排序方式: 共有34条查询结果,搜索用时 15 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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Robert Tanner Hagelstrom PhD MBA FACMG James Ford MD Gwendolyn M. Reiser MS LCG Marilu Nelson CGCM Diane L. Pickering MS Pamela A. Althof MS CGCM Peter F. Coccia MD 《Pediatric blood & cancer》2016,63(3):544-546
Male breast cancer (MBC) is unusual, especially in young adults. Most cases of MBC as a secondary malignancy relate to the previous treatment with ionizing radiation. MBC can be associated with mutations in hereditary cancer predisposition syndrome genes (i.e., BRCA2); however, no such association has been reported in patients with Cowden syndrome (involving the phosphatase and tensin homolog [PTEN] gene). We describe a patient with Cowden syndrome who was initially diagnosed with B‐cell lymphoblastic lymphoma at the age of 7 years, then MBC at the age of 31 years, and never received radiation therapy. 相似文献
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Victor R. Klein MD MBA FACOG FACMG CPHRM Vivian B. Miller BA DFASHRM CPHRM CPHQ LHRM 《Journal of healthcare risk management》2014,34(2):14-19
Scores of ASHRM members have collaborated to produce the Pearls Series, a set of pocket guides on topics of interest for not only risk managers but also administrators, clinicians, and board members. The succinct format facilitates the dissemination of pertinent information to a wide audience. Risk managers should be knowledgeable of the Pearls topics, understand how to develop appropriate metrics, and manage the monitoring and performance improvement aspects that are critical to ensuring successful knowledge transfer. 相似文献
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Newborn screening is an old technique for early detection of problems and health promotion. In recent times, genetic breakthroughs have created the possibility of testing for many more newborn conditions. Some states are mandating as many as 20 to 30 tests. This article will review newborn screening, the state of the art, and some of the ethical questions that our technology is raising. Copyright 2002, Elsevier Science (USA). All rights reserved. 相似文献