First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients.

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First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients.

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2012 nî lūn-bûn

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2012年の論文

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2012年論文

@yue

2012年論文

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2012年論文

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2012年論文

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2012年論文

@zh-tw

2012年论文

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2012年论文

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2012年论文

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First genetic screening for ma ...... ver-russell syndrome patients.

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First genetic screening for ma ...... ver-russell syndrome patients.

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First genetic screening for ma ...... ver-russell syndrome patients.

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P1476

First genetic screening for ma ...... ver-russell syndrome patients.

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P2093

Beyhan Tuysuz

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Emin Karaca

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Ferda Ozkinay

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Sacide Pehlivan

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P2860

Human PEG1/MEST, an imprinted gene on chromosome 7

Searching for genomic variants in the MESTIT1 transcript in Silver-Russell syndrome patients

Uniparental disomy as a mechanism for human genetic disease

gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome

Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression

Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses

Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25

Evidence against a major role of PEG1/MEST in Silver-Russell syndrome

Maternal uniparental disomy 7 in Silver-Russell syndrome.

Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7

P304

445-451

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scholarly article

P433

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P478

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P577

2012-12-01T00:00:00Z

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P698

23429302

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P932

3533142

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