Reviews
Imprinting in general Read more
Eggermann T, Leisten I, Binder G, Begemann M, Spengler S. (2011)
Disturbed methylation at multiple imprinted loci: an increasing observation in imprinting disorders.
Epigenomics Oct;3(5):625-37. doi: 10.2217/epi.11.84. Review
Frost JM, Moore GE (2010)
The importance of imprinting in the human placenta.
PLoS Genetics 6:e1001015.
Moore G, Oakey R (2011)
The role of imprinted genes in human.
Genome Biology 12:106.
Moore GE, Stanier P (2013)
Fat dads must not be blamed for their children’s health problems.
BMC Med Feb 6;11:30.
Ishida M, Moore GE (2013)
The role of imprinted genes in humans.
Mol Aspects Med Jul-Aug;34(4):826-40
Lapunzina P, Monk D (2011)
The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer.
Biol Cell. 2011 Jul;103(7):303-17
Temple IK, Mackay DJG Clayton Smith J
Epigenetic Epidemiology
Springer; January 2012; Chapter 9 Imprinting
Lim DH, Maher ER
Genomic imprinting syndromes and cancer.
Adv Genet. 2010;70:145-75.
Growth Read more
David A, Hwa V, Metherell LA, Netchine I, Camacho-Hübner C, Clark AJ, Rosenfeld RG, Savage MO (2011)
Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.
Endocr Rev Aug;32(4):472-97. doi: 10.1210
Netchine I, Azzi S, Le Bouc Y, Savage MO (2011)
IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development.
Best Pract Res Clin Endocrinol Metab. Feb;25(1):181-90. doi: 10.1016/j.beem.2010.08.005. Review.
Angelman Syndrome Read more
Ramsden SC, Clayton-Smith J, Birch R, Buiting K (2010)
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.
BMC Med Genet. May 11;11:70. doi: 10.1186/1471-2350-11-70.
Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J (2006)
Angelman syndrome 2005: updated consensus for diagnostic criteria.
Am J Med Genet A. Mar 1;140(5):413-8
Prader-Willi syndrome Read more
Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M; speakers contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS.
Recommendations for the diagnosis and management of Prader-Willi syndrome.
J Clin Endocrinol Metab. 2008 Nov;93(11):4183-97. doi: 10.1210/jc.2008-0649. Epub 2008 Aug 12. Erratum in: J Clin Endocrinol Metab. 2010 Dec;95(12):5465.
Ramsden SC, Clayton-Smith J, Birch R, Buiting K.
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.
BMC Med Genet. 2010 May 11;11:70. doi: 10.1186/1471-2350-11-70.
Deal CL, Tony M, Höybye C, Allen DB, Tauber M, Christiansen JS; 2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants.
GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome.
J Clin Endocrinol Metab. 2013 Jun;98(6):
Silver-Russell syndrome Read more
Eggermann T.
Russell-Silver syndrome.
Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. Review.
Eggermann T, Begemann M, Binder G, Spengler S.
Silver-Russell syndrome: genetic basis and molecular genetic testing.
Orphanet J Rare Dis. 2010 Jun 23;5:19. doi: 10.1186/1750-1172-5-19. Review.
Netchine I, Rossignol S, Azzi S, Brioude F, Le Bouc Y.
Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes.
Endocr Dev. 2012;23:60-70.
Beckwith-Wiedemann syndrome Read more
Netchine I, Rossignol S, Azzi S, Brioude F, Le Bouc Y.
Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes.
Endocr Dev. 2012;23:60-70.
Pseudohypoparathyroidism Ib Read more
Izzi B, Van Geet C, Freson K.
Recent advances in GNAS epigenetic research of pseudohypoparathyroidism.
Curr Mol Med 2012 Jun;12(5):566-73.
Mantovani G, Linglart A, Garin I, Silve C, Elli FM, de Nanclares GP.
Clinical utility gene card for: pseudohypoparathyroidism.
Eur J Hum Genet. 2013 Jun;21(6). doi: 10.1038/ejhg.2012
Transient Neonatal Diabetes Mellitus Read more
Mackay DJ, Temple IK.
Transient neonatal diabetes mellitus type 1.
Am J Med Genet 154C:335-42 2010
Temple IK, Shield JP.
6q24 transient neonatal diabetes.
Rev Endocr Metab Disord. 2010 Sep;11(3):199-204.
Temple IK, Mackay DJG, Docherty LE:
Diabetes Mellitus, 6q24-Related Transient Neonatal (September 2012)
in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org.
Temple syndrome Read more
Buiting K, Kanber D, Martín-Subero JI, Lieb W, Terhal P, Albrecht B, Purmann S, Gross S, Lich C, Siebert R, Horsthemke B, Gillessen-Kaesbach G.
Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster.
Hum Mutat. 2008 Sep;29(9):1141-6.