Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.
Clinics (Sao Paulo, Brazil)
Quedas, Elisangela P S EP; Longuini, Viviane C VC; Sekiya, Tomoko T; Coutinho, Flavia L FL; Toledo, Sergio P A SP; Tannuri, Uenis U; Toledo, Rodrigo A RA
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
American Journal Of Human Genetics
Emison, Eileen Sproat ES; Garcia-Barcelo, Merce M; Grice, Elizabeth A EA; Lantieri, Francesca F; Amiel, Jeanne J; Burzynski, Grzegorz G; Fernandez, Raquel M RM; Hao, Li L; Kashuk, Carl C; West, Kristen K; Miao, Xiaoping X; Tam, Paul K H PK; Griseri, Paola P; Ceccherini, Isabella I; Pelet, Anna A; Jannot, Anne-Sophie AS; de Pontual, Loic L; Henrion-Caude, Alexandra A; Lyonnet, Stanislas S; Verheij, Joke B G M JB; Hofstra, Robert M W RM; Antiñolo, Guillermo G; Borrego, Salud S; McCallion, Andrew S AS; Chakravarti, Aravinda A
Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.
Plos One
Cornes, Belinda K BK; Tang, Clara S CS; Leon, Thomas Y Y TY; Hui, Kenneth J W S KJ; So, Man-Ting MT; Miao, Xiaoping X; Cherny, Stacey S SS; Sham, Pak C PC; Tam, Paul K H PK; Garcia-Barcelo, Maria-Merce MM