Epigenetics and human disease: translating basic biology into clinical applications

D Rodenhiser, M Mann - Cmaj, 2006 - Can Med Assoc
Epigenetics refers to the study of heritable changes in gene expression that occur without a
change in DNA sequence. Research has shown that epigenetic mechanisms provide an" …

Telomeres: a diagnosis at the end of the chromosomes

BBA De Vries, R Winter, A Schinzel… - Journal of medical …, 2003 - jmg.bmj.com
In recent years, subtelomeric rearrangements have been identified as a major cause of
mental retardation and/or malformation syndromes. So far, over 2500 subjects with mental …

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

C Gicquel, S Rossignol, S Cabrol, M Houang… - Nature …, 2005 - nature.com
Abstract Silver-Russell syndrome (SRS, OMIM 180860) is a congenital disorder
characterized by severe intrauterine and postnatal growth retardation, dysmorphic facial …

11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic …

I Netchine, S Rossignol, MN Dufourg… - The Journal of …, 2007 - academic.oup.com
Abstract Context: Russell-Silver syndrome (RSS), characterized by intrauterine and
postnatal growth retardation, dysmorphic features, and frequent body asymmetry, spares …

Disruption of the imprinted Grb10 gene leads to disproportionate overgrowth by an Igf2-independent mechanism

M Charalambous, FM Smith… - Proceedings of the …, 2003 - National Acad Sciences
To investigate the function of the Grb10 adapter protein, we have generated mice in which
the Grb10 gene was disrupted by a gene-trap insertion. Our experiments confirm that Grb10 …

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

L Feuk, A Kalervo, M Lipsanen-Nyman, J Skaug… - The American Journal of …, 2006 - cell.com
Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases
have been described. We characterize 13 patients with DVD—5 with hemizygous paternal …

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver–Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

D Bartholdi, M Krajewska-Walasek, K Õunap… - Journal of medical …, 2009 - jmg.bmj.com
Background: Silver–Russell syndrome (SRS) is a clinically and genetically heterogeneous
condition characterised by severe intrauterine and postnatal growth retardation. Loss of …

The genetic aetiology of Silver–Russell syndrome

S Abu-Amero, D Monk, J Frost, M Preece… - Journal of medical …, 2008 - jmg.bmj.com
Silver–Russell syndrome (SRS MIM180860) is a disorder characterised by intrauterine
and/or postnatal growth restriction and typical facies. However, the clinical picture is …

Grb10 and Grb14: enigmatic regulators of insulin action–and more?

LJ Holt, K Siddle - Biochemical Journal, 2005 - portlandpress.com
The Grb proteins (growth factor receptor-bound proteins) Grb7, Grb10 and Grb14 constitute
a family of structurally related multidomain adapters with diverse cellular functions. Grb10 …

Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark

P Arnaud, D Monk, M Hitchins, E Gordon… - Human molecular …, 2003 - academic.oup.com
Grb10/GRB10 encodes a cytoplasmic adapter protein which modulates coupling of a
number of cell surface receptor tyrosine kinases with specific signalling pathways. Mouse …