Search Results - "Willis, Alecia S."

Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis by Willis, Alecia S., van den Veyver, Ignatia, Eng, Christine M.

“…ABSTRACT Multiplex ligation‐dependent probe amplification (MLPA) is a recent technique for the relative quantitation of up to 40 to 45 nucleic acid targets…”
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Lysinuric Protein Intolerance Presenting with Multiple Fractures by Posey, Jennifer E, Burrage, Lindsay C, Miller, Marcus J, Liu, Pengfei, Hardison, Matthew T, Elsea, Sarah H, Sun, Qin, Yang, Yaping, Willis, Alecia S, Schlesinger, Alan E, Bacino, Carlos A, Lee, Brendan H

“…Lysinuric protein intolerance (LPI) is a rare autosomal recessive inborn error of metabolism caused by mutations in , which encodes a component of the dibasic…”
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Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome by Vatta, Matteo, Niu, Zhiyv, Lupski, James R., Putnam, Philip, Spoonamore, Katherine G., Fang, Ping, Eng, Christine M., Willis, Alecia S.

“…Haploinsufficiency of CHD7 (OMIM# 608892) is known to cause CHARGE syndrome (OMIM# 214800). Molecular testing supports a definitive diagnosis in approximately…”
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Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation by Mendiratta, Meenal S, Yang, Yaping, Balazs, Andrea E, Willis, Alecia S, Eng, Christine M, Karaviti, Lefkothea P, Potocki, Lorraine

“…Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by homozygous or compound heterozygous mutations in the gene encoding…”
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An ethnic-specific polymorphism in the catalytic subunit of glutamate-cysteine ligase impairs the production of glutathione intermediates in vitro by Le, Truc M., Willis, Alecia S., Barr, Frederick E., Cunningham, Gary R., Canter, Jeffrey A., Owens, Sarah E., Apple, Rachel K., Ayodo, George, Reich, David, Summar, Marshall L.

“…Glutathione plays a crucial role in free radical scavenging, oxidative injury, and cellular homeostasis. Previously, we identified a non-synonymous…”
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Ethnic diversity in a critical gene responsible for glutathione synthesis by Willis, Alecia S, Freeman, Michael L, Summar, Samantha R, Barr, Frederick E, Williams, Scott M, Dawson, Elliott, Summar, Marshall L

“…The tripeptide glutathione is an important biomolecule that acts as a scavenger of free radicals and plays a role in a number of other cellular processes. A…”
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An Insertion/Deletion Polymorphism in the Glutathione Biosynthesis Pathway Is Associated with Earlier Onset of Alzheimer's Disease and Increased Susceptibility to Oxidant Injury In Vitro by Le, Truc M., Willis, Alecia S., Haines, Jonathan L., Summar, Marshall L., Cornfield, David N.

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Genetic and environmental interactions in glutathione production by Willis, Alecia S

“…This project deals with polymorphisms, their functional consequences, and their association with diseases or complications of diseases or procedures. I chose…”
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Lysinuric Protein Intolerance Presenting with Multiple Fractures by Posey, Jennifer E, Burrage, Lindsay C, Miller, Marcus J, Liu, Pengfei, Hardison, Matthew T, Elsea, Sarah H, Sun, Qin, Yang, Yaping, Willis, Alecia S, Schlesinger, Alan E, Bacino, Carlos A, Lee, Brendan H

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