing evidence of multilocus genomic variations in cases with a previously well‐characterized
Externí odkaz:
https://doaj.org/article/25fb7753fd374e0cb98cade89e2bc9c6
Autor:
Sylvain Mukenge, Sawan K. Jha, Marco Catena, Elena Manara, Veli‐Matti Leppänen, Elisa Lenti, Daniela Negrini, Matteo Bertelli, Andrea Brendolan, Michael Jeltsch, Luca Aldrighetti
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Milroy‐like disease is the diagnostic definition used for patients with phenotypes that resemble classic Milroy disease (MD) but are negative to genetic testing for FLT4. In this study, we aimed at performing a genetic character
Externí odkaz:
https://doaj.org/article/31d2199b02cb47c58566f0fae40d1b7a
Autor:
Stefano Paolacci, Aysha Karim Kiani, Elena Manara, Tommaso Beccari, Maria Rachele Ceccarini, Liborio Stuppia, Pietro Chiurazzi, Laura Dalla Ragione, Matteo Bertelli
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background Anorexia nervosa is a multifactorial eating disorder that manifests with self‐starvation, extreme anxiety, hyperactivity, and amenorrhea. Long‐term effects include organ failure, disability, and in extreme cases, even death. M
Externí odkaz:
https://doaj.org/article/8104ef067f1b4a8884de8ef5e1126e8c
Autor:
Giancarlo Iarossi, Valerio Marino, Paolo Enrico Maltese, Leonardo Colombo, Fabiana D’Esposito, Elena Manara, Kristjana Dhuli, Antonio Mattia Modarelli, Gilda Cennamo, Adriano Magli, Daniele Dell’Orco, Matteo Bertelli
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 1, p 381 (2020)
The small Ras-related GTPase Rab-28 is highly expressed in photoreceptor cells, where it possibly participates in membrane trafficking. To date, six alterations in the RAB28 gene have been associated with autosomal recessive cone-rod dystrophies. Con
Externí odkaz:
https://doaj.org/article/917d07f609194f4e9b509b45f8b87d4e
Autor:
Rossella Cannarella, Vincenza Precone, Giulia Guerri, Gian Maria Busetto, Gian Carlo Di Renzo, Sandro Gerli, Elena Manara, Astrit Dautaj, Matteo Bertelli, Aldo Eugenio Calogero
Publikováno v:
Life, Vol 10, Iss 10, p 242 (2020)
Background: Up to 15% of couples are infertile and male factor infertility accounts for approximately 50% of these cases. Male infertility is a multifactorial pathological condition. The genetic of male infertility is very complex and at least 2000 g
Externí odkaz:
https://doaj.org/article/875c7329d70f49f59a51c3ba1d0f0e87
Autor:
Sandro Michelini, Pietro Chiurazzi, Valerio Marino, Daniele Dell’Orco, Elena Manara, Mirko Baglivo, Alessandro Fiorentino, Paolo Enrico Maltese, Michele Pinelli, Karen Louise Herbst, Astrit Dautaj, Matteo Bertelli
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 17, p 6264 (2020)
Lipedema is an often underdiagnosed chronic disorder that affects subcutaneous adipose tissue almost exclusively in women, which leads to disproportionate fat accumulation in the lower and upper body extremities. Common comorbidities include anxiety,
Externí odkaz:
https://doaj.org/article/ab8256b07a964463abb27de4aacfd147
Autor:
Daniela Tavian, Sara Missaglia, Sandro Michelini, Paolo Enrico Maltese, Elena Manara, Alvaro Mordente, Matteo Bertelli
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 14, p 5112 (2020)
FOXC2 is a member of the human forkhead-box gene family and encodes a regulatory transcription factor. Mutations in FOXC2 have been associated with lymphedema distichiasis (LD), an autosomal dominant disorder that primarily affects the limbs. Most pa
Externí odkaz:
https://doaj.org/article/c86d98c834a04b0a809d98bca39319ce