Search

Your search keyword '"Amos, Jean"' showing total 46 results
Start Over Author "Amos, Jean"
46 results on '"Amos, Jean"'

1. Cystic Fibrosis

Author

Amos, Jean A., Leonard, Debra G. B., editor, Bagg, Adam, editor, Caliendo, Angela M., editor, Kaul, Karen L., editor, and Van Deerlin, Vivianna M., editor

Published
2007
Full Text
View/download PDF

2. Cystic Fibrosis

Author

Lewis, Eugene H., III, Lewis, Myra J., Amos, Jean A., Tsongalis, Gregory J., Coleman, William B., editor, and Tsongalis, Gregory J., editor

Published
2005
Full Text
View/download PDF

3. Identification of Cystic Fibrosis Mutations

Author

Dean, Michael, Gerrard, Bernard, Stewart, Claudia, Krueger, Leslie, Holsclaw, Douglas, Quittell, Lynne, Baranov, Vladislov, Kapronov, Nicolai, Leppert, Mark, Amos, Jean, White, Marga, Tsui, Lap-Chee, editor, Romeo, Giovanni, editor, Greger, Rainer, editor, and Gorini, Sergio, editor

Published
1991
Full Text
View/download PDF

5. Cystic Fibrosis

Author

Lewis, Eugene H., primary, Lewis, Myra J., additional, Amos, Jean A., additional, and Tsongalis, Gregory J., additional

Published
2006
Full Text
View/download PDF

8. Absence of Duplication of Chromosome 21 Genes in Familial and Sporadic Alzheimer's Disease

Author

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, and Gusella, James F.

Published
1987

10. Congenital bilateral absence of the vas deferens: a primarily genital form of cystic fibrosis

Author

Anguiano, Arturo, Oates, Robert D., Amos, Jean A., Dean, Michael, Gerrard, Bernard, Stewart, Claudia, Maher, Thomas A., White, Marga B., and Milunsky, Aubrey

Subjects
Vas deferens -- Abnormalities, Cystic fibrosis -- Genetic aspects
Abstract

Men with congenital bilateral absence of the vas deferens (CBAVD) who are otherwise healthy may have a form of the genetic disorder cystic fibrosis (CF) that only affects the genitals. Most males with CF have missing or incompletely formed vas deferens, or the secretory duct of the testicles, and do not produce living sperm. Genetic analysis of 25 men from 25 to 43 years old with CBAVD who were incapable of producing living sperm found that 16 (64%) had at least one mutation associated with CF. Three of the men with CF-associated mutations had two different mutations that may be associated with CF. One of these men had high levels of salts in his sweat, which is characteristic of CF patients. CBAVD may be caused by the production of abnormal secretions before birth that interfere with normal development of the vas deferens., Objective. -- Almost all males with cystic fibrosis (CF) have absent vasa deferentia. It has been suggested that otherwise healthy males with congenital bilateral absence of the vas deferens (CBAVD), previously considered a distinct genetic entity, have an increased frequency of CF gene mutations. This study examined the genetic commonality of these two disorders. Design. -- We typed six common CF gene mutations in 25 patients with CBAVD. Additional rare mutations were sought using single-stranded conformation polymorphisms and direct DNA sequencing. When rare mutations were found, they were sought in a large sample of both CF patients and obligate CF carriers to exclude them as polymorphisms. Setting. -- All the patients presented to a male infertility clinic of a teaching hospital. Subjects. -- Twenty-five unselected, unrelated azoospermic men with CBAVD, most of them of Northern European ancestry. Results. -- Sixteen (64%) of the 25 men with CBAVD had at least one detectable CF mutation, 16 times the expected frequency (P < .001). Moreover, we have thus far determined that three of these 16 men are compound heterozygotes, one of whom has a mutation not previously described. Analyses continue on patients who have yet to yield a detectable mutation. Conclusions. -- Some, if not all, otherwise healthy men with CBAVD reflect a newly recognized, primarily genital, phenotype of CF. Prior to sperm aspiration to remedy infertility, CF mutation analysis should be recommended for them and their partners, as well as for their relatives. (JAMA. 1992;267:1794-1797)

Published
1992

12. Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes

Author

Milunsky, Aubrey, Skare, James C., Milunsky, Jeffrey M., Maher, Thomas A., and Amos, Jean A.

Subjects
Birth defects -- Diagnosis, Myotonic dystrophy -- Genetic aspects, Health
Abstract

Myotonic muscular dystrophy is a chronic genetic disease characterized by progressive muscle wasting and poor muscle relaxation after contractions. Women who carry the gene for the disorder may have few or no symptoms, but have a 50 percent risk of having a child with the disease. Men and women with myotonic muscular dystrophy have an equal chance of transmitting the condition, but the offspring of women tend to have more severe disease. Women who are at risk for the disease or for transmitting it are usually identified through their family medical history. A new alternative is afforded by DNA testing for the gene; these tests are becoming more precise and are generally between 96 and 99 percent accurate. One medical team has reported successful prenatal diagnosis of the disease. This report describes the results for five families who underwent prenatal testing. Prenatal diagnosis allowed improved patient management during early and late pregnancies, and obstetricians were able to anticipate the high risk of complications in pregnant patients or fetuses with the disease. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

14. A frame-shift mutation in the cystic fibrosis gene

Author

White, Marga B., Amos, Jean, Hsu, Julie M.C., Gerrard, Bernard, Finn, Paula, and Dean, Michael

Subjects
Lung diseases, Mutation (Biology) -- Genetic aspects, Cystic fibrosis -- Causes of, Genetic disorders -- Research, Human chromosome abnormalities -- Genetic aspects, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Cystic fibrosis is a disease that affects 1 in 1,600 Caucasians. It is characterized by abnormally thick mucous secretions by glands in the lungs, which can lead to respiratory infection and death. In the disease state, there is defective regulation of chloride ion transport in the cells of the exocrine glands. The disease is inherited and the defect has been isolated to an area on chromosome 7. The gene coding for the defect has recently been cloned. This gene codes for a protein which is involved in the regulation of ion conduction across the membrane. Mutations of the gene are seen in patients with cystic fibrosis. A deletion of three nucleotides of deoxyribose nucleic acid (DNA) at a particular site of the gene has been found in 70 percent of the patients with cystic fibrosis. A common mutation has not been found in the other cases of cystic fibrosis. A defective cystic fibrosis gene has been characterized in a family in which the genes of the parents do not contain this common deletion. The mother's genes contain two extra nucleotides which are inserted into the cystic fibrosis gene. This gene then codes for a shortened protein which is nonfunctional. The identification of different mutations in the gene that causes cystic fibrosis is important to the understanding of protein function in the disease process, and the types of defects that may result. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1990

15. Linkage Heterogeneity in Tuberous Sclerosis

Author

Fleury, Paul, primary, Janssen, Bart, additional, Merkens, Corinne, additional, Sandkuyl, Lodewijk, additional, Lindhout, Dick, additional, Halley, Dicky, additional, Sampson, Julian, additional, Connor, Michael, additional, Smith, Moyra, additional, Haines, Jonathan, additional, Amos, Jean, additional, Kwiatkowski, David, additional, Short, Priscilla, additional, Northrup, Hope, additional, and Blanton, Susan, additional

Full Text
View/download PDF

16. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

Author

Baldwin, Clinton T., Hoth, Christopher F., Amos, Jean A., da-Silva, Elias O., and Milunsky, Aubrey

Subjects
Klein-Waardenburg syndrome -- Genetic aspects, Mutation (Biology) -- Physiological aspects, Genetic disorders -- Causes of, Environmental issues, Science and technology, Zoology and wildlife conservation
Published
1992

18. Genetically Characterized Positive Control Cell Lines Derived from Residual Clinical Blood Samples

Author

Bernacki, Susan H, primary, Beck, Jeanne C, primary, Stankovic, Ana K, primary, Williams, Laurina O, primary, Amos, Jean, primary, Snow-Bailey, Karen, primary, Farkas, Daniel H, primary, Friez, Michael J, primary, Hantash, Feras M, primary, Matteson, Karla J, primary, Monaghan, Kristin G, primary, Muralidharan, Kasinathan, primary, Pratt, Victoria M, primary, Prior, Thomas W, primary, Richie, Kristy L, primary, Levin, Barbara C, primary, Rohlfs, Elizabeth M, primary, Schaefer, Frederick V, primary, Shrimpton, Antony E, primary, Spector, Elaine B, primary, Stolle, Catherine A, primary, Strom, Charles M, primary, Thibodeau, Stephen N, primary, Cole, Eugene C, primary, Goodman, Barbara K, primary, and Stenzel, Timothy T, primary

Published
2005
Full Text
View/download PDF

19. Developing a Sustainable Process to Provide Quality Control Materials for Genetic Testing

Author

Chen, Bin, primary, O'Connell, Catherine D., additional, Boone, D Joe, additional, Amos, Jean A., additional, Beck, Jeanne C., additional, Chan, Maria M., additional, Farkas, Daniel H., additional, Lebo, Roger V., additional, Richards, Carolyn Sue, additional, Roa, Benjamin B., additional, Silverman, Lawrence M., additional, Barton, David E., additional, Bejjani, Bassem A., additional, Belloni, Dorothy R., additional, Bernacki, Susan H., additional, Caggana, Michele, additional, Charache, Patricia, additional, Dequeker, Elisabeth, additional, Ferreira-Gonzalez, Andrea, additional, Friedman, Kenneth J., additional, Greene, Carol L., additional, Grody, Wayne W., additional, Highsmith, William Edward, additional, Hinkel, Cecelia S., additional, Kalman, Lisa V., additional, Lubin, Ira M., additional, Lyon, Elaine, additional, Payne, Deborah A., additional, Pratt, Victoria M., additional, Rohlfs, Elizabeth, additional, Rundell, Clark A., additional, Schneider, Erasmus, additional, Willey, Ann M., additional, Williams, Laurina O., additional, Willey, James C., additional, Winn-Deen, Emily S., additional, and Wolff, Daynna J., additional

Published
2005
Full Text
View/download PDF

23. Multicenter Characterization and Validation of the Intron-8 Poly(T) Tract (IVS8-T) Status in 25 Coriell Cell Repository Cystic Fibrosis Reference Cell Lines for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutation Assays

Author

Sebastian, Siby, primary, Spitzer, Silvia G, primary, Grosso, Leonard E, primary, Amos, Jean, primary, Schaefer, Frederick V, primary, Lyon, Elaine, primary, Wolff, Daynna J, primary, Hajianpour, Atieh, primary, Taylor, Annette K, primary, Millson, Alison, primary, and Stenzel, Timothy T, primary

Published
2004
Full Text
View/download PDF

24. Cystic Fibrosis

Author

Lewis, Myra J., primary, Lewis, Eugene H., additional, Amos, Jean A., additional, and Tsongalis, Gregory J., additional

Published
2003
Full Text
View/download PDF

25. Cystic Fibrosis.

Author

Bagg, Adam, Caliendo, Angela M., Kaul, Karen L., Van Deerlin, Vivianna M., Leonard, Debra G. B., and Amos, Jean A.

Abstract

Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in whites, with an estimated incidence of 1 in 2500 to 3300 live births. Approximately 30,000 children and adults in the United States are affected and approximately 850 individuals are newly diagnosed annually, the majority less than 1 year old. For a current, comprehensive review of clinical CF and molecular diagnostics for this disorder, see http://www.genetests.org/. [ABSTRACT FROM AUTHOR]

Published
2007
Full Text
View/download PDF

26. Standards and Guidelines for CFTR Mutation Testing

Author

Richards, Carolyn Sue, primary, Bradley, Linda A., additional, Amos, Jean, additional, Allitto, Bernice, additional, Grody, Wayne W., additional, Maddalena, Anne, additional, McGinnis, Matthew J., additional, Prior, Thomas W., additional, Popovich, Bradley W., additional, and Watson, Michael S., additional

Published
2002
Full Text
View/download PDF

28. Cystic Fibrosis.

Author

Coleman, William B., Lewis, Eugene H., Lewis, Myra J., Amos, Jean A., and Tsongalis, Gregory J.

Abstract

Cystic fibrosis (CF), a clinically heterogeneous disease, is the first genetic disease for which adult population screening has been initiated in the United States. Since the discovery of the CFTR gene in 1989, much has been learned about the pathophysiology and molecular genetics of this disorder. This review includes an overview of the genetics of CF, a discussion of pathophysiology, and clinical and anatomic pathology and concludes with a review of molecular diagnostics. [ABSTRACT FROM AUTHOR]

Published
2005
Full Text
View/download PDF

35. Diminished support for linkage between manic depressive illness and X–chromosome markers in three Israeli pedigrees

Author

Baron, Miron, primary, Freimer, Nelson F., additional, Risch, Neil, additional, Lerer, Bernard, additional, Alexander, Joyce R., additional, Straub, Richard E., additional, Asokan, Susha, additional, Das, Kamna, additional, Peterson, Amy, additional, Amos, Jean, additional, Endicott, Jean, additional, Ott, Jurg, additional, and Gilliam, T. Conrad, additional

Published
1993
Full Text
View/download PDF

40. Standards and Guidelines for CFTRMutation Testing

Author

Richards, Carolyn Sue, Bradley, Linda A., Amos, Jean, Allitto, Bernice, Grody, Wayne W., Maddalena, Anne, McGinnis, Matthew J., Prior, Thomas W., Popovich, Bradley W., and Watson, Michael S.

Abstract

One mission of the ACMG Laboratory Quality Assurance (QA) Committee is to develop standards and guidelines for clinical genetics laboratories, including cytogenetics, biochemical, and molecular genetics specialties. This document was developed under the auspices of the Molecular Subcommittee of the Laboratory QA Committee by the Cystic Fibrosis (CF) Working Group. It was placed on the “fast track” to address the preanalytical, analytical, and postanalytical quality assurance practices of laboratories currently providing testing for CF. Due to the anticipated impact of the ACMG recommendation statement endorsing carrier testing of reproductive couples, it was viewed that CF testing would increase in volume and that the number of laboratories offering CF testing would also likely increase. Therefore, this document was drafted with the premise of providing useful information gained by experienced laboratory directors who have provided such testing for many years. In many instances, “tips” are given. However, these guidelines are not to be interpreted as restrictive or the only approach but to provide a helpful guide. Certainly, appropriately trained and credentialed laboratory directors have flexibility to utilize various testing platforms and design testing strategies with considerable latitude. We felt that it was essential to include technique-specific guidelines of several current technologies commonly used in laboratories providing CF testing, since three of the four technologies discussed are available commercially and are widely utilized. We take the view that these technologies will change, and thus this document will change with future review.

Published
2002
Full Text
View/download PDF

41. Fatal Nigeria blast may cut Bonny supplies

Author

Moran, Jacinta, Oduniyi, Mike, Kurdi, Walid, Amos, Jean-Luc, and Ponnusamy, Sheela

Subjects
Shell USA Trading -- Accidents, Shell USA Trading -- Investigations, Petroleum industry -- Accidents, Petroleum industry -- Investigations, Company legal issue, Business, Petroleum, energy and mining industries
Abstract

Fatal blast in the Shell-operated crude pipeline in the Opobo Channel in Nigeria's southern Niger Delta has prompted fears that a force majeure might be declared on crude exports from the Bonny terminal. The primary investigations have revealed the fire on the line might have been caused by a dynamite attack carried out by unknown persons and hence a Joint Investigation Team comprising security and regulatory agencies and community people are constituted to look into the incident.

Published
2005

45. Mountain Men.

Author

Amos, Jean

Subjects
*LETTERS to the editor, *UNEMPLOYED people
Abstract

A letter to the editor is presented in response to the letter “Tokeville,” by Gideon Lewis-Kraus in the October 2009 issue.

Published
2009

46. Cystic fibrosis.

Author

Lewis, Myra J, Lewis, Eugene H, Amos, Jean A, and Tsongalis, Gregory J

Abstract

On a daily basis, pathologists examine the fundamental basis of human diseases using morphologic, immunologic, and molecular techniques. Cystic fibrosis (CF), as a clinically heterogeneous disease, exemplifies the complex challenges of genetic diseases for the pathologist who attempts to explain the mechanisms of disease and provide rationale for clinical management. This review includes an overview of CF and a discussion of pathophysiologic features and practical components of clinical and anatomic pathology, and concludes with a review of molecular diagnostics.

Published
2003

Catalog

Books, media, physical & digital resources
See catalog results