Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

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Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

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wetenschappelijk artikel

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наукова стаття, опублікована в травні 2018

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Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

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Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

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Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

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Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

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Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

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Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

@nl

P1476

Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

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P2093

Camilo-José Hernández-Toro

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Carlos M Restrepo

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Magally Barrera-Castañeda

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Rodrigo Cabrera

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Rossi Quero

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Silvia Ramírez-Oyaga

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Victor-Manuel Huertas-Quiñones

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P2860

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

1p36 deletion syndrome: an update

Mammalian E4 is required for cardiac development and maintenance of the nervous system.

An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.

Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality.

Chromosome microarray analysis in the investigation of children with congenital heart disease.

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

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164-169

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scholarly article

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10.1159/000488820

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P407

English

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P478

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Paul Laissue

Claudia T Silva

Marta-Catalina Miranda-Fernández

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2018-05-01T00:00:00Z

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P698

29928183

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P932

6006643

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