Juvenile idiopathic arthritis with systemic onset with inflammatory bone lesions: two case reports of patients successfully treated with canakinumab and experience gained from literature.
Frontiers In Pediatrics
Alexeeva, Ekaterina I EI; Dvoryakovskaya, Tatyana M TM; Tsulukiya, Irina T IT; Kondrateva, Natalia M NM; Solomatina, Natalia M NM; Kondratiev, Gleb V GV; Peshekhonova, Luliia V LV; Kostik, Mikhail M MM
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08
Variant appearance in text: MEFV: 2282G>A; Arg761His
A library of induced pluripotent stem cells from clinically well-characterized, diverse healthy human individuals.
Stem Cell Reports
Schaniel, Christoph C; Dhanan, Priyanka P; Hu, Bin B; Xiong, Yuguang Y; Raghunandan, Teeya T; Gonzalez, David M DM; Dariolli, Rafael R; D'Souza, Sunita L SL; Yadaw, Arjun S AS; Hansen, Jens J; Jayaraman, Gomathi G; Mathew, Bino B; Machado, Moara M; Berger, Seth I SI; Tripodi, Joseph J; Najfeld, Vesna V; Garg, Jalaj J; Miller, Marc M; Surlyn, Colleen S CS; Michelis, Katherine C KC; Tangirala, Neelima C NC; Weerahandi, Himali H; Thomas, David C DC; Beaumont, Kristin G KG; Sebra, Robert R; Mahajan, Milind M; Schadt, Eric E; Vidovic, Dusica D; Schürer, Stephan C SC; Goldfarb, Joseph J; Azeloglu, Evren U EU; Birtwistle, Marc R MR; Sobie, Eric A EA; Kovacic, Jason C JC; Dubois, Nicole C NC; Iyengar, Ravi R
Publication Date: 2021-12-14
Variant appearance in text: MEFV: 2282G>A; rs104895097
Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever.
Journal Of Clinical Medicine
Arici, Zehra Serap ZS; Romano, Micol M; Piskin, David D; Guzel, Ferhat F; Sahin, Sezgin S; Berard, Roberta A RA; Yilmaz, Mahmut I MI; Demirkaya, Erkan E
Familial Mediterranean fever in Jordanian Children: single centre experience.
Mediterranean Journal Of Rheumatology
Alzyoud, Raed R; Alsweiti, Motasem M; Maittah, Hiba H; Zreqat, Ehab E; Alwahadneh, Adel A; Abu-Shukair, Mohammed M; Habahbeh, Lana L; Mutereen, Mohammed M
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: MEFV: 2282G>A; rs104895097