Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Jadd M. Stevens"'
1
Frequency, variations, and prognostic implications of chromosome 14q32 deletions in chronic lymphocytic leukemia
Autor: Bhavana J. Dave, Pamela A. Althof, Rachel A. Harris, Diane L. Pickering, Jadd M. Stevens, Jennifer N. Sanmann, Lynette M. Smith
Publikováno v: Leukemia research. 110
The clinical implications of deletions within chromosome 14q32 in CLL pathogenesis remain unclear. We examined the frequency of 14q32 deletions among CLL cases by karyotype and FISH, categorized the variation using genomic microarray, and assessed th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bda52b5e23bb5dc2c15222cff4ab6fc
https://pubmed.ncbi.nlm.nih.gov/34293710
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2
Genetic drivers of oncogenic pathways in molecular subgroups of peripheral T-cell lymphoma
Autor: Tayla Heavican, Javeed Iqbal, Andreas Rosenwald, Kai Fu, Julie M. Vose, Laurence de Leval, Sylvia Hartmann, Bhavana J. Dave, Choon Kiat Ong, Yuping Li, Koichi Ohshima, Corinne Haioun, Masao Seto, Ryan A. Wilcox, Edoardo Missiaglia, Timothy W. McKeithan, Waseem Gul Lone, Giorgio Inghirami, Maria Antonella Laginestra, Alyssa Bouska, Philippe Gaulard, Randy D. Gascoyne, Elaine S. Jaffe, Jadd M. Stevens, Jiayu Yu, Bin Tean Teh, Francesco d'Amore, Francesco Bertoni, German Ott, François Lemonnier, Wing C. Chan, Soon Thye Lim, Weiwei Zhang, Cynthia M. Lachel, Elias Campo, Qiang Gong, Rita M. Braziel, Noriaki Yoshida, Timothy Greiner, Maarja-Liisa Nairismagi, Martin Bjerregård Pedersen, Louis M. Staudt, Stefano Pileri, Lisa M. Rimsza, Dennis D. Weisenburger, Chao Wang, Catalina Amador
Publikováno v: Heavican, T B, Bouska, A, Yu, J, Lone, W G, Amador, C, Gong, Q, Zhang, W, Li, Y, Dave, B J, Nairismägi, M-L, Greiner, T C, Vose, J, Weisenburger, D D, Lachel, C, Wang, C, Fu, K, Stevens, J, Lim, S T, Ong, C K, Gascoyne, R D, Missiaglia, E, Lemonnier, F, Haioun, C, Hartmann, S, Pedersen, M B, Laginestra, MA, Wilcox, R, The, BT, Yoshida, N, Ohshima, K, Seto, M, Rosenwald, A, Ott, G, Campo, E, Rimsza, L M, Jaffe, E S, Braziel, R M, d'Amore, F A, Inghirami, G, Bertoni, F, de Leval, L, Gaulard, P, Staudt, L M, McKeithan, T W, Pileri, S A, Chan, W C & Iqbal, J 2019, ' Genetic drivers of oncogenic pathways in molecular subgroups of peripheral T-cell lymphoma ', Blood, vol. 133, no. 15, pp. 1664-1676 . https://doi.org/10.1182/blood-2018-09-872549
Peripheral T-cell lymphoma (PTCL) is a group of complex clinicopathological entities, often associated with an aggressive clinical course. Angioimmunoblastic T-cell lymphoma (AITL) and PTCL-not otherwise specified (PTCL-NOS) are the 2 most frequent c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b1816540e6e9dd40de5b60405b672d6
https://pure.au.dk/portal/da/publications/genetic-drivers-of-oncogenic-pathways-in-molecular-subgroups-of-peripheral-tcell-lymphoma(c36deca9-bc03-44ba-87a4-eeb61498c32d).html
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3
Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability
Autor: Susan Zeesman, Małgorzata J.M. Nowaczyk, Susanne Kjaergaard, Hanne Hove, Jadd M. Stevens, Maria Kirchhoff
Publikováno v: American Journal of Medical Genetics Part A. :1832-1836
Array comparative genomic hybridization has led to the identification of new syndromes by identifying genomic imbalances not detectable by standard karyotyping methods and by allowing correlations with physical findings. Deletions in the 17p13.1 regi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64f4d34d6f476b2eec75324471f563cc
https://doi.org/10.1002/ajmg.a.35508
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4
Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations
Autor: Jadd M. Stevens, Warren G. Sanger, Diane L. Pickering, Ann Haskins Olney, Denae M. Golden, James D. Eudy, Bhavana J. Dave
Publikováno v: Genetics in Medicine. 10:262-266
Purpose: Cytogenetic investigations are useful for etiologic determinations of mental retardation, developmental delay, multiple congenital anomalies, and pregnancy complications; however, the causes remain elusive in a majority of cases despite high
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fca08d30af5f76bf1c37fe9109ca7af2
https://doi.org/10.1097/gim.0b013e31816b64ad
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5
Assessing the utility of confirmatory studies following identification of large-scale genomic imbalances by microarray
Autor: Warren G. Sanger, Lois J. Starr, Bhavana J. Dave, Jadd M. Stevens, Diane L. Pickering, Thomas E. Hempel, Jennifer N. Sanmann, Denae M. Golden, Pamela A. Althof, Michele L. Wiggins
Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 17(11)
The identification of clinically relevant genomic dosage anomalies assists in accurate diagnosis, prognosis, and medical management of affected individuals. Technological advancements within the field, such as the advent of microarray, have markedly
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::388d0e1833780617ae6a3e0241e69766
https://pubmed.ncbi.nlm.nih.gov/25590977
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6
Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: review of distal 7q deletions
Autor: Jadd M. Stevens, Ann Haskins Olney, Warren G. Sanger, Eric T. Rush
Publikováno v: American journal of medical genetics. Part A. (7)
The use of aCGH has improved our ability to find subtle cytogenetic abnormalities as well as to find more precise information in patients with previously known abnormalities. In addition, it has allowed more specific genotype-phenotype correlation. I
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8946090f5d17d78a5a511eb103c6e98
https://pubmed.ncbi.nlm.nih.gov/23696251
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7
Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome
Autor: Diane L. Pickering, Jennifer N. Sanmann, G. Bradley Schaefer, Ann Haskins Olney, Lois J. Starr, Danielle L. Bishay, Jadd M. Stevens, Warren G. Sanger, Stephen G. Kahler, Carla A. Bell
Publikováno v: American journal of medical genetics. Part A. (6)
Males with duplication of the Xq28 region, including methyl CpG-binding protein 2 (MECP2), exhibit a characteristic phenotype, including developmental delay, intellectual disability, limited or absent speech, limited or absent ambulation, and recurre
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fce631b28e80f9e833c532a63a97ab69
https://pubmed.ncbi.nlm.nih.gov/22581587
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