Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Olga, Calabrese"'
Publikováno v:
Children, Vol 11, Iss 5, p 578 (2024)
The advancement of genetic knowledge and the discovery of an increasing number of genetic disorders has made the role of the geneticist progressively more complex and fundamental. However, most genetic disorders present during childhood; thus, their
Externí odkaz:
https://doaj.org/article/1dd974fc7196459b849e4005b34a59b1
Autor:
Ilaria Baldelli, Alessio Baccarani, Chiara Barone, Francesca Bedeschi, Sebastiano Bianca, Olga Calabrese, Marco Castori, Nunzio Catena, Massimo Corain, Sara Costanzo, Giacomo De Paoli Barbato, Santa De Stefano, Maria Teresa Divizia, Francesco Feletti, Matteo Formica, Mario Lando, Margherita Lerone, Fulvio Lorenzetti, Carlo Martinoli, Lorenzo Mellini, Maurizio Bruno Nava, Giuseppe Porcellini, Aldamaria Puliti, Maria Victoria Romanini, Franco Rondoni, Pierluigi Santi, Silvana Sartini, Filippo Senes, Lucia Spada, Luigi Tarani, Maura Valle, Cristina Venturino, Federico Zaottini, Michele Torre, Marco Crimi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-17 (2020)
Abstract Background Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and h
Externí odkaz:
https://doaj.org/article/64be2b81613c45cf97d79b8ec171d7ee
Autor:
Erica Rosina, Lidia Pezzani, Laura Pezzoli, Daniela Marchetti, Matteo Bellini, Alba Pilotta, Olga Calabrese, Emanuele Nicastro, Francesco Cirillo, Anna Cereda, Agnese Scatigno, Donatella Milani, Maria Iascone
Publikováno v:
Genes, Vol 13, Iss 7, p 1275 (2022)
In the last few years, trio-Whole Exome Sequencing (WES) analysis has revolutionized the diagnostic process for patients with rare genetic syndromes, demonstrating its potential even in non-specific clinical pictures and in atypical presentations of
Externí odkaz:
https://doaj.org/article/d4ee2902baef4f0ba3bce722479662cc
Autor:
Glen D. Thomson, Olga Calabrese, Hong Cui, Sandra Chantot Bastaraud, Frances Elmslie, Renee Carroll, Agnès Guët, Sandra Whalen, Anne Slavotinek, Thierry Billette de Villemeur, Vishal Kumar, Brian Kirmse, Patrick Yap, Elise Brischoux-Boucher, Florence Riccardi, Jenny Morton, Carroll Jennifer, Jonathan Levy, Manoelle Kossorotoff, Alessandro Mauro Spinelli, Elisabeth Forsythe, Annelies Dheedene, Anne McCabe, Cecile Cieuta Walti, Jozef Gecz, Anne Claude Tabet, Laurent Villard, Cyril Mignot, Kristen V. Truxal, Jessica N. Hartley, Annick Raas-Rothschild, Jillian R Ozmore, Marie Shaw, Jan Liebelt, Delphine Héron, Patrick Frosk, Benjamin Kamien, Jane A. Hurst, Antonella Pini
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41431-021-00821-0⟩
European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00821-0⟩
Eur J Hum Genet
European journal of human genetics : EJHG, vol 29, iss 9
European journal of human genetics, 29(9), 1405-1417. Nature Publishing Group
European Journal of Human Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41431-021-00821-0⟩
European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00821-0⟩
Eur J Hum Genet
European journal of human genetics : EJHG, vol 29, iss 9
European journal of human genetics, 29(9), 1405-1417. Nature Publishing Group
International audience; The BCAP31 gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. To date, BCAP31 pathogenic variants have been reported in 12 male cases from seven families (six loss of function (LoF)
Autor:
Eva Pompili, Marco Lucci, Elisa Calzolari, Alessandra Ferlini, Anna Baroncini, Olga Calabrese, Marco Seri, Stefania Bigoni, Giulia Parmeggiani, G Astolfi
Publikováno v:
Epidemiology Biostatistics and Public Health, Vol 11, Iss 2 (2013)
Epidemiology, Biostatistics and Public Health; Vol 11, No 2 (2014)
Epidemiology, Biostatistics, and Public Health; V. 11 N. 2 (2014)
Epidemiology, Biostatistics, and Public Health; Vol. 11 No. 2 (2014)
Epidemiology, Biostatistics and Public Health; Vol 11, No 2 (2014)
Epidemiology, Biostatistics, and Public Health; V. 11 N. 2 (2014)
Epidemiology, Biostatistics, and Public Health; Vol. 11 No. 2 (2014)
Background: there are many reasons why a couple may seek specialist genetic counselling about foetal risk. The referral for prenatal genetic counselling of women with a known risk factor during pregnancy has many disadvantages. Despite this, 10-20% o
Autor:
Stefania Boccia, Olga Calabrese, Elisabetta Pelo, Marco Colotto, Francesca Torricelli, Anna Baroncini
Publikováno v:
Epidemiology, Biostatistics, and Public Health; V. 12 N. 4 (2015)
Epidemiology, Biostatistics, and Public Health; Vol. 12 No. 4 (2015)
Epidemiology Biostatistics and Public Health, Vol 12, Iss 4 (2015)
Epidemiology, Biostatistics and Public Health; Vol 12, No 4 (2015)
Epidemiology, Biostatistics, and Public Health; Vol. 12 No. 4 (2015)
Epidemiology Biostatistics and Public Health, Vol 12, Iss 4 (2015)
Epidemiology, Biostatistics and Public Health; Vol 12, No 4 (2015)
Background: Personal genomic tests (PGT) offered directly-to-consumers (DTC) for complex disease risk assessment have raised several concerns regarding their potential adverse impact. To mitigate worries continuing professional education has been adv
Autor:
Licia Lugli, Cecilia Rossi, Pier Luca Ceccarelli, Olga Calabrese, Luca Bedetti, Francesca Miselli, Maria Anastasia Bianchini, Lorenzo Iughetti, Alberto Berardi
This report describes a novel truncating c.709C T p.(Gln237*) SALL1 variant in two siblings exhibiting sagittal craniosynostosis as a unique feature of Townes-Brocks syndrome (TBS, OMIM #107480). TBS is a rare autosomal dominant syndrome with variabl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9126d4d377b1006fc47efa54019f563
https://hdl.handle.net/11380/1301169
https://hdl.handle.net/11380/1301169
Autor:
Francesca Romana Grati, Ilaria Bestetti, Daria De Siero, Francesca Malvestiti, Nicoletta Villa, Elena Sala, Francesca Crosti, Valentina Parisi, Anna Maria Nardone, Gianluca Di Giacomo, Antonella Pettinari, Giada Tortora, Annamaria Montaldi, Annapaola Calò, Donatella Saccilotto, Sara Zanchetti, Paola Celli, Silvana Guerneri, Rosamaria Silipigni, Laura Cardarelli, Elisabetta Lippi, Simona Cavani, Michela Malacarne, Rita Genesio, Nicola Beltrami, Maria Carla Pittalis, Laura Desiderio, Mattia Gentile, Romina Ficarella, Maria Paola Recalcati, Ilaria Catusi, Maria Garzo, Lorena Miele, Cecilia Corti, Sara Ghezzo, Veronica Bertini, Francesca Cambi, Angelo Valetto, Barbara Facchinetti, Laura Bernardini, Anna Capalbo, Federica Balducci, Elisabetta Pelo, Barbara Minuti, Chiara Pescucci, Costanza Giuliani, Alessandra Renieri, Ilaria Longo, Rossella Tita, Giuseppe Castello, Rosario Casalone, Rossana Righi, Barbara Raso, Alessandro Civolani, Maria Cristina Muzi, Manuela di Natale, Luigia Varriale, Daniela Gasperini, Maria Cristina Nuzzi, Angelo Cellamare, Paola Casieri, Rosa Busuito, Caterina Ceccarini, Carla Cesarano, Orsola Privitera, Daniela Melani, Cristina Menozzi, Cristina Falcinelli, Olga Calabrese, Paola Battaglia, Antonella Tanzariello, Tamara Stampalija, Carmela Ardisia, Paolo Gasparini, Peter Benn, Antonio Novelli
Objectives: To establish the positive predictive values (PPV) of cfDNA testing based on data from a nationwide survey of independent clinical cytogenetics laboratories. Methods: Prenatal diagnostic test results obtained by Italian laboratories betwee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deddef97ee50604835da23b5f9aa9edb
https://hdl.handle.net/11368/3035240
https://hdl.handle.net/11368/3035240
Autor:
Martina Lepore Signorile, Olga Calabrese, Diana Carli, Valentina Grossi, Carlotta Ranieri, Alessandro Mussa, K Rossi, Cristiano Simone, Nicoletta Resta, Licia Lugli, Marilidia Piglionica
Publikováno v:
Genetics in Medicine. 23:2223-2224
Autor:
Livia Garavelli, Stefano Giuseppe Caraffi, Alessandra Ferlini, Marzia Pollazzon, Amelia Morrone, Stefania Bigoni, Lorenzo Iughetti, Lorenzo Ferri, Licia Lugli, Olga Calabrese, Alberto Berardi
Publikováno v:
American Journal of Medical Genetics Part A. 188:382-383