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Page 1
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Wynn RF, Laxer RM, Minniti CP, Moppett J, Bordon V, Geraghty M, Joyce PB, Markianos K, Rudner AD, Holcik M, Fleming MD. Chakraborty PK, et al. Among authors: durie d. Blood. 2014 Oct 30;124(18):2867-71. doi: 10.1182/blood-2014-08-591370. Epub 2014 Sep 5. Blood. 2014. PMID: 25193871 Free PMC article.
Plasma soluble fms-like tyrosine kinase 1 to placental growth factor ratio of 11.5 multiples of median predicts preeclampsia with severe features within 2 weeks of testing.
Espinoza J, Calsavara VF, Kilpatrick S, Rana S, Costantine MM, Boggess K, Wylie BJ, Moore Simas TA, Louis JM, Gaw SL, Murtha A, Wiegand S, Gollin Y, Singh D, Silver RM, Durie DE, Panda B, Norwitz ER, Burd I, Plunkett B, Scott RK, Lemoine E, Thadhani R, Karumanchi SA. Espinoza J, et al. Among authors: durie de. Am J Obstet Gynecol. 2024 Sep;231(3):363.e1-363.e11. doi: 10.1016/j.ajog.2024.05.050. Epub 2024 May 31. Am J Obstet Gynecol. 2024. PMID: 38825028
Circulating Angiogenic Factor Levels in Hypertensive Disorders of Pregnancy.
Thadhani R, Lemoine E, Rana S, Costantine MM, Calsavara VF, Boggess K, Wylie BJ, Moore Simas TA, Louis JM, Espinoza J, Gaw SL, Murtha A, Wiegand S, Gollin Y, Singh D, Silver RM, Durie DE, Panda B, Norwitz ER, Burd I, Plunkett B, Scott RK, Gaden A, Bautista M, Chang Y, Diniz MA, Karumanchi SA, Kilpatrick S. Thadhani R, et al. Among authors: durie de. NEJM Evid. 2022 Dec;1(12):EVIDoa2200161. doi: 10.1056/EVIDoa2200161. Epub 2022 Nov 9. NEJM Evid. 2022. PMID: 38319832
20 results