Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
Cold Spring Harbor Molecular Case Studies
Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE
Publication Date: 2018-04
Variant appearance in text: CDK5: 651-38G>T; rs2069459
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Tau phosphorylation pathway genes and cerebrospinal fluid tau levels in Alzheimer's disease.
American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Bekris, Lynn M LM; Millard, Steve S; Lutz, Franziska F; Li, Gail G; Galasko, Doug R DR; Farlow, Martin R MR; Quinn, Joseph F JF; Kaye, Jeffrey A JA; Leverenz, James B JB; Tsuang, Debby W DW; Yu, Chang-En CE; Peskind, Elaine R ER
No association of CDK5 genetic variants with Alzheimer's disease risk.
Bmc Medical Genetics
Vázquez-Higuera, José Luis JL; Mateo, Ignacio I; Sánchez-Juan, Pascual P; Rodríguez-Rodríguez, Eloy E; Infante, Jon J; Berciano, José J; Combarros, Onofre O