Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Plos One
Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F
Publication Date: 2021
Variant appearance in text: ADAMTS13: R1096H; rs61751476
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: ADAMTS13: R1096H; rs61751476
Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.
Research And Practice In Thrombosis And Haemostasis
Fidalgo, Teresa T; Martinho, Patrícia P; Pinto, Catarina S CS; Oliveira, Ana C AC; Salvado, Ramon R; Borràs, Nina N; Coucelo, Margarida M; Manco, Licínio L; Maia, Tabita T; Mendes, M João MJ; Del Orbe Barreto, Rafael R; Corrales, Irene I; Vidal, Francisco F; Ribeiro, M Letícia ML
Publication Date: 2017-07
Variant appearance in text: ADAMTS13: 3287G>A; Arg1096His; rs61751476
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05
Variant appearance in text: ADAMTS13: R1096H; rs61751476
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: ADAMTS13: R1096H; rs61751476
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Partial ADAMTS13 deficiency in atypical hemolytic uremic syndrome.
Blood
Feng, Shuju S; Eyler, Stephen J SJ; Zhang, Yuzhou Y; Maga, Tara T; Nester, Carla M CM; Kroll, Michael H MH; Smith, Richard J RJ; Afshar-Kharghan, Vahid V
Publication Date: 2013-08-22
Variant appearance in text: ADAMTS13: 3287G>A; R1096H; rs61751476