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排序方式: 共有419条查询结果,搜索用时 15 毫秒
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Kakourou G Dhanjal S Mamas T Gotts S Doshi A Fordham K Serhal P Ranieri DM Delhanty JD Harper JC SenGupta SB 《Neuromuscular disorders : NMD》2008,18(2):131-136
Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder caused by expansion of a trinucleotide repeat in a non-coding region of DMPK. Prenatal diagnosis (PND) is available; however, the decision to terminate affected pregnancies is difficult as the extent of disability is hard to predict from the size of the expansion. In preimplantation genetic diagnosis (PGD) genetic analysis is carried out before the establishment of pregnancy. This paper reviews the largest number of cycles of PGD for DM1 in the UK indicating that PGD is a practical option for affected couples. 相似文献
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Tang Shih-Tsang Tjia Victoria Noga Thalia Febri Jeshika Lien Chung-Yueh Chu Woei-Chyn Chen Chin-Yu Hsiao Chia-Hung 《Journal of digital imaging》2023,36(3):794-803
Journal of Digital Imaging - This paper proposes a web-based workflow scheme for the organization of medical images using FHIR and DICOM servers equipped with standard RESTful APIs. In our... 相似文献
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Jessica Mundy Christopher Hübel Brett N. Adey Helena L. Davies Molly R. Davies Jonathan R. I. Coleman Matthew Hotopf Gursharan Kalsi Sang Hyuck Lee Andrew M. McIntosh Henry C. Rogers Thalia C. Eley Robin M. Murray Evangelos Vassos Gerome Breen 《American journal of medical genetics. Part B, Neuropsychiatric genetics》2023,192(7-8):147-160
The Mood Disorder Questionnaire (MDQ) is a common screening tool for bipolar disorder that assesses manic symptoms. Its utility for genetic studies of mania or bipolar traits has not been fully examined. We psychometrically compared the MDQ to self-reported bipolar disorder in participants from the United Kingdom National Institute of Health and Care Research Mental Health BioResource. We conducted genome-wide association studies of manic symptom quantitative traits and symptom subgroups, derived from the MDQ items (N = 11,568–19,859). We calculated genetic correlations with bipolar disorder and other psychiatric and behavioral traits. The MDQ screener showed low positive predictive value (0.29) for self-reported bipolar disorder. Neither concurrent nor lifetime manic symptoms were genetically correlated with bipolar disorder. Lifetime manic symptoms had a highest genetic correlation (rg = 1.0) with posttraumatic stress disorder although this was not confirmed by within-cohort phenotypic correlations (rp = 0.41). Other significant genetic correlations included attention deficit hyperactivity disorder (rg = 0.69), insomnia (rg = 0.55), and major depressive disorder (rg = 0.42). Our study adds to existing literature questioning the MDQ's validity and suggests it may capture symptoms of general distress or psychopathology, rather than hypomania/mania specifically, in at-risk populations. 相似文献
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Helena L. Davies MSc Christopher Hübel MD PhD Moritz Herle PhD Saakshi Kakar MSc Jessica Mundy MSc Alicia J. Peel MSc Abigail R. ter Kuile MSc Johan Zvrskovec MSc Dina Monssen MSc Kai Xiang Lim MSc Molly R. Davies PhD Alish B. Palmos PhD Yuhao Lin BSc Gursharan Kalsi PhD Henry C. Rogers BSc Shannon Bristow MSc Kiran Glen MSc Chelsea Mika Malouf MSc Emily J. Kelly MSc Kirstin L. Purves PhD Katherine S. Young PhD Matthew Hotopf PhD FRCPsych FMedSci Cherie Armour PhD Andrew M. McIntosh PhD FRCPsych Thalia C. Eley PhD Janet Treasure PhD FRCP FRCPsych Gerome Breen PhD 《The International journal of eating disorders》2023,56(1):91-107