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306 results

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Page 1
Diagnostic biomarkers to differentiate sepsis from cytokine release syndrome in critically ill children.
Diorio C, Shaw PA, Pequignot E, Orlenko A, Chen F, Aplenc R, Barrett DM, Bassiri H, Behrens E, DiNofia AM, Gonzalez V, Koterba N, Levine BL, Maude SL, Meyer NJ, Moore JH, Paessler M, Porter DL, Bush JL, Siegel DL, Davis MM, Zhang D, June CH, Grupp SA, Melenhorst JJ, Lacey SF, Weiss SL, Teachey DT. Diorio C, et al. Among authors: behrens e. Blood Adv. 2020 Oct 27;4(20):5174-5183. doi: 10.1182/bloodadvances.2020002592. Blood Adv. 2020. PMID: 33095872 Free PMC article.
Combined use of emapalumab and ruxolitinib in a patient with refractory hemophagocytic lymphohistiocytosis was safe and effective.
Triebwasser MP, Barrett DM, Bassiri H, Bunin N, Elgarten C, Freedman J, Geera AS, Monos D, Lambert MP, Olson T, Seif AE, Paessler M, Petrosa W, Reilly AF, Romberg N, Sullivan KE, Quinn GZ, Behrens E, Teachey DT. Triebwasser MP, et al. Among authors: behrens e. Pediatr Blood Cancer. 2021 Jul;68(7):e29026. doi: 10.1002/pbc.29026. Epub 2021 Mar 22. Pediatr Blood Cancer. 2021. PMID: 33754483 Free PMC article. No abstract available.
Diagnostic Challenges in Pediatric Hemophagocytic Lymphohistiocytosis.
Si SJ, Tasian SK, Bassiri H, Fisher BT, Atalla J, Patel R, Romberg N, Lambert MP, Paessler M, Behrens EJ, Teachey DT, Sullivan KE. Si SJ, et al. Among authors: behrens ej. J Clin Immunol. 2021 Aug;41(6):1213-1218. doi: 10.1007/s10875-021-01025-3. Epub 2021 Mar 24. J Clin Immunol. 2021. PMID: 33761058 Free PMC article.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Genet Med. 2021 Oct;23(10):2016. doi: 10.1038/s41436-021-01306-7. Genet Med. 2021. PMID: 34522029 Free article. No abstract available.
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ; Undiagnosed Diseases Network; Sunyaev SR, Kohane IS. Kobren SN, et al. Genet Med. 2021 Jun;23(6):1075-1085. doi: 10.1038/s41436-020-01084-8. Epub 2021 Feb 12. Genet Med. 2021. PMID: 33580225 Free PMC article.
306 results