Search Results - "Amos, Jean A"

Molecular methods and platforms for infectious diseases testing a review of FDA-approved and cleared assays by Emmadi, Rajyasree, Boonyaratanakornkit, Jerry B, Selvarangan, Rangaraj, Shyamala, Venkatakrishna, Zimmer, Barbara L, Williams, Laurina, Bryant, Bonita, Schutzbank, Ted, Schoonmaker, Michele M, Amos Wilson, Jean A, Hall, Leslie, Pancholi, Preeti, Bernard, Kathryn

“…The superior sensitivity and specificity associated with the use of molecular assays has greatly improved the field of infectious disease diagnostics by…”
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An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome by Baldwin, Clinton T, Hoth, Christopher F, Amos, Jean A, da-Silva, Elias O, Milunsky, Aubrey

“…Here we report the identification and characterization of a gene defect causing Waardenburg's syndrome with hearing loss in a large Brazilian family. This…”
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Congenital Bilateral Absence of the Vas Deferens: A Primarily Genital Form of Cystic Fibrosis by Anguiano, Arturo, Oates, Robert D, Amos, Jean A, Dean, Michael, Gerrard, Bernard, Stewart, Claudia, Maher, Thomas A, White, Marga B, Milunsky, Aubrey

“…Objective.—Almost all males with cystic fibrosis (CF) have absent vasa deferentia. It has been suggested that otherwise healthy males with congenital bilateral…”
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Cystic fibrosis by Lewis, Myra J, Lewis, 3rd, Eugene H, Amos, Jean A, Tsongalis, Gregory J

“…On a daily basis, pathologists examine the fundamental basis of human diseases using morphologic, immunologic, and molecular techniques. Cystic fibrosis (CF),…”
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Developing a Sustainable Process to Provide Quality Control Materials for Genetic Testing by Chen, Bin, O'Connell, Catherine D., Boone, D Joe, Amos, Jean A., Beck, Jeanne C., Chan, Maria M., Farkas, Daniel H., Lebo, Roger V., Richards, Carolyn Sue, Roa, Benjamin B., Silverman, Lawrence M., Barton, David E., Bejjani, Bassem A., Belloni, Dorothy R., Bernacki, Susan H., Caggana, Michele, Charache, Patricia, Dequeker, Elisabeth, Ferreira-Gonzalez, Andrea, Friedman, Kenneth J., Greene, Carol L., Grody, Wayne W., Highsmith, William Edward, Hinkel, Cecelia S., Kalman, Lisa V., Lubin, Ira M., Lyon, Elaine, Payne, Deborah A., Pratt, Victoria M., Rohlfs, Elizabeth, Rundell, Clark A., Schneider, Erasmus, Willey, Ann M., Williams, Laurina O., Willey, James C., Winn-Deen, Emily S., Wolff, Daynna J.

“…To provide a summary of the outcomes of two working conferences organized by the Centers for Disease Control and Prevention (CDC), to develop recommendations…”
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A universal array-based multiplexed test for cystic fibrosis carrier screening by Amos, Jean A, Bridge-Cook, Philippa, Ponek, Victor, Jarvis, Michael R

“…Cystic fibrosis is a multisystem autosomal recessive disorder with high carrier frequencies in caucasians and significant, but lower, carrier frequencies in…”
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Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens by Colin, A A, Sawyer, S M, Mickle, J E, Oates, R D, Milunsky, A, Amos, J A

“…Congenital bilateral absence of the vas deferens (CBAVD) was once thought to be a distinct clinical entity, but genetic similarities in men with cystic…”
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Molecular Methods and Platforms for Infectious Diseases Testing by Emmadi, Rajyasree, Boonyaratanakornkit, Jerry B, Selvarangan, Rangaraj, Shyamala, Venkatakrishna, Zimmer, Barbara L, Williams, Laurina, Bryant, Bonita, Schutzbank, Ted, Schoonmaker, Michele M, Amos Wilson, Jean A, Hall, Leslie, Pancholi, Preeti, Bernard, Kathryn

“…The superior sensitivity and specificity associated with the use of molecular assays has greatly improved the field of infectious disease diagnostics by…”
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Absence of Duplication of Chromosome 21 Genes in Familial and Sporadic Alzheimer's Disease by St George-Hyslop, Peter H., Tanzi, Rudolph E., Polinsky, Ronald J., Neve, Rachael L., Pollen, Daniel, Drachman, David, Growdon, John, Cupples, L. Adrienne, Nee, Linda, Myers, Richard H., O'Sullivan, Dianne, Watkins, Paul C., Amos, Jean A., Deutsch, Curtis K., Bodfish, James W., Kinsbourne, Marcel, Feldman, Robert G., Bruni, Amalia, Amaducci, Luigi, Foncin, Jean-Francois, Gusella, James F.

“…The possibility that Alzheimer's disease (AD) is caused by overexpression or duplication of one or more genes on chromosome 21 has been raised by the…”
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The Genetic Basis of Congenital Bilateral Absence of the Vas Deferens and Cystic Fibrosis by OATES, ROBERT D., AMOS, JEAN A.

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Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity by HAINES, J. L, SHORT, M. P, KWIATKOWSKI, D. J, JEWELL, A, ANDERMANN, E, BEJJANI, B, CHING-HWA YANG, GUSELLA, J. F, AMOS, J. A

“…Tuberous sclerosis (TSC) is an autosomal dominant disorder with both neurological and cutaneous manifestations often resulting in significant disability…”
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Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes by Milunsky, A, Skare, J C, Milunsky, J M, Maher, T A, Amos, J A

“…Since the localization of the myotonic muscular dystrophy gene, closer deoxyribonucleic acid markers have been discovered. These now facilitate both…”
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Three additional DNA polymorphisms in the met gene and D7S8 locus: use in prenatal diagnosis of cystic fibrosis by Dean, M, O'Connell, P, Leppert, M, Park, M, Amos, J A, Phillips, D G, White, R, Vande Woude, G F

“…We have used cloned DNA sequences from the 5' end of the met locus and the D7S8 locus to locate new restriction fragment length polymorphisms. TaqI and MspI…”
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Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8 by DEAN, M, AMOS, J. A, WEIR, B. S, FINN, P. B, COLLINS, F. S, IANNUZZI, M. C, LYNCH, J, ROMEO, G, DEVOTO, M, WARD, K, HALLEY, D, OOSTRA, B, FERRARI, M, RUSSO, S

“…Three polymorphic DNA markers surrounding the D7S8 locus were tested for their usefulness in the diagnosis of cystic fibrosis (CF) by linkage analysis. The…”
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46,XY/47,XYY male with the fragile X syndrome: cytogenetic and molecular studies by Milunsky, A, Huang, X, Amos, J A, Herskowitz, J, Farrer, L A, Wyandt, H E

“…We report the first case of a 46,XY/47,XYY mosaic male with fragile X [Fra(X)] expression in both cell lines. Cytogenetic analysis, DNA linkage analysis, and…”
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