特刊：普拉德-威利综合征的遗传学
Special Issue: Genetics of Prader-Willi Syndrome.
机构信息
Royal Children's Hospital, Murdoch Children's Research Institute, Parkville 3052, Australia.
Department of Paediatrics, University of Melbourne, Parkville 3052, Australia.
出版信息
Genes (Basel). 2021 Sep 16;12(9):1429. doi: 10.3390/genes12091429.
Abstract
This Special Issue includes 15 peer-reviewed articles for publication by experts in Prader-Willi syndrome (PWS) and their reflective area of interest impacting this rare disorder [...].
摘要
本特刊收录了 15 篇经过同行评审的文章，由 Prader-Willi 综合征 (PWS) 领域的专家及其相关研究领域的专家撰写，内容涉及影响这种罕见疾病的各个方面。
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Special Issue: Genetics of Prader-Willi Syndrome.
Genes (Basel). 2021 Sep 16;12(9):1429. doi: 10.3390/genes12091429.
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Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study.
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Pharmacogenetic Testing of Cytochrome P450 Drug Metabolizing Enzymes in a Case Series of Patients with Prader-Willi Syndrome.
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Prader-Willi Syndrome and Hypogonadism: A Review Article.
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Prader-Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults.
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The use of medical care and the prevalence of serious illness in an adult Prader-Willi syndrome cohort.
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引用本文的文献
1
The Italian registry for patients with Prader-Willi syndrome.
Orphanet J Rare Dis. 2023 Feb 15;18(1):28. doi: 10.1186/s13023-023-02633-5.
2
Proteins and proteases of Prader-Willi syndrome: a comprehensive review and perspectives.
Biosci Rep. 2022 Jun 30;42(6). doi: 10.1042/BSR20220610.
本文引用的文献
1
Pharmacogenetic Testing of Cytochrome P450 Drug Metabolizing Enzymes in a Case Series of Patients with Prader-Willi Syndrome.
Genes (Basel). 2021 Jan 24;12(2):152. doi: 10.3390/genes12020152.
2
Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome.
Genes (Basel). 2020 Oct 23;11(11):1250. doi: 10.3390/genes11111250.
3
A 24-Week Physical Activity Intervention Increases Bone Mineral Content without Changes in Bone Markers in Youth with PWS.
Genes (Basel). 2020 Aug 24;11(9):984. doi: 10.3390/genes11090984.
4
The Gut Microbiota Profile in Children with Prader-Willi Syndrome.
Genes (Basel). 2020 Aug 7;11(8):904. doi: 10.3390/genes11080904.
5
Growth Trajectories in Genetic Subtypes of Prader-Willi Syndrome.
Genes (Basel). 2020 Jul 2;11(7):736. doi: 10.3390/genes11070736.
6
The Potential Role of Activating the ATP-Sensitive Potassium Channel in the Treatment of Hyperphagic Obesity.
Genes (Basel). 2020 Apr 21;11(4):450. doi: 10.3390/genes11040450.
7
Clinical Observations and Treatment Approaches for Scoliosis in Prader-Willi Syndrome.
Genes (Basel). 2020 Feb 28;11(3):260. doi: 10.3390/genes11030260.
8
Food and Non-Food-Related Behavior across Settings in Children with Prader-Willi Syndrome.
Genes (Basel). 2020 Feb 17;11(2):204. doi: 10.3390/genes11020204.
9
Prader-Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion.
Genes (Basel). 2020 Jan 25;11(2):128. doi: 10.3390/genes11020128.
10
Age Distribution, Comorbidities and Risk Factors for Thrombosis in Prader-Willi Syndrome.
Genes (Basel). 2020 Jan 7;11(1):67. doi: 10.3390/genes11010067.
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