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Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 2008, Vol.11 (4), p.329-331

2008

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Humans
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Life Sciences & Biomedicine
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Female
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Genetics & Heredity
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Dna Methylation
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Beckwith-Wiedemann Syndrome - Genetics
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Genomic Imprinting
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Beckwith-Wiedemann Syndrome
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Chromosomes, Human, Pair 11 - Genetics
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Silver-Russell syndrome following in vitro fertilization

Prevalence of beckwith-wiedemann syndrome in North West of Italy

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

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

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome

A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype

Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer

Nephrological findings and genotype–phenotype correlation in Beckwith–Wiedemann syndrome

Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

Looking for CDKN1C enhancers

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour

A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review

A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith–Wiedemann syndrome

A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family

Silver-Russell Syndrome following in Vitro Fertilization

Inherited and Sporadic Epimutations at the IGF2-H19 Locus in Beckwith-Wiedemann Syndrome and Wilms’ Tumor

A case of Beckwith—Wiedemann syndrome caused by a cryptic 11 p15 deletion encompassing the centromeric imprinted domain of the BWS locus

Silver-Russell syndrome following in vitro fertilization

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