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

Clinical Genetics

Volumn 81, Issue 4, 2012, Pages 350-361

  Demars, J ^a,b   Gicquel, C ^a,c  

^a BAKER IDI HEART AND DIABETES INSTITUTE   (Australia)

^b CEMAGREF   (France)

^c MONASH UNIVERSITY   (Australia)

Author keywords

11p15 region; Beckwith; Cis regulatory element; Fetal growth; Genomic imprinting; Imprinting cycle; Multilocus hypomethylation disorder; Russell syndrome; Silver; Trans acting regulatory factor; Wiedemann syndrome

Indexed keywords

BORIS PROTEIN; C6ORF221 PROTEIN; CIS ACTING ELEMENT; COHESIN; CTCFL PROTEIN; CYCLIN DEPENDENT KINASE INHIBITOR 1C; CYTOSINE; DLK1 PROTEIN; GNAS PROTEIN; H19 OPPOSITE TUMOR SUPPRESSOR PROTEIN; HISTONE H3; LYSINE; NLRP2 PROTEIN; NLRP7 PROTEIN; OCTAMER TRANSCRIPTION FACTOR 4; PEG1 PROTEIN; POTASSIUM CHANNEL KCNQ1; PROTEIN; RNA H19; SOMATOMEDIN B; SOMATOMEDIN B RECEPTOR; TRANS ACTING FACTOR; TRANSCRIPTION FACTOR CTCF; TRANSCRIPTION FACTOR SOX2; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG; UNTRANSLATED RNA; ZFP57 PROTEIN;

ALLELE; BECKWITH WIEDEMANN SYNDROME; BINDING SITE; CHROMATIN; COPY NUMBER VARIATION; DNA METHYLATION; DOWN REGULATION; EMBRYO DEVELOPMENT; EPIGENETICS; FAMILIAL BIPARENTAL HYDATIDIFORM MOLE; FETUS GROWTH; GENE EXPRESSION; GENE EXPRESSION REGULATION; GENE LOCUS; GENETIC DISORDER; GENOME IMPRINTING; GROWTH RETARDATION; HAPLOTYPE; HISTONE ACETYLATION; HISTONE MODIFICATION; HOMOZYGOSITY; HUMAN; HYDATIDIFORM MOLE; IMPRINTED 11P15 REGION; MACROSOMIA; MOLECULAR PATHOLOGY; MOSAICISM; MULTILOCUS HYPOMETHYLATION DISORDER; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; REVIEW; SILVER RUSSELL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION INITIATION; UNIPARENTAL DISOMY; UPREGULATION; X CHROMOSOME INACTIVATION;

BECKWITH-WIEDEMANN SYNDROME; EPIGENESIS, GENETIC; GENOMIC IMPRINTING; HUMANS; MUTATION; SILVER-RUSSELL SYNDROME;

EID: 84858277940     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01822.x     Document Type: Review

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