Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Sara Bargiacchi"'
Autor:
Alessandro Barbato, Giulia Gori, Michele Sacchini, Francesca Pochiero, Sara Bargiacchi, Giovanna Traficante, Viviana Palazzo, Lucia Tiberi, Claudia Bianchini, Davide Mei, Elena Parrini, Tiziana Pisano, Elena Procopio, Renzo Guerrini, Angela Peron, Stefano Stagi
Publikováno v:
Endocrine Connections, Vol 13, Iss 10, Pp 1-9 (2024)
Context: Cytochrome C oxidase (COX) is the fourth component of the respiratory chain and is located within the internal membrane of mitochondria. COX deficiency causes an inherited mitochondrial disease with significant genetic and phenotypic heterog
Externí odkaz:
https://doaj.org/article/da9af13106284280995323cb873fffae
Autor:
Giacomo M. Bacci, Elisa Marziali, Sara Bargiacchi, Michel Paques, Gianni Virgili, Pina Fortunato, Marine Durand, Camilla Rocca, Angelica Pagliazzi, Viviana Palazzo, Lucia Tiberi, Debora Vergani, Samuela Landini, Angela Peron, Rosangela Artuso, Bianca Pacini, Monica Stabile, Andrea Sodi, Roberto Caputo
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Aim of the present study is to evaluate the relationship between genetic and phenotypic data in a series of patients affected by grade I and II of foveal hypoplasia with stable fixation and good visual acuity using multimodal imaging techniq
Externí odkaz:
https://doaj.org/article/a46dacc4911b458c8c47605a52a68f87
Autor:
Vittoria Murro, Sandro Banfi, Francesco Testa, Giancarlo Iarossi, Benedetto Falsini, Andrea Sodi, Sabrina Signorini, Achille Iolascon, Roberta Russo, Dario Pasquale Mucciolo, Roberto Caputo, Giacomo Maria Bacci, Sara Bargiacchi, Simona Turco, Stefania Fortini, Francesca Simonelli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Non-syndromic inherited retinal dystrophies (IRDs) such as retinitis pigmentosa or Leber congenital amaurosis generally manifest between early childhood and late adolescence, imposing profound long-term impacts as a result of visi
Externí odkaz:
https://doaj.org/article/e098df477d0641729cd2bab23f1352b6
Autor:
Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Ruiz Pallares, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti-Pierri, Philippe M. Campeau, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic
Publikováno v:
HGG Advances, Vol 3, Iss 1, Pp 100075- (2022)
Summary: Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of geno
Externí odkaz:
https://doaj.org/article/625f01b427784d528fd75cff511b4125
Autor:
Camilla Rocca, Lucia Tiberi, Sara Bargiacchi, Viviana Palazzo, Samuela Landini, Elisa Marziali, Roberto Caputo, Francesca Tinelli, Viviana Marchi, Alessandro Benedetto, Angelica Pagliazzi, Giacomo Maria Bacci
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 14, p 7825 (2022)
Oculocutaneous albinism is an autosomal recessive disorder characterized by the presence of typical ocular features, such as foveal hypoplasia, iris translucency, hypopigmented fundus oculi and reduced pigmentation of skin and hair. Albino patients c
Externí odkaz:
https://doaj.org/article/cd93a99945c64a1cafcafd6c98e8b3c8
Autor:
Evelise Brizola, Maria Gnoli, Morena Tremosini, Paolo Nucci, Sara Bargiacchi, Andrea La Barbera, Sabrina Giglio, Luca Sangiorgi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Stickler Syndrome is a rare connective tissue disorder, characterized by clinical, and genetic heterogeneity. The clinical expression is highly variable, including moderate to severe myopia in childhood, hearing loss, facial dysmo
Externí odkaz:
https://doaj.org/article/8e460f872bfd43ac894500d53163cdf5
Autor:
Stefano Stagi, Elisabetta Lapi, Silvia Romano, Sara Bargiacchi, Alice Brambilla, Sabrina Giglio, Salvatore Seminara, Maurizio de Martino
Publikováno v:
International Journal of Endocrinology, Vol 2015 (2015)
Background. Poor studies have evaluated 25-hydroxycholecalciferol (25(OH)D) levels in Down syndrome (DS). Objective. To assess in DS subjects serum 25(OH)D value, to identify risk factors for vitamin D deficiency, and to evaluate whether a normal 25(
Externí odkaz:
https://doaj.org/article/a29b7b5a6b2248beab90b8858382d5f5
Autor:
Elisa Marziali, Filip Van Den Broeck, Sara Bargiacchi, Pina Fortunato, Roberto Caputo, Andrea Sodi, Julie De Zaeytijd, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Ilaria Passerini, Viviana Palazzo, Francesca Peluso, Elfride de Baere, Christina Zeitz, Bart P. Leroy, Jacopo Secci, Giacomo M. Bacci
Publikováno v:
Ophthalmic Genetics. 44:152-162
Autor:
Michael A. Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Marco Ferilli, Robin S. Fletcher, Florian Cherick, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie R. Pallares, Maria Piccione, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W. E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella M. Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce B. Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M. A. M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, Dominique Campion, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Delphine Heron, Thomas Husson, Kristin D. Kernohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman‐Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Marie Vincent, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic
Publikováno v:
Human Mutation, 43(11), 1609-1628. Wiley-Liss Inc.
Human Mutation: Variation, Informatics and Disease, 43(11), 1609-1628. WILEY
Human mutation, 43(11), 1609-1628. Wiley-Liss Inc.
Levy, M A, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Palomares Bralo, M, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Ferilli, M, Fletcher, R S, Cherick, F, Foroutan, A, Friez, M J, Gervasini, C, Haghshenas, S, Hilton, B A, Jenkins, Z, Kaur, S, Lewis, S, Louie, R J, Maitz, S, Milani, D, Morgan, A T, Oegema, R, Østergaard, E, Pallares, N R, Piccione, M, Plomp, A S, Poulton, C, Reilly, J, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, John, M S, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T B, Banka, S, Gecz, J, Henneman, P, Lee, J A, Mannens, M M A M, Roscioli, T, Siu, V, Amor, D J, Baynam, G, Bend, E G, Boycott, K, Brunetti-Pierri, N, Campeau, P M, Campion, D, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Heron, D, Husson, T, Kernohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vincent, M, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, ' Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders ', Human Mutation, vol. 43, no. 11, pp. 1609-1628 . https://doi.org/10.1002/humu.24446
Human Mutation: Variation, Informatics and Disease, 43(11), 1609-1628. WILEY
Human mutation, 43(11), 1609-1628. Wiley-Liss Inc.
Levy, M A, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Palomares Bralo, M, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Ferilli, M, Fletcher, R S, Cherick, F, Foroutan, A, Friez, M J, Gervasini, C, Haghshenas, S, Hilton, B A, Jenkins, Z, Kaur, S, Lewis, S, Louie, R J, Maitz, S, Milani, D, Morgan, A T, Oegema, R, Østergaard, E, Pallares, N R, Piccione, M, Plomp, A S, Poulton, C, Reilly, J, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, John, M S, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T B, Banka, S, Gecz, J, Henneman, P, Lee, J A, Mannens, M M A M, Roscioli, T, Siu, V, Amor, D J, Baynam, G, Bend, E G, Boycott, K, Brunetti-Pierri, N, Campeau, P M, Campion, D, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Heron, D, Husson, T, Kernohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vincent, M, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, ' Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders ', Human Mutation, vol. 43, no. 11, pp. 1609-1628 . https://doi.org/10.1002/humu.24446
An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive and specific biomarkers that have recently been applied in cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa933745b4435f831f0ab98620d9364
https://research.vumc.nl/en/publications/13d0dd51-76a9-4868-ac6b-44bb728ad6bf
https://research.vumc.nl/en/publications/13d0dd51-76a9-4868-ac6b-44bb728ad6bf
Autor:
Flavio Giordano, Viviana Palazzo, Silvia Guarducci, Livia Garavelli, Mirko Scagnet, Angelica Pagliazzi, Marzia Mortilla, Rosangela Artuso, Sabrina Giglio, Daniele di Feo, Orsetta Zuffardi, Giulia Forzano, Gianluca Mattei, Giovanna Traficante, Lucia Tiberi, Betti Giusti, Aldesia Provenzano, Andrea La Barbera, Lorenzo Genitori, Claudio De Filippi, Ada Kura, Nehir Edibe Kurtas, Debora Vergani, Marilena Pantaleo, Sara Bargiacchi
Publikováno v:
Human Genetics
Type 1 Chiari malformation (C1M) is characterized by cerebellar tonsillar herniation of 3–5 mm or more, the frequency of which is presumably much higher than one in 1000 births, as previously believed. Its etiology remains undefined, although a gen