| 1 |
Butler MG. Prader-Willi syndrome: Current understanding of cause and diagnosis [J]. Am J Med Genet, 1990, 35(3): 319-332.
|
| 2 |
Cassidy SB, Schwartz S, Miller JL, et al. Prader-Willi syndrome [J]. Genet Med, 2012, 14(1): 10-26.
|
| 3 |
RESTARE , Muscogiuri G, Barrea L, et al. Obesity in Prader-Willi syndrome: physiopathological mechanisms, nutritional and pharmacological approaches [J]. J Endocrinol Invest, 2021, Apr 23.
|
| 4 |
李川, 谢波波, 沈亦平, 等. Prader-Willi综合征的临床实践指南 [J]. 中华医学遗传学杂志, 2020, 37(3): 318-323.
|
| 5 |
詹实娜, 何玺玉, 王春枝, 等. 新生儿Prader-Willi综合征13例临床表型分析[J]. 中国循证儿科杂志, 2012, 07(3): 200-204.
|
| 6 |
Hu Y, Xue X, Fu J. Case Report: Clinical Analysis of Seven Neonates With Prader-Willi Syndrome and Review of the Literature [J]. Front Pediatr, 2021, 9: 633532.
|
| 7 |
Aypar U, Brodersen PR, Lundquist PA, et al. Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region [J]. Am J Med Genet A, 2014, 164(10): 2514-2520.
|
| 8 |
Cao Y, AlHumaidi SS, Faqeih EA, et al. A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype [J]. Eur J Med Genet, 2017, 60(8): 416-420.
|
| 9 |
Napolitano L, Barone B, Morra S, et al. Hypogonadism in Patients with Prader Willi Syndrome: A Narrative Review [J]. Int J Mol Sci, 2021, 22(4): 1993.
|
| 10 |
Xin Z, Tachibana M, Guggiari M, et al. Role of Histone Methyltransferase G9a in CpG Methylation of the Prader-Willi Syndrome Imprinting Center [J]. J Biol Chem, 2003, 278(17): 14996-15000.
|
| 11 |
Hartin SN, Hossain WA, Francis D, et al. Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing [J]. Mol Genet Genomic Med, 2019, 7(4): e00575.
|
| 12 |
黄武炎, 李淑娜, 罗华玉, 等. 不同遗传学检测技术在Prader-Willi综合征诊断中的应用 [J]. 中华医学遗传学杂志, 2020, 37(8): 875-878.
|
| 13 |
Moelans CB, Atanesyan L, Savola SP, et al. Methylation-Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA) [J]. Methods Mol Biol, 2018, 1708(12):537-549.
|
| 14 |
Xie C, Tammi MT. CNV-seq, a new method to detect copy number variation using high-throughput sequencing [J]. BMC Bioinformatics, 2009, 10(1): 1-9.
|
| 15 |
郑逸翔, 萸东兰, 朱春江. Prader-Willi综合征治疗进展 [J]. 世界最新医学信息文摘, 2020, 20(27): 113-114.
|
| 16 |
Deal CL, Tony M, Hoybye C, et al. Growth Hormone Research Society Workshop Summary: Consensus Guidelines for Recombinant Human Growth Hormone Therapy in Prader-Willi Syndrome [J]. J Clin Endocrinol Metab, 2013, 98(6): E1072-1087.
|
| 17 |
Tauber M, Diene G, Molinas C, et al. Review of 64 cases of death in children with Prader-Willi syndrome (PWS) [J]. Am J Med Cenet A, 2008, 146A(7): 881-887.
|
| 18 |
陈逸斐, 何安东, 李雅兰. 合并OSAHS、重度PH的病态肥胖Prader-Willi综合征患儿腹腔镜减重手术麻醉管理1例 [J/CD]. 中华肥胖与代谢病电子杂志, 2020, 6(4): 276-280.
|