Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis.

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Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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Novel deletion in 11p15.5 impr ...... regulation and tumorigenesis.

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Novel deletion in 11p15.5 impr ...... regulation and tumorigenesis.

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Novel deletion in 11p15.5 impr ...... regulation and tumorigenesis.

@en

Novel deletion in 11p15.5 impr ...... regulation and tumorigenesis.

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Novel deletion in 11p15.5 impr ...... regulation and tumorigenesis.

@en

Novel deletion in 11p15.5 impr ...... regulation and tumorigenesis.

@nl

P1476

Novel deletion in 11p15.5 impr ...... regulation and tumorigenesis.

@en

P2093

Carsten Bergmann

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Dieter Kotzot

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Dirk Prawitt

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Florian Bohne

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Kathrin Maurer

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Nadine Bachmann

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Roman Crazzolara

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Thorsten Enklaar

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P2860

Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects

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

Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.

Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor.

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

Igf2 imprinting does not require its own DNA methylation or H19 RNA.

A novel large deletion of the ICR1 region including H19 and putative enhancer elements

Analysis of the H19ICR insulator

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.

Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome.

P31

scholarly article

P356

10.1002/PBC.26241

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2016-09-21T00:00:00Z

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P698

27650505

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