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排序方式: 共有119条查询结果,搜索用时 31 毫秒
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Johanna L. Schmidt MPH MGC CGC Amy Pizzino MS CGC Jessica Nicholl MS CGC Allison Foley MMSc CGC Yue Wang PhD FACMG Jill A. Rosenfeld MS CGC Lindsey Mighion MS CGC Lora Bean PhD Cristina da Silva MS Megan T. Cho MS CGC Rebecca Truty PhD John Garcia PhD Virginia Speare PhD Kirsten Blanco BS Zoe Powis MS CGC Grace M. Hobson PhD Susan Kirwin BS Bryan Krock PhD FACMG Hane Lee PhD Joshua L. Deignan PhD Maggie A. Westemeyer MS CGC Ryan L. Subaran PhD Isabelle Thiffault PhD FABMGG Ellen A. Tsai PhD Terry Fang PhD Guy Helman BS Adeline Vanderver MD 《American journal of medical genetics. Part A》2020,182(8):1906-1912
Leukodystrophies are a heterogeneous group of heritable disorders characterized by abnormal brain white matter signal on magnetic resonance imaging (MRI) and primary involvement of the cellular components of myelin. Previous estimates suggest the incidence of leukodystrophies as a whole to be 1 in 7,000 individuals, however the frequency of specific diagnoses relative to others has not been described. Next generation sequencing approaches offer the opportunity to redefine our understanding of the relative frequency of different leukodystrophies. We assessed the relative frequency of all 30 leukodystrophies (associated with 55 genes) in more than 49,000 exomes. We identified a relatively high frequency of disorders previously thought of as very rare, including Aicardi Goutières Syndrome, TUBB4A‐related leukodystrophy, Peroxisomal biogenesis disorders, POLR3‐related Leukodystrophy, Vanishing White Matter, and Pelizaeus‐Merzbacher Disease. Despite the relative frequency of these conditions, carrier‐screening laboratories regularly test only 20 of the 55 leukodystrophy‐related genes, and do not test at all, or test only one or a few, genes for some of the higher frequency disorders. Relative frequency of leukodystrophies previously considered very rare suggests these disorders may benefit from expanded carrier screening. 相似文献
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Metachronous T‐Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome 下载免费PDF全文
Thomas B. Alexander MD MPH Rose B. McGee MS CGC Erica C. Kaye MD Mary Beth McCarville MD John K. Choi MD PhD Cary P. Cavender MD Kim E. Nichols MD John T. Sandlund MD 《Pediatric blood & cancer》2016,63(8):1454-1456
Constitutional mismatch repair deficiency (CMMRD) is a cancer predisposition syndrome associated with a high risk of developing early‐onset malignancies of the blood, brain, and intestinal tract. We present the case of a patient with T‐lymphoblastic lymphoma at the age of 3 years, followed by Burkitt lymphoma 10 years later. This patient also exhibited numerous nonmalignant findings including café au lait spots, lipomas, bilateral renal nodules, a nonossifying fibroma, multiple colonic adenomas, and a rapidly enlarging pilomatrixoma. The spectrum of malignant and nonmalignant neoplasms in this patient highlights the remarkable diversity, and early onset, of lesions seen in children with CMMRD. 相似文献
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Maryann Kwa MD Susan Edwards RN Andrea Downey RN Elsa Reich MS CGC Robert Wallach MD John Curtin MD Franco Muggia MD 《Annals of surgical oncology》2014,21(5):1468-1473
Background
Ovarian cancer arising in women with BRCA mutations is known to have a more favorable outcome and to be more responsive to platinum-based regimens than in those without a hereditary background. We analyze our previously published intraperitoneal (IP) studies in relation to BRCA mutation status and update their outcomes.Methods
Among 62 patients with ovarian cancer enrolled in IP platinum doublet studies in clinical trials (with etoposide (n = 18), with floxuridine (n = 30), and with topotecan (n = 14)), a deleterious BRCA mutation was eventually identified in 10 patients. The outcomes in these BRCA mutation carriers are described and compared with survival of others in respective trials.Results
Ten patients that were confirmed to have BRCA mutations—all with high-grade and stages IIC to IV disease—survived a median of 10 years (range: 4–18+) after receiving IP cisplatin-based regimens. Two continue with no evidence of disease since their IP treatment, while four others remain alive with recurrences after 8, 9, 10, and 11 years, respectively.Conclusions
This experience suggests that IP cisplatin leads to favorable long term outcomes in advanced ovarian cancer in women with defective homologous recombination (i.e., with deleterious BRCA mutations). Whether such cisplatin dose-intensification from IP relative to (intravenous) IV drug administration leads to superior results in these mutation carriers requires further study. 相似文献5.
David B. Reuben MD Thomas M. Gill MD Alan Stevens PhD Jeff Williamson MD Elena Volpi MD PhD Maya Lichtenstein MD Lee A. Jennings MD MSHS Zaldy Tan MD Leslie Evertson DNP RN GNP-BC David Bass PhD Lisa Weitzman MSSA LISW-S ASW-G C-ASWCM Martie Carnie Nancy Wilson MA MSW Katy Araujo MPH Peter Charpentier MPH Can Meng MS MPH Erich J. Greene PhD James Dziura PhD Jodi Liu PhD MSPH MSE BSE Erin Unger Mia Yang MD Katherine Currie BSPH MAT Kristin M. Lenoir MPH Aval-NaʼRee S. Green MD Sitara Abraham MPH Ashley Vernon MPH Rafael Samper-Ternent MD PhD Mukaila Raji MD MSc Roxana M. Hirst MS Rebecca Galloway PT PhD Glen R. Finney MD Ilene Ladd MS Alanna Kulchak Rahm PhD MS CGC Pamela Borek MSN RN-C Peter Peduzzi PhD 《Journal of the American Geriatrics Society》2020,68(11):2492-2499
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Melissa A. Alderfer PhD Kristin Zelley MS LCGC Robert B. Lindell MD Ana Novokmet BA Phuong L. Mai MD MS Judy E. Garber MD MPH Deepika Nathan MS CGC Sarah Scollon MS CGC Nicolette M. Chun MS LCGC Andrea F. Patenaude PhD James M. Ford MD Sharon E. Plon MD PhD Joshua D. Schiffman MD Lisa R. Diller MD Sharon A. Savage MD David Malkin MD Carol A. Ford MD Kim E. Nichols MD 《Cancer》2015,121(2):286-293