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Page 1
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MCV, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, Gahl WA, Wolfe LA. Lam C, et al. Among authors: rosenzweig sd. Mol Genet Metab. 2015 Jun-Jul;115(2-3):128-140. doi: 10.1016/j.ymgme.2015.04.007. Epub 2015 May 1. Mol Genet Metab. 2015. PMID: 25943031 Free PMC article.
Glycosylation, hypogammaglobulinemia, and resistance to viral infections.
Sadat MA, Moir S, Chun TW, Lusso P, Kaplan G, Wolfe L, Memoli MJ, He M, Vega H, Kim LJY, Huang Y, Hussein N, Nievas E, Mitchell R, Garofalo M, Louie A, Ireland DC, Grunes C, Cimbro R, Patel V, Holzapfel G, Salahuddin D, Bristol T, Adams D, Marciano BE, Hegde M, Li Y, Calvo KR, Stoddard J, Justement JS, Jacques J, Priel DAL, Murray D, Sun P, Kuhns DB, Boerkoel CF, Chiorini JA, Di Pasquale G, Verthelyi D, Rosenzweig SD. Sadat MA, et al. Among authors: rosenzweig sd. N Engl J Med. 2014 Apr 24;370(17):1615-1625. doi: 10.1056/NEJMoa1302846. Epub 2014 Apr 9. N Engl J Med. 2014. PMID: 24716661 Free PMC article.
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein WM, Lehky T, Brewer C, Baker EH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala S, Ghany MG, Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L. Lam C, et al. Among authors: rosenzweig sd. Genet Med. 2017 Feb;19(2):160-168. doi: 10.1038/gim.2016.75. Epub 2016 Jul 7. Genet Med. 2017. PMID: 27388694 Free PMC article.
Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry.
Carlson RJ, Bond MR, Hutchins S, Brown Y, Wolfe LA, Lam C, Nelson C, DiMaggio T, Jones N, Rosenzweig SD, Stone KD, Freeman AF, Holland SM, Hanover JA, Milner JD, Lyons JJ. Carlson RJ, et al. Among authors: rosenzweig sd. J Allergy Clin Immunol. 2017 Jul;140(1):291-294.e4. doi: 10.1016/j.jaci.2016.12.951. Epub 2017 Jan 4. J Allergy Clin Immunol. 2017. PMID: 28063873 Free PMC article. No abstract available.
Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.
Kuehn HS, Niemela JE, Sreedhara K, Stoddard JL, Grossman J, Wysocki CA, de la Morena MT, Garofalo M, Inlora J, Snyder MP, Lewis DB, Stratakis CA, Fleisher TA, Rosenzweig SD. Kuehn HS, et al. Among authors: rosenzweig sd. Blood. 2017 Sep 28;130(13):1553-1564. doi: 10.1182/blood-2017-05-782177. Epub 2017 Aug 4. Blood. 2017. PMID: 28778864 Free PMC article.
Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient.
McDermott DH, Heusinkveld LE, Zein WM, Sen HN, Marquesen MM, Parta M, Rosenzweig SD, Fahle GA, Keller MD, Wiley HE, Murphy PM. McDermott DH, et al. Among authors: rosenzweig sd. F1000Res. 2019 Jan 2;8:2. doi: 10.12688/f1000research.16825.2. eCollection 2019. F1000Res. 2019. PMID: 31249677 Free PMC article.
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.
Kuehn HS, Niemela JE, Stoddard J, Mannurita SC, Shahin T, Goel S, Hintermeyer M, Heredia RJ, Garofalo M, Lucas L, Singh S, Tondo A, Jacobs Z, Gahl WA, Latour S, Verbsky J, Routes J, Cunningham-Rundles C, Boztug K, Gambineri E, Fleisher TA, Chandrakasan S, Rosenzweig SD. Kuehn HS, et al. Among authors: rosenzweig sd. Blood. 2021 Jan 21;137(3):349-363. doi: 10.1182/blood.2020007292. Blood. 2021. PMID: 32845957 Free PMC article.
Cushing syndrome and glucocorticoids: T-cell lymphopenia, apoptosis, and rescue by IL-21.
Hwang S, Tatsi C, Kuehn HS, Niemela JE, Stoddard J, Su Y, Lodish M, Uzel G, Spolski R, Leonard WJ, Holland SM, Fleisher TA, Stratakis CA, Rosenzweig SD. Hwang S, et al. Among authors: rosenzweig sd. J Allergy Clin Immunol. 2022 Jan;149(1):302-314. doi: 10.1016/j.jaci.2021.05.031. Epub 2021 Jun 2. J Allergy Clin Immunol. 2022. PMID: 34089750 Free PMC article.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM; UW Center for Mendelian Genomics; Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MCV, Raymond KM, Freeze HH, Wolfe LA. Shimada S, et al. Among authors: rosenzweig sd. J Med Genet. 2022 Jul 5:jmedgenet-2021-108177. doi: 10.1136/jmedgenet-2021-108177. Online ahead of print. J Med Genet. 2022. PMID: 35790351 Free PMC article.
204 results