Identifying phenotypic expansions for congenital diaphragmatic hernia plus ( CDH +) using DECIPHER data

Autor: Amy Hardcastle, Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda E. Gerard, Jill A. Rosenfeld, Saumya D. Sisoudiya, Andres Hernandez‐Garcia, Sara Loddo, Silvia Di Tommaso, Antonio Novelli, Maria L. Dentici, Rossella Capolino, Maria C. Digilio, Ludovico Graziani, Cecilie F. Rustad, Katherine Neas, Giovanni B. Ferrero, Alfredo Brusco, Eleonora Di Gregorio, Diana Wellesley, Claire Beneteau, Madeleine Joubert, Kris Van Den Bogaert, Anneleen Boogaerts, Dominic J. McMullan, John Dean, Maria G. Giuffrida, Laura Bernardini, Vinod Varghese, Nora L. Shannon, Rachel E. Harrison, Wayne W. K. Lam, Shane McKee, Peter D. Turnpenny, Trevor Cole, Jenny Morton, Jacqueline Eason, Marilyn C. Jones, Rebecca Hall, Michael Wright, Karen Horridge, Chad A. Shaw, Wendy K. Chung, Daryl A. Scott

Publikováno v: American Journal of Medical Genetics Part A. 188:2958-2968

Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other birth defects (CDH+). A molecular etiology can only be identified in a subset of CDH cases. This is due, in part, to an incomplete understanding of the genes th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ff6c6c10bf462c0911cb2f912bb59f1
https://doi.org/10.1002/ajmg.a.62919

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Autor: Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian

Publikováno v: Genetics in Medicine, 25(1), 135-142. Nature Publishing Group
Genetics in Medicine, 25, 1, pp. 135-142
Scientia
Genetics in Medicine, 25, 135-142

Chromatinopathy; Syndromic neurodevelopmental disorder; Syndromic obesity Cromatinopatia; Trastorn sindròmic del neurodesenvolupament; Obesitat sindròmica Cromatinopatía; Trastorno sindrómico del neurodesarrollo; Obesidad sindrómica Purpose Prot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ceace68f22e9fddfec1c6fe140b0167
https://cris.maastrichtuniversity.nl/en/publications/81d27084-ec1f-4ef6-a38c-5c73866a5a8e

8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision

Autor: Marianna, Cicenia, Viola, Alesi, Valeria, Orlando, Monia, Magliozzi, Silvia, Di Tommaso, Francesca G, Iodice, Emanuela, Pompei, Alessandra, Toscano, Maria C, Digilio, Fabrizio, Drago, Antonio, Novelli, Anwar, Baban

Publikováno v: American journal of medical genetics. Part AREFERENCES. 188(3)

Deletions involving the distal portion of the short arm of chromosome 8(8p23.1) show a high phenotypic variability. Congenital heart diseases (CHD) are often described. GATA4 when mutated or deleted is reported to be involved in cardiac morphogenesis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1f334a0bc5bd1927e5b9d3f987347cf2
https://pubmed.ncbi.nlm.nih.gov/34897976

A soil fungus confers plant resistance against a phytophagous insect by disrupting the symbiotic role of its gut microbiota

Autor: Ilaria Di Lelio, Giobbe Forni, Giulia Magoga, Matteo Brunetti, Daniele Bruno, Andrea Becchimanzi, Maria G. De Luca, Martina Sinno, Eleonora Barra, Marco Bonelli, Sarah Frusciante, Gianfranco Diretto, Maria C. Digilio, Sheridan L. Woo, Gianluca Tettamanti, Rosa Rao, Matteo Lorito, Morena Casartelli, Matteo Montagna, Francesco Pennacchio

Publikováno v: Proceedings of the National Academy of Sciences. 120(10)

Plants generate energy flows through natural food webs, driven by competition for resources among organisms, which are part of a complex network of multitrophic interactions. Here, we demonstrate that the interaction between tomato plants and a phyto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cb814df0c070e913b09f4fb677136a1