Výsledky vyhledávání - "Kevin Pirelli"

Molecular determination of RHD zygosity:predicting risk of hemolytic disease of the fetus and newborn related to anti-D

Autor: Bradley C. Pietz, Susan T. Johnson, Holly L. Pinder, Kevin Pirelli, Daniel B. Bellissimo

Publikováno v: Prenatal Diagnosis. 30:1207-1212

Objective Development of an accurate molecular method for paternal RHD zygosity to predict risk to a fetus for hemolytic disease of the fetus and newborn (HDFN) related to anti-D. Methods Quantitative fluorescence polymerase chain reaction (QF-PCR) w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f84d940c8bcb86e4a45c80fa97174058
https://doi.org/10.1002/pd.2652

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Laboratory-Developed MLPA® Probes Enable CNV Detection in the CFHR4 Gene to Aid aHUS Genetic Evaluation

Autor: Rupa A Udani, Kenneth D. Friedman, Curt Czajkowski, Veronika Mladenova, Kevin Pirelli, Stefanie N Dugan, Valerie Trapp-Stamborski

Publikováno v: Blood. 128:1361-1361

Large copy number variants (CNVs) such as deletions in the regulator of complement activation (RCA) gene cluster (CFH, CFHR3, CFHR1, CFHR4, CFHR2, CFHR5) are associated with elevated risk for atypical hemolytic uremic syndrome (aHUS), a complement re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5412d1bf5b53b0cf72d433270191fc82
https://doi.org/10.1182/blood.v128.22.1361.1361

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Molecular determination of RHD zygosity

Autor: Bradley C. Pietz, Susan R. Johnson, Kevin Pirelli, Holly L. Pinder, Daniel B. Bellissimo

Publikováno v: American Journal of Obstetrics and Gynecology. 195:S172

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b45db06a38aba0ce04d0a2d41bf90363
https://doi.org/10.1016/j.ajog.2006.10.612

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Validation of Multiplex Polymorphic STR Amplification Sets Developed for Personal Identification Applications

Autor: Barbara W. Koons, Nicola Duda, Maosheng Ma, Kevin Pirelli, Cynthia J. Sprecher, Debra J. Endean, Catherine T. Comey, Katherine A. Micka, Steven B. Lee, James W. Schumm, Ann M. Lins, Cecelia A. Crouse

Publikováno v: Journal of Forensic Sciences. 41:13959J

Polymorphic short tandem repeat (STR) loci, which typically consist of variations in the number of 3-7 base pair repeats present at a site, provide an effective means of personal identification. Typing can be accomplished by amplification of genomic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::42859cb354de77947c9f26098f143501
https://doi.org/10.1520/jfs13959j

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