A novel hotspot of gelsolin instability triggers an alternative mechanism of amyloid aggregation

por Michela Bollati, Luisa Diomede, Toni Giorgino, Carmina Natale, Elisa Fagnani, Irene Boniardi, Alberto Barbiroli, Rebecca Alemani, Marten Beeg, Marco Gobbi, Ana Fakin, Eloise Mastrangelo, Mario Milani, Gianluca Presciuttini, Edi Gabellieri, Patrizia Cioni, Matteo de Rosa
Publicado 2021

Clinics and genetic background of hereditary gingival fibromatosis

por Karolina Strzelec, Agata Dziedzic, Katarzyna Łazarz-Bartyzel, Aleksander M. Grabiec, Ewa Gutmajster, Tomasz Kaczmarzyk, Paweł Plakwicz, Katarzyna Gawron
Publicado 2021

Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method

por Yanchou Ye, Weihao Li, Guan Wang, Longsheng Zhan, Junwei Lin, Tian Li, Jun Zhang
Publicado 2021

Retroperitoneal leiomyosarcoma in a female patient with a germline splicing variant RAD51D c.904-2A > T: a case report

por Mashu Futagawa, Hideki Yamamoto, Mariko Kochi, Yusaku Urakawa, Reimi Sogawa, Fumino Kato, Mika Okazawa-Sakai, Daisuke Ennishi, Katsunori Shinozaki, Hirofumi Inoue, Hiroyuki Yanai, Akira Hirasawa
Publicado 2021

Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy

por Elena V. Filatova, Natalia S. Krylova, Ivan N. Vlasov, Maria S. Maslova, Natalia G. Poteshkina, Petr A. Slominsky, Maria I. Shadrina
Publicado 2021

The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges

por Rebecca Jeyaraj, Kirsten McKay Bounford, Nicola Ruth, Carla Lloyd, Fiona MacDonald, Christian J. Hendriksz, Ulrich Baumann, Paul Gissen, Deirdre Kelly
Publicado 2021

Exploring the Pool of Pathogenic Variants of Amelogenesis Imperfecta: An Approach to the Understanding of Its Genetic Architecture

por Blanca Urzúa, Ana Ortega-Pinto, Daniela Adorno-Farias, Irene Morales-Bozo, Sandra Rojas-Flores, Diego Briones-Marín, Constanza Lepiman-Torres
Publicado 2021

Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex

por Xiaojing Xu, Juan Zhao, Chao Wang, Xiaoxuan Qu, Menglong Ran, Menglong Ran, Fang Ye, Ming Shen, Kundi Wang, Qi Zhang
Publicado 2021

Frequency of allele variations in the CFTR gene in a Mexican population

por Consuelo Cantú-Reyna, Roberto Galindo-Ramírez, Mercedes Vázquez-Cantú, Lorenza Haddad-Talancón, Willebaldo García-Muñoz
Publicado 2021