Results 141 to 150 of about 122,027 (274)
International Expert Opinion on Standard of Care for Patients With Schinzel‐Giedion Syndrome: A Modified Delphi Study
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Schinzel‐Giedion Syndrome (SGS) is an ultra‐rare, multisystem, genetic developmental disorder caused by gain‐of‐function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method.Jessica Duis, Laura Agresta, William E. Bennett Jr, Henry Chambers, Antonia Clarke, Charlie Fairhurst, Julie Hoover‐Fong, Feilim Murphy, Garey Noritz, Scott Schwantes, Michael Shreve, Kabelo Thusang, Darcy Weidemann, Rebecca Beale, Aditi Mehta, Andrew Wilhelmsen, Nuala Summerfield +16 morewiley +1 more sourceNanopore Sequencing Solves an Elusive Case of Sotos Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.Pasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, Francesca Del Vecchio Blanco, Mariateresa Zanobio, Margherita Scarpato, Margherita Russo, Maria Elena Onore, Giulio Piluso, TUDP Study Group, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Manuela Morleo, Nicola Brunetti Pierri, Giancarlo Parenti, Carmine Spampanato, Giulio Piluso, Michele Pinelli, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Andrea Accogli, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Donatella Milani, Corrado Romano, Pinella Failla, Donatella Greco, Chiara Pantaleoni, Claudia Ciaccio, Stefano D’Arrigo, Antonietta Coppola, Teresa Mattina, Marcella Zollino, Domizia Pasquetti, Federica L. Erario, Albina Tummolo, Claudia Santoro, Anna Grandone, Livia Garavelli, Carla Marini, Stefania Bigoni, Carmelo Piscopo, Antonio Trabacca, Marta De Rinaldis, Vincenzo Nigro, Gioacchino Scarano, Annalaura Torella +52 morewiley +1 more sourceA companion to the preclinical common data elements for genomics, transcriptomics, and epigenomics data in rodent epilepsy models. A report of the TASK3‐WG4 omics working group of the ILAE/AES joint translational TASK force
Epilepsia Open, EarlyView., 2022 Abstract
The International League Against Epilepsy/American Epilepsy Society (ILAE/AES) Joint Translational Task Force established the TASK3 working groups to create common data elements (CDEs) for various preclinical epilepsy research disciplines. The aim of the CDEs is to improve the standardization of experimental designs across a range of epilepsy ...Erwin A. van Vliet, Michael S. Hildebrand, James D. Mills, Gary P. Brennan, Tore Eid, Susan A. Masino, Vicky Whittemore, Laura Bindila, Kevin K. Wang, Manisha Patel, Piero Perucca, Christopher A. Reid +11 morewiley +1 more sourceRapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype
, 2011 Pia Østergaard, Michael A. Simpson, Glen Brice, Sahar Mansour, Fiona Connell, Alexandros Onoufriadis, A. H. Child, Jun‐Eul Hwang, Kamini Kalidas, Peter Mortimer, Richard C. Trembath, Steve Jeffery +11 moreopenalex +2 more sourcesAbnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre +11 morewiley +1 more source
