Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family

by Hélène Mathieu, Shunmoogum A. Patten, Jose Antonio Aragon-Martin, Louise Ocaka, Michael Simpson, Anne Child, Florina Moldovan
Published 2021-05-01

Prevalence of <i>POC5</i> Coding Variants in French-Canadian and British AIS Cohort

by Hélène Mathieu, Aurélia Spataru, José Antonio Aragon-Martin, Anne Child, Soraya Barchi, Carole Fortin, Stefan Parent, Florina Moldovan
Published 2021-07-01

Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactions.

by Amani Hassan, Stefan Parent, Hélène Mathieu, Charlotte Zaouter, Sirinart Molidperee, Edward T Bagu, Soraya Barchi, Isabelle Villemure, Shunmoogum A Patten, Florina Moldovan
Published 2019-01-01