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MEFV mutations in Behcet's disease.
Touitou I, Magne X, Molinari N, Navarro A, Quellec AL, Picco P, Seri M, Ozen S, Bakkaloglu A, Karaduman A, Garnier JM, Demaille J, Koné-Paut I. Touitou I, et al. Hum Mutat. 2000 Sep;16(3):271-2. doi: 10.1002/1098-1004(200009)16:3<271::AID-HUMU16>3.0.CO;2-A. Hum Mutat. 2000. PMID: 10980540
Familial Mediterranean fever (FMF) and Behcet's disease (BD), both inflammatory diseases, are highly prevalent in the Middle Eastern and Mediterranean populations. ...
Familial Mediterranean fever (FMF) and Behcet's disease (BD), both inflammatory diseases, are highly prevalent in the Middle E …
Filter-Associated Inferior Vena Cava Thrombosis with Duodenal Perforation: Case Report and Literature Review.
Chassin-Trubert L, Prouse G, Ozdemir BA, Lounes Y, Alonso W, Clapiès M, Alric P, Canaud L. Chassin-Trubert L, et al. Ann Vasc Surg. 2019 Jul;58:383.e1-383.e6. doi: 10.1016/j.avsg.2018.11.021. Epub 2019 Feb 11. Ann Vasc Surg. 2019. PMID: 30763706 Review.
BACKGROUND: The aim of this article is to report a case of filter-associated inferior vena cava (IVC) thrombosis with perforation of the duodenum and penetration of a vertebral body by the filter struts. CASE REPORT: A 37-year-old woman with a medical history of Behcet' …
BACKGROUND: The aim of this article is to report a case of filter-associated inferior vena cava (IVC) thrombosis with perforation of the duo …
Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.
Verploegen MFA, Vargas-Poussou R, Walsh SB, Alpay H, Amouzegar A, Ariceta G, Atmis B, Bacchetta J, Bárány P, Baron S, Bayrakci US, Belge H, Besouw M, Blanchard A, Bökenkamp A, Boyer O, Burgmaier K, Calò LA, Decramer S, Devuyst O, van Dyck M, Ferraro PM, Fila M, Francisco T, Ghiggeri GM, Gondra L, Guarino S, Hooman N, Hoorn EJ, Houillier P, Kamperis K, Kari JA, Konrad M, Levtchenko E, Lucchetti L, Lugani F, Marzuillo P, Mohidin B, Neuhaus TJ, Osman A, Papizh S, Perelló M, Rookmaaker MB, Conti VS, Santos F, Sawaf G, Serdaroglu E, Szczepanska M, Taroni F, Topaloglu R, Trepiccione F, Vidal E, Wan ER, Weber L, Yildirim ZY, Yüksel S, Zlatanova G, Bockenhauer D, Emma F, Nijenhuis T. Verploegen MFA, et al. Nephrol Dial Transplant. 2022 Nov 23;37(12):2474-2486. doi: 10.1093/ndt/gfac029. Nephrol Dial Transplant. 2022. PMID: 35137195 Free PMC article.
Aetiology, course and treatment of acute tubulointerstitial nephritis in paediatric patients: a cross-sectional web-based survey.
Wente-Schulz S, Aksenova M, Awan A, Ambarsari CG, Becherucci F, Emma F, Fila M, Francisco T, Gokce I, Gülhan B, Hansen M, Jahnukainen T, Kallash M, Kamperis K, Mason S, Mastrangelo A, Mencarelli F, Niwinska-Faryna B, Riordan M, Rus RR, Saygili S, Serdaroglu E, Taner S, Topaloglu R, Vidal E, Woroniecki R, Yel S, Zieg J, Pape L; international TIN study group. Wente-Schulz S, et al. BMJ Open. 2021 May 28;11(5):e047059. doi: 10.1136/bmjopen-2020-047059. BMJ Open. 2021. PMID: 34049919 Free PMC article.
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Hazan F, Moldovan O, Wieczorek D, Mikat B, Petit F, Coubes C, Saul RA, Brice G, Gordon K, Jeffery S, Mortimer PS, Vasudevan PC, Mansour S. Jones GE, et al. Eur J Hum Genet. 2014 Jul;22(7):881-7. doi: 10.1038/ejhg.2013.263. Epub 2013 Nov 27. Eur J Hum Genet. 2014. PMID: 24281367 Free PMC article.
COVID-19 infection among patients with autoinflammatory diseases: a study on 117 French patients compared with 1545 from the French RMD COVID-19 cohort: COVIMAI - the French cohort study of SARS-CoV-2 infection in patient with systemic autoinflammatory diseases.
Bourguiba R, Kyheng M, Koné-Paut I, Rouzaud D, Avouac J, Devaux M, Abdallah NA, Fautrel B, Ferreira-Maldent N, Langlois V, Ledoult E, Nielly H, Queyrel V, Sellam J, Tieulie N, Chazerain P, Evon P, Labreuche J, Savey L, Hentgen V, Grateau G, Georgin-Lavialle S; FAI2R/SFR/SNFMI/SOFREMIP/CRI/IMIDIATE consortium and contributors. Bourguiba R, et al. RMD Open. 2022 May;8(1):e002063. doi: 10.1136/rmdopen-2021-002063. RMD Open. 2022. PMID: 35537796 Free PMC article.
RESULTS: We identified 117 patients with SAID (sex ratio 0.84, 17 children) and compared them with 1545 patients with non-autoinflammatory immune-mediated inflammatory disorders (non-SAID). 67 patients had a monogenic SAID (64 with familial Mediterranean fever). Other SAIDs were …
RESULTS: We identified 117 patients with SAID (sex ratio 0.84, 17 children) and compared them with 1545 patients with non-autoinflammatory i …
Global Variation of Nutritional Status in Children Undergoing Chronic Peritoneal Dialysis: A Longitudinal Study of the International Pediatric Peritoneal Dialysis Network.
Schaefer F, Benner L, Borzych-Dużałka D, Zaritsky J, Xu H, Rees L, Antonio ZL, Serdaroglu E, Hooman N, Patel H, Sever L, Vondrak K, Flynn J, Rébori A, Wong W, Hölttä T, Yildirim ZY, Ranchin B, Grenda R, Testa S, Drożdz D, Szabo AJ, Eid L, Basu B, Vitkevic R, Wong C, Pottoore SJ, Müller D, Dusunsel R, Celedon CG, Fila M, Sartz L, Sander A, Warady BA; International Pediatric Peritoneal Dialysis Network (IPPN) Registry. Schaefer F, et al. Sci Rep. 2019 Mar 20;9(1):4886. doi: 10.1038/s41598-018-36975-z. Sci Rep. 2019. PMID: 30894599 Free PMC article.