LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.
Frontiers In Genetics
Cesar, Sergi S; Coll, Monica M; Fiol, Victoria V; Fernandez-Falgueras, Anna A; Cruzalegui, Jose J; Iglesias, Anna A; Moll, Isaac I; Perez-Serra, Alexandra A; Martínez-Barrios, Estefanía E; Ferrer-Costa, Carles C; Del Olmo, Bernat B; Puigmulè, Marta M; Alcalde, Mireia M; Lopez, Laura L; Pico, Ferran F; Berrueco, Rubén R; Brugada, Josep J; Zschaeck, Irene I; Natera-de Benito, Daniel D; Carrera-García, Laura L; Exposito-Escudero, Jessica J; Ortez, Carlos C; Nascimento, Andrés A; Brugada, Ramon R; Sarquella-Brugada, Georgia G; Campuzano, Oscar O
Publication Date: 2023
Variant appearance in text: GAA: 1781G>A; Arg594His; rs775450536
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
International Journal Of Neonatal Screening
Burton, Barbara K BK; Charrow, Joel J; Hoganson, George E GE; Fleischer, Julie J; Grange, Dorothy K DK; Braddock, Stephen R SR; Hitchins, Lauren L; Hickey, Rachel R; Christensen, Katherine M KM; Groepper, Daniel D; Shryock, Heather H; Smith, Pamela P; Shao, Rong R; Basheeruddin, Khaja K
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Human Mutation
Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,
Publication Date: 2019-11
Variant appearance in text: GAA: 1781G>A; Arg594His
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Nature Communications
Roig-Zamboni, Véronique V; Cobucci-Ponzano, Beatrice B; Iacono, Roberta R; Ferrara, Maria Carmina MC; Germany, Stanley S; Bourne, Yves Y; Parenti, Giancarlo G; Moracci, Marco M; Sulzenbacher, Gerlind G
Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.
Bmc Medical Genetics
Liu, Xiao X; Wang, Zhaoxia Z; Jin, Weina W; Lv, He H; Zhang, Wei W; Que, Chengli C; Huang, Yu Y; Yuan, Yun Y