Last Posted: Sep 18, 2020
- [Clinical screening and genetic diagnosis for Prader-Willi syndrome].
Dong Guo-Qing et al. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2020 Sep 22(9) 1001-1006
- [Clinical practice guidelines for Prader-Willi syndrome].
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 318-323
- Relationship between phenotype and genotype of 102 Chinese newborns with Prader-Willi syndrome.
Ge Meng-Meng et al. Molecular biology reports 2019 Oct 46(5) 4717-4724
- Clinical epigenetics: a primer for the practitioner.
Aygun Deniz et al. Developmental medicine and child neurology 2019 Nov
- Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients.
El-Bassyouni Hala T et al. Journal of pediatric genetics 2019 Dec 8(4) 179-186
- From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Lindstrand Anna, et al. Genome medicine 2019 11 0. (1) 68
- Prader-Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults.
Manzardo A M et al. Clinical genetics 2018 93(3) 622-631
- Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.
Butler Merlin G et al. Current pediatric reviews 2019 Jul
- When a Rare Mutation Causes a Rare Disease: Jacob�s Story
R Lewis, PLOS Blogs, June 20, 2019
- PRADER-WILLI SYNDROME: WHAT IS THE GENERAL PEDIATRICIAN SUPPOSED TO DO? - A REVIEW.
Passone Caroline Buff Gouveia et al. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 36(3) 345-352
- Association of Rare Copy Number Variants With Risk of Depression.
Kendall Kimberley Marie, et al. JAMA psychiatry 2019 4 0.
- A Review of the Genomic Analysis of Children Presenting with Developmental Delay/Intellectual Disability and Associated Dysmorphic Features.
Vickers Ramiah R et al. Cureus 2019 Jan 11(1) e3873
- Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China.
Liu Chang et al. Molecular cytogenetics 2019 127
- Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing.
Hartin Samantha N et al. Molecular genetics & genomic medicine 2019 Feb e575
- A multidisciplinary approach to the clinical management of Prader-Willi syndrome.
Duis Jessica et al. Molecular genetics & genomic medicine 2019 Jan
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.