全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
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作者:Jill S. Goldman , Edward D. Huey , Deborah Z. Thorne
来源:[J].Journal of Genetic Counseling(IF 1.454), 2017, Vol.26 (3), pp.435-441Springer
摘要:Hereditary neurodegenerative diseases can present with a psychiatric prodrome that overlaps with psychiatric symptoms that are not primary to these diseases. When individuals present for predictive testing while experiencing such symptoms, clinicians including genetic counselors,...
作者:Motoko Watanabe , Mari Matsuo , Masaki Ogawa ...
来源:[J].Journal of Genetic Counseling(IF 1.454), 2017, Vol.26 (3), pp.628-639Springer
摘要:The recent advent of noninvasive prenatal testing (NIPT) has had a significant impact in the field of prenatal testing. Although reports on pregnant women who used NIPT have accumulated, little is known about the experiences of their male partners. In this study, we assessed...
作者:K. Haude , P. McCarthy Veach , B. LeRoy ...
来源:[J].Journal of Genetic Counseling(IF 1.454), 2017, Vol.26 (3), pp.640-655Springer
摘要:Fanconi anemia (FA) is characterized by congenital malformations, progressive bone marrow failure, and predisposition to malignancy. Hematopoietic stem cell transplantation is used to treat FA, and best results are attained with sibling donors who are human leukocyte antigen...
作者:Julie Phipps , Heather Skirton
来源:[J].Journal of Genetic Counseling(IF 1.454), 2017, Vol.26 (5), pp.1130-1142Springer
摘要:Muenke syndrome constitutes the most common syndromic form of craniosynostosis, occurring in 1 in 30,000 live births. The phenotype is variable, ranging from no clinical findings to complex presentation. Facilitating reproductive decision making for couples at genetic risk of hav...
作者:Birgitte Rode Diness , Gritt Overbeck , Tina Duelund Hjortshøj ...
来源:[J].Journal of Genetic Counseling(IF 1.454), 2017, Vol.26 (5), pp.1080-1089Springer
摘要:Outcome measurement in clinical genetics is challenging. Robust outcome measures are needed to provide evidence to support service development within genetic counseling. The Genetic Counselling Outcome Scale (GCOS-24), a Patient Reported Outcome Measure (PROM), was developed...
作者:A. van Erkelens , L. Derks , A. S. Sie ...
来源:[J].Journal of Genetic Counseling(IF 1.454), 2017, Vol.26 (4), pp.785-791Springer
摘要:BRCA1/2-mutation carriers are at high risk of breast cancer (BC) and ovarian cancer. Physical inactivity, overweight (body mass index ≥25, BMI), smoking, and alcohol consumption are jointly responsible for about 1 in 4 postmenopausal BC cases in the general population. Limit...
作者:Amy Turriff , Ellen Macnamara , Howard P. Levy ...
来源:[J].Journal of Genetic Counseling(IF 1.454), 2017, Vol.26 (4), pp.728-737Springer
摘要:Klinefelter syndrome (XXY) is a common yet significantly underdiagnosed condition with considerable medical, psychological and social implications. Many health care providers lack familiarity with XXY, resulting in medical management challenges and a limited understanding of the ...
作者:Krista Redlinger-Grosse , Patricia McCarthy Veach , Bonnie S. LeRoy ...
来源:[J].Journal of Genetic Counseling(IF 1.454), 2017, Vol.26 (6), pp.1372-1387Springer
摘要:As the genetic counseling field evolves, a comprehensive model of practice is critical. The Reciprocal-Engagement Model (REM) consists of 5 tenets and 17 goals. Lacking in the REM, however, are well-articulated counselor strategies and behaviors. The purpose of the present s...

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