Economic burden and quality of life of caregivers of patients with sickle cell disease in the United Kingdom and France: a cross-sectional study.

Autor: Besser, Martin, O'Sullivan, Sian Bissell, Bourke, Siobhan, Longworth, Louise, Barcelos, Giovanna Tedesco, Oluboyede, Yemi

Publikováno v: Journal of Patient-Reported Outcomes; 9/26/2024, Vol. 8 Issue 1, p1-12, 12p

Expanding the phenotype of ASXL3 ‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

Autor: Katherine Bergstrom, Nichola Foulds, Yue Si, Anne Slavotinek, John Dean, Evan Reid, Ruth Armstrong, Charlotte W. Ockeloen, Richard Fisher, Maria J. Guillen Sacoto, Dayna Morel, Fowzan S. Alkuraya, Costa Cinzia, Thomas D. Challman, Samantha A. Schrier Vergano, Francisca Milan Zamora, Naomi Meeks, John Pappas, Katheryn Grand, Abhijit Dixit, Julie S. Cohen, Ddd Study, Marjolein H. Willemsen, Serwet Demirdas, Rachel Harrison, Usha Kini, Bertrand Isidor, Patricia Blanchet, Emily Palen, Arjan Bouman, Jagdeep S. Walia, Ruth Newbury-Ecob, Rachel Rabin, Shadi Albaba, Diana Johnson, Paolo Prontera, Paula Girotto, Ange-Line Bruel, Meena Balasubramanian, Nicola K. Ragge, Schaida Schirwani, Deborah L. Renaud, Christopher Cunniff, John M. Graham, Natalie Dykzeul, Swati Naik, Valerie Slegesky, Hessa F Albassam, Maria Giovanna Tedesco, Sally Ann Lynch, Julie Vogt, Natalie Hauser, Dong Li, Deanna Alexis Carere, Benjamin Cogné

Publikováno v: American Journal of Medical Genetics Part A. 185:3446-3458

The study aimed at widening the clinical and genetic spectrum of ASXL3-related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collaborative study, we have undertaken a detailed clinical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b74d3b97d70d41828d697cc1cbcc3cfd
https://doi.org/10.1002/ajmg.a.62465

Demonstrating Benefit-Risk Profiles of Novel Therapeutic Strategies in Kidney Transplantation : Opportunities and Challenges of Real-World Evidence

Autor: Ilkka Helanterä, Jon Snyder, Anders Åsberg, Josep Maria Cruzado, Samira Bell, Christophe Legendre, Hélio Tedesco-Silva, Giovanna Tedesco Barcelos, Yvonne Geissbühler, Luis Prieto, Jennifer B. Christian, Erik Scalfaro, Nancy A. Dreyer

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona

While great progress has been made in transplantation medicine, long-term graft failure and serious side effects still pose a challenge in kidney transplantation. Effective and safe long-term treatments are needed. Therefore, evidence of the lasting

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c10577828497192638b719fc43e08940
http://hdl.handle.net/10138/346519

Demonstrating Benefit-Risk Profiles of Novel Therapeutic Strategies in Kidney Transplantation: Opportunities and Challenges of Real-World Evidence

Autor: Helanterä, Ilkka, Snyder, Jon, Åsberg, Anders, Cruzado, Josep María, Bell, Samira, Legendre, Christophe, Tedesco-Silva, Helio, Barcelos, Giovanna Tedesco, Geissbühler, Yvonne, Prieto, Luisa, Christian, Jennifer B., Scalfaro, Erik, Dreyer, Nancy A.

Publikováno v: Helanterä, Ilkka Snyder, Jon Åsberg, Anders Cruzado, Josep María Bell, Samira Legendre, Christophe Tedesco-Silva, Helio Barcelos, Giovanna Tedesco Geissbühler, Yvonne Prieto, Luisa Christian, Jennifer B. Scalfaro, Erik Dreyer, Nancy A. . Demonstrating Benefit-Risk Profiles of Novel Therapeutic Strategies in Kidney Transplantation: Opportunities and Challenges of Real-World Evidence. Transplant International. 2022, 35
Transplant International

Externí odkaz: http://hdl.handle.net/10852/99340

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in

Autor: Elisabetta, Flex, Valentina, Imperatore, Giovanna, Carpentieri, Alessandro, Bruselles, Andrea, Ciolfi, Simone, Pizzi, Maria Giovanna, Tedesco, Daniela, Rogaia, Amedea, Mencarelli, Giuseppe, Di Cara, Alberto, Verrotti, Stefania, Troiani, Giuseppe, Merla, Marco, Tartaglia, Paolo, Prontera

Publikováno v: Genes

In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfecta (AI) has been described as a novel nosologic entity. This disorder is characterized by skeletal dysplasia (e.g., platyspondyly, short trunk, scoli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b9ffe96533f21e27f9441aab97771aa7
https://pubmed.ncbi.nlm.nih.gov/34573388