Open Access. Powered by Scholars. Published by Universities.®
Articles 1 - 3 of 3
Full-Text Articles in Medicine and Health Sciences
Assessing The Importance Of Interleukin-6 In Covid-19 - Authors' Reply., D. E. Leisman, L. Ronner, R. Pinotti, M. D. Taylor, P. Sinha, C. S. Calfee, A. V. Hirayama, F. Mastroianni, C. J. Turtle, C. S. Deutschman, +2 Additional Authors
Assessing The Importance Of Interleukin-6 In Covid-19 - Authors' Reply., D. E. Leisman, L. Ronner, R. Pinotti, M. D. Taylor, P. Sinha, C. S. Calfee, A. V. Hirayama, F. Mastroianni, C. J. Turtle, C. S. Deutschman, +2 Additional Authors
Journal Articles
No abstract provided.
The Impact Of Perinatal Severe Acute Respiratory Syndrome Coronavirus 2 Infection During The Peripartum Period., O. Janssen, M. Thompson, S. Milburn, R. Green, B. Wagner, A. Bianco, A. Stroustrup
The Impact Of Perinatal Severe Acute Respiratory Syndrome Coronavirus 2 Infection During The Peripartum Period., O. Janssen, M. Thompson, S. Milburn, R. Green, B. Wagner, A. Bianco, A. Stroustrup
Journal Articles
No abstract provided.
Genotype-Phenotype Association And Variant Characterization In Diamond-Blackfan Anemia Caused By Pathogenic Variants In, M. D. Gianferante, M. W. Wlodarski, E. Atsidaftos, L. Da Costa, P. Delaporta, J. E. Farrar, M. Hussain, J. M. Lipton, A. Vlachos, N. Giri, +11 Additional Authors
Genotype-Phenotype Association And Variant Characterization In Diamond-Blackfan Anemia Caused By Pathogenic Variants In, M. D. Gianferante, M. W. Wlodarski, E. Atsidaftos, L. Da Costa, P. Delaporta, J. E. Farrar, M. Hussain, J. M. Lipton, A. Vlachos, N. Giri, +11 Additional Authors
Journal Articles
Diamond Blackfan anemia (DBA) is predominantly an autosomal dominant inherited red cell aplasia primarily caused by pathogenic germline variants in ribosomal protein genes. DBA due to pathogenic RPL35A variants has been associated with large 3q29 deletions and phenotypes not common in DBA. We conducted a multi-institutional genotype-phenotype study of 45 patients with DBA associated with pathogenic RPL35A germline variants and curated the variant data on 21 additional cases from the literature. Genotype-phenotype analyses were conducted comparing patients with large deletions versus all other pathogenic variants in RPL35A. Twenty-two of the 45 cases had large deletions in RPL35A. After adjusting for …