Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

(2014) Walid Abi Habib et al.   HUMAN MOLECULAR GENETICS

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

(2014) Thomas Eggermann et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

(2014) Abdulla Ibrahim et al.   Clinical Epigenetics

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

(2013) Jennifer M. Kalish et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

GNAS-Related Loss-of-Function Disorders and the Role of Imprinting

(2013) Agnès Linglart et al.   Hormone Research in Paediatrics

Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation

(2012) Matthias Begemann et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites

(2012) Jasmin Beygo et al.   HUMAN MOLECULAR GENETICS

Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features

(2012) Sabrina Spengler et al.   JOURNAL OF PEDIATRICS

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes

(2011) J Demars et al.   CLINICAL GENETICS

Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1

(2011) Rebecca L Poole et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mechanisms of imprint dysregulation

(2010) Bernhard Horsthemke   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Imprinting on chromosome 20: Tissue-specific imprinting and imprinting mutations in the GNAS locus

(2010) Gavin Kelsey   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Beckwith-Wiedemann syndrome

(2010) Sanaa Choufani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

6q24 transient neonatal diabetes

(2010) I. Karen Temple et al.   REVIEWS IN ENDOCRINE & METABOLIC DISORDERS

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

(2009) Julie Demars et al.   HUMAN MOLECULAR GENETICS

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients

(2009) S. Bruce et al.   JOURNAL OF MEDICAL GENETICS

Chromatin mechanisms in genomic imprinting

(2009) Slim Kacem et al.   MAMMALIAN GENOME

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

(2009) Esther Meyer et al.   PLoS Genetics

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

(2008) Deborah J G Mackay et al.   NATURE GENETICS

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

(2008) Masayo Kagami et al.   NATURE GENETICS