Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling

Autor: Agnese Feresin, Tamara Stampalija, Stefania Cappellani, Rossana Bussani, Flavio Faletra, Flora Murru, Sheila Ulivi, Sarah Suergiu, Pasquale Savarese, Antonio Pedicini, Margherita Policicchio, Raffaella Ruggiero, Barbara Bosio, Giovanni Savarese, Carmela Ardisia

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

The sequencing of cell-free fetal DNA in the maternal plasma through non-invasive prenatal testing (NIPT) is an accurate genetic screening test to detect the most common fetal aneuploidies during pregnancy. The extensive use of NIPT, as a screening m

Externí odkaz: https://doaj.org/article/48aeebc50d96425897a92670d9004727

Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

Autor: Bram P. Prins, Timothy J. Mead, Jennifer A. Brody, Gardar Sveinbjornsson, Ioanna Ntalla, Nathan A. Bihlmeyer, Marten van den Berg, Jette Bork-Jensen, Stefania Cappellani, Stefan Van Duijvenboden, Nikolai T. Klena, George C. Gabriel, Xiaoqin Liu, Cagri Gulec, Niels Grarup, Jeffrey Haessler, Leanne M. Hall, Annamaria Iorio, Aaron Isaacs, Ruifang Li-Gao, Honghuang Lin, Ching-Ti Liu, Leo-Pekka Lyytikäinen, Jonathan Marten, Hao Mei, Martina Müller-Nurasyid, Michele Orini, Sandosh Padmanabhan, Farid Radmanesh, Julia Ramirez, Antonietta Robino, Molly Schwartz, Jessica van Setten, Albert V. Smith, Niek Verweij, Helen R. Warren, Stefan Weiss, Alvaro Alonso, David O. Arnar, Michiel L. Bots, Rudolf A. de Boer, Anna F. Dominiczak, Mark Eijgelsheim, Patrick T. Ellinor, Xiuqing Guo, Stephan B. Felix, Tamara B. Harris, Caroline Hayward, Susan R. Heckbert, Paul L. Huang, J. W. Jukema, Mika Kähönen, Jan A. Kors, Pier D. Lambiase, Lenore J. Launer, Man Li, Allan Linneberg, Christopher P. Nelson, Oluf Pedersen, Marco Perez, Annette Peters, Ozren Polasek, Bruce M. Psaty, Olli T. Raitakari, Kenneth M. Rice, Jerome I. Rotter, Moritz F. Sinner, Elsayed Z. Soliman, Tim D. Spector, Konstantin Strauch, Unnur Thorsteinsdottir, Andrew Tinker, Stella Trompet, André Uitterlinden, Ilonca Vaartjes, Peter van der Meer, Uwe Völker, Henry Völzke, Melanie Waldenberger, James G. Wilson, Zhijun Xie, Folkert W. Asselbergs, Marcus Dörr, Cornelia M. van Duijn, Paolo Gasparini, Daniel F. Gudbjartsson, Vilmundur Gudnason, Torben Hansen, Stefan Kääb, Jørgen K. Kanters, Charles Kooperberg, Terho Lehtimäki, Henry J. Lin, Steven A. Lubitz, Dennis O. Mook-Kanamori, Francesco J. Conti, Christopher H. Newton-Cheh, Jonathan Rosand, Igor Rudan, Nilesh J. Samani, Gianfranco Sinagra, Blair H. Smith, Hilma Holm, Bruno H. Stricker, Sheila Ulivi, Nona Sotoodehnia, Suneel S. Apte, Pim van der Harst, Kari Stefansson, Patricia B. Munroe, Dan E. Arking, Cecilia W. Lo, Yalda Jamshidi

Publikováno v: Genome Biology, Vol 19, Iss 1, Pp 1-17 (2018)

Abstract Background Genome-wide association studies conducted on QRS duration, an electrocardiographic measurement associated with heart failure and sudden cardiac death, have led to novel biological insights into cardiac function. However, the varia

Externí odkaz: https://doaj.org/article/90c79bdbde864108a63e5a86f193c9b6

What Is the Exact Contribution of

Autor: Anna Monica, Bianco, Giulia, Ragusa, Valentina, Di Carlo, Flavio, Faletra, Mariateresa, Di Stazio, Costantina, Racano, Giovanni, Trisolino, Stefania, Cappellani, Maurizio, De Pellegrin, Ignazio, d'Addetta, Giuseppe, Carluccio, Sergio, Monforte, Antonio, Andreacchio, Daniela, Dibello, Adamo P, d'Adamo

Publikováno v: Genes. 13(11)

Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be secondary or associated with complex syndromes. To date, two genes that appear to play an importa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ea68e2d166ca8cca3b7aab8e9c36d598
https://pubmed.ncbi.nlm.nih.gov/36360195

What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study

Autor: Anna Monica Bianco, Giulia Ragusa, Valentina Di Carlo, Flavio Faletra, Mariateresa Di Stazio, Costantina Racano, Giovanni Trisolino, Stefania Cappellani, Maurizio De Pellegrin, Ignazio d’Addetta, Giuseppe Carluccio, Sergio Monforte, Antonio Andreacchio, Daniela Dibello, Adamo P. d’Adamo

Publikováno v: Genes; Volume 13; Issue 11; Pages: 1958

Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be secondary or associated with complex syndromes. To date, two genes that appear to play an importa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d25a9c788dd8cfbb4381d7e0e9f2fbd5
https://hdl.handle.net/11368/3033198

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

Autor: Serena Redaelli, Annamaria Montaldi, Francesca Crosti, Marzia Giagnacovo, Maria Paola Recalcati, Chiara Palka, Carlo Ceglia, Lidia Larizza, Caterina Ceccarini, Chiara Rigon, Anna Maria Nardone, Antonio Novelli, Domenico Coviello, Stefania Cappellani, Alessandra Renieri, Anna Maria Ciaschini, Alberta Alghisi, Ilaria Catusi, Daniela Zuccarello, Vanna Pecile, Mariella Tonelli, Paola Granata, Ilaria Bestetti, Ilaria Longo, Giuseppina Marseglia, Nicoletta Villa, Chiara Pessina, Michela Malacarne, Fabiola Tiberi, Chiara Valtorta, Melissa Alfonsi, Anna Zilio, Maria Garzo, Rossella Caselli, Annamaria D'Aprile, Daniela Giardino, Rosario Casalone, Diana Postorivo, Rita Genesio, Antonella Fabretto

Publikováno v: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)

Background Chromosomal microarray analysis (CMA) is nowadays widely used in the diagnostic path of patients with clinical phenotypes. However, there is no ascertained evidence to date on how to assemble single/combined clinical categories of developm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4b6658258edd9595ab4d3e15be67e45
https://doi.org/10.1002/mgg3.1056