Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes.

By R. Nicholls, Jessica L. Knepper. Annual review of genomics and human genetics (Print), 2001

627 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health

View Paper: https://www.semanticscholar.org/paper/3b6e3a1f313d32c51858240dc7246c1421330415

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. Keith D. Robertson
2. Felix Krueger
3. Simon R. Andrews

In Molecular Biology

1. Keith D. Robertson
2. K. Warner
3. Felix Krueger
4. Simon R. Andrews

In Pediatrics, Perinatology and Child Health

1. Keith D. Robertson

Citations in the corpus

• Advancing the understanding of autism disease mechanisms through genetics (2016, neutral): “…2C ( MEF2C ) 168 ; abnormal imprinting and microdeletion of MEF2-regulated ubiquitin-protein ligase E3A ( UBE3A ) (which causes Angelman syndrome 169 ) or duplication (dup) 15q11-q13 syndrome (which also encompasses UBE3A ); and de novo mutations in TBR1 , whose product is required for…”
• DNA methylation and human disease (2005, background): “PWS arises from loss of paternally expressed genes in this region, although no single gene has been shown to cause PWS when its expression is los”
• Angelman syndrome: a review of the clinical and genetic aspects (2003, background): “10 Buiting et al 36 identified an imprinting centre within chromosome 15q11-13 which regulates chromatin structure, DNA methylation, and gene expression through cis acting elements.”
• Intracytoplasmic sperm injection may increase the risk of imprinting defects. (2002, background): “It is caused by loss of function of the maternal allele of the UBE3A gene (MIM 601623) on chromosome 15, resulting from a deletion, a point mutation, a uniparental paternal disomy, or an imprinting defect (for review, see Nicholls and Knepper 2001).”
• Preventing Mental, Emotional, and Behavioral Disorders Among Young People: Progress and Possibilities (2009, background): “Although the locus of the mutation is the same, its effects on the behavioral phenotype of the child differ depending on which parent is the origin of the mutation (Goldstone, 2004; Lalande and Calciano, 2007; Nicholls and Knepper, 2001).”
• The epidemiology of autism spectrum disorders. (2007, neutral): “ASDs are heritable, but the model of inheritance”