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24 results on '"du Sart, Desiree"'

2. GJB2 mutations and degree of hearing loss: a multicenter study

Author

Snoeckx, Rikkert L., Huygen, Patrick L.M., Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Francoise, Waligora, Jaroslaw, Mueller-Malesinska, Malgorzata, Pollak, Agneszka, Ploski, Rafal, Murgia, Alessandra, Orzan, Eva, Castorina, Pierangela, Ambrosetti, Umberto, Nowakowska-Szyrwinska, Ewa, Bal, Jerzy, Wiszniewski, Wojciech, Janecke, Andreas R., Nekahm-Heis, Doris, Seeman, Pavel, Bendova, Olga, Kenna, Margaret A., Frangulov, Anna, Rehm, Heidi L., Tekin, Mustafa, Incesulu, Armagan, Dahl, Hans-Henrik M., du Sart, Desiree, Jenkins, Lucy, Lucas, Deirdre, Bitner-Glindzicz, Maria, Avraham, Karen B., Brownstein, Zippora, del Castillo, Ignacio, Moreno, Felipe, Blin, Nikolaus, Pfister, Markus, Sziklai, Istvan, Toth, Timea, Kelley, Philip M., Cohn, Edward S., Van Maldergem, Lionel, Hilbert, Pascale, Roux, Anne-Francoise, Mondain, Michel, Hoefsloot, Lies H., Cremers, Cor W.R.J., Lopponen, Tuija, Lopponen, Heikki, Parving, Agnete, Gronskov, Karen, Schrijver, Iris, Roberson, Joseph, Gualandi, Francesca, Martini, Alessandro, Lina-Granade, Genevieve, Pallares-Ruiz, Nathalie, Correia, Ceu, Fialho, Graca, Cryns, Kim, Hilgert, Nele, Van de Heyning, Paul, Nishimura, Carla J., Smith, Richard J.H., and Van Camp, Guy

Subjects
Hearing disorders -- Case studies, Human genetics -- Research, Biological sciences
Published
2005

5. Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness

Author

Dahl, Hans-Henrik M., Saunders, Kerryn, Kelly, Therese M., Osborn, Amelia H., Wilcox, Stephen, Cone-Wesson, Barbara, Wunderlich, Julia L., Du Sart, Desiree, Kamarinos, Maria, Gardner, Robert J. McKinlay, Dennehy, Shirley, Williamson, Robert, Vallance, Neil, and Mutton, Patricia

Subjects
Children -- Health aspects, Deafness -- Genetic aspects, Genetic disorders -- Research, Hearing loss -- Causes of, Health
Abstract

Research into the link between genetic mutation and non-syndromic inherited deafness in Australian is presented. The paper demonstrates that mutations in connexin 26 are a frequent cause of deafness and estimates the carrier rate in the population.

Published
2001

7. FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts

Author

Kraan, Claudine M., primary, Bui, Quang M., additional, Field, Mike, additional, Archibald, Alison D., additional, Metcalfe, Sylvia A., additional, Christie, Louise M., additional, Bennetts, Bruce H., additional, Oertel, Ralph, additional, Smith, Melanie J., additional, du Sart, Desiree, additional, Bruno, Damien, additional, Wotton, Tiffany L., additional, Amor, David J., additional, Francis, David, additional, and Godler, David E., additional

Published
2018
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8. Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics

Author

Kalman, Lisa V., Lubin, Ira M., Barker, Shannon, du Sart, Desiree, Elles, Rob, Grody, Wayne W., Pazzagli, Mario, Richards, Sue, Schrijver, Iris, and Zehnbauer, Barbara

Subjects
Nucleotide sequencing -- Analysis, DNA sequencing -- Analysis, Genetic screening -- Usage -- Analysis, Health
Abstract

* Context.--Participation in proficiency testing (PT) or external quality assessment (EQA) programs allows the assessment and comparison of test performance among different clinical laboratories and technologies. In addition to the approximately 2300 tests for individual genetic disorders, recent advances in technology have enabled the development of clinical tests that quickly and economically analyze the entire human genome. New PT/EQA approaches are needed to ensure the continued quality of these complex tests. Objectives.--To review the availability and scope of PT/ EQA for molecular genetic testing for inherited conditions in Europe, Australasia, and the United States; to evaluate the successes and demonstrated value of available PT/EQA programs; and to examine the challenges to the provision of comprehensive PT/EQA posed by new laboratory practices and methodologies. Data Sources.--The available literature on this topic was reviewed and supplemented with personal experiences of several PT/EQA providers. Conclusions.--Proficiency testing/EQA schemes are available for common genetic disorders tested in many clinical laboratories but are not available for most genetic tests offered by only one or a few laboratories. Provision of broad, method-based PT schemes, such as DNA sequencing, would allow assessment of many tests for which formal PT is not currently available. Participation in PT/ EQA improves the quality of testing by identifying inaccuracies that laboratories can trace to errors in their testing processes. Areas of research and development to ensure that PT/EQA programs can meet the needs of new and evolving genetic tests and technologies are identified and discussed. (Arch Pathol Lab Med. 2013;137:983-988; doi:10.5858/arpa.2012-0311-RA), Recent advances in genetic testing technologies and an increased understanding of the role of DNA variations in health and disease have produced expansion of molecular diagnostics and led to an [...]

Published
2013
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10. Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis

Author

Aliaga, Solange M, primary, Slater, Howard R, primary, Francis, David, primary, Du Sart, Desiree, primary, Li, Xin, primary, Amor, David J, primary, Alliende, Angelica M, primary, Santa Maria, Lorena, primary, Faundes, Víctor, primary, Morales, Paulina, primary, Trigo, Cesar, primary, Salas, Isabel, primary, Curotto, Bianca, primary, and Godler, David E, primary

Published
2016
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11. FMR1allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts

Author

Kraan, Claudine M., Bui, Quang M., Field, Mike, Archibald, Alison D., Metcalfe, Sylvia A., Christie, Louise M., Bennetts, Bruce H., Oertel, Ralph, Smith, Melanie J., du Sart, Desiree, Bruno, Damien, Wotton, Tiffany L., Amor, David J., Francis, David, and Godler, David E.

Abstract

Developmental delay phenotypes have been associated with FMR1premutation (PM: 55–200 CGG repeats) and “gray zone” (GZ: 45–54 CGG repeats) alleles. However, these associations have not been confirmed by larger studies to be useful in pediatric diagnostic or screening settings.

Published
2018
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12. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Author

Thompson, Bryony A, Spurdle, Amanda B, Plazzer, John-Paul, Greenblatt, Marc S, Akagi, Kiwamu, Al-Mulla, Fahd, Bapat, Bharati, Bernstein, Inge, Capellá, Gabriel, den Dunnen, Johan T, du Sart, Desiree, Fabre, Aurelie, Farrell, Michael P, Farrington, Susan M, Frayling, Ian M, Frebourg, Thierry, Goldgar, David E, Heinen, Christopher D, Holinski-Feder, Elke, Kohonen-Corish, Maija, Robinson, Kristina Lagerstedt, Leung, Suet Yi, Martins, Alexandra, Moller, Pal, Morak, Monika, Nystrom, Minna, Peltomaki, Paivi, Pineda, Marta, Qi, Ming, Ramesar, Rajkumar, Rasmussen, Lene Juel, Royer-Pokora, Brigitte, Scott, Rodney J, Sijmons, Rolf, Tavtigian, Sean V, Tops, Carli M, Weber, Thomas, Wijnen, Juul, Woods, Michael O, Macrae, Finlay, Genuardi, Maurizio, Castillejo, Adela, Sexton, Adrienne, Chan, Anthony K W, Viel, Alessandra, Blanco, Amie, French, Amy, Laner, Andreas, Wagner, Anja, van den Ouweland, Ans, Thompson, Bryony A, Spurdle, Amanda B, Plazzer, John-Paul, Greenblatt, Marc S, Akagi, Kiwamu, Al-Mulla, Fahd, Bapat, Bharati, Bernstein, Inge, Capellá, Gabriel, den Dunnen, Johan T, du Sart, Desiree, Fabre, Aurelie, Farrell, Michael P, Farrington, Susan M, Frayling, Ian M, Frebourg, Thierry, Goldgar, David E, Heinen, Christopher D, Holinski-Feder, Elke, Kohonen-Corish, Maija, Robinson, Kristina Lagerstedt, Leung, Suet Yi, Martins, Alexandra, Moller, Pal, Morak, Monika, Nystrom, Minna, Peltomaki, Paivi, Pineda, Marta, Qi, Ming, Ramesar, Rajkumar, Rasmussen, Lene Juel, Royer-Pokora, Brigitte, Scott, Rodney J, Sijmons, Rolf, Tavtigian, Sean V, Tops, Carli M, Weber, Thomas, Wijnen, Juul, Woods, Michael O, Macrae, Finlay, Genuardi, Maurizio, Castillejo, Adela, Sexton, Adrienne, Chan, Anthony K W, Viel, Alessandra, Blanco, Amie, French, Amy, Laner, Andreas, Wagner, Anja, and van den Ouweland, Ans

Abstract

The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases.

Published
2014

17. Accurate and Accessible Genetic Testing for Long QT Syndrome

Author

Eastaugh, Lucas, primary, Vohra, Jitu, additional, Macciocca, Ivan, additional, Phelan, Dean, additional, Connell, Vanessa, additional, Winship, Ingrid, additional, Bankier, Agnes, additional, James, Paul, additional, du Sart, Desiree, additional, and Davis, Andrew, additional

Published
2008
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18. Hyperplastic Polyposis Syndrome: Phenotypic Presentations and the Role of MBD4 and MYH

Author

Chow, Elizabeth, primary, Lipton, Lara, additional, Lynch, Elly, additional, D’Souza, Rebecca, additional, Aragona, Clelia, additional, Hodgkin, Lindy, additional, Brown, Gregor, additional, Winship, Ingrid, additional, Barker, Melissa, additional, Buchanan, Daniel, additional, Cowie, Shannon, additional, Nasioulas, Steve, additional, du Sart, Desiree, additional, Young, Joanne, additional, Leggett, Barbara, additional, Jass, Jeremy, additional, and Macrae, Finlay, additional

Published
2006
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22. A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation

Author

Gochee, Peter A., Powell, Lawrie W., Cullen, Digby J., Du Sart, Desiree, Rossi, Enrico, and Olynyk, John K.

Abstract

Two major mutations are defined within the hemochromatosis gene, HFE. Although the effects of the C282Y mutation have been well characterized, the effects of the H63D mutation remain unclear. We accessed a well-defined population in Busselton, Australia, and determined the frequency of the H63D mutation and its influence on total body iron stores.

Published
2002
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23. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

Author

Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, and Genuardi M

Subjects
Disease Management, Humans, Classification methods, DNA Mismatch Repair genetics, Databases, Genetic, Gastrointestinal Neoplasms genetics, Genetic Variation genetics
Abstract

The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases.

Published
2014
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24. Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia.

Author

James PA, Shaw J, du Sart D, Craig E, Bateman JF, and Savarirayan R

Subjects
Adult, Diagnosis, Differential, Female, Fetal Diseases embryology, Humans, Male, Osteochondrodysplasias congenital, Pregnancy, Pregnancy, High-Risk, Dwarfism genetics, Fetal Diseases genetics, Genetic Counseling, Osteochondrodysplasias genetics, Prenatal Diagnosis
Published
2003
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