PMID: 10818855May 20, 2000Paper

Prader Willi and Angelman syndromes: exemplars of genomic imprinting

The Journal of Perinatal & Neonatal Nursing
C A Prows, R J Hopkin

Abstract

The molecular phenomenon genomic imprinting provides an explanation for why two clinically distinct syndromes share genetic etiologies. Increased understanding of genomic imprinting is affecting diagnostics. Use of improved diagnostic tests can enable early, syndrome-specific, and anticipatory interventions and consequently, improved quality of life; however, these tests are of little use unless clinicians are able to identify at-risk patients. Nurses knowledgeable about Prader Willi and Angelman syndromes and their associated genetic mechanisms can play a significant role in early identification, referral, and intervention of patients with these conditions.

References

Jan 1, 1991·American Journal of Medical Genetics·J S FryburgV Lindgren
Nov 1, 1990·Developmental Medicine and Child Neurology·K A Yamada, J J Volpe
Apr 1, 1989·Developmental Medicine and Child Neurology·R H Wharton, M J Bresnan
Mar 27, 1995·American Journal of Medical Genetics·I M BuntinxJ P Fryns
Mar 27, 1995·American Journal of Medical Genetics·C A WilliamsE M Whidden
Feb 1, 1995·Journal of Medical Genetics·G Gillessen-KaesbachB Horsthemke
Apr 1, 1996·Journal of Intellectual Disability Research : JIDR·D J ClarkeT Webb
May 1, 1996·Child: Care, Health and Development·K Sarimski
Jan 1, 1997·European Journal of Pediatrics·B SchlüterW Andler
Jan 1, 1997·Annual Review of Medicine·J G Hall
Apr 1, 1997·Mutation Research·B Tycko
Nov 1, 1996·Journal of Child Psychology and Psychiatry, and Allied Disciplines·E M DykensS B Cassidy
Aug 1, 1997·Trends in Genetics : TIG·R Jaenisch
Aug 1, 1997·Trends in Genetics : TIG·W Reik, E R Maher
Aug 1, 1997·Current Opinion in Neurobiology·E B Keverne
Sep 1, 1997·Nature Genetics·T H Vu, A R Hoffman
Sep 1, 1997·Nature Genetics·C RougeulleM Lalande
Jan 1, 1997·Human Mutation·B HorsthemkeK Buiting
Dec 10, 1997·Journal of Medical Genetics·S B Cassidy
Dec 24, 1997·Acta Paediatrica. Supplement·D F Swaab
Apr 29, 1998·Medicine·S B Cassidy, S Schwartz
May 15, 1998·Journal of Medical Genetics·W P RobinsonA A Schinzel
Jun 20, 1998·Molecular and Cellular Biology·T CasparyS M Tilghman
May 20, 1998·Journal of Pediatric Psychology·C F van LieshoutJ P Fryns
Aug 5, 1998·Current Opinion in Genetics & Development·Y JiangA L Beaudet
Sep 4, 1998·European Journal of Pediatrics·H A WollmannM B Ranke
Sep 15, 1998·Human Molecular Genetics·I M Morison, A E Reeve
Jan 20, 1999·Molecular Pathology : MP·J A Joyce, P N Schofield

❮ Previous
Next ❯

Citations

Feb 2, 2011·PloS One·Chun YangZhihui Zhao
Jun 20, 2002·The Journal of Pediatrics·Bronwyn GlaserStephan Eliez
Apr 13, 2005·Child Neuropsychology : a Journal on Normal and Abnormal Development in Childhood and Adolescence·Janneke Zinkstok, Thérèse van Amelsvoort
Dec 16, 2006·British Journal of Nursing : BJN·Steve Higgins, Jean Duffy

❮ Previous
Next ❯

Related Concepts

Related Feeds

Angelman Syndrome

Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.