Search Results - "Dimnik, L"

A Novel Non-Invasive Assay for the Detection of Rejection Using Cell-Free DNA by Gordon, P.M, Chang, N, Sajid, U, Suresh, V, Dimnik, L, Lamont, R.E, Parboosingh, J.S, Pon, R.T, Isaac, D, Greenway, S.C

Get full text

Identification of New Fas Mutations in a Patient with Autoimmune Lymphoproliferative Syndrome (ALPS) and Eosinophilia by Aspinall, A.I, Pinto, A, Auer, I.A, Bridges, P, Luider, J, Dimnik, L, Patel, K.D, Jorgenson, K, Woodman, R.C

“…Autoimmune lymphoproliferative syndrome (ALPS) is a rare, newly recognized, chronic lymphoproliferative disorder in children and is characterized by…”
Get full text

Immunological and DNA Analysis of Blood Residues from a Surgeon's Kit used in the American Civil War by Newman, Margaret E., Byrne, Greg, Ceri, Howard, Dimnik, Leo S., Bridge, Peter J.

“…A surgical kit owned and used by Dr. Smith Buttermore, assistant surgeon, 31st Virginia Infantry Regiment, during the American Civil War, was donated to the…”
Get full text

Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes by MAN-CHIU POON, CHUI, D. H. K, PATTERSON, M, STAZOZIK, D. M, DIMNIK, L. S, HOAR, D. I

“…We have used two strategies to study 14 hemophilia B families from 11 kindreds for possible carrier detection and prenatal diagnosis. First, we sequentially…”
Get full text

Diagnosis of Duchenne and Becker Muscular Dystrophies by Polymerase Chain Reaction: A Multicenter Study by Chamberlain, J S, Chamberlain, J R, Fenwick, R G, Ward, P A, Caskey, C T, Dimnik, L S, Bech-Hansen, N T, Hoar, D I, Richards, S, Covone, A E, Govanni, R, Abbs, S, Bentley, D R, Bobrow, M, Rysiecki, G, Ray, P N, Boileau, C, Junien, C, Boehm, C, Venne, V L, Fujmura, F K, Spiga, I, Ferrari, M, Tedeschi, S, Bakker, E, Kneppers, A L, van Ommen, G J, Jain, K, Spector, E, Crandall, B, Kiuru, A, Savontaus, M L

“…Objective.—To assess the efficiency, reliability, and ease of use of DNA diagnosis for Duchenne and Becker muscular dystrophies (DMD/BMD) using the polymerase…”
Get full text

The use of DNA probes to establish parental origin in Down syndrome by RUDD, N. L, DIMNIK, L. S, GREENTREE, C, MENDES-CRABB, K, HOAR, D. I

“…Molecular analysis was performed to determine the parental origin of the extra number 21 chromosome in 20 couples following the birth of a child with standard…”
Get full text

Induction of mitochondrial mutations in human cells by methotrexate by Hoar, D I, Dimnik, L S

“…Inhibition of dihydrofolate reductase by the folate analog, methotrexate (MTX) results in a depletion of tetrahydrofolate dependent one carbon transfer…”
Get more information

Micronucleus assay in human fibroblasts: a measure of spontaneous chromosomal instability and mutagen hypersensitivity by Rudd, N L, Hoar, D I, Greentree, C L, Dimnik, L S, Hennig, U G

“…By comparing fibroblast strains derived from individuals exhibiting chromosome instability and/or mutagen hypersensitivity (Cockayne syndrome, ataxia…”
Get more information

Factors distinguishing couples at risk for nondisjunction by Rudd, N L, Hoar, D I, Martin, R H, Kemp, D, Dimnik, L

“…Micronucleus frequencies were determined on 24 young parents of trisomic infants, 21 individuals with recurrent unexplained abortions, and 42 control…”
Get more information

Transmission of a Fragile X full mutation from a premutation male to his two daughters by Bridge, P.J., Dimnik, L.S., Chernos, J.E., Wages, J., Bloch, W., McLeod, D.R.

Get full text