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Scholar Results 1 - 10 of about 72 citing Eggermann: Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the.... (0.07 sec) 

[PDF] Beckwith-Wiedemann syndrome


R Weksberg, C Shuman, AC Smith… - AMERICAN JOURNAL OF MEDICAL GENETICS. PART …, 2005 - mit.edu
Beckwith–Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth
syndrome associated with an increased risk for embryonal tumor development. BWS
provides an ideal model system to study epigenetic mechanisms. This ...
Cited by 102 - Related articles - View as HTML - BL Direct - All 12 versions

Epigenetic deregulation of imprinting in congenital diseases of aberrant growth


K Delaval, A Wagschal, R Feil - Bioessays, 2006 - interscience.wiley.com
Human chromosome 11p15 comprises two imprinted domains important in the control
of fetal and postnatal growth. Novel studies[1-3] establish that imprinting at
one of these, the IGF2-H19 domain, is epigenetically deregulated (with loss ...
Cited by 41 - Related articles - BL Direct - All 4 versions

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus


DJG Mackay, SE Boonen, J Clayton-Smith, J … - Human genetics, 2006 - Springer
Abstract The expression of imprinted genes is mediated by allele-speciWc
epigenetic modiWcation of genomic DNA and chromatin, including parent of ori-
gin-speciWc DNA methylation. Dysregulation of these genes causes a range of ...
Cited by 41 - Related articles - BL Direct - All 6 versions

The centromeric 11p15 imprinting center is also involved in Silver-Russell syndrome


N Schoenherr, E Meyer, A Roos, A Schmidt, … - British Medical Journal, 2006 - jmg.bmj.com
Online First articles must include the digital object identifier (DOIs) and date
of initial publication. establish publication priority; they are indexed by
PubMed from initial publication. Citations to may be posted when available ...
Cited by 38 - Related articles - BL Direct - All 5 versions

(Epi) mutations in 11p15 significantly contribute to Silver–Russell syndrome: but are they …


N Schönherr, E Meyer, K Eggermann, MB … - European journal of medical genetics, 2006 - Elsevier
(Epi)mutations affecting chromosome 11p15 are meanwhile well known to be
associated with growth disturbances. The finding of 11p15 mutations in the
overgrowth disease Beckwith–Wiedemann syndrome (BWS) led to the ...
Cited by 25 - Related articles - All 3 versions

Epimutation of the TNDM locus and the Beckwith–Wiedemann syndrome centromeric locus in …

- ngrl.co.uk [PDF] 
DJG Mackay, JMD Hahnemann, SE Boonen, S … - Human genetics, 2006 - Springer
Abstract Transient neonatal diabetes mellitus (TNDM) is characterised by
intra-uterine growth retardation, while Beckwith–Wiedemann syndrome (BWS) is a
clin- ically heterogeneous overgrowth syndrome. Both TNDM and BWS may be ...
Cited by 25 - Related articles - BL Direct - All 7 versions

11p15 imprinting center region 1 loss of methylation is a common and specific cause of …

- angrylapdog.com
I Netchine, S Rossignol, MN Dufourg, S Azzi, … - Journal of Clinical Endocrinology & Metabolism, 2007 - jcem.endojournals.org.p.angrylapdog.com
Results: Of the 127 SGA patients, 58 were diagnosed with RSS; 37 of these
(63.8%) displayed partial LOM of the 11p15 ICR1 domain, and three (5.2%) had
mUPD7. No molecular abnormalities were found in the non-RSS SGA group (n = ...
Cited by 23 - Related articles - All 4 versions

The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic …

- endojournals.org
G Binder, AK Seidel, DD Martin, R … - Journal of Clinical Endocrinology & Metabolism, 2008 - Endocrine Soc
Context: Around 50% of children with Silver-Russell syndrome (SRS) carry a
hypomethylation of the imprinting control region 1 at the IGF2/H19 locus on
11p15, the functional significance of which is unknown.
Cited by 21 - Related articles - BL Direct - All 5 versions

The genetic aetiology of Silver-Russell syndrome


S Abu-Amero, D Monk, J Frost, M Preece, P … - Journal of Medical Genetics, 2008 - jmg.bmjjournals.com.p.angrylapdog.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 extremely diverse due to numerous diagnostic ...
Cited by 18 - Related articles - BL Direct - All 4 versions

Could epigenetics play a role in the developmental origins of health and disease?


WS CUTFIELD, PL HOFMAN, M MITCHELL, … - Pediatric research, 2007 - journals.lww.com
ABSTRACT: Following Barker's observations of an association between birth size
and later adult diseases, considerable efforts have been made to define the
characteristics of low birth weight groups in childhood. In this review, ...
Cited by 16 - Related articles - BL Direct - All 4 versions


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