# Genetic Syndromes and Imprinting
**Type:** Topics
**Canonical URL:** https://scholariq.org/topics/genetic-syndromes-and-imprinting/
## Facts
| Field | Value |
| --- | --- |
| Description | This cluster of papers explores the phenomenon of genomic imprinting, where certain genes are expressed in a parent-of-origin-specific manner. It covers topics such as parental influence on gene expression, epigenetic regulation through DNA methylation, and the role of imprinted genes in syndromes like Prader-Willi and Angelman. Additionally, it delves into the mechanisms of imprint control regions and the involvement of non-coding RNA in regulating imprinted gene networks. |
| Domain | Life Sciences |
| Field | Biochemistry, Genetics and Molecular Biology |
| OpenAlex ID | t11928 |
| Works | 226 |
## Topic papers all
Showing 15 of 226.
- [Persistent epigenetic differences associated with prenatal exposure to famine in humans](https://scholariq.org/papers/persistent-epigenetic-differences-associated-with-prenatal-exposure-to-famine-in/)
- [Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret](https://scholariq.org/papers/defects-in-the-kidney-and-enteric-nervous-system-of-mice-lacking-the-tyrosine/)
- [Autosomal dominant polycystic kidney disease](https://scholariq.org/papers/autosomal-dominant-polycystic-kidney-disease/)
- [Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23](https://scholariq.org/papers/autosomal-dominant-hypophosphataemic-rickets-is-associated-with-mutations-in/)
- [Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4](https://scholariq.org/papers/large-scale-genome-wide-association-analysis-of-bipolar-disorder-identifies-a/)
- [ PKD2 , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein](https://scholariq.org/papers/b-i-pkd2-i-b-a-gene-for-polycystic-kidney-disease-that-encodes-an-integral/)
- [Rett syndrome: Revised diagnostic criteria and nomenclature](https://scholariq.org/papers/rett-syndrome-revised-diagnostic-criteria-and-nomenclature/)
- [DNA methylation age of blood predicts all-cause mortality in later life](https://scholariq.org/papers/dna-methylation-age-of-blood-predicts-all-cause-mortality-in-later-life/)
- [Ciliopathies](https://scholariq.org/papers/ciliopathies/)
- [When cilia go bad: cilia defects and ciliopathies](https://scholariq.org/papers/when-cilia-go-bad-cilia-defects-and-ciliopathies/)
- [Fibroblast growth factor 23 is elevated before parathyroid hormone and phosphate in chronic kidney disease](https://scholariq.org/papers/fibroblast-growth-factor-23-is-elevated-before-parathyroid-hormone-and-phosphate/)
- [Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity](https://scholariq.org/papers/epigenome-wide-association-study-of-body-mass-index-and-the-adverse-outcomes-of/)
- [The Polycystic Kidney Disease Proteins, Polycystin-1, Polycystin-2, Polaris, and Cystin, Are Co-Localized in Renal Cilia](https://scholariq.org/papers/the-polycystic-kidney-disease-proteins-polycystin-1-polycystin-2-polaris-and/)
- [Hyperparathyroidism](https://scholariq.org/papers/hyperparathyroidism/)
- [The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains](https://scholariq.org/papers/the-polycystic-kidney-disease-1-pkd1-gene-encodes-a-novel-protein-with-multiple/)
## Topic primary papers
Showing 15 of 40.
- [Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour](https://scholariq.org/papers/relaxation-of-insulin-like-growth-factor-ii-gene-imprinting-implicated-in-wilms/)
- [Haploinsufficiency of NSD1 causes Sotos syndrome](https://scholariq.org/papers/haploinsufficiency-of-nsd1-causes-sotos-syndrome/)
- [A Pituitary-Derived MEG3 Isoform Functions as a Growth Suppressor in Tumor Cells](https://scholariq.org/papers/a-pituitary-derived-meg3-isoform-functions-as-a-growth-suppressor-in-tumor-cells/)
- [CTCF Mediates Interchromosomal Colocalization Between Igf2/H19 and Wsb1/Nf1](https://scholariq.org/papers/ctcf-mediates-interchromosomal-colocalization-between-i-igf2-h19-i-and-i-wsb1/)
- [An imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndrome](https://scholariq.org/papers/an-imprinted-gene-p57kip2-is-mutated-in-beckwith-wiedemann-syndrome/)
- [Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement](https://scholariq.org/papers/diagnosis-and-management-of-pseudohypoparathyroidism-and-related-disorders-first/)
- [Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes](https://scholariq.org/papers/deletions-and-epimutations-affecting-the-human-14q32-2-imprinted-region-in/)
- [Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation Syndrome](https://scholariq.org/papers/derangements-of-hippocampal-calcium-calmodulin-dependent-protein-kinase-ii-in-a/)
- [Sleep and breathing in Prader‐Willi syndrome](https://scholariq.org/papers/sleep-and-breathing-in-prader-willi-syndrome/)
- [Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST](https://scholariq.org/papers/silver-russell-syndrome-in-a-girl-born-after-in-vitro-fertilization-partial/)
- [Differential expression of imprinted genes in normal and IUGR human placentas](https://scholariq.org/papers/differential-expression-of-imprinted-genes-in-normal-and-iugr-human-placentas/)
- [From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network](https://scholariq.org/papers/from-pseudohypoparathyroidism-to-inactivating-pth-pthrp-signalling-disorder/)
- [Epigenetic Defects ofGNASin Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy](https://scholariq.org/papers/epigenetic-defects-of-i-gnas-i-in-patients-with-pseudohypoparathyroidism-and/)
- [Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort](https://scholariq.org/papers/paternal-sperm-dna-methylation-associated-with-early-signs-of-autism-risk-in-an/)
- [Pseudohypoparathyroidism andGNASEpigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients](https://scholariq.org/papers/pseudohypoparathyroidism-and-i-gnas-i-epigenetic-defects-clinical-evaluation-of/)
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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.